HP:0000001	All	
HP:0000002	Abnormality of body height	Deviation from the norm of height with respect to that which is expected according to age and gender norms.
HP:0000003	Multicystic kidney dysplasia	Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
HP:0000005	Mode of inheritance	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
HP:0000006	Autosomal dominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
HP:0000007	Autosomal recessive inheritance	A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
HP:0000008	Abnormal morphology of female internal genitalia	An abnormality of the female internal genitalia.
HP:0000009	Functional abnormality of the bladder	Dysfunction of the urinary bladder.
HP:0000010	Recurrent urinary tract infections	Repeated infections of the urinary tract.
HP:0000011	Neurogenic bladder	A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
HP:0000012	Urinary urgency	Urge incontinence is the strong, sudden need to urinate.
HP:0000013	Hypoplasia of the uterus	Underdevelopment of the uterus.
HP:0000014	Abnormality of the bladder	An abnormality of the urinary bladder.
HP:0000015	Bladder diverticulum	Diverticulum (sac or pouch) in the wall of the urinary bladder.
HP:0000016	Urinary retention	Inability to completely empty the urinary bladder during the process of urination.
HP:0000017	Nocturia	Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
HP:0000019	Urinary hesitancy	Difficulty in beginning the process of urination.
HP:0000020	Urinary incontinence	Loss of the ability to control the urinary bladder leading to involuntary urination.
HP:0000021	Megacystis	Dilatation of the bladder postnatally.
HP:0000022	Abnormal male internal genitalia morphology	An abnormality of the male internal genitalia.
HP:0000023	Inguinal hernia	Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000024	Prostatitis	The presence of inflammation of the prostate.
HP:0000025	Functional abnormality of male internal genitalia	
HP:0000026	Male hypogonadism	Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.
HP:0000027	Azoospermia	Absence of any measurable level of sperm in his semen.
HP:0000028	Cryptorchidism	Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0000029	Testicular atrophy	Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
HP:0000030	Testicular gonadoblastoma	The presence of a gonadoblastoma of the testis.
HP:0000031	Epididymitis	The presence of inflammation of the epididymis.
HP:0000032	Abnormality of male external genitalia	An abnormality of male external genitalia.
HP:0000033	Ambiguous genitalia, male	Ambiguous genitalia in an individual with XY genetic gender.
HP:0000034	Hydrocele testis	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
HP:0000035	Abnormal testis morphology	An anomaly of the testicle (the male gonad).
HP:0000036	Abnormal penis morphology	Abnormality of the male external sex organ.
HP:0000037	Male pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
HP:0000039	Epispadias	Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.
HP:0000040	Long penis	Penile length more than 2 SD above the mean for age.
HP:0000041	Chordee	Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
HP:0000042	Absent external genitalia	Lack of external genitalia in a male or female individual.
HP:0000044	Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
HP:0000045	Abnormality of the scrotum	
HP:0000046	Small scrotum	Apparently small scrotum for age.
HP:0000047	Hypospadias	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
HP:0000048	Bifid scrotum	Midline indentation or cleft of the scrotum.
HP:0000049	Shawl scrotum	Superior margin of the scrotum superior to the base of the penis.
HP:0000050	Hypoplastic male external genitalia	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
HP:0000051	Perineal hypospadias	Hypospadias with location of the urethral meatus in the perineal region.
HP:0000052	Urethral atresia, male	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.
HP:0000053	Macroorchidism	The presence of abnormally large testes.
HP:0000054	Micropenis	Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
HP:0000055	Abnormality of female external genitalia	An abnormality of the female external genitalia.
HP:0000056	Abnormality of the clitoris	An abnormality of the clitoris.
HP:0000058	Abnormal labia morphology	An anomaly of the labia, the externally visible portions of the vulva.
HP:0000059	Hypoplastic labia majora	Undergrowth of the outer labia.
HP:0000060	Clitoral hypoplasia	Developmental hypoplasia of the clitoris.
HP:0000061	Ambiguous genitalia, female	Ambiguous genitalia in an individual with XX genetic gender.
HP:0000062	Ambiguous genitalia	A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
HP:0000063	Fused labia minora	Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.
HP:0000064	Hypoplastic labia minora	
HP:0000065	Labial hypertrophy	
HP:0000066	Labial hypoplasia	
HP:0000067	Urethral atresia, female	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.
HP:0000068	Urethral atresia	Congenital anomaly characterized by closure or failure to develop an opening in the urethra.
HP:0000069	Abnormality of the ureter	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
HP:0000070	Ureterocele	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
HP:0000071	Ureteral stenosis	The presence of a stenotic, i.e., constricted ureter.
HP:0000072	Hydroureter	The distention of the ureter with urine.
HP:0000073	Ureteral duplication	A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
HP:0000074	Ureteropelvic junction obstruction	Blockage of urine flow from the renal pelvis to the proximal ureter.
HP:0000075	Renal duplication	A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
HP:0000076	Vesicoureteral reflux	Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
HP:0000077	Abnormality of the kidney	An abnormality of the kidney.
HP:0000078	Abnormality of the genital system	An abnormality of the genital system.
HP:0000079	Abnormality of the urinary system	An abnormality of the urinary system.
HP:0000080	Abnormality of reproductive system physiology	An abnormal functionality of the genital system.
HP:0000081	Duplicated collecting system	A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.
HP:0000083	Renal insufficiency	A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
HP:0000085	Horseshoe kidney	A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
HP:0000086	Ectopic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position.
HP:0000089	Renal hypoplasia	Hypoplasia of the kidney.
HP:0000090	Nephronophthisis	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
HP:0000091	Abnormal renal tubule morphology	An abnormality of the renal tubules.
HP:0000092	Renal tubular atrophy	The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
HP:0000093	Proteinuria	Increased levels of protein in the urine.
HP:0000095	Abnormal renal glomerulus morphology	A structural anomaly of the glomerulus.
HP:0000096	Glomerular sclerosis	Accumulation of scar tissue within the glomerulus.
HP:0000097	Focal segmental glomerulosclerosis	Segmental accumulation of scar tissue in individual (but not all) glomeruli.
HP:0000098	Tall stature	A height above that which is expected according to age and gender norms.
HP:0000099	Glomerulonephritis	Inflammation of the renal glomeruli.
HP:0000100	Nephrotic syndrome	Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
HP:0000103	Polyuria	An increased rate of urine production.
HP:0000104	Renal agenesis	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
HP:0000105	Enlarged kidney	An abnormal increase in the size of the kidney.
HP:0000107	Renal cyst	A fluid filled sac in the kidney.
HP:0000108	Renal corticomedullary cysts	The presence of multiple cysts at the border between the renal cortex and medulla.
HP:0000110	Renal dysplasia	The presence of developmental dysplasia of the kidney.
HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	Increased number and size of the juxtaglomerular cells.
HP:0000112	Nephropathy	A nonspecific term referring to disease or damage of the kidneys.
HP:0000113	Polycystic kidney dysplasia	The presence of multiple cysts in both kidneys.
HP:0000114	Proximal tubulopathy	Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
HP:0000117	Renal phosphate wasting	High urine phosphate in the presence of hypophosphatemia.
HP:0000118	Phenotypic abnormality	A phenotypic abnormality.
HP:0000119	Abnormality of the genitourinary system	The presence of any abnormality of the genitourinary system.
HP:0000121	Nephrocalcinosis	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
HP:0000122	Unilateral renal agenesis	A unilateral form of agenesis of the kidney.
HP:0000123	Nephritis	The presence of inflammation affecting the kidney.
HP:0000124	Renal tubular dysfunction	Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
HP:0000125	Pelvic kidney	A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
HP:0000126	Hydronephrosis	Severe distention of the kidney with dilation of the renal pelvis and calices.
HP:0000127	Renal salt wasting	A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
HP:0000128	Renal potassium wasting	High urine potassium in the presence of hypokalemia.
HP:0000130	Abnormality of the uterus	An abnormality of the uterus.
HP:0000131	Uterine leiomyoma	The presence of a leiomyoma of the uterus.
HP:0000132	Menorrhagia	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
HP:0000133	Gonadal dysgenesis	
HP:0000134	Female hypogonadism	Decreased functionality of the female gonads, i.e., of the ovary.
HP:0000135	Hypogonadism	A decreased functionality of the gonad.
HP:0000136	Bifid uterus	The presence of a bifid uterus.
HP:0000137	Abnormality of the ovary	An abnormality of the ovary.
HP:0000138	Ovarian cyst	The presence of one or more cysts of the ovary.
HP:0000139	Uterine prolapse	The presence of prolapse of the uterus.
HP:0000140	Abnormality of the menstrual cycle	An abnormality of the ovulation cycle.
HP:0000141	Amenorrhea	Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
HP:0000142	Abnormal vagina morphology	Any structural abnormality of the vagina.
HP:0000143	Rectovaginal fistula	The presence of a fistula between the vagina and the rectum.
HP:0000144	Decreased fertility	
HP:0000145	Transverse vaginal septum	
HP:0000147	Polycystic ovaries	
HP:0000148	Vaginal atresia	Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
HP:0000149	Ovarian gonadoblastoma	The presence of a gonadoblastoma of the ovary.
HP:0000150	Gonadoblastoma	The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
HP:0000151	Aplasia of the uterus	Aplasia of the uterus.
HP:0000152	Abnormality of head or neck	An abnormality of head and neck.
HP:0000153	Abnormality of the mouth	An abnormality of the mouth.
HP:0000154	Wide mouth	Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
HP:0000155	Oral ulcer	Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
HP:0000157	Abnormality of the tongue	Any abnormality of the tongue.
HP:0000158	Macroglossia	Increased length and width of the tongue.
HP:0000159	Abnormal lip morphology	An abnormality of the lip.
HP:0000160	Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
HP:0000161	Median cleft lip	A type of cleft lip presenting as a midline (median) gap in the upper lip.
HP:0000162	Glossoptosis	Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
HP:0000163	Abnormal oral cavity morphology	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
HP:0000164	Abnormality of the dentition	Any abnormality of the teeth.
HP:0000166	Severe periodontitis	A severe form of periodontitis.
HP:0000168	Abnormality of the gingiva	Any abnormality of the gingiva (also known as gums).
HP:0000169	Gingival fibromatosis	The presence of fibrosis of the gingiva.
HP:0000171	Microglossia	Decreased length and width of the tongue.
HP:0000172	Abnormal uvula morphology	Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.
HP:0000174	Abnormal palate morphology	Any abnormality of the palate, i.e., of roof of the mouth.
HP:0000175	Cleft palate	Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
HP:0000176	Submucous cleft hard palate	Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
HP:0000177	Abnormal upper lip morphology	An abnormality of the upper lip.
HP:0000178	Abnormal lower lip morphology	An abnormality of the lower lip.
HP:0000179	Thick lower lip vermilion	Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
HP:0000180	Lobulated tongue	Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
HP:0000182	Movement abnormality of the tongue	
HP:0000183	Difficulty in tongue movements	
HP:0000185	Cleft soft palate	Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
HP:0000187	Broad alveolar ridges	
HP:0000188	Short upper lip	Decreased width of the upper lip.
HP:0000189	Narrow palate	Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
HP:0000190	Abnormal oral frenulum morphology	An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.
HP:0000191	Accessory oral frenulum	Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
HP:0000193	Bifid uvula	Uvula separated into two parts most easily seen at the tip.
HP:0000194	Open mouth	A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0000196	Lower lip pit	Depression located on the vermilion of the lower lip, usually paramedian.
HP:0000197	Abnormal parotid gland morphology	Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.
HP:0000198	Absence of Stensen duct	
HP:0000199	Tongue nodules	
HP:0000200	Short lingual frenulum	The presence of an abnormally short lingual frenulum.
HP:0000201	Pierre-Robin sequence	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000202	Orofacial cleft	The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
HP:0000204	Cleft upper lip	A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
HP:0000205	Pursed lips	An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
HP:0000206	Glossitis	Inflammation of the tongue.
HP:0000207	Triangular mouth	The presence of a triangular form of the mouth.
HP:0000211	Trismus	Limitation in the ability to open the mouth.
HP:0000212	Gingival overgrowth	Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
HP:0000214	Lip telangiectasia	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
HP:0000215	Thick upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
HP:0000216	Broad secondary alveolar ridge	
HP:0000217	Xerostomia	Dryness of the mouth due to salivary gland dysfunction.
HP:0000218	High palate	Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
HP:0000219	Thin upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
HP:0000220	Velopharyngeal insufficiency	Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0000221	Furrowed tongue	Accentuation of the grooves on the dorsal surface of the tongue.
HP:0000222	Gingival hyperkeratosis	Hyperkeratosis of the gingiva.
HP:0000223	Abnormality of taste sensation	
HP:0000224	Hypogeusia	A decreased ability to perceive flavor.
HP:0000225	Gingival bleeding	Hemorrhage affecting the gingiva.
HP:0000227	Tongue telangiectasia	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
HP:0000228	Oral cavity telangiectasia	Presence of telangiectases in the oral cavity.
HP:0000230	Gingivitis	Inflammation of the gingiva.
HP:0000232	Everted lower lip vermilion	An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
HP:0000233	Thin vermilion border	Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
HP:0000234	Abnormality of the head	An abnormality of the head.
HP:0000235	Abnormality of the fontanelles or cranial sutures	Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).
HP:0000236	Abnormality of the anterior fontanelle	An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.
HP:0000237	Small anterior fontanelle	Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.
HP:0000238	Hydrocephalus	Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
HP:0000239	Large fontanelles	In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
HP:0000240	Abnormality of skull size	Any abnormality of the size of the skull.
HP:0000242	Parietal bossing	Parietal bossing is a marked prominence in the parietal region.
HP:0000243	Trigonocephaly	Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
HP:0000244	Brachyturricephaly	Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.
HP:0000245	Abnormal paranasal sinus morphology	Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.
HP:0000246	Sinusitis	Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
HP:0000248	Brachycephaly	An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
HP:0000250	Dense calvaria	An abnormal increase of density of the bones making up the calvaria.
HP:0000252	Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000253	Progressive microcephaly	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
HP:0000255	Acute sinusitis	An acute form of sinusitis.
HP:0000256	Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
HP:0000260	Wide anterior fontanel	Enlargement of the anterior fontanelle with respect to age-dependent norms.
HP:0000262	Turricephaly	Tall head relative to width and length.
HP:0000263	Oxycephaly	Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
HP:0000264	Abnormal mastoid morphology	An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.
HP:0000265	Mastoiditis	
HP:0000267	Cranial asymmetry	Asymmetry of the bones of the skull.
HP:0000268	Dolichocephaly	An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
HP:0000269	Prominent occiput	Increased convexity of the occiput (posterior part of the skull).
HP:0000270	Delayed cranial suture closure	Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
HP:0000271	Abnormality of the face	An abnormality of the face.
HP:0000272	Malar flattening	Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
HP:0000273	Facial grimacing	
HP:0000274	Small face	A face that is short and narrow.
HP:0000275	Narrow face	Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
HP:0000276	Long face	Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
HP:0000277	Abnormal mandible morphology	Any abnormality of the mandible, the bone of the lower jaw.
HP:0000278	Retrognathia	An abnormality in which the mandible is mislocalised posteriorly.
HP:0000280	Coarse facial features	Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
HP:0000282	Facial edema	
HP:0000283	Broad face	Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
HP:0000286	Epicanthus	A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
HP:0000287	Increased facial adipose tissue	An increased amount of subcutaneous fat tissue in the face.
HP:0000288	Abnormality of the philtrum	An abnormality of the philtrum.
HP:0000289	Broad philtrum	Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
HP:0000290	Abnormality of the forehead	An anomaly of the forehead.
HP:0000291	Abnormality of facial adipose tissue	
HP:0000292	Loss of facial adipose tissue	Loss of normal subcutaneous fat tissue in the face.
HP:0000293	Full cheeks	Increased prominence or roundness of soft tissues between zygomata and mandible.
HP:0000294	Low anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
HP:0000295	Doll-like facies	A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.
HP:0000297	Facial hypotonia	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
HP:0000298	Mask-like facies	A lack of facial expression often with staring eyes and a slightly open mouth.
HP:0000300	Oval face	A face with a rounded and slightly elongated outline.
HP:0000301	Abnormality of facial musculature	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
HP:0000303	Mandibular prognathia	Abnormal prominence of the chin related to increased length of the mandible.
HP:0000306	Abnormality of the chin	An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.
HP:0000307	Pointed chin	A marked tapering of the lower face to the chin.
HP:0000308	Microretrognathia	A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
HP:0000309	Abnormal midface morphology	An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.
HP:0000311	Round face	The facial appearance is more circular than usual as viewed from the front.
HP:0000315	Abnormality of the orbital region	
HP:0000316	Hypertelorism	Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
HP:0000317	Facial myokymia	Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0000319	Smooth philtrum	Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
HP:0000320	Bird-like facies	
HP:0000321	Square face	Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
HP:0000322	Short philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
HP:0000324	Facial asymmetry	An abnormal difference between the left and right sides of the face.
HP:0000325	Triangular face	Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
HP:0000326	Abnormal maxilla morphology	An abnormality of the Maxilla (upper jaw bone).
HP:0000327	Hypoplasia of the maxilla	Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
HP:0000329	Facial hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
HP:0000331	Short chin	Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
HP:0000336	Prominent supraorbital ridges	Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
HP:0000337	Broad forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
HP:0000338	Hypomimic face	A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.
HP:0000339	Pugilistic facies	Coarse facial features reminiscent of those of a boxer.
HP:0000340	Sloping forehead	Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
HP:0000341	Narrow forehead	Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
HP:0000343	Long philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
HP:0000346	Whistling appearance	An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.
HP:0000347	Micrognathia	Developmental hypoplasia of the mandible.
HP:0000348	High forehead	An abnormally increased height of the forehead.
HP:0000349	Widow's peak	Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
HP:0000350	Small forehead	The presence of a forehead that is abnormally small.
HP:0000356	Abnormality of the outer ear	An abnormality of the external ear.
HP:0000357	Abnormal location of ears	Abnormal location of the ear.
HP:0000358	Posteriorly rotated ears	A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
HP:0000359	Abnormality of the inner ear	An abnormality of the inner ear.
HP:0000360	Tinnitus	Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
HP:0000362	Otosclerosis	In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.
HP:0000363	Abnormal earlobe morphology	An abnormality of the lobule of pinna.
HP:0000364	Hearing abnormality	An abnormality of the sensory perception of sound.
HP:0000365	Hearing impairment	A decreased magnitude of the sensory perception of sound.
HP:0000366	Abnormality of the nose	An abnormality of the nose.
HP:0000368	Low-set, posteriorly rotated ears	Ears that are low-set and posteriorly rotated.
HP:0000369	Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
HP:0000370	Abnormality of the middle ear	An abnormality of the middle ear.
HP:0000371	Acute otitis media	Acute otitis media is a short and generally painful infection of the middle ear.
HP:0000372	Abnormality of the auditory canal	An abnormality of the External acoustic tube (also known as the auditory canal).
HP:0000375	Abnormal cochlea morphology	An abnormality of the cochlea.
HP:0000376	Incomplete partition of the cochlea type II	With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.
HP:0000377	Abnormal pinna morphology	An abnormality of the pinna, which is also referred to as the auricle or external ear.
HP:0000378	Cupped ear	Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
HP:0000381	Stapes ankylosis	Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
HP:0000383	Abnormal periauricular region morphology	
HP:0000384	Preauricular skin tag	A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
HP:0000385	Small earlobe	Reduced volume of the earlobe.
HP:0000387	Absent earlobe	Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
HP:0000388	Otitis media	Inflammation or infection of the middle ear.
HP:0000389	Chronic otitis media	Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
HP:0000391	Thickened helices	Increased thickness of the helix of the ear.
HP:0000394	Lop ear	Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.
HP:0000395	Prominent antihelix	The presence of an abnormally prominent antihelix.
HP:0000396	Overfolded helix	A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
HP:0000399	Prelingual sensorineural hearing impairment	A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
HP:0000400	Macrotia	Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
HP:0000402	Stenosis of the external auditory canal	An abnormal narrowing of the external auditory canal.
HP:0000403	Recurrent otitis media	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0000405	Conductive hearing impairment	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000407	Sensorineural hearing impairment	A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
HP:0000408	Progressive sensorineural hearing impairment	A progressive form of sensorineural hearing impairment.
HP:0000410	Mixed hearing impairment	A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
HP:0000411	Protruding ear	Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
HP:0000413	Atresia of the external auditory canal	Absence or failure to form of the external auditory canal.
HP:0000414	Bulbous nose	Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0000415	Abnormality of the choanae	Abnormality of the choanae (the posterior nasal apertures).
HP:0000417	Slender nose	
HP:0000418	Narrow nasal ridge	Decreased width of the nasal ridge.
HP:0000419	Abnormal nasal septum morphology	An abnormality of the nasal septum.
HP:0000420	Short nasal septum	Reduced superior to inferior length of the nasal septum.
HP:0000421	Epistaxis	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
HP:0000422	Abnormal nasal bridge morphology	Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
HP:0000426	Prominent nasal bridge	Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000429	Abnormal morphology of the nasal alae	An abnormality of the Ala of nose.
HP:0000430	Underdeveloped nasal alae	Thinned, deficient, or excessively arched ala nasi.
HP:0000431	Wide nasal bridge	Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0000433	Abnormal nasal mucosa morphology	
HP:0000434	Nasal mucosa telangiectasia	Telangiectasia of the nasal mucosa.
HP:0000436	Abnormal nasal tip morphology	An abnormality of the nasal tip.
HP:0000437	Depressed nasal tip	Decreased distance from the nasal tip to the nasal base.
HP:0000444	Convex nasal ridge	Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
HP:0000445	Wide nose	Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
HP:0000446	Narrow nasal bridge	Decreased width of the bony bridge of the nose.
HP:0000447	Pear-shaped nose	
HP:0000448	Prominent nose	Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
HP:0000451	Triangular nasal tip	
HP:0000452	Choanal stenosis	Abnormal narrowing of the choana (the posterior nasal aperture).
HP:0000453	Choanal atresia	Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.
HP:0000454	Flared nostrils	
HP:0000455	Broad nasal tip	Increase in width of the nasal tip.
HP:0000456	Bifid nasal tip	A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.
HP:0000457	Depressed nasal ridge	Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
HP:0000458	Anosmia	An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
HP:0000460	Narrow nose	Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
HP:0000463	Anteverted nares	Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
HP:0000464	Abnormality of the neck	An abnormality of the neck.
HP:0000465	Webbed neck	Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
HP:0000466	Limited neck range of motion	
HP:0000467	Neck muscle weakness	Decreased strength of the neck musculature.
HP:0000468	Increased adipose tissue around the neck	An increased amount of subcutaneous fat tissue around the neck.
HP:0000470	Short neck	Diminished length of the neck.
HP:0000471	Gastrointestinal angiodysplasia	Dysplasia affecting the vasculature of the gastrointestinal tract.
HP:0000472	Long neck	Increased inferior-superior length of the neck.
HP:0000473	Torticollis	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
HP:0000474	Thickened nuchal skin fold	A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
HP:0000475	Broad neck	Increased side-to-side width of the neck.
HP:0000476	Cystic hygroma	A cystic lymphatic lesion of the neck.
HP:0000478	Abnormality of the eye	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
HP:0000479	Abnormal retinal morphology	A structural abnormality of the retina.
HP:0000480	Retinal coloboma	A notch or cleft of the retina.
HP:0000481	Abnormal cornea morphology	Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
HP:0000482	Microcornea	A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
HP:0000483	Astigmatism	A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
HP:0000484	Hyperopic astigmatism	A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.
HP:0000485	Megalocornea	An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.
HP:0000486	Strabismus	A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
HP:0000488	Retinopathy	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
HP:0000490	Deeply set eye	An eye that is more deeply recessed into the plane of the face than is typical.
HP:0000491	Keratitis	Inflammation of the cornea.
HP:0000492	Abnormal eyelid morphology	An abnormality of the eyelids.
HP:0000493	Abnormal foveal morphology	An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.
HP:0000494	Downslanted palpebral fissures	The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0000495	Recurrent corneal erosions	The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
HP:0000496	Abnormality of eye movement	An abnormality in voluntary or involuntary eye movements or their control.
HP:0000497	Globe retraction and deviation on abduction	
HP:0000498	Blepharitis	Inflammation of the eyelids.
HP:0000499	Abnormal eyelash morphology	An abnormality of the eyelashes.
HP:0000501	Glaucoma	Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
HP:0000502	Abnormal conjunctiva morphology	An abnormality of the conjunctiva.
HP:0000503	Tortuosity of conjunctival vessels	The presence of an increased number of twists and turns of the conjunctival blood vessels.
HP:0000504	Abnormality of vision	Abnormality of eyesight (visual perception).
HP:0000505	Visual impairment	Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
HP:0000506	Telecanthus	Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
HP:0000508	Ptosis	The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
HP:0000509	Conjunctivitis	Inflammation of the conjunctiva.
HP:0000510	Rod-cone dystrophy	An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
HP:0000511	Vertical supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
HP:0000512	Abnormal electroretinogram	Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
HP:0000514	Slow saccadic eye movements	An abnormally slow velocity of the saccadic eye movements.
HP:0000517	Abnormal lens morphology	An abnormality of the lens.
HP:0000518	Cataract	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0000519	Developmental cataract	A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
HP:0000520	Proptosis	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
HP:0000522	Alacrima	Absence of tear secretion.
HP:0000523	Subcapsular cataract	A cataract that affects the region of the lens directly beneath the capsule of the lens.
HP:0000524	Conjunctival telangiectasia	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
HP:0000525	Abnormality iris morphology	An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
HP:0000526	Aniridia	Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.
HP:0000527	Long eyelashes	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
HP:0000528	Anophthalmia	Absence of the globe or eyeball.
HP:0000529	Progressive visual loss	A reduction of previously attained ability to see.
HP:0000531	Corneal crystals	
HP:0000532	Abnormal chorioretinal morphology	An abnormality of the choroid and retina.
HP:0000533	Chorioretinal atrophy	Atrophy of the choroid and retinal layers of the fundus.
HP:0000534	Abnormal eyebrow morphology	An abnormality of the eyebrow.
HP:0000537	Epicanthus inversus	A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.
HP:0000538	Pseudopapilledema	Apparent optic disc swelling in the absence of increased intracranial pressure.
HP:0000539	Abnormality of refraction	An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
HP:0000540	Hypermetropia	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
HP:0000541	Retinal detachment	Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
HP:0000542	Impaired ocular adduction	Reduced ability to move the eye in the direction of the nose.
HP:0000543	Optic disc pallor	A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
HP:0000544	External ophthalmoplegia	Paralysis of the external ocular muscles.
HP:0000545	Myopia	An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
HP:0000546	Retinal degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
HP:0000548	Cone/cone-rod dystrophy	
HP:0000549	Abnormal conjugate eye movement	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
HP:0000550	Undetectable electroretinogram	Lack of any response to stimulation upon electroretinography.
HP:0000551	Color vision defect	An anomaly in the ability to discriminate between or recognize colors.
HP:0000552	Tritanomaly	Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.
HP:0000553	Abnormal uvea morphology	An abnormality of the uvea, the vascular layer of the eyeball.
HP:0000554	Uveitis	Inflammation of one or all portions of the uveal tract.
HP:0000555	Leukocoria	An abnormal white reflection from the pupil rather than the usual black reflection.
HP:0000556	Retinal dystrophy	Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
HP:0000557	Buphthalmos	Diffusely large eye (with megalocornea) associated with glaucoma.
HP:0000558	Rieger anomaly	A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
HP:0000559	Corneal scarring	
HP:0000561	Absent eyelashes	Lack of eyelashes.
HP:0000563	Keratoconus	A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
HP:0000564	Lacrimal duct atresia	A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
HP:0000565	Esotropia	A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
HP:0000567	Chorioretinal coloboma	Absence of a region of the retina, retinal pigment epithelium, and choroid.
HP:0000568	Microphthalmia	A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000570	Abnormal saccadic eye movements	An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
HP:0000571	Hypometric saccades	Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
HP:0000572	Visual loss	Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
HP:0000573	Retinal hemorrhage	Hemorrhage occurring within the retina.
HP:0000574	Thick eyebrow	Increased density/number and/or increased diameter of eyebrow hairs.
HP:0000575	Scotoma	A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
HP:0000576	Centrocecal scotoma	A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.
HP:0000577	Exotropia	A form of strabismus with one or both eyes deviated outward.
HP:0000579	Nasolacrimal duct obstruction	Blockage of the lacrimal duct.
HP:0000580	Pigmentary retinopathy	An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
HP:0000581	Blepharophimosis	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0000582	Upslanted palpebral fissure	The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
HP:0000584	Punctate corneal epithelial erosions	
HP:0000585	Band keratopathy	An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
HP:0000586	Shallow orbits	Reduced depth of the orbits associated with prominent-appearing ocular globes.
HP:0000587	Abnormal optic nerve morphology	Abnormality of the optic nerve.
HP:0000588	Optic disc coloboma	A cleft of the optic nerve that extends inferiorly.
HP:0000589	Coloboma	A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
HP:0000590	Progressive external ophthalmoplegia	Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.
HP:0000591	Abnormal sclera morphology	An abnormality of the sclera.
HP:0000592	Blue sclerae	An abnormal bluish coloration of the sclera.
HP:0000593	Abnormal anterior chamber morphology	Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
HP:0000594	Shallow anterior chamber	Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
HP:0000597	Ophthalmoparesis	Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
HP:0000598	Abnormality of the ear	An abnormality of the ear.
HP:0000599	Abnormality of the frontal hairline	An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.
HP:0000600	Abnormality of the pharynx	An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
HP:0000601	Hypotelorism	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
HP:0000602	Ophthalmoplegia	Paralysis of one or more extraocular muscles that are responsible for eye movements.
HP:0000603	Central scotoma	An area of depressed vision located at the point of fixation and that interferes with central vision.
HP:0000605	Supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
HP:0000606	Abnormality of the periorbital region	An abnormality of the region situated around the orbit of the eye.
HP:0000607	Periorbital wrinkles	
HP:0000608	Macular degeneration	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
HP:0000609	Optic nerve hypoplasia	Underdevelopment of the optic nerve.
HP:0000610	Abnormal choroid morphology	Any structural abnormality of the choroid.
HP:0000612	Iris coloboma	A coloboma of the iris.
HP:0000613	Photophobia	Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
HP:0000614	Abnormal nasolacrimal system morphology	An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.
HP:0000615	Abnormal pupil morphology	An abnormality of the pupil.
HP:0000616	Miosis	Abnormal (non-physiological) constriction of the pupil.
HP:0000617	Abnormality of ocular smooth pursuit	An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
HP:0000618	Blindness	Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
HP:0000619	Impaired convergence	Reduced ability to turn the eyes inward in order to focus on a nearby object.
HP:0000620	Dacryocystitis	Inflammation of the nasolacrimal sac.
HP:0000621	Entropion	An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
HP:0000622	Blurred vision	Lack of sharpness of vision resulting in the inability to see fine detail.
HP:0000623	Supranuclear ophthalmoplegia	A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
HP:0000625	Eyelid coloboma	A short discontinuity of the margin of the lower or upper eyelid.
HP:0000627	Posterior embryotoxon	A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000629	Periorbital fullness	Increase in periorbital soft tissue.
HP:0000630	Abnormal retinal artery morphology	
HP:0000631	Retinal arterial tortuosity	The presence of an increased number of twists and turns of the retinal artery.
HP:0000632	Lacrimation abnormality	Abnormality of tear production.
HP:0000633	Decreased lacrimation	Abnormally decreased lacrimation, that is, reduced ability to produce tears.
HP:0000634	Impaired ocular abduction	An impaired ability of the eye to move in the outward direction (towards the side of the head).
HP:0000635	Blue irides	A markedly blue coloration of the iris.
HP:0000636	Upper eyelid coloboma	A short discontinuity of the margin of the upper eyelid.
HP:0000637	Long palpebral fissure	Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
HP:0000639	Nystagmus	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0000640	Gaze-evoked nystagmus	Nystagmus made apparent by looking to the right or to the left.
HP:0000641	Dysmetric saccades	The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.
HP:0000642	Red-green dyschromatopsia	Difficulty with discriminating red and green hues.
HP:0000643	Blepharospasm	A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
HP:0000646	Amblyopia	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
HP:0000647	Sclerocornea	A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
HP:0000648	Optic atrophy	Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
HP:0000649	Abnormality of visual evoked potentials	An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	
HP:0000651	Diplopia	Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
HP:0000652	Lower eyelid coloboma	A short discontinuity of the margin of the lower eyelid.
HP:0000653	Sparse eyelashes	Decreased density/number of eyelashes.
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	Descreased amplitude of eletrical response upon electroretinography.
HP:0000656	Ectropion	An outward turning (eversion) or rotation of the eyelid margin.
HP:0000657	Oculomotor apraxia	Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
HP:0000658	Eyelid apraxia	
HP:0000659	Peters anomaly	A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
HP:0000660	Lipemia retinalis	A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.
HP:0000661	Palpebral fissure narrowing on adduction	
HP:0000662	Nyctalopia	Inability to see well at night or in poor light.
HP:0000664	Synophrys	Meeting of the medial eyebrows in the midline.
HP:0000666	Horizontal nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements.
HP:0000667	Phthisis bulbi	Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
HP:0000668	Hypodontia	The absence of five or less teeth from the normal series by a failure to develop.
HP:0000670	Carious teeth	Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
HP:0000674	Anodontia	The absence of all teeth from the normal series by a failure to develop.
HP:0000675	Macrodontia of permanent maxillary central incisor	Increased size of the maxillary central secondary incisor tooth.
HP:0000676	Abnormality of the incisor	An abnormality of the Incisor tooth.
HP:0000677	Oligodontia	The absence of six or more teeth from the normal series by a failure to develop.
HP:0000678	Dental crowding	Changes in alignment of teeth in the dental arch
HP:0000679	Taurodontia	Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.
HP:0000680	Delayed eruption of primary teeth	Delayed tooth eruption affecting the primary dentition.
HP:0000682	Abnormal dental enamel morphology	An abnormality of the dental enamel.
HP:0000683	Grayish enamel	A grey discoloration of the dental enamel.
HP:0000684	Delayed eruption of teeth	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
HP:0000685	Hypoplasia of teeth	Developmental hypoplasia of teeth.
HP:0000687	Widely spaced teeth	Increased spaces (diastemata) between most of the teeth in the same dental arch.
HP:0000689	Dental malocclusion	Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
HP:0000690	Agenesis of maxillary lateral incisor	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.
HP:0000691	Microdontia	Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
HP:0000692	Tooth malposition	Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.
HP:0000694	Odontodysplasia	The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.
HP:0000695	Natal tooth	A tooth present at birth or erupting within the first month of life.
HP:0000696	Delayed eruption of permanent teeth	Delayed tooth eruption affecting the secondary dentition.
HP:0000698	Conical tooth	An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
HP:0000699	Diastema	Increased space between two adjacent teeth in the same dental arch.
HP:0000700	Periapical bone loss	Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).
HP:0000703	Dentinogenesis imperfecta	Developmental dysplasia of dentin.
HP:0000704	Periodontitis	Inflammation of the periodontium.
HP:0000705	Amelogenesis imperfecta	A developmental dysplasia of the dental enamel.
HP:0000706	Eruption failure	A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.
HP:0000707	Abnormality of the nervous system	An abnormality of the nervous system.
HP:0000708	Atypical behavior	An abnormality of mental functioning including various affective, behavioral, cognitive, and perceptual abnormalities.
HP:0000709	Psychosis	A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
HP:0000710	Hyperorality	Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.
HP:0000711	Restlessness	A state of unease characterized by diffuse motor activity or motion, subject to limited control, nonproductive, or disorganized behavior.
HP:0000712	Emotional lability	Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
HP:0000713	Agitation	A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.
HP:0000716	Depression	Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
HP:0000717	Autism	Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
HP:0000718	Aggressive behavior	Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
HP:0000719	Inappropriate behavior	
HP:0000721	Lack of spontaneous play	
HP:0000722	Compulsive behaviors	Behavior that consists of repetitive acts that are characterized by the feeling that one 'has to' perform them while one is aware that these acts are not in line with one's overall goal
HP:0000723	Restrictive behavior	Behavior characterized by an abnormal limitation to few interests and activities.
HP:0000725	Psychotic episodes	
HP:0000726	Dementia	A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
HP:0000727	Frontal lobe dementia	
HP:0000728	Impaired ability to form peer relationships	
HP:0000729	Autistic behavior	Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
HP:0000732	Inflexible adherence to routines or rituals	A need to strictly adhere to repetitive routines or patterns of behavior; when one becomes upset or distressed when their routines are disrupted or altered.
HP:0000733	Abnormal repetitive mannerisms	Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
HP:0000734	Disinhibition	A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
HP:0000735	Impaired social interactions	Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.
HP:0000736	Short attention span	Reduced attention span characterized by distractibility and impulsivity.
HP:0000737	Irritability	A proneness to anger, i.e., a condition of being easily bothered or annoyed.
HP:0000738	Hallucinations	Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
HP:0000739	Anxiety	Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
HP:0000740	Episodic paroxysmal anxiety	Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.
HP:0000741	Apathy	
HP:0000742	Self-mutilation	
HP:0000743	Frontal release signs	Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.
HP:0000744	Low frustration tolerance	The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.
HP:0000745	Diminished motivation	A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
HP:0000746	Delusions	A false belief that is held despite evidence to the contrary.
HP:0000748	Inappropriate laughter	
HP:0000749	Paroxysmal bursts of laughter	
HP:0000750	Delayed speech and language development	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0000751	Personality changes	An abnormal shift in patterns of thinking, acting, or feeling.
HP:0000752	Hyperactivity	Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
HP:0000753	Autism with high cognitive abilities	
HP:0000756	Agoraphobia	A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.
HP:0000757	Lack of insight	
HP:0000758	Abnormal nonverbal communicative behavior	Abnormalities in eye contact, communicative facial expressions, gesture use, or use of other's body to communicate. These convey a shared meaning within a culture that replace or supplement verbal communication.
HP:0000759	Abnormal peripheral nervous system morphology	A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).
HP:0000762	Decreased nerve conduction velocity	A reduction in the speed at which electrical signals propagate along the axon of a neuron.
HP:0000763	Sensory neuropathy	Peripheral neuropathy affecting the sensory nerves.
HP:0000764	Peripheral axonal degeneration	Progressive deterioration of peripheral axons.
HP:0000765	Abnormal thorax morphology	Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
HP:0000766	Abnormal sternum morphology	An anomaly of the sternum, also known as the breastbone.
HP:0000767	Pectus excavatum	A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
HP:0000768	Pectus carinatum	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
HP:0000769	Abnormality of the breast	An abnormality of the breast.
HP:0000771	Gynecomastia	Abnormal development of large mammary glands in males resulting in breast enlargement.
HP:0000772	Abnormal rib morphology	An anomaly of the rib.
HP:0000773	Short ribs	Reduced rib length.
HP:0000774	Narrow chest	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
HP:0000775	Abnormality of the diaphragm	Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
HP:0000776	Congenital diaphragmatic hernia	The presence of a hernia of the diaphragm present at birth.
HP:0000777	Abnormality of the thymus	Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
HP:0000778	Hypoplasia of the thymus	Underdevelopment of the thymus.
HP:0000782	Abnormal scapula morphology	Any abnormality of the scapula, also known as the shoulder blade.
HP:0000786	Primary amenorrhea	
HP:0000787	Nephrolithiasis	The presence of calculi (stones) in the kidneys.
HP:0000789	Infertility	
HP:0000790	Hematuria	The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
HP:0000791	Uric acid nephrolithiasis	The presence of uric acid-containing calculi (stones) in the kidneys.
HP:0000793	Membranoproliferative glomerulonephritis	A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity
HP:0000794	IgA deposition in the glomerulus	The presence of immunoglobulin A deposits in the glomerulus.
HP:0000795	Abnormality of the urethra	An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
HP:0000796	Urethral obstruction	Obstruction of the flow of urine through the urethra.
HP:0000798	Oligospermia	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
HP:0000799	Renal steatosis	Abnormal fat accumulation in the kidneys.
HP:0000800	Cystic renal dysplasia	
HP:0000802	Impotence	Inability to develop or maintain an erection of the penis.
HP:0000803	Renal cortical cysts	Cysts of the cortex of the kidney.
HP:0000804	Xanthine nephrolithiasis	The presence of xanthine-containing calculi (stones) in the kidneys.
HP:0000805	Enuresis	Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
HP:0000807	Glandular hypospadias	
HP:0000808	Penoscrotal hypospadias	A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.
HP:0000809	Urinary tract atresia	Congenital absence of the normal opening of a structure of the urinary tract.
HP:0000811	Abnormal external genitalia	
HP:0000812	Abnormal internal genitalia	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
HP:0000813	Bicornuate uterus	The presence of a bicornuate uterus.
HP:0000815	Hypergonadotropic hypogonadism	Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
HP:0000816	Abnormality of Krebs cycle metabolism	An abnormality of the tricarboxylic acid cycle.
HP:0000817	Reduced eye contact	A reduced frequency or duration of eye contact.
HP:0000818	Abnormality of the endocrine system	An abnormality of the endocrine system.
HP:0000819	Diabetes mellitus	A group of abnormalities characterized by hyperglycemia and glucose intolerance.
HP:0000820	Abnormality of the thyroid gland	An abnormality of the thyroid gland.
HP:0000821	Hypothyroidism	Deficiency of thyroid hormone.
HP:0000822	Hypertension	The presence of chronic increased pressure in the systemic arterial system.
HP:0000823	Delayed puberty	Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
HP:0000824	Decreased response to growth hormone stimulation test	Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.
HP:0000825	Hyperinsulinemic hypoglycemia	An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
HP:0000826	Precocious puberty	The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
HP:0000828	Abnormality of the parathyroid gland	An abnormality of the parathyroid gland.
HP:0000829	Hypoparathyroidism	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0000830	Anterior hypopituitarism	A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
HP:0000831	Insulin-resistant diabetes mellitus	A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.
HP:0000832	Primary hypothyroidism	A type of hypothyroidism that results from a defect in the thyroid gland.
HP:0000834	Abnormality of the adrenal glands	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
HP:0000835	Adrenal hypoplasia	Developmental hypoplasia of the adrenal glands.
HP:0000836	Hyperthyroidism	An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
HP:0000837	Increased circulating gonadotropin level	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
HP:0000839	Pituitary dwarfism	A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.
HP:0000840	Adrenogenital syndrome	Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
HP:0000841	Hyperactive renin-angiotensin system	An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
HP:0000842	Hyperinsulinemia	An increased concentration of insulin in the blood.
HP:0000843	Hyperparathyroidism	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
HP:0000845	Elevated circulating growth hormone concentration	Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
HP:0000846	Adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
HP:0000847	Abnormality of renin-angiotensin system	An abnormality of the renin-angiotensin system.
HP:0000848	Increased circulating renin level	An increased level of renin in the blood.
HP:0000849	Adrenocortical abnormality	
HP:0000851	Congenital hypothyroidism	A type of hypothyroidism with congenital onset.
HP:0000852	Pseudohypoparathyroidism	A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.
HP:0000853	Goiter	An enlargement of the thyroid gland.
HP:0000854	Thyroid adenoma	The presence of a adenoma of the thyroid gland.
HP:0000855	Insulin resistance	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
HP:0000857	Neonatal insulin-dependent diabetes mellitus	
HP:0000858	Irregular menstruation	Abnormally high variation in the amount of time between periods.
HP:0000859	Hyperaldosteronism	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
HP:0000860	Parathyroid hypoplasia	Developmental hypoplasia of the parathyroid gland.
HP:0000863	Central diabetes insipidus	A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.
HP:0000864	Abnormality of the hypothalamus-pituitary axis	Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
HP:0000866	Euthyroid multinodular goiter	
HP:0000867	Secondary hyperparathyroidism	Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.
HP:0000868	Decreased fertility in females	
HP:0000869	Secondary amenorrhea	
HP:0000870	Increased circulating prolactin concentration	The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
HP:0000871	Panhypopituitarism	A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
HP:0000872	Hashimoto thyroiditis	A chronic, autoimmune type of thyroiditis associated with hypothyroidism.
HP:0000873	Diabetes insipidus	A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
HP:0000875	Episodic hypertension	
HP:0000876	Oligomenorrhea	Infrequent menses (less than 6 per year or more than 35 days between cycles).
HP:0000877	Insulin-resistant diabetes mellitus at puberty	
HP:0000878	11 pairs of ribs	Presence of only 11 pairs of ribs.
HP:0000879	Short sternum	Decreased inferosuperior length of the sternum.
HP:0000882	Hypoplastic scapulae	Underdeveloped scapula.
HP:0000883	Thin ribs	Ribs with a reduced diameter.
HP:0000884	Prominent sternum	
HP:0000885	Broad ribs	Increased width of ribs
HP:0000886	Deformed rib cage	Malformation of the rib cage.
HP:0000887	Cupped ribs	Wide, concave rib end.
HP:0000888	Horizontal ribs	A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.
HP:0000889	Abnormal clavicle morphology	Any abnormality of the clavicles (collar bones).
HP:0000890	Long clavicles	Increased length of the clavicles.
HP:0000891	Cervical ribs	
HP:0000892	Bifid ribs	A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
HP:0000893	Bulging of the costochondral junction	Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.
HP:0000894	Short clavicles	Reduced length of the clavicles.
HP:0000895	Lateral clavicle hook	An excessive upward convexity of the lateral clavicle.
HP:0000896	Rib exostoses	Multiple circumscribed bony excrescences located in the ribs.
HP:0000897	Rachitic rosary	A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.
HP:0000900	Thickened ribs	Increased thickness (diameter) of ribs.
HP:0000902	Rib fusion	Complete or partial merging of adjacent ribs.
HP:0000904	Flaring of rib cage	The presence of wide, concave anterior rib ends.
HP:0000905	Progressive clavicular acroosteolysis	Progressive bone resorption in the distal part of the clavicle.
HP:0000907	Anterior rib cupping	Wide, concave anterior rib end.
HP:0000910	Wide-cupped costochondral junctions	
HP:0000911	Flat glenoid fossa	Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
HP:0000912	Sprengel anomaly	A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
HP:0000913	Posterior rib fusion	Complete or partial merging of the posterior part of adjacent ribs.
HP:0000914	Shield chest	A broad chest.
HP:0000915	Pectus excavatum of inferior sternum	Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.
HP:0000916	Broad clavicles	Increased width (cross-sectional diameter) of the clavicles.
HP:0000917	Superior pectus carinatum	Pectus carinatum affecting primarily the superior part of the sternum.
HP:0000918	Scapular exostoses	The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.
HP:0000919	Abnormality of the costochondral junction	Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
HP:0000920	Enlargement of the costochondral junction	Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
HP:0000921	Missing ribs	A developmental anomaly with absence of one or more ribs.
HP:0000922	Posterior rib cupping	Wide, concave posterior rib end.
HP:0000923	Beaded ribs	The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.
HP:0000924	Abnormality of the skeletal system	An abnormality of the skeletal system.
HP:0000925	Abnormality of the vertebral column	Any abnormality of the vertebral column.
HP:0000926	Platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates.
HP:0000927	Abnormality of skeletal maturation	The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.
HP:0000929	Abnormal skull morphology	An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.
HP:0000930	Elevated imprint of the transverse sinuses	
HP:0000931	Thinning and bulging of the posterior fossa bones	
HP:0000932	Abnormal posterior cranial fossa morphology	An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.
HP:0000933	Posterior fossa cyst at the fourth ventricle	
HP:0000934	Chondrocalcinosis	Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
HP:0000935	Thickened cortex of long bones	Abnormal thickening of the cortex of long bones.
HP:0000938	Osteopenia	Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
HP:0000939	Osteoporosis	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
HP:0000940	Abnormal diaphysis morphology	An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
HP:0000941	Short diaphyses	
HP:0000943	Dysostosis multiplex	
HP:0000944	Abnormal metaphysis morphology	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
HP:0000946	Hypoplastic ilia	Underdevelopment of the ilium.
HP:0000947	Dumbbell-shaped long bone	An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
HP:0000951	Abnormality of the skin	An abnormality of the skin.
HP:0000952	Jaundice	Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
HP:0000953	Hyperpigmentation of the skin	A darkening of the skin related to an increase in melanin production and deposition.
HP:0000954	Single transverse palmar crease	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
HP:0000956	Acanthosis nigricans	A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
HP:0000957	Cafe-au-lait spot	Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
HP:0000958	Dry skin	Skin characterized by the lack of natural or normal moisture.
HP:0000960	Sacral dimple	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
HP:0000961	Cyanosis	Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
HP:0000962	Hyperkeratosis	Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
HP:0000963	Thin skin	Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
HP:0000964	Eczema	Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
HP:0000965	Cutis marmorata	A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
HP:0000966	Hypohidrosis	Abnormally diminished capacity to sweat.
HP:0000967	Petechiae	Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
HP:0000968	Ectodermal dysplasia	Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
HP:0000969	Edema	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
HP:0000970	Anhidrosis	Inability to sweat.
HP:0000971	Abnormal sweat gland morphology	Any structural abnormality of the sweat gland.
HP:0000972	Palmoplantar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
HP:0000973	Cutis laxa	Wrinkled, redundant, inelastic and sagging skin.
HP:0000974	Hyperextensible skin	A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
HP:0000975	Hyperhidrosis	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
HP:0000976	Eczematoid dermatitis	
HP:0000977	Soft skin	Subjective impression of increased softness upon palpation of the skin.
HP:0000978	Bruising susceptibility	An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
HP:0000979	Purpura	Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
HP:0000980	Pallor	Abnormally pale skin.
HP:0000982	Palmoplantar keratoderma	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
HP:0000987	Atypical scarring of skin	Atypically scarred skin .
HP:0000988	Skin rash	A red eruption of the skin.
HP:0000989	Pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
HP:0000991	Xanthomatosis	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
HP:0000992	Cutaneous photosensitivity	An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
HP:0000993	Molluscoid pseudotumors	Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
HP:0000995	Melanocytic nevus	A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
HP:0000996	Facial capillary hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.
HP:0000997	Axillary freckling	The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
HP:0000998	Hypertrichosis	Hypertrichosis is increased hair growth that is abnormal in quantity or location.
HP:0000999	Pyoderma	Any manifestation of a skin disease associated with the production of pus.
HP:0001000	Abnormality of skin pigmentation	An abnormality of the pigmentation of the skin.
HP:0001001	Abnormality of subcutaneous fat tissue	
HP:0001003	Multiple lentigines	Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
HP:0001004	Lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
HP:0001005	Dermatological manifestations of systemic disorders	
HP:0001007	Hirsutism	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
HP:0001008	Accumulation of melanosomes in melanocytes	
HP:0001009	Telangiectasia	Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
HP:0001010	Hypopigmentation of the skin	A reduction of skin color related to a decrease in melanin production and deposition.
HP:0001012	Multiple lipomas	The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
HP:0001013	Eruptive xanthomas	Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.
HP:0001014	Angiokeratoma	Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
HP:0001015	Prominent superficial veins	A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
HP:0001017	Anemic pallor	A type of pallor that is secondary to the presence of anemia.
HP:0001018	Abnormal palmar dermatoglyphics	An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
HP:0001019	Erythroderma	An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
HP:0001022	Albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
HP:0001024	Skin dimple over apex of long bone angulation	
HP:0001025	Urticaria	Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
HP:0001026	Penetrating foot ulcers	
HP:0001027	Soft, doughy skin	A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
HP:0001028	Hemangioma	A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
HP:0001029	Poikiloderma	Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
HP:0001030	Fragile skin	Skin that splits easily with minimal injury.
HP:0001031	Subcutaneous lipoma	The presence of subcutaneous lipoma.
HP:0001032	Absent distal interphalangeal creases	Absence of the distal interphalangeal flexion creases of the fingers.
HP:0001033	Facial flushing after alcohol intake	
HP:0001034	Hypermelanotic macule	A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
HP:0001036	Parakeratosis	Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
HP:0001038	Warfarin-induced skin necrosis	
HP:0001039	Atheroeruptive xanthoma	
HP:0001040	Multiple pterygia	
HP:0001041	Facial erythema	Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0001042	High axial triradius	
HP:0001043	Prominent scalp veins	
HP:0001045	Vitiligo	
HP:0001046	Intermittent jaundice	Jaundice that is sometimes present, sometimes not.
HP:0001047	Atopic dermatitis	Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
HP:0001048	Cavernous hemangioma	The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
HP:0001049	Absent dorsal skin creases over affected joints	
HP:0001050	Plethora	
HP:0001051	Seborrheic dermatitis	Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
HP:0001052	Nevus flammeus	A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
HP:0001053	Hypopigmented skin patches	
HP:0001054	Numerous nevi	
HP:0001055	Erysipelas	Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.
HP:0001056	Milia	Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
HP:0001057	Aplasia cutis congenita	A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
HP:0001058	Poor wound healing	A reduced ability to heal cutaneous wounds.
HP:0001059	Pterygium	Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
HP:0001060	Axillary pterygium	Presence of a cutaneous membrane (flap) in the armpit.
HP:0001061	Acne	A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
HP:0001062	Atypical nevus	A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.
HP:0001063	Acrocyanosis	Bluish discoloration of the skin of the hands or feet.
HP:0001065	Striae distensae	Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
HP:0001067	Neurofibromas	The presence of multiple cutaneous neurofibromas.
HP:0001069	Episodic hyperhidrosis	Intermittent episodes of abnormally increased perspiration.
HP:0001070	Mottled pigmentation	Patchy and irregular skin pigmentation.
HP:0001071	Angiokeratoma corporis diffusum	Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.
HP:0001072	Thickened skin	Laminar thickening of skin.
HP:0001073	Cigarette-paper scars	Thin (atrophic) and wide scars.
HP:0001074	Atypical nevi in non-sun exposed areas	
HP:0001075	Atrophic scars	Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
HP:0001076	Glabellar hemangioma	
HP:0001080	Biliary tract abnormality	An abnormality of the biliary tree.
HP:0001081	Cholelithiasis	Hard, pebble-like deposits that form within the gallbladder.
HP:0001082	Cholecystitis	The presence of inflammatory changes in the gallbladder.
HP:0001083	Ectopia lentis	Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
HP:0001084	Corneal arcus	A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
HP:0001085	Papilledema	Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
HP:0001087	Developmental glaucoma	Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.
HP:0001088	Brushfield spots	The presence of whitish spots in a ring-like arrangement at the periphery of the iris.
HP:0001089	Iris atrophy	Loss of iris tissue (atrophy)
HP:0001090	Abnormally large globe	Diffusely large eye (with megalocornea) without glaucoma.
HP:0001092	Absent lacrimal punctum	No identifiable superior and/or inferior lacrimal punctum.
HP:0001093	Optic nerve dysplasia	The presence of developmental dysplasia of the optic nerve.
HP:0001094	Iridocyclitis	A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.
HP:0001095	Hypertensive retinopathy	
HP:0001096	Keratoconjunctivitis	Inflammation of the cornea and conjunctiva.
HP:0001097	Keratoconjunctivitis sicca	Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
HP:0001098	Abnormal fundus morphology	Any structural abnormality of the fundus of the eye.
HP:0001099	Fundus atrophy	
HP:0001100	Heterochromia iridis	Heterochromia iridis is a difference in the color of the iris in the two eyes.
HP:0001101	Iritis	Inflammation of the iris.
HP:0001102	Angioid streaks of the fundus	Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.
HP:0001103	Abnormal macular morphology	A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.
HP:0001104	Macular hypoplasia	Underdevelopment of the macula lutea.
HP:0001105	Retinal atrophy	Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
HP:0001106	Periorbital hyperpigmentation	Increased pigmentation of the skin in the region surrounding the orbit of the eye.
HP:0001107	Ocular albinism	An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
HP:0001112	Leber optic atrophy	Degeneration of retinal ganglion cells and their axons.
HP:0001114	Xanthelasma	The presence of xanthomata in the skin of the eyelid.
HP:0001115	Posterior polar cataract	A polar cataract that affects the posterior pole of the lens.
HP:0001116	Macular coloboma	A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.
HP:0001117	Sudden loss of visual acuity	Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.
HP:0001118	Juvenile cataract	A type of cataract that is not apparent at birth but that arises in childhood or adolescence.
HP:0001119	Keratoglobus	Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.
HP:0001120	Abnormality of corneal size	Any abnormality of the size or morphology of the cornea.
HP:0001123	Visual field defect	
HP:0001125	Transient unilateral blurring of vision	Transient blurring of vision associated with the aura phase of migraine.
HP:0001126	Cryptophthalmos	Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
HP:0001128	Trichiasis	Inversion and rubbing of the eyelashes against the globe of the eye.
HP:0001129	Large central visual field defect	
HP:0001131	Corneal dystrophy	The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
HP:0001132	Lens subluxation	Partial dislocation of the lens of the eye.
HP:0001133	Constriction of peripheral visual field	An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
HP:0001134	Anterior polar cataract	A polar cataract that affects the anterior pole of the lens.
HP:0001135	Chorioretinal dystrophy	
HP:0001136	Retinal arteriolar tortuosity	The presence of an increased number of twists and turns of the retinal arterioles.
HP:0001137	Alternating esotropia	Esotropia in which either eye may be used for fixation.
HP:0001138	Optic neuropathy	
HP:0001139	Choroideremia	
HP:0001140	Limbal dermoid	A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
HP:0001141	Severely reduced visual acuity	Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).
HP:0001142	Lenticonus	A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
HP:0001144	Orbital cyst	Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).
HP:0001147	Retinal exudate	Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.
HP:0001149	Lattice corneal dystrophy	The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
HP:0001151	Impaired horizontal smooth pursuit	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
HP:0001152	Saccadic smooth pursuit	An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
HP:0001153	Septate vagina	The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
HP:0001155	Abnormality of the hand	An abnormality affecting one or both hands.
HP:0001156	Brachydactyly	Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
HP:0001159	Syndactyly	Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
HP:0001161	Hand polydactyly	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0001162	Postaxial hand polydactyly	Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
HP:0001163	Abnormality of the metacarpal bones	
HP:0001166	Arachnodactyly	Abnormally long and slender fingers ("spider fingers").
HP:0001167	Abnormal finger morphology	An anomaly of a finger.
HP:0001169	Broad palm	For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
HP:0001171	Split hand	A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
HP:0001172	Abnormal thumb morphology	An abnormal structure of the first digit of the hand.
HP:0001176	Large hands	
HP:0001177	Preaxial hand polydactyly	Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
HP:0001178	Ulnar claw	An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
HP:0001180	Hand oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of fingers.
HP:0001181	Adducted thumb	In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
HP:0001182	Tapered finger	The gradual reduction in girth of the finger from proximal to distal.
HP:0001187	Hyperextensibility of the finger joints	The ability of the finger joints to move beyond their normal range of motion.
HP:0001188	Hand clenching	An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.
HP:0001191	Abnormal carpal morphology	An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
HP:0001193	Ulnar deviation of the hand or of fingers of the hand	
HP:0001194	Abnormalities of placenta or umbilical cord	An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).
HP:0001195	Single umbilical artery	Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
HP:0001196	Short umbilical cord	Decreased length of the umbilical cord.
HP:0001197	Abnormality of prenatal development or birth	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
HP:0001199	Triphalangeal thumb	A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
HP:0001204	Distal symphalangism of hands	The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.
HP:0001211	Abnormal fingertip morphology	An abnormal structure of the tip (end) of a finger.
HP:0001212	Prominent fingertip pads	A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
HP:0001215	Camptodactyly of 2nd-5th fingers	The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0001216	Delayed ossification of carpal bones	Ossification of carpal bones occurs later than age-adjusted norms.
HP:0001217	Clubbing	Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
HP:0001218	Autoamputation	Spontaneous detachment (amputation) of an appendage from the body.
HP:0001220	Interphalangeal joint contracture of finger	Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
HP:0001222	Spatulate thumbs	Spoon-shaped, broad thumbs.
HP:0001223	Pointed proximal second through fifth metacarpals	All of the metacarpal bones of the hand have a pointed proximal appearance.
HP:0001225	Wrist swelling	
HP:0001227	Abnormality of the thenar eminence	An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.
HP:0001230	Broad metacarpals	Abnormally broad metacarpal bones.
HP:0001231	Abnormal fingernail morphology	An abnormality of the fingernails.
HP:0001232	Nail bed telangiectasia	Telangiectases in the area of the nails.
HP:0001233	2-3 finger syndactyly	Syndactyly with fusion of fingers two and three.
HP:0001234	Hitchhiker thumb	With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
HP:0001238	Slender finger	Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
HP:0001239	Wrist flexion contracture	A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
HP:0001241	Capitate-hamate fusion	
HP:0001245	Small thenar eminence	Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.
HP:0001248	Short tubular bones of the hand	Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
HP:0001249	Intellectual disability	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
HP:0001250	Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
HP:0001251	Ataxia	Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
HP:0001252	Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
HP:0001254	Lethargy	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
HP:0001256	Intellectual disability, mild	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0001257	Spasticity	A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
HP:0001258	Spastic paraplegia	Spasticity and weakness of the leg and hip muscles.
HP:0001259	Coma	Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
HP:0001260	Dysarthria	Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
HP:0001262	Excessive daytime somnolence	A state of abnormally strong desire for sleep during the daytime.
HP:0001263	Global developmental delay	A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
HP:0001264	Spastic diplegia	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
HP:0001265	Hyporeflexia	Reduction of neurologic reflexes such as the knee-jerk reaction.
HP:0001266	Choreoathetosis	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
HP:0001268	Mental deterioration	Loss of previously present mental abilities, generally in adults.
HP:0001269	Hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
HP:0001270	Motor delay	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0001271	Polyneuropathy	A generalized disorder of peripheral nerves.
HP:0001272	Cerebellar atrophy	Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
HP:0001273	Abnormal corpus callosum morphology	Abnormality of the corpus callosum.
HP:0001274	Agenesis of corpus callosum	Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
HP:0001276	Hypertonia	A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
HP:0001278	Orthostatic hypotension	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
HP:0001279	Syncope	Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
HP:0001281	Tetany	A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0001283	Bulbar palsy	Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
HP:0001284	Areflexia	Absence of neurologic reflexes such as the knee-jerk reaction.
HP:0001285	Spastic tetraparesis	Spastic weakness affecting all four limbs.
HP:0001287	Meningitis	Inflammation of the meninges.
HP:0001288	Gait disturbance	The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
HP:0001289	Confusion	Lack of clarity and coherence of thought, perception, understanding, or action.
HP:0001290	Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).
HP:0001291	Abnormal cranial nerve morphology	Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
HP:0001293	Cranial nerve compression	
HP:0001297	Stroke	Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
HP:0001298	Encephalopathy	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
HP:0001300	Parkinsonism	Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
HP:0001301	Chronic sensorineural polyneuropathy	
HP:0001302	Pachygyria	Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
HP:0001304	Torsion dystonia	Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
HP:0001305	Dandy-Walker malformation	A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
HP:0001308	Tongue fasciculations	Fasciculations or fibrillation affecting the tongue muscle.
HP:0001310	Dysmetria	A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
HP:0001311	Abnormal nervous system electrophysiology	An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
HP:0001312	Giant somatosensory evoked potentials	An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.
HP:0001315	Reduced tendon reflexes	Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
HP:0001317	Abnormal cerebellum morphology	Any structural abnormality of the cerebellum.
HP:0001319	Neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
HP:0001320	Cerebellar vermis hypoplasia	Underdevelopment of the vermis of cerebellum.
HP:0001321	Cerebellar hypoplasia	Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
HP:0001324	Muscle weakness	Reduced strength of muscles.
HP:0001325	Hypoglycemic coma	
HP:0001326	EEG with irregular generalized spike and wave complexes	EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.
HP:0001327	Photosensitive myoclonic seizure	Generalised myoclonic seizure provoked by flashing or flickering light.
HP:0001328	Specific learning disability	Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
HP:0001331	Absent septum pellucidum	Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.
HP:0001332	Dystonia	An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
HP:0001334	Communicating hydrocephalus	A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
HP:0001335	Bimanual synkinesia	Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.
HP:0001336	Myoclonus	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
HP:0001337	Tremor	An unintentional, oscillating to-and-fro muscle movement about a joint axis.
HP:0001338	Partial agenesis of the corpus callosum	A partial failure of the development of the corpus callosum.
HP:0001339	Lissencephaly	A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
HP:0001340	Enhancement of the C-reflex	Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
HP:0001341	Olfactory lobe agenesis	
HP:0001342	Cerebral hemorrhage	Hemorrhage into the parenchyma of the brain.
HP:0001343	Kernicterus	Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
HP:0001344	Absent speech	Complete lack of development of speech and language abilities.
HP:0001345	Psychotic mentation	
HP:0001347	Hyperreflexia	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
HP:0001348	Brisk reflexes	Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
HP:0001349	Facial diplegia	Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
HP:0001350	Slurred speech	Abnormal coordination of muscles involved in speech.
HP:0001351	Jerk-locked premyoclonus spikes	Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
HP:0001355	Megalencephaly	Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
HP:0001357	Plagiocephaly	Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
HP:0001360	Holoprosencephaly	Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
HP:0001361	Nystagmus-induced head nodding	Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.
HP:0001362	Calvarial skull defect	A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
HP:0001363	Craniosynostosis	Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
HP:0001367	Abnormal joint morphology	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
HP:0001369	Arthritis	Inflammation of a joint.
HP:0001370	Rheumatoid arthritis	Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.
HP:0001371	Flexion contracture	A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
HP:0001373	Joint dislocation	Displacement or malalignment of joints.
HP:0001374	Congenital hip dislocation	
HP:0001376	Limitation of joint mobility	A reduction in the freedom of movement of one or more joints.
HP:0001377	Limited elbow extension	Limited ability to straighten the arm at the elbow joint.
HP:0001382	Joint hypermobility	The ability of a joint to move beyond its normal range of motion.
HP:0001384	Abnormal hip joint morphology	An abnormality of the hip joint.
HP:0001385	Hip dysplasia	The presence of developmental dysplasia of the hip.
HP:0001386	Joint swelling	
HP:0001387	Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
HP:0001388	Joint laxity	Lack of stability of a joint.
HP:0001392	Abnormality of the liver	An abnormality of the liver.
HP:0001394	Cirrhosis	A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
HP:0001395	Hepatic fibrosis	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
HP:0001396	Cholestasis	Impairment of bile flow due to obstruction in bile ducts.
HP:0001397	Hepatic steatosis	Steatosis is a term used to denote lipid accumulation within hepatocytes.
HP:0001399	Hepatic failure	
HP:0001401	Intrahepatic biliary dysgenesis	
HP:0001402	Hepatocellular carcinoma	A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
HP:0001403	Macrovesicular hepatic steatosis	A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.
HP:0001404	Hepatocellular necrosis	
HP:0001405	Periportal fibrosis	The presence of fibrosis affecting the interlobular stroma of liver.
HP:0001406	Intrahepatic cholestasis	Impairment of bile flow due to obstruction in the small bile ducts within the liver.
HP:0001407	Hepatic cysts	
HP:0001408	Bile duct proliferation	Proliferative changes of the bile ducts.
HP:0001409	Portal hypertension	Increased pressure in the portal vein.
HP:0001410	Decreased liver function	Reduced ability of the liver to perform its functions.
HP:0001412	Enteroviral hepatitis	Inflammation of the liver due to infection with enterovirus.
HP:0001413	Micronodular cirrhosis	A type of cirrhosis characterized by the presence of small regenerative nodules.
HP:0001414	Microvesicular hepatic steatosis	A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
HP:0001417	X-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
HP:0001419	X-linked recessive inheritance	A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
HP:0001421	Abnormality of the musculature of the hand	
HP:0001423	X-linked dominant inheritance	A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
HP:0001426	Multifactorial inheritance	A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
HP:0001427	Mitochondrial inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
HP:0001428	Somatic mutation	A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
HP:0001430	Abnormality of the calf musculature	
HP:0001433	Hepatosplenomegaly	Simultaneous enlargement of the liver and spleen.
HP:0001435	Abnormality of the shoulder girdle musculature	
HP:0001436	Abnormality of the foot musculature	An anomaly of the musculature of foot.
HP:0001437	Abnormality of the musculature of the lower limbs	
HP:0001438	Abnormal abdomen morphology	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
HP:0001440	Metatarsal synostosis	
HP:0001441	Abnormality of the musculature of the thigh	
HP:0001442	Somatic mosaicism	The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.
HP:0001443	Abnormality of the gluteal musculature	
HP:0001444	Autosomal dominant somatic cell mutation	Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.
HP:0001445	Abnormality of the hip-girdle musculature	
HP:0001446	Abnormality of the musculature of the upper limbs	
HP:0001449	Duplication of metatarsal bones	
HP:0001450	Y-linked inheritance	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
HP:0001454	Abnormality of the upper arm	
HP:0001457	Abnormality of the musculature of the upper arm	
HP:0001459	1-3 toe syndactyly	Syndactyly with fusion of toes one to three.
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	Absence or underdevelopment of the musculature.
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	Absence or underdevelopment of the muscles of the shoulder.
HP:0001465	Amyotrophy involving the shoulder musculature	
HP:0001466	Contiguous gene syndrome	A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	Absence or underdevelopment of the musculature of the upper limbs.
HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	Absence or underdevelopment of the muscles of the upper arm.
HP:0001469	Abnormal morphology of the pelvis musculature	
HP:0001470	Sex-limited expression	Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex.
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	
HP:0001473	Metatarsal osteolysis	Osteolysis involving metatarsal bones.
HP:0001474	Sclerotic scapulae	Increased density of the bony tissue of the scapula.
HP:0001475	Male-limited expression	Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex.
HP:0001476	Delayed closure of the anterior fontanelle	A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
HP:0001477	Compensatory chin elevation	A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.
HP:0001480	Freckling	The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
HP:0001482	Subcutaneous nodule	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
HP:0001483	Eye poking	Repetitive pressing, poking, and/or rubbing in the eyes.
HP:0001488	Bilateral ptosis	
HP:0001489	Posterior vitreous detachment	Separation of the vitreous humor from the retina.
HP:0001491	Congenital fibrosis of extraocular muscles	Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.
HP:0001492	Axenfeld anomaly	Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
HP:0001493	Falciform retinal fold	An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.
HP:0001495	Carpal osteolysis	Osteolysis affecting carpal bones.
HP:0001498	Carpal bone hypoplasia	Underdevelopment of one or more carpal bones.
HP:0001500	Broad finger	Increased width of a non-thumb digit of the hand.
HP:0001501	6 metacarpals	
HP:0001504	Metacarpal osteolysis	
HP:0001507	Growth abnormality	
HP:0001508	Failure to thrive	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0001510	Growth delay	A deficiency or slowing down of growth pre- and postnatally.
HP:0001511	Intrauterine growth retardation	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0001513	Obesity	Accumulation of substantial excess body fat.
HP:0001518	Small for gestational age	Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
HP:0001519	Disproportionate tall stature	A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
HP:0001520	Large for gestational age	The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
HP:0001522	Death in infancy	Death within the first 24 months of life.
HP:0001525	Severe failure to thrive	
HP:0001528	Hemihypertrophy	Overgrowth of only one side of the body.
HP:0001530	Mild postnatal growth retardation	A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.
HP:0001531	Failure to thrive in infancy	
HP:0001533	Slender build	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
HP:0001537	Umbilical hernia	Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
HP:0001538	Protuberant abdomen	A thrusting or bulging out of the abdomen.
HP:0001539	Omphalocele	A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
HP:0001540	Diastasis recti	A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
HP:0001541	Ascites	Accumulation of fluid in the peritoneal cavity.
HP:0001543	Gastroschisis	A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.
HP:0001544	Prominent umbilicus	Abnormally prominent umbilicus (belly button).
HP:0001545	Anteriorly placed anus	Anterior malposition of the anus.
HP:0001547	Abnormal rib cage morphology	A morphological anomaly of the rib cage.
HP:0001548	Overgrowth	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
HP:0001549	Abnormal ileum morphology	
HP:0001551	Abnormal umbilicus morphology	An abnormality of the structure or appearance of the umbilicus.
HP:0001552	Barrel-shaped chest	A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
HP:0001555	Asymmetry of the thorax	Lack of symmetry between the left and right halves of the thorax.
HP:0001557	Prenatal movement abnormality	An abnormality of fetal movement.
HP:0001558	Decreased fetal movement	An abnormal reduction in quantity or strength of fetal movements.
HP:0001560	Abnormality of the amniotic fluid	Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.
HP:0001561	Polyhydramnios	The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0001562	Oligohydramnios	Diminished amniotic fluid volume in pregnancy.
HP:0001563	Fetal polyuria	Abnormally increased production of urine by the fetus resulting in polyhydramnios.
HP:0001566	Widely-spaced maxillary central incisors	Increased distance between the maxillary central permanent incisor tooth.
HP:0001571	Multiple impacted teeth	The presence of multiple impacted teeth.
HP:0001572	Macrodontia	Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
HP:0001574	Abnormality of the integument	An abnormality of the integument, which consists of the skin and the superficial fascia.
HP:0001579	Primary hypercortisolism	Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
HP:0001580	Pigmented micronodular adrenocortical disease	
HP:0001581	Recurrent skin infections	Infections of the skin that happen multiple times.
HP:0001582	Redundant skin	Loose and sagging skin often associated with loss of skin elasticity.
HP:0001583	Rotary nystagmus	A form of nystagmus in which the eyeball makes rotary motions around the axis.
HP:0001586	Vesicovaginal fistula	The presence of a fistula connecting the urinary bladder to the vagina.
HP:0001591	Bell-shaped thorax	The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
HP:0001592	Selective tooth agenesis	Agenesis specifically affecting one of the classes incisor, premolar, or molar.
HP:0001593	Maxillary lateral incisor microdontia	Decreased size of the maxillary permanent incisor.
HP:0001595	Abnormal hair morphology	An abnormality of the hair.
HP:0001596	Alopecia	A noncongenital process of hair loss, which may progress to partial or complete baldness.
HP:0001597	Abnormality of the nail	Abnormality of the nail.
HP:0001598	Concave nail	The natural longitudinal (posterodistal) convex arch is not present or is inverted.
HP:0001600	Abnormality of the larynx	An abnormality of the larynx.
HP:0001601	Laryngomalacia	Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
HP:0001602	Laryngeal stenosis	Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.
HP:0001604	Vocal cord paresis	Decreased strength of the vocal folds.
HP:0001605	Vocal cord paralysis	A loss of the ability to move the vocal folds.
HP:0001607	Subglottic stenosis	
HP:0001608	Abnormality of the voice	
HP:0001609	Hoarse voice	Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
HP:0001611	Hypernasal speech	A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
HP:0001612	Weak cry	
HP:0001615	Hoarse cry	
HP:0001618	Dysphonia	Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.
HP:0001620	High pitched voice	An abnormal increase in the pitch (frequency) of the voice.
HP:0001621	Weak voice	Reduced intensity (volume) of speech.
HP:0001622	Premature birth	The birth of a baby of less than 37 weeks of gestational age.
HP:0001623	Breech presentation	A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
HP:0001626	Abnormality of the cardiovascular system	Any abnormality of the cardiovascular system.
HP:0001627	Abnormal heart morphology	Any structural anomaly of the heart.
HP:0001629	Ventricular septal defect	A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
HP:0001631	Atrial septal defect	Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
HP:0001633	Abnormal mitral valve morphology	Any structural anomaly of the mitral valve.
HP:0001634	Mitral valve prolapse	One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
HP:0001635	Congestive heart failure	The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
HP:0001636	Tetralogy of Fallot	A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
HP:0001637	Abnormal myocardium morphology	A structural anomaly of the muscle layer of the heart wall.
HP:0001638	Cardiomyopathy	A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
HP:0001639	Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
HP:0001640	Cardiomegaly	Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
HP:0001641	Abnormal pulmonary valve morphology	Any structural abnormality of the pulmonary valve.
HP:0001642	Pulmonic stenosis	A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
HP:0001643	Patent ductus arteriosus	In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
HP:0001644	Dilated cardiomyopathy	Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
HP:0001645	Sudden cardiac death	The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
HP:0001646	Abnormal aortic valve morphology	Any abnormality of the aortic valve.
HP:0001647	Bicuspid aortic valve	The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).
HP:0001648	Cor pulmonale	Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
HP:0001649	Tachycardia	A rapid heartrate that exceeds the range of the normal resting heartrate for age.
HP:0001650	Aortic valve stenosis	The presence of a stenosis (narrowing) of the aortic valve.
HP:0001651	Dextrocardia	The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
HP:0001653	Mitral regurgitation	An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
HP:0001654	Abnormal heart valve morphology	Any structural abnormality of a cardiac valve.
HP:0001655	Patent foramen ovale	Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
HP:0001657	Prolonged QT interval	Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
HP:0001658	Myocardial infarction	Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
HP:0001659	Aortic regurgitation	An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
HP:0001660	Truncus arteriosus	A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
HP:0001662	Bradycardia	A slower than normal heart rate (in adults, slower than 60 beats per minute).
HP:0001663	Ventricular fibrillation	Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
HP:0001664	Torsade de pointes	A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
HP:0001667	Right ventricular hypertrophy	In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
HP:0001669	Transposition of the great arteries	A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.
HP:0001670	Asymmetric septal hypertrophy	Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
HP:0001671	Abnormal cardiac septum morphology	An anomaly of the intra-atrial or intraventricular septum.
HP:0001674	Complete atrioventricular canal defect	A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
HP:0001677	Coronary artery atherosclerosis	Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
HP:0001678	Atrioventricular block	Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
HP:0001679	Abnormal aortic morphology	An abnormality of the aorta.
HP:0001680	Coarctation of aorta	Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
HP:0001681	Angina pectoris	Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
HP:0001682	Subvalvular aortic stenosis	A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
HP:0001683	Ectopia cordis	Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.
HP:0001684	Secundum atrial septal defect	A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
HP:0001685	Myocardial fibrosis	Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.
HP:0001686	Loss of voice	
HP:0001688	Sinus bradycardia	Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
HP:0001691	Muscular subvalvular aortic stenosis	A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.
HP:0001692	Atrial arrhythmia	A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
HP:0001693	Cardiac shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.
HP:0001694	Right-to-left shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
HP:0001695	Cardiac arrest	An abrupt loss of heart function.
HP:0001696	Situs inversus totalis	A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
HP:0001697	Abnormal pericardium morphology	An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.
HP:0001698	Pericardial effusion	Accumulation of fluid within the pericardium.
HP:0001699	Sudden death	Rapid and unexpected death.
HP:0001700	Myocardial necrosis	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).
HP:0001701	Pericarditis	Inflammation of the sac-like covering around the heart (pericardium).
HP:0001702	Abnormal tricuspid valve morphology	Any structural anomaly of the tricuspid valve.
HP:0001704	Tricuspid valve prolapse	One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.
HP:0001705	Right ventricular outlet tract obstruction	An obstruction to the forward flow of blood in the outflow tract of the right ventricle.
HP:0001706	Endocardial fibroelastosis	Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
HP:0001707	Abnormal right ventricle morphology	An abnormality of the right ventricle of the heart.
HP:0001708	Right ventricular failure	Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.
HP:0001709	Third degree atrioventricular block	Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
HP:0001710	Conotruncal defect	A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.
HP:0001711	Abnormal left ventricle morphology	Any structural abnormality of the left ventricle of the heart.
HP:0001712	Left ventricular hypertrophy	Enlargement or increased size of the heart left ventricle.
HP:0001713	Abnormal cardiac ventricle morphology	An abnormality of a cardiac ventricle.
HP:0001714	Ventricular hypertrophy	Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
HP:0001716	Wolff-Parkinson-White syndrome	A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
HP:0001717	Coronary artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.
HP:0001718	Mitral stenosis	An abnormal narrowing of the orifice of the mitral valve.
HP:0001719	Double outlet right ventricle	Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
HP:0001722	High-output congestive heart failure	A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.
HP:0001723	Restrictive cardiomyopathy	Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
HP:0001727	Thromboembolic stroke	A cerebrovascular accident (stroke) that occurs because of thromboembolism.
HP:0001730	Progressive hearing impairment	A progressive form of hearing impairment.
HP:0001732	Abnormality of the pancreas	An abnormality of the pancreas.
HP:0001733	Pancreatitis	The presence of inflammation in the pancreas.
HP:0001734	Annular pancreas	A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
HP:0001735	Acute pancreatitis	A acute form of pancreatitis.
HP:0001737	Pancreatic cysts	A cyst of the pancreas that possess a lining of mucous epithelium.
HP:0001738	Exocrine pancreatic insufficiency	Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
HP:0001739	Abnormal nasopharynx morphology	A structural anomaly of the nasopharynx.
HP:0001741	Phimosis	The male foreskin cannot be fully retracted from the head of the penis.
HP:0001742	Nasal congestion	Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
HP:0001743	Abnormality of the spleen	An abnormality of the spleen.
HP:0001744	Splenomegaly	Abnormal increased size of the spleen.
HP:0001746	Asplenia	Absence (aplasia) of the spleen.
HP:0001747	Accessory spleen	An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
HP:0001748	Polysplenia	Polysplenia is a congenital disease manifested by multiple small accessory spleens.
HP:0001750	Single ventricle	The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.
HP:0001751	Abnormal vestibular function	An abnormality of the functioning of the vestibular apparatus.
HP:0001756	Vestibular hypofunction	A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance
HP:0001757	High-frequency sensorineural hearing impairment	A form of sensorineural hearing impairment that affects primarily the higher frequencies.
HP:0001760	Abnormal foot morphology	An abnormality of the skeleton of foot.
HP:0001761	Pes cavus	An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
HP:0001762	Talipes equinovarus	Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
HP:0001763	Pes planus	A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
HP:0001765	Hammertoe	Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
HP:0001769	Broad foot	A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
HP:0001770	Toe syndactyly	Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
HP:0001771	Achilles tendon contracture	A contracture of the Achilles tendon.
HP:0001772	Talipes equinovalgus	A deformity of foot and ankle in which the foot is bent down and outwards.
HP:0001773	Short foot	A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
HP:0001775	Tarsal osteovalgus	
HP:0001776	Bilateral talipes equinovarus	Bilateral clubfoot deformity.
HP:0001780	Abnormal toe morphology	An anomaly of a toe.
HP:0001782	Bulbous tips of toes	An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.
HP:0001783	Broad metatarsal	Increased side-to-side width of a metatarsal bone.
HP:0001785	Ankle swelling	
HP:0001786	Narrow foot	A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
HP:0001787	Abnormal delivery	An abnormality of the birth process.
HP:0001788	Premature rupture of membranes	Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.
HP:0001789	Hydrops fetalis	The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
HP:0001790	Nonimmune hydrops fetalis	A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .
HP:0001791	Fetal ascites	Accumulation of fluid in the peritoneal cavity during the fetal period.
HP:0001792	Small nail	A nail that is diminished in length and width, i.e., underdeveloped nail.
HP:0001795	Hyperconvex nail	When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
HP:0001798	Anonychia	Aplasia of the nail.
HP:0001799	Short nail	Decreased length of nail.
HP:0001800	Hypoplastic toenails	Underdevelopment of the toenail.
HP:0001802	Absent toenail	Congenital absence of the toenail.
HP:0001803	Nail pits	Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
HP:0001804	Hypoplastic fingernail	Underdevelopment of a fingernail.
HP:0001805	Onychogryposis	Nail that appears thick when viewed on end.
HP:0001806	Onycholysis	Detachment of the nail from the nail bed.
HP:0001807	Ridged nail	Longitudinal, linear prominences in the nail plate.
HP:0001808	Fragile nails	Nails that easily break.
HP:0001809	Split nail	A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.
HP:0001810	Dystrophic toenail	Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
HP:0001812	Hyperconvex fingernails	When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
HP:0001814	Deep-set nails	Deeply placed nails.
HP:0001816	Thin nail	Nail that appears thin when viewed on end.
HP:0001817	Absent fingernail	Absence of a fingernail.
HP:0001818	Paronychia	The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).
HP:0001820	Leukonychia	White discoloration of the nails.
HP:0001821	Broad nail	Increased width of nail.
HP:0001822	Hallux valgus	Lateral deviation of the great toe (i.e., in the direction of the little toe).
HP:0001824	Weight loss	Reduction of total body weight.
HP:0001827	Genital tract atresia	Congenital occlusion of a tube in the genital tract.
HP:0001829	Foot polydactyly	A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0001830	Postaxial foot polydactyly	Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
HP:0001831	Short toe	A toe that appears disproportionately short compared to the foot.
HP:0001832	Abnormal metatarsal morphology	Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).
HP:0001833	Long foot	Increased back to front length of the foot.
HP:0001836	Camptodactyly of toe	Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
HP:0001837	Broad toe	Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
HP:0001838	Rocker bottom foot	The presence of both a prominent heel and a convex contour of the sole.
HP:0001839	Split foot	A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
HP:0001840	Metatarsus adductus	The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
HP:0001841	Preaxial foot polydactyly	Duplication of all or part of the first ray.
HP:0001842	Foot acroosteolysis	
HP:0001844	Abnormal hallux morphology	This term applies for all abnormalities of the big toe, also called hallux.
HP:0001845	Overlapping toe	Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.
HP:0001847	Long hallux	Increased length of the big toe.
HP:0001848	Calcaneovalgus deformity	This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).
HP:0001849	Foot oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of toes.
HP:0001850	Abnormality of the tarsal bones	An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.
HP:0001852	Sandal gap	A widely spaced gap between the first toe (the great toe) and the second toe.
HP:0001853	Bifid distal phalanx of toe	
HP:0001854	Podagra	Gout affecting the Metatarsophalangeal joint of big toe.
HP:0001857	Short distal phalanx of toe	Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.
HP:0001859	Distal foot symphalangism	
HP:0001863	Toe clinodactyly	Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).
HP:0001864	Clinodactyly of the 5th toe	Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
HP:0001868	Autoamputation of foot	Spontaneous detachment of a foot from the body.
HP:0001869	Deep plantar creases	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
HP:0001870	Acroosteolysis of distal phalanges (feet)	
HP:0001871	Abnormality of blood and blood-forming tissues	An abnormality of the hematopoietic system.
HP:0001872	Abnormality of thrombocytes	An abnormality of platelets.
HP:0001873	Thrombocytopenia	A reduction in the number of circulating thrombocytes.
HP:0001874	Abnormality of neutrophils	A neutrophil abnormality.
HP:0001875	Neutropenia	An abnormally low number of neutrophils in the peripheral blood.
HP:0001876	Pancytopenia	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
HP:0001877	Abnormal erythrocyte morphology	Any structural abnormality of erythrocytes (red-blood cells).
HP:0001878	Hemolytic anemia	A type of anemia caused by premature destruction of red blood cells (hemolysis).
HP:0001879	Abnormal eosinophil morphology	An abnormal count or structure of eosinophils.
HP:0001880	Eosinophilia	Increased count of eosinophils in the blood.
HP:0001881	Abnormal leukocyte morphology	An abnormality of leukocytes.
HP:0001882	Leukopenia	An abnormal decreased number of leukocytes in the blood.
HP:0001883	Talipes	A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
HP:0001884	Talipes calcaneovalgus	Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
HP:0001885	Short 2nd toe	Underdevelopment (hypoplasia) of the second toe.
HP:0001886	Foot osteomyelitis	An infection of bone of the foot.
HP:0001888	Lymphopenia	A reduced number of lymphocytes in the blood.
HP:0001889	Megaloblastic anemia	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
HP:0001890	Autoimmune hemolytic anemia	An autoimmune form of hemolytic anemia.
HP:0001891	Iron deficiency anemia	
HP:0001892	Abnormal bleeding	An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
HP:0001894	Thrombocytosis	Increased numbers of platelets in the peripheral blood.
HP:0001895	Normochromic anemia	
HP:0001896	Reticulocytopenia	A reduced number of reticulocytes in the peripheral blood.
HP:0001897	Normocytic anemia	A kind of anemia in which the volume of the red blood cells is normal.
HP:0001898	Increased red blood cell mass	The presence of an increased mass of red blood cells in the circulation.
HP:0001899	Increased hematocrit	An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
HP:0001900	Increased hemoglobin	
HP:0001901	Polycythemia	Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
HP:0001902	Giant platelets	Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
HP:0001903	Anemia	A reduction in erythrocytes volume or hemoglobin concentration.
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
HP:0001905	Congenital thrombocytopenia	Thrombocytopenia with congenital onset.
HP:0001907	Thromboembolism	The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
HP:0001908	Hypoplastic anemia	Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
HP:0001909	Leukemia	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
HP:0001911	Abnormal granulocyte morphology	Any structural abnormality or abnormal count of granulocytes.
HP:0001912	Abnormal basophil morphology	Any structural abnormality or abnormal count of basophils.
HP:0001913	Granulocytopenia	An abnormally reduced number of granulocytes in the blood.
HP:0001915	Aplastic anemia	Aplastic anemia is defined as pancytopenia with a hypocellular marrow.
HP:0001917	Renal amyloidosis	A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).
HP:0001919	Acute kidney injury	Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
HP:0001920	Renal artery stenosis	The presence of stenosis of the renal artery.
HP:0001922	Vacuolated lymphocytes	The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
HP:0001923	Reticulocytosis	An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
HP:0001924	Sideroblastic anemia	Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
HP:0001927	Acanthocytosis	Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
HP:0001928	Abnormality of coagulation	An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
HP:0001929	Reduced factor XI activity	Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.
HP:0001930	Nonspherocytic hemolytic anemia	
HP:0001931	Hypochromic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
HP:0001933	Subcutaneous hemorrhage	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
HP:0001934	Persistent bleeding after trauma	
HP:0001935	Microcytic anemia	A kind of anemia in which the volume of the red blood cells is reduced.
HP:0001937	Microangiopathic hemolytic anemia	
HP:0001939	Abnormality of metabolism/homeostasis	
HP:0001941	Acidosis	Abnormal acid accumulation or depletion of base.
HP:0001942	Metabolic acidosis	Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
HP:0001943	Hypoglycemia	A decreased concentration of glucose in the blood.
HP:0001944	Dehydration	
HP:0001945	Fever	Body temperature elevated above the normal range.
HP:0001946	Ketosis	Presence of elevated levels of ketone bodies in the body.
HP:0001947	Renal tubular acidosis	Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
HP:0001948	Alkalosis	Depletion of acid or accumulation base in the body fluids.
HP:0001949	Hypokalemic alkalosis	
HP:0001950	Respiratory alkalosis	Alkalosis due to excess loss of carbon dioxide from the body.
HP:0001951	Episodic ammonia intoxication	
HP:0001952	Glucose intolerance	Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
HP:0001953	Diabetic ketoacidosis	A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
HP:0001954	Recurrent fever	Periodic (episodic or recurrent) bouts of fever.
HP:0001955	Unexplained fevers	Episodes of fever for which no infectious cause can be identified.
HP:0001956	Truncal obesity	Obesity located preferentially in the trunk of the body as opposed to the extremities.
HP:0001958	Nonketotic hypoglycemia	
HP:0001959	Polydipsia	Excessive thirst manifested by excessive fluid intake.
HP:0001960	Hypokalemic metabolic alkalosis	
HP:0001961	Hypoplastic heart	
HP:0001962	Palpitations	A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
HP:0001963	Abnormal speech discrimination	A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
HP:0001964	Aplasia/Hypoplasia of metatarsal bones	Absence or underdevelopment of the metatarsal bones.
HP:0001965	Abnormal scalp morphology	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.
HP:0001966	Abnormal glomerular mesangium morphology	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.
HP:0001967	Diffuse mesangial sclerosis	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
HP:0001969	Abnormal tubulointerstitial morphology	An abnormality that involves the tubules and interstitial tissue of the kidney.
HP:0001970	Tubulointerstitial nephritis	A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
HP:0001971	Hypersplenism	A malfunctioning of the spleen in which it prematurely destroys red blood cells.
HP:0001972	Macrocytic anemia	A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
HP:0001973	Autoimmune thrombocytopenia	The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
HP:0001974	Leukocytosis	An abnormal increase in the number of leukocytes in the blood.
HP:0001975	Decreased platelet glycoprotein IIb-IIIa	Decreased cell membrane concentration of glycoprotein IIb-IIIa.
HP:0001976	Reduced antithrombin III activity	An abnormality of coagulation related to a decreased concentration of antithrombin-III.
HP:0001977	Abnormal thrombosis	Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
HP:0001978	Extramedullary hematopoiesis	The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
HP:0001980	Megaloblastic bone marrow	Abnormal increased number of megaloblasts in the bone marrow.
HP:0001981	Schistocytosis	The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.
HP:0001982	Sea-blue histiocytosis	An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.
HP:0001983	Reduced lymphocyte surface expression of CD43	A reduction in the expression of CD43 on the cell surface of lymphocytes.
HP:0001984	Intolerance to protein	
HP:0001985	Hypoketotic hypoglycemia	A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.
HP:0001986	Hypertonic dehydration	
HP:0001987	Hyperammonemia	An increased concentration of ammonia in the blood.
HP:0001988	Recurrent hypoglycemia	Recurrent episodes of decreased concentration of glucose in the blood.
HP:0001989	Fetal akinesia sequence	Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
HP:0001991	Aplasia/Hypoplasia of toe	Absence or hypoplasia of toes.
HP:0001992	Organic aciduria	Excretion of non-amino organic acids in urine.
HP:0001993	Ketoacidosis	Acidosis resulting from accumulation of ketone bodies.
HP:0001994	Renal Fanconi syndrome	An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
HP:0001995	Hyperchloremic acidosis	Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.
HP:0001996	Chronic metabolic acidosis	Longstanding metabolic acidosis.
HP:0001997	Gout	Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
HP:0001998	Neonatal hypoglycemia	
HP:0001999	Abnormal facial shape	An abnormal morphology (form) of the face or its components.
HP:0002000	Short columella	Reduced distance from the anterior border of the naris to the subnasale.
HP:0002002	Deep philtrum	Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
HP:0002003	Large forehead	
HP:0002006	Facial cleft	A congenital malformation with a cleft (gap or opening) in the face.
HP:0002007	Frontal bossing	Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
HP:0002009	Potter facies	A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
HP:0002010	Narrow maxilla	
HP:0002011	Morphological central nervous system abnormality	A structural abnormality of the central nervous system.
HP:0002012	Abnormality of the abdominal organs	An abnormality of the viscera of the abdomen.
HP:0002013	Vomiting	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
HP:0002014	Diarrhea	Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
HP:0002015	Dysphagia	Difficulty in swallowing.
HP:0002017	Nausea and vomiting	Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
HP:0002018	Nausea	A sensation of unease in the stomach together with an urge to vomit.
HP:0002019	Constipation	Infrequent or difficult evacuation of feces.
HP:0002020	Gastroesophageal reflux	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0002021	Pyloric stenosis	Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.
HP:0002023	Anal atresia	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0002024	Malabsorption	Impaired ability to absorb one or more nutrients from the intestine.
HP:0002025	Anal stenosis	Abnormal narrowing of the anal opening.
HP:0002027	Abdominal pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
HP:0002028	Chronic diarrhea	The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
HP:0002031	Abnormal esophagus morphology	A structural abnormality of the esophagus.
HP:0002032	Esophageal atresia	A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
HP:0002033	Poor suck	An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
HP:0002034	Abnormal rectum morphology	An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.
HP:0002035	Rectal prolapse	Protrusion of the rectal mucous membrane through the anus.
HP:0002036	Hiatus hernia	The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
HP:0002037	Inflammation of the large intestine	Inflammation, or an inflammatory state in the large intestine.
HP:0002038	Protein avoidance	
HP:0002039	Anorexia	A lack or loss of appetite for food (as a medical condition).
HP:0002040	Esophageal varix	Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
HP:0002041	Intractable diarrhea	
HP:0002043	Esophageal stricture	A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.
HP:0002044	Zollinger-Ellison syndrome	A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.
HP:0002045	Hypothermia	Reduced body temperature due to failed thermoregulation.
HP:0002046	Heat intolerance	The inability to maintain a comfortable body temperature in warm or hot weather.
HP:0002047	Malignant hyperthermia	Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.
HP:0002048	Renal cortical atrophy	Atrophy of the cortex of the kidney.
HP:0002049	Proximal renal tubular acidosis	A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
HP:0002050	Macroorchidism, postpubertal	
HP:0002054	Heavy supraorbital ridges	
HP:0002055	Curved linear dimple below the lower lip	
HP:0002056	Abnormality of the glabella	An abnormality of the glabella.
HP:0002057	Prominent glabella	Forward protrusion of the glabella.
HP:0002058	Myopathic facies	A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
HP:0002059	Cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
HP:0002060	Abnormal cerebral morphology	Any structural abnormality of the telencephalon, which is also known as the cerebrum.
HP:0002061	Lower limb spasticity	Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
HP:0002062	Morphological abnormality of the pyramidal tract	Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
HP:0002063	Rigidity	Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
HP:0002064	Spastic gait	Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
HP:0002066	Gait ataxia	A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
HP:0002067	Bradykinesia	Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
HP:0002068	Neuromuscular dysphagia	
HP:0002069	Bilateral tonic-clonic seizure	A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
HP:0002070	Limb ataxia	A kind of ataxia that affects movements of the extremities.
HP:0002071	Abnormality of extrapyramidal motor function	A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
HP:0002072	Chorea	Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
HP:0002073	Progressive cerebellar ataxia	
HP:0002074	Increased neuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
HP:0002075	Dysdiadochokinesis	A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
HP:0002076	Migraine	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
HP:0002077	Migraine with aura	A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
HP:0002078	Truncal ataxia	Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
HP:0002079	Hypoplasia of the corpus callosum	Underdevelopment of the corpus callosum.
HP:0002080	Intention tremor	A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
HP:0002083	Migraine without aura	Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.
HP:0002084	Encephalocele	A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
HP:0002085	Occipital encephalocele	A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
HP:0002086	Abnormality of the respiratory system	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
HP:0002087	Abnormality of the upper respiratory tract	An abnormality of the upper respiratory tract.
HP:0002088	Abnormal lung morphology	Any structural anomaly of the lung.
HP:0002089	Pulmonary hypoplasia	
HP:0002090	Pneumonia	Inflammation of any part of the lung parenchyma.
HP:0002091	Restrictive ventilatory defect	A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
HP:0002092	Pulmonary arterial hypertension	Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
HP:0002093	Respiratory insufficiency	
HP:0002094	Dyspnea	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
HP:0002097	Emphysema	
HP:0002098	Respiratory distress	Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
HP:0002099	Asthma	Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
HP:0002100	Recurrent aspiration pneumonia	Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
HP:0002101	Abnormal lung lobation	A developmental defect in the formation of pulmonary lobes.
HP:0002102	Pleuritis	Inflammation of the pleura.
HP:0002103	Abnormal pleura morphology	An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
HP:0002104	Apnea	Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
HP:0002105	Hemoptysis	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
HP:0002107	Pneumothorax	Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
HP:0002108	Spontaneous pneumothorax	Pneumothorax occurring without traumatic injury to the chest or lung.
HP:0002110	Bronchiectasis	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
HP:0002113	Pulmonary infiltrates	
HP:0002118	Abnormal cerebral ventricle morphology	Any structural abnormality of the cerebral ventricles.
HP:0002119	Ventriculomegaly	An increase in size of the ventricular system of the brain.
HP:0002120	Cerebral cortical atrophy	Atrophy of the cortex of the cerebrum.
HP:0002121	Generalized non-motor (absence) seizure	A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
HP:0002123	Generalized myoclonic seizure	A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0002126	Polymicrogyria	Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
HP:0002127	Abnormal upper motor neuron morphology	Any structural anomaly that affects the upper motor neuron.
HP:0002131	Episodic ataxia	Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
HP:0002132	Porencephalic cyst	A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
HP:0002133	Status epilepticus	Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
HP:0002134	Abnormal basal ganglia morphology	Abnormality of the basal ganglia.
HP:0002135	Basal ganglia calcification	The presence of calcium deposition affecting one or more structures of the basal ganglia.
HP:0002136	Broad-based gait	An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
HP:0002138	Subarachnoid hemorrhage	Hemorrhage occurring between the arachnoid mater and the pia mater.
HP:0002139	Arrhinencephaly	
HP:0002140	Ischemic stroke	Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.
HP:0002141	Gait imbalance	
HP:0002143	Abnormal spinal cord morphology	A structural abnormality of the spinal cord (myelon).
HP:0002144	Tethered cord	During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
HP:0002145	Frontotemporal dementia	A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
HP:0002148	Hypophosphatemia	An abnormally decreased phosphate concentration in the blood.
HP:0002149	Hyperuricemia	An abnormally high level of uric acid in the blood.
HP:0002150	Hypercalciuria	
HP:0002151	Increased serum lactate	Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
HP:0002152	Hyperproteinemia	An increased concentration of proteins in the blood.
HP:0002153	Hyperkalemia	An abnormally increased potassium concentration in the blood.
HP:0002154	Hyperglycinemia	An elevated concentration of glycine in the blood.
HP:0002155	Hypertriglyceridemia	An abnormal increase in the level of triglycerides in the blood.
HP:0002156	Homocystinuria	An increased concentration of homocystine in the urine.
HP:0002157	Azotemia	An increased concentration of nitrogen compounds in the blood.
HP:0002159	Heparan sulfate excretion in urine	An increased concentration of heparan sulfates in the urine.
HP:0002160	Hyperhomocystinemia	An increased concentration of homocystine in the blood.
HP:0002161	Hyperlysinemia	An increased concentration of lysine in the blood.
HP:0002162	Low posterior hairline	Hair on the neck extends more inferiorly than usual.
HP:0002164	Nail dysplasia	The presence of developmental dysplasia of the nail.
HP:0002165	Pterygium of nails	Inward advance of skin over the nail plate.
HP:0002166	Impaired vibration sensation in the lower limbs	A decrease in the ability to perceive vibration in the legs.
HP:0002167	Abnormality of speech or vocalization	Abnormalities in the sound of a person's speech or vocalization which are not necessarily associated with a known physical cause.
HP:0002168	Scanning speech	An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.
HP:0002169	Clonus	A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
HP:0002170	Intracranial hemorrhage	Hemorrhage occurring within the skull.
HP:0002171	Gliosis	Gliosis is the focal proliferation of glial cells in the central nervous system.
HP:0002172	Postural instability	A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
HP:0002173	Hypoglycemic seizures	
HP:0002174	Postural tremor	A type of tremors that is triggered by holding a limb in a fixed position.
HP:0002176	Spinal cord compression	External mechanical compression of the spinal cord.
HP:0002179	Opisthotonus	
HP:0002180	Neurodegeneration	Progressive loss of neural cells and tissue.
HP:0002181	Cerebral edema	Abnormal accumulation of fluid in the brain.
HP:0002183	Phonophobia	An abnormally heightened sensitivity to loud sounds.
HP:0002185	Neurofibrillary tangles	Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
HP:0002186	Apraxia	A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
HP:0002187	Intellectual disability, profound	Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
HP:0002188	Delayed CNS myelination	Delayed myelination in the central nervous system.
HP:0002190	Choroid plexus cyst	A cyst occurring within the choroid plexus within a cerebral ventricle.
HP:0002191	Progressive spasticity	Spasticity that increases in degree with time.
HP:0002193	Pseudobulbar behavioral symptoms	Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
HP:0002194	Delayed gross motor development	A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
HP:0002195	Dysgenesis of the cerebellar vermis	Defective development of the vermis of cerebellum.
HP:0002196	Myelopathy	
HP:0002197	Generalized-onset seizure	A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.
HP:0002198	Dilated fourth ventricle	An abnormal dilatation of the fourth cerebral ventricle.
HP:0002199	Hypocalcemic seizures	
HP:0002200	Pseudobulbar signs	Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
HP:0002202	Pleural effusion	The presence of an excessive amount of fluid in the pleural cavity.
HP:0002203	Respiratory paralysis	Inability to move the muscles of respiration.
HP:0002204	Pulmonary embolism	An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
HP:0002205	Recurrent respiratory infections	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0002206	Pulmonary fibrosis	Replacement of normal lung tissues by fibroblasts and collagen.
HP:0002207	Diffuse reticular or finely nodular infiltrations	
HP:0002208	Coarse hair	Hair shafts are rough in texture.
HP:0002209	Sparse scalp hair	Decreased number of hairs per unit area of skin of the scalp.
HP:0002211	White forelock	A triangular depigmented region of white hairs located in the anterior midline of the scalp.
HP:0002212	Curly hair	
HP:0002213	Fine hair	Hair that is fine or thin to the touch.
HP:0002215	Sparse axillary hair	Reduced number or density of axillary hair.
HP:0002216	Premature graying of hair	Development of gray hair at a younger than normal age.
HP:0002217	Slow-growing hair	Hair whose growth is slower than normal.
HP:0002218	Silver-gray hair	Hypopigmented hair that appears silver-gray.
HP:0002219	Facial hypertrichosis	Excessive, increased hair growth located in the facial region.
HP:0002220	Melanin pigment aggregation in hair shafts	
HP:0002221	Absent axillary hair	Absence of axillary hair.
HP:0002223	Absent eyebrow	Absence of the eyebrow.
HP:0002224	Woolly hair	The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
HP:0002225	Sparse pubic hair	Reduced number or density of pubic hair.
HP:0002226	White eyebrow	White color (lack of pigmentation) of the eyebrow.
HP:0002227	White eyelashes	White color (lack of pigmentation) of the eyelashes.
HP:0002230	Generalized hirsutism	Abnormally increased hair growth over much of the entire body.
HP:0002231	Sparse body hair	Sparseness of the body hair.
HP:0002232	Patchy alopecia	Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
HP:0002234	Early balding	Loss of scalp hair at an earlier than normal age.
HP:0002235	Pili canaliculi	A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.
HP:0002236	Frontal upsweep of hair	Upward and/or sideward growth of anterior hair.
HP:0002239	Gastrointestinal hemorrhage	Hemorrhage affecting the gastrointestinal tract.
HP:0002240	Hepatomegaly	Abnormally increased size of the liver.
HP:0002242	Abnormal intestine morphology	An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
HP:0002243	Protein-losing enteropathy	Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
HP:0002244	Abnormal small intestine morphology	A structural abnormality of the small intestine.
HP:0002245	Meckel diverticulum	Meckel's diverticulum is a congenital diverticulum located in the distal ileum.
HP:0002246	Abnormal duodenum morphology	An abnormality of the duodenum, i.e., the first section of the small intestine.
HP:0002247	Duodenal atresia	A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
HP:0002248	Hematemesis	The vomiting of blood.
HP:0002249	Melena	The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
HP:0002250	Abnormal large intestine morphology	Any abnormality of the large intestine.
HP:0002251	Aganglionic megacolon	An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
HP:0002253	Colonic diverticula	The presence of multiple diverticula of the colon.
HP:0002254	Intermittent diarrhea	Repeated episodes of diarrhea separated by periods without diarrhea.
HP:0002256	Small bowel diverticula	
HP:0002257	Chronic rhinitis	Chronic inflammation of the nasal mucosa.
HP:0002263	Exaggerated cupid's bow	More pronounced paramedian peaks and median notch of the Cupid's bow.
HP:0002265	Large fleshy ears	
HP:0002266	Focal clonic seizure	A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
HP:0002267	Exaggerated startle response	An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.
HP:0002268	Paroxysmal dystonia	A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
HP:0002269	Abnormality of neuronal migration	An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
HP:0002270	Abnormality of the autonomic nervous system	An abnormality of the autonomic nervous system.
HP:0002273	Tetraparesis	Weakness of all four limbs.
HP:0002275	Poor motor coordination	
HP:0002277	Horner syndrome	An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
HP:0002280	Enlarged cisterna magna	Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
HP:0002282	Gray matter heterotopia	Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
HP:0002283	Global brain atrophy	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
HP:0002286	Fair hair	A lesser degree of hair pigmentation than would otherwise be expected.
HP:0002287	Progressive alopecia	Progressive loss of hair.
HP:0002289	Alopecia universalis	Loss of all hair on the entire body.
HP:0002290	Poliosis	Circumscribed depigmentation of the hair of the head or the eyelashes.
HP:0002292	Frontal balding	Absence of hair in the anterior midline and/or parietal areas.
HP:0002293	Alopecia of scalp	
HP:0002296	Progressive hypotrichosis	Progressively reduced or lacking hair growth.
HP:0002297	Red hair	
HP:0002298	Absent hair	
HP:0002299	Brittle hair	Fragile, easily breakable hair, i.e., with reduced tensile strength.
HP:0002300	Mutism	
HP:0002301	Hemiplegia	Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
HP:0002304	Akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
HP:0002305	Athetosis	A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
HP:0002307	Drooling	Habitual flow of saliva out of the mouth.
HP:0002308	Chiari malformation	Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
HP:0002310	Orofacial dyskinesia	
HP:0002311	Incoordination	
HP:0002312	Clumsiness	Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
HP:0002313	Spastic paraparesis	
HP:0002314	Degeneration of the lateral corticospinal tracts	Deterioration of the tissues of the lateral corticospinal tracts.
HP:0002315	Headache	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
HP:0002317	Unsteady gait	
HP:0002318	Cervical myelopathy	
HP:0002321	Vertigo	An abnormal sensation of spinning while the body is actually stationary.
HP:0002322	Resting tremor	A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.
HP:0002323	Anencephaly	Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.
HP:0002324	Hydranencephaly	A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.
HP:0002326	Transient ischemic attack	
HP:0002329	Drowsiness	Excessive daytime sleepiness.
HP:0002330	Paroxysmal drowsiness	Attacks of disabling daytime drowsiness and low alertness.
HP:0002331	Recurrent paroxysmal headache	Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.
HP:0002332	Lack of peer relationships	The state of not having relationships with peers. This may be caused by behavioral or physical barriers.
HP:0002333	Motor deterioration	Loss of previously present motor (i.e., movement) abilities.
HP:0002334	Abnormal cerebellar vermis morphology	An anomaly of the vermis of cerebellum.
HP:0002335	Agenesis of cerebellar vermis	Congenital absence of the vermis of cerebellum.
HP:0002339	Abnormal caudate nucleus morphology	Any structural abnormality of the caudate nucleus.
HP:0002340	Caudate atrophy	
HP:0002341	Cervical cord compression	Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.
HP:0002342	Intellectual disability, moderate	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
HP:0002343	Normal pressure hydrocephalus	A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.
HP:0002344	Progressive neurologic deterioration	
HP:0002345	Action tremor	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
HP:0002346	Head tremor	An unintentional, oscillating to-and-fro muscle movement affecting head movement.
HP:0002349	Focal aware seizure	A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
HP:0002350	Cerebellar cyst	
HP:0002352	Leukoencephalopathy	This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
HP:0002353	EEG abnormality	Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
HP:0002354	Memory impairment	An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
HP:0002355	Difficulty walking	Reduced ability to walk (ambulate).
HP:0002356	Writer's cramp	A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
HP:0002359	Frequent falls	
HP:0002360	Sleep disturbance	An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
HP:0002361	Psychomotor deterioration	Loss of previously present mental and motor abilities.
HP:0002362	Shuffling gait	A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.
HP:0002363	Abnormal brainstem morphology	An anomaly of the brainstem.
HP:0002365	Hypoplasia of the brainstem	Underdevelopment of the brainstem.
HP:0002366	Abnormal lower motor neuron morphology	Any structural anomaly of the lower motor neuron.
HP:0002367	Visual hallucinations	Visual perceptions that are not elicited by a corresponding stimulus from the outside world.
HP:0002370	Poor coordination	
HP:0002371	Loss of speech	
HP:0002372	Normal interictal EEG	Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)	A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
HP:0002374	Diminished movement	
HP:0002375	Hypokinesia	Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
HP:0002376	Developmental regression	Loss of developmental skills, as manifested by loss of developmental milestones.
HP:0002378	Hand tremor	An unintentional, oscillating to-and-fro muscle movement affecting the hand.
HP:0002380	Fasciculations	Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
HP:0002381	Aphasia	An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0002383	Infectious encephalitis	A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.
HP:0002384	Focal impaired awareness seizure	Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
HP:0002385	Paraparesis	Weakness or partial paralysis in the lower limbs.
HP:0002389	Cavum septum pellucidum	If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
HP:0002390	Spinal arteriovenous malformation	
HP:0002392	EEG with polyspike wave complexes	The presence of complexes of repetitive spikes and waves in EEG.
HP:0002395	Lower limb hyperreflexia	
HP:0002396	Cogwheel rigidity	A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).
HP:0002398	Degeneration of anterior horn cells	
HP:0002401	Stroke-like episode	No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.
HP:0002403	Positive Romberg sign	The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
HP:0002404	Thickened superior cerebellar peduncle	Increased width of the superior cerebellar peduncle.
HP:0002406	Limb dysmetria	A type of dysmetria involving the limbs.
HP:0002408	Cerebral arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.
HP:0002410	Aqueductal stenosis	Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
HP:0002411	Myokymia	Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
HP:0002414	Spina bifida	Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
HP:0002415	Leukodystrophy	Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
HP:0002416	Subependymal cysts	Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.
HP:0002418	Abnormal midbrain morphology	An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.
HP:0002419	Molar tooth sign on MRI	An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
HP:0002421	Poor head control	Difficulty to maintain correct position of the head while standing or sitting.
HP:0002423	Long-tract signs	Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.
HP:0002425	Anarthria	A defect in the motor ability that enables speech.
HP:0002427	Expressive aphasia	Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.
HP:0002435	Meningocele	Protrusion of the meninges through a defect of the skull or vertebral column.
HP:0002436	Occipital meningocele	A herniation of meninges through a congenital bone defect in the skull in the occipital region.
HP:0002438	Cerebellar malformation	
HP:0002439	Frontolimbic dementia	
HP:0002442	Dyscalculia	A specific learning disability involving mathematics and arithmetic.
HP:0002444	Hypothalamic hamartoma	The presence of a hamartoma of the hypothalamus.
HP:0002445	Tetraplegia	Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
HP:0002446	Astrocytosis	Proliferation of astrocytes in the area of a lesion of the central nervous system.
HP:0002448	Progressive encephalopathy	
HP:0002450	Abnormal motor neuron morphology	Any structural anomaly that affects the motor neuron.
HP:0002451	Limb dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
HP:0002453	Abnormal globus pallidus morphology	An abnormality of the globus pallidus.
HP:0002454	Eye of the tiger anomaly of globus pallidus	The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.
HP:0002457	Abnormal head movements	
HP:0002460	Distal muscle weakness	Reduced strength of the musculature of the distal extremities.
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	
HP:0002463	Language impairment	Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
HP:0002464	Spastic dysarthria	A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
HP:0002465	Poor speech	
HP:0002470	Nonprogressive cerebellar ataxia	
HP:0002472	Small cerebral cortex	Reduced size of the cerebral cortex.
HP:0002474	Expressive language delay	A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0002475	Myelomeningocele	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
HP:0002476	Primitive reflex	The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.
HP:0002478	Progressive spastic quadriplegia	
HP:0002480	Hepatic encephalopathy	Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
HP:0002483	Bulbar signs	
HP:0002486	Myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
HP:0002487	Hyperkinetic movements	Motor hyperactivity with excessive movement of muscles of the body as a whole.
HP:0002488	Acute leukemia	A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).
HP:0002490	Increased CSF lactate	Increased concentration of lactate in the cerebrospinal fluid.
HP:0002491	Spasticity of facial muscles	Spasticity of one or more muscles innervated by the facial nerve.
HP:0002492	Morphological abnormality of the corticospinal tract	Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.
HP:0002493	Upper motor neuron dysfunction	A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
HP:0002494	Abnormal rapid eye movement sleep	Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.
HP:0002495	Impaired vibratory sensation	A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
HP:0002497	Spastic ataxia	
HP:0002500	Abnormal cerebral white matter morphology	An abnormality of the cerebral white matter.
HP:0002501	Spasticity of pharyngeal muscles	
HP:0002503	Spinocerebellar tract degeneration	
HP:0002504	Calcification of the small brain vessels	Deposition of calcium salts within small blood vessels of the brain.
HP:0002505	Loss of ambulation	Inability to walk in a person who previous had the ability to walk.
HP:0002506	Diffuse cerebral atrophy	Diffuse unlocalised atrophy affecting the cerebrum.
HP:0002507	Semilobar holoprosencephaly	A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
HP:0002508	Brainstem dysplasia	A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.
HP:0002509	Limb hypertonia	
HP:0002510	Spastic tetraplegia	Spastic paralysis affecting all four limbs.
HP:0002511	Alzheimer disease	A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
HP:0002512	Brain stem compression	
HP:0002514	Cerebral calcification	The presence of calcium deposition within brain structures.
HP:0002515	Waddling gait	Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
HP:0002516	Increased intracranial pressure	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
HP:0002518	Abnormal periventricular white matter morphology	A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.
HP:0002519	Hypnagogic hallucinations	Fleeting perceptual experiences that occur during the transition from wakefulness to sleep.
HP:0002521	Hypsarrhythmia	Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
HP:0002522	Areflexia of lower limbs	Inability to elicit tendon reflexes in the lower limbs.
HP:0002524	Cataplexy	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
HP:0002526	Deficit in nonword repetition	Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.
HP:0002527	Falls	
HP:0002528	Granulovacuolar degeneration	Electron-dense granules within double membrane-bound cytoplasmic vacuoles.
HP:0002529	Neuronal loss in central nervous system	
HP:0002530	Axial dystonia	A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
HP:0002533	Abnormal posturing	Involuntary flexion or extension of the arms and legs.
HP:0002536	Abnormal cortical gyration	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
HP:0002538	Abnormal cerebral cortex morphology	Any structural abnormality of the cerebral cortex.
HP:0002539	Cortical dysplasia	The presence of developmental dysplasia of the cerebral cortex.
HP:0002540	Inability to walk	Incapability to ambulate.
HP:0002542	Olivopontocerebellar atrophy	Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
HP:0002544	Retrocollis	A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
HP:0002545	Patchy demyelination of subcortical white matter	Patchy loss of myelin from nerve fibers in the central nervous system.
HP:0002546	Incomprehensible speech	
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
HP:0002549	Deficit in phonologic short-term memory	Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory
HP:0002550	Absent facial hair	Absence of facial hair.
HP:0002552	Trichodysplasia	Developmental dysplasia of the hair.
HP:0002553	Highly arched eyebrow	Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
HP:0002555	Absent pubic hair	Absence of pubic hair.
HP:0002557	Hypoplastic nipples	Underdevelopment of the nipple.
HP:0002558	Supernumerary nipple	Presence of more than two nipples.
HP:0002561	Absent nipple	Congenital failure to develop, and absence of, the nipple.
HP:0002562	Low-set nipples	Placement of the nipples at a lower than normal location.
HP:0002563	Constrictive pericarditis	Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.
HP:0002566	Intestinal malrotation	An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
HP:0002570	Steatorrhea	Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
HP:0002571	Achalasia	A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
HP:0002572	Episodic vomiting	Paroxysmal, recurrent episodes of vomiting.
HP:0002573	Hematochezia	The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
HP:0002574	Episodic abdominal pain	An intermittent form of abdominal pain.
HP:0002575	Tracheoesophageal fistula	An abnormal connection (fistula) between the esophagus and the trachea.
HP:0002576	Intussusception	An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
HP:0002577	Abnormal stomach morphology	An abnormality of the stomach.
HP:0002578	Gastroparesis	Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
HP:0002579	Gastrointestinal dysmotility	Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
HP:0002580	Volvulus	Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
HP:0002582	Atrophic gastritis	Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.
HP:0002583	Colitis	Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
HP:0002584	Intestinal bleeding	Bleeding from the intestines.
HP:0002585	Abnormality of the peritoneum	An abnormality of the peritoneum.
HP:0002586	Peritonitis	Inflammation of the peritoneum.
HP:0002587	Projectile vomiting	Vomiting that ejects the gastric contents with great force.
HP:0002588	Duodenal ulcer	An erosion of the mucous membrane in a portion of the duodenum.
HP:0002589	Gastrointestinal atresia	
HP:0002590	Paralytic ileus	
HP:0002591	Polyphagia	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
HP:0002592	Gastric ulcer	An ulcer, that is, an erosion of an area of the gastric mucous membrane.
HP:0002593	Intestinal lymphangiectasia	Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
HP:0002594	Pancreatic hypoplasia	Hypoplasia of the pancreas.
HP:0002595	Ileus	Acute obstruction of the intestines preventing passage of the contents of the intestines.
HP:0002597	Abnormality of the vasculature	An abnormality of the vasculature.
HP:0002599	Head titubation	A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
HP:0002600	Hyporeflexia of lower limbs	Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
HP:0002601	Paresis of extensor muscles of the big toe	
HP:0002604	Gastrointestinal telangiectasia	Telangiectasia affecting the gastrointestinal tract.
HP:0002605	Hepatic necrosis	The presence of cell death (necrosis) affecting the liver.
HP:0002607	Bowel incontinence	Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0002608	Celiac disease	Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.
HP:0002611	Cholestatic liver disease	
HP:0002612	Congenital hepatic fibrosis	The presence of fibrosis of that part of the liver with congenital onset.
HP:0002613	Biliary cirrhosis	Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
HP:0002614	Hepatic periportal necrosis	A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.
HP:0002615	Hypotension	Low Blood Pressure, vascular hypotension.
HP:0002616	Aortic root aneurysm	An abnormal localized widening (dilatation) of the aortic root.
HP:0002617	Vascular dilatation	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
HP:0002619	Varicose veins	Enlarged and tortuous veins.
HP:0002621	Atherosclerosis	A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.
HP:0002623	Overriding aorta	An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
HP:0002624	Abnormal venous morphology	An anomaly of vein.
HP:0002625	Deep venous thrombosis	Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
HP:0002626	Venous varicosities of celiac and mesenteric vessels	Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.
HP:0002627	Right aortic arch with mirror image branching	The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
HP:0002629	Gastrointestinal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.
HP:0002630	Fat malabsorption	Abnormality of the absorption of fat from the gastrointestinal tract.
HP:0002632	Low-to-normal blood pressure	
HP:0002633	Vasculitis	Inflammation of blood vessel.
HP:0002634	Arteriosclerosis	Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.
HP:0002635	Type IV atherosclerotic lesion	In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.
HP:0002636	Dilatation of an abdominal artery	Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.
HP:0002637	Cerebral ischemia	Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.
HP:0002638	Superficial thrombophlebitis	Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
HP:0002639	Budd-Chiari syndrome	Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.
HP:0002640	Hypertension associated with pheochromocytoma	A type of hypertension associated with pheochromocytoma.
HP:0002641	Peripheral thrombosis	
HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	
HP:0002643	Neonatal respiratory distress	Respiratory difficulty as newborn.
HP:0002644	Abnormal pelvic girdle bone morphology	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
HP:0002645	Wormian bones	The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
HP:0002647	Aortic dissection	Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
HP:0002650	Scoliosis	The presence of an abnormal lateral curvature of the spine.
HP:0002651	Spondyloepimetaphyseal dysplasia	
HP:0002652	Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.
HP:0002653	Bone pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
HP:0002654	Multiple epiphyseal dysplasia	
HP:0002655	Spondyloepiphyseal dysplasia	A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
HP:0002656	Epiphyseal dysplasia	
HP:0002657	Spondylometaphyseal dysplasia	
HP:0002659	Increased susceptibility to fractures	An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
HP:0002661	Painless fractures due to injury	An increased tendency to fractures following trauma, with fractures occurring without pain.
HP:0002663	Delayed epiphyseal ossification	
HP:0002664	Neoplasm	An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
HP:0002665	Lymphoma	A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
HP:0002666	Pheochromocytoma	Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
HP:0002667	Nephroblastoma	The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
HP:0002668	Paraganglioma	A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
HP:0002669	Osteosarcoma	A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
HP:0002671	Basal cell carcinoma	The presence of a basal cell carcinoma of the skin.
HP:0002672	Gastrointestinal carcinoma	
HP:0002673	Coxa valga	Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
HP:0002676	Cloverleaf skull	Trilobar skull configuration when viewed from the front or behind.
HP:0002677	Small foramen magnum	An abnormal narrowing of the foramen magnum.
HP:0002678	Skull asymmetry	
HP:0002679	Abnormal sella turcica morphology	Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.
HP:0002680	J-shaped sella turcica	A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.
HP:0002681	Deformed sella turcica	
HP:0002682	Broad skull	Increased width of the skull.
HP:0002683	Abnormal calvaria morphology	Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
HP:0002684	Thickened calvaria	The presence of an abnormally thick calvaria.
HP:0002686	Prenatal maternal abnormality	
HP:0002687	Abnormality of frontal sinus	An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.
HP:0002688	Absent frontal sinuses	Aplasia of frontal sinus.
HP:0002689	Absent paranasal sinuses	Aplasia of the paranasal sinuses.
HP:0002690	Large sella turcica	An abnormal enlargement of the sella turcica.
HP:0002691	Platybasia	A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
HP:0002692	Hypoplastic facial bones	
HP:0002693	Abnormality of the skull base	An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.
HP:0002694	Sclerosis of skull base	Increased bone density of the skull base without significant changes in bony contour.
HP:0002696	Abnormal parietal bone morphology	Any abnormality of the parietal bone of the skull.
HP:0002697	Parietal foramina	The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
HP:0002699	Abnormal foramen magnum morphology	Any abnormality of the foramen magnum.
HP:0002700	Large foramen magnum	An abnormal increase in the size of the foramen magnum.
HP:0002703	Abnormality of skull ossification	An abnormality of the process of ossification of the skull.
HP:0002705	High, narrow palate	The presence of a high and narrow palate.
HP:0002707	Palate telangiectasia	The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.
HP:0002708	Prominent median palatal raphe	Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.
HP:0002710	Commissural lip pit	A depression located at an oral commissure.
HP:0002711	Exaggerated median tongue furrow	Increased depth of the median tongue furrow.
HP:0002714	Downturned corners of mouth	A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
HP:0002715	Abnormality of the immune system	An abnormality of the immune system.
HP:0002716	Lymphadenopathy	Enlargment (swelling) of a lymph node.
HP:0002717	Adrenal overactivity	
HP:0002718	Recurrent bacterial infections	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
HP:0002719	Recurrent infections	Increased susceptibility to infections.
HP:0002720	Decreased circulating IgA level	Decreased levels of immunoglobulin A (IgA).
HP:0002721	Immunodeficiency	Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
HP:0002722	Recurrent abscess formation	An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
HP:0002723	Absence of bactericidal oxidative respiratory burst in phagocytes	An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.
HP:0002724	Recurrent Aspergillus infections	An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
HP:0002725	Systemic lupus erythematosus	A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
HP:0002726	Recurrent Staphylococcus aureus infections	Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
HP:0002728	Chronic mucocutaneous candidiasis	Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
HP:0002729	Follicular hyperplasia	Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
HP:0002730	Chronic noninfectious lymphadenopathy	A chronic form of lymphadenopathy that is not related to infection.
HP:0002731	Decreased lymphocyte apoptosis	A reduction in the rate of apoptosis in lymphocytes.
HP:0002732	Lymph node hypoplasia	Underdevelopment of the lymph nodes.
HP:0002733	Abnormal lymph node morphology	A structural lymph node abnormality.
HP:0002737	Thick skull base	
HP:0002738	Hypoplastic frontal sinuses	Underdevelopment of frontal sinus.
HP:0002740	Recurrent E. coli infections	Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
HP:0002741	Recurrent Serratia marcescens infections	Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
HP:0002742	Recurrent Klebsiella infections	Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
HP:0002743	Recurrent enteroviral infections	Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
HP:0002744	Bilateral cleft lip and palate	Cleft lip and cleft palate affecting both sides of the face.
HP:0002745	Oral leukoplakia	A thickened white patch on the oral mucosa that cannot be rubbed off.
HP:0002747	Respiratory insufficiency due to muscle weakness	
HP:0002748	Rickets	Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
HP:0002749	Osteomalacia	Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
HP:0002750	Delayed skeletal maturation	A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
HP:0002751	Kyphoscoliosis	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
HP:0002752	Sparse bone trabeculae	
HP:0002753	Thin bony cortex	Abnormal thinning of the cortical region of bones.
HP:0002754	Osteomyelitis	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
HP:0002756	Pathologic fracture	A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
HP:0002757	Recurrent fractures	The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
HP:0002758	Osteoarthritis	Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.
HP:0002761	Generalized joint laxity	Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.
HP:0002762	Multiple exostoses	Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
HP:0002763	Abnormal cartilage morphology	Any morphological abnormality of cartilage.
HP:0002764	Stippled chondral calcification	Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).
HP:0002766	Relatively short spine	
HP:0002777	Tracheal stenosis	
HP:0002778	Abnormal tracheal morphology	A structural anomaly of the trachea.
HP:0002779	Tracheomalacia	
HP:0002780	Bronchomalacia	Weakness or softness of the cartilage in the walls of the bronchial tubes.
HP:0002781	Upper airway obstruction	Increased resistance to the passage of air in the upper airway.
HP:0002783	Recurrent lower respiratory tract infections	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
HP:0002786	Tracheobronchomalacia	Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.
HP:0002787	Tracheal calcification	Calcification (abnormal deposits of calcium) in the tracheal tissues.
HP:0002788	Recurrent upper respiratory tract infections	An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
HP:0002789	Tachypnea	Very rapid breathing.
HP:0002790	Neonatal breathing dysregulation	
HP:0002791	Hypoventilation	A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
HP:0002792	Reduced vital capacity	An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.
HP:0002793	Abnormal pattern of respiration	An anomaly of the rhythm or depth of breathing.
HP:0002795	Abnormal respiratory system physiology	
HP:0002797	Osteolysis	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
HP:0002803	Congenital contracture	One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
HP:0002804	Arthrogryposis multiplex congenita	Multiple congenital contractures in different body areas.
HP:0002805	Accelerated bone age after puberty	
HP:0002808	Kyphosis	Exaggerated anterior convexity of the thoracic vertebral column.
HP:0002810	Dumbbell-shaped metaphyses	
HP:0002812	Coxa vara	Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
HP:0002813	Abnormality of limb bone morphology	Any abnormality of bones of the arms or legs.
HP:0002814	Abnormality of the lower limb	An abnormality of the leg.
HP:0002815	Abnormality of the knee	An abnormality of the knee joint or surrounding structures.
HP:0002816	Genu recurvatum	An abnormally increased extension of the knee joint, so that the knee can bend backwards.
HP:0002817	Abnormality of the upper limb	An abnormality of the arm.
HP:0002818	Abnormal morphology of the radius	An abnormality of the radius.
HP:0002821	Neuropathic arthropathy	
HP:0002822	Hyperplasia of the femoral trochanters	
HP:0002823	Abnormality of femur morphology	Any anomaly of the structure of the femur.
HP:0002825	Caudal appendage	The presence of a tail-like skin appendage located adjacent to the sacrum.
HP:0002826	Halberd-shaped pelvis	An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).
HP:0002827	Hip dislocation	Displacement of the femur from its normal location in the hip joint.
HP:0002828	Multiple joint contractures	
HP:0002829	Arthralgia	Joint pain.
HP:0002831	Long coccyx	
HP:0002832	Calcific stippling	An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).
HP:0002833	Cystic angiomatosis of bone	Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.
HP:0002834	Flared femoral metaphysis	
HP:0002835	Aspiration	Inspiration of a foreign object into the airway.
HP:0002836	Bladder exstrophy	Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.
HP:0002837	Recurrent bronchitis	An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
HP:0002839	Urinary bladder sphincter dysfunction	Abnormal function of a sphincter of the urinary bladder.
HP:0002840	Lymphadenitis	Inflammation of a lymph node.
HP:0002841	Recurrent fungal infections	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
HP:0002842	Recurrent Burkholderia cepacia infections	Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
HP:0002843	Abnormal T cell morphology	An abnormality of T cells.
HP:0002846	Abnormal B cell morphology	A structural abnormality of B cells.
HP:0002847	Impaired memory B cell generation	Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.
HP:0002848	Decreased specific anti-polysaccharide antibody level	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
HP:0002849	Absence of lymph node germinal center	Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.
HP:0002850	Decreased circulating total IgM	An abnormally decreased level of immunoglobulin M (IgM) in blood.
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
HP:0002853	Increased proportion of HLA DR+ T cells	An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.
HP:0002857	Genu valgum	The legs angle inward, such that the knees are close together and the ankles far apart.
HP:0002858	Meningioma	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
HP:0002859	Rhabdomyosarcoma	
HP:0002860	Squamous cell carcinoma	The presence of squamous cell carcinoma of the skin.
HP:0002861	Melanoma	The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
HP:0002862	Bladder carcinoma	The presence of a carcinoma of the urinary bladder.
HP:0002863	Myelodysplasia	Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
HP:0002864	Paraganglioma of head and neck	
HP:0002865	Medullary thyroid carcinoma	The presence of a medullary carcinoma of the thyroid gland.
HP:0002866	Hypoplastic iliac wing	Underdevelopment of the ilium ala.
HP:0002867	Abnormal ilium morphology	An abnormality of the ilium, the largest and uppermost bone of the pelvis.
HP:0002868	Narrow iliac wing	Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
HP:0002869	Flared iliac wing	Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
HP:0002870	Obstructive sleep apnea	A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
HP:0002871	Central apnea	Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.
HP:0002872	Apneic episodes precipitated by illness, fatigue, stress	Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.
HP:0002875	Exertional dyspnea	Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.
HP:0002876	Episodic tachypnea	Episodes of very rapid breathing.
HP:0002877	Nocturnal hypoventilation	An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.
HP:0002878	Respiratory failure	A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
HP:0002879	Anisospondyly	Abnormally increased variability of the size of the vertebral bodies.
HP:0002882	Sudden episodic apnea	Recurrent bouts of sudden, severe apnea that may be life-threatening.
HP:0002883	Hyperventilation	Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
HP:0002884	Hepatoblastoma	A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
HP:0002885	Medulloblastoma	A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.
HP:0002886	Vagal paraganglioma	A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.
HP:0002888	Ependymoma	The presence of an ependymoma of the central nervous system.
HP:0002890	Thyroid carcinoma	The presence of a carcinoma of the thyroid gland.
HP:0002891	Uterine leiomyosarcoma	The presence of a leiomyosarcoma of the uterus.
HP:0002893	Pituitary adenoma	A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).
HP:0002894	Neoplasm of the pancreas	A tumor (abnormal growth of tissue) of the pancreas.
HP:0002895	Papillary thyroid carcinoma	The presence of a papillary adenocarcinoma of the thyroid gland.
HP:0002896	Neoplasm of the liver	A tumor (abnormal growth of tissue) of the liver.
HP:0002897	Parathyroid adenoma	A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
HP:0002898	Embryonal neoplasm	
HP:0002900	Hypokalemia	An abnormally decreased potassium concentration in the blood.
HP:0002901	Hypocalcemia	An abnormally decreased calcium concentration in the blood.
HP:0002902	Hyponatremia	An abnormally decreased sodium concentration in the blood.
HP:0002904	Hyperbilirubinemia	An increased amount of bilirubin in the blood.
HP:0002905	Hyperphosphatemia	An abnormally increased phosphate concentration in the blood.
HP:0002907	Microscopic hematuria	Microscopic hematuria detected by dipstick or microscopic examination of the urine.
HP:0002908	Conjugated hyperbilirubinemia	
HP:0002909	Generalized aminoaciduria	An increased concentration of all types of amino acid in the urine.
HP:0002910	Elevated hepatic transaminase	Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
HP:0002912	Methylmalonic acidemia	Increased concentration of methylmalonic acid in the blood.
HP:0002913	Myoglobinuria	Presence of myoglobin in the urine.
HP:0002914	Hyperchloriduria	An increased concentration of chloride in the urine.
HP:0002916	Abnormality of chromosome segregation	An abnormality of chromosome segregation.
HP:0002917	Hypomagnesemia	An abnormally decreased magnesium concentration in the blood.
HP:0002918	Hypermagnesemia	An abnormally increased magnesium concentration in the blood.
HP:0002919	Ketonuria	High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
HP:0002920	Decreased circulating ACTH level	An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
HP:0002921	Abnormal cerebrospinal fluid morphology	An abnormality of the cerebrospinal fluid (CSF).
HP:0002922	Increased CSF protein concentration	Increased concentration of protein in the cerebrospinal fluid.
HP:0002923	Rheumatoid factor positive	The presence in the serum of an autoantibody directed against the Fc portion of IgG.
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration	Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
HP:0002926	Abnormality of thyroid physiology	An abnormal functionality of the thyroid gland.
HP:0002927	Histidinuria	An increased concentration of histidine in the urine.
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	
HP:0002929	Leydig cell insensitivity to gonadotropin	
HP:0002930	Impaired sensitivity to thyroid hormone	Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.
HP:0002932	Aldehyde oxidase deficiency	A reduction in aldehyde oxidase level.
HP:0002933	Ventral hernia	Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.
HP:0002936	Distal sensory impairment	An abnormal reduction in sensation in the distal portions of the extremities.
HP:0002937	Hemivertebrae	Absence of one half of the vertebral body.
HP:0002938	Lumbar hyperlordosis	An abnormal accentuation of the inward curvature of the spine in the lumbar region.
HP:0002942	Thoracic kyphosis	Over curvature of the thoracic region, leading to a round back or if sever to a hump.
HP:0002943	Thoracic scoliosis	
HP:0002944	Thoracolumbar scoliosis	
HP:0002945	Intervertebral space narrowing	Decreased height of the intervertebral disk.
HP:0002946	Supernumerary vertebrae	
HP:0002947	Cervical kyphosis	Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
HP:0002948	Vertebral fusion	A developmental defect leading to the union of two adjacent vertebrae.
HP:0002949	Fused cervical vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
HP:0002951	Partial absence of cerebellar vermis	Congenital absence of a part of the vermis of cerebellum.
HP:0002953	Vertebral compression fracture	
HP:0002955	Granulomatosis	A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.
HP:0002958	Immune dysregulation	Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.
HP:0002959	Impaired Ig class switch recombination	An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.
HP:0002960	Autoimmunity	The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0002961	Dysgammaglobulinemia	Selective deficiency of one or more, but not all, classes of immunoglobulins.
HP:0002963	Abnormal delayed hypersensitivity skin test	Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
HP:0002965	Cutaneous anergy	Inability to react to a delayed hypersensitivity skin test.
HP:0002967	Cubitus valgus	Abnormal positioning in which the elbows are turned out.
HP:0002970	Genu varum	A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
HP:0002971	Absent microvilli on the surface of peripheral blood lymphocytes	Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.
HP:0002972	Reduced delayed hypersensitivity	Decreased ability to react to a delayed hypersensitivity skin test.
HP:0002973	Abnormal forearm morphology	An abnormality of the lower arm.
HP:0002974	Radioulnar synostosis	An abnormal osseous union (fusion) between the radius and the ulna.
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	Absence or underdevelopment of tissue in the central nervous system.
HP:0002979	Bowing of the legs	A bending or abnormal curvature affecting a long bone of the leg.
HP:0002980	Femoral bowing	Bowing (abnormal curvature) of the femur.
HP:0002981	Abnormality of the calf	An abnormality of the calf, i.e. of the posterior part of the lower leg.
HP:0002982	Tibial bowing	A bending or abnormal curvature of the tibia.
HP:0002983	Micromelia	The presence of abnormally small extremities.
HP:0002984	Hypoplasia of the radius	Underdevelopment of the radius.
HP:0002986	Radial bowing	A bending or abnormal curvature of the radius.
HP:0002987	Elbow flexion contracture	An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.
HP:0002990	Fibular aplasia	Absence of the fibula.
HP:0002991	Abnormality of fibula morphology	An anomaly of the calf bone (fibula), one of the two bones of the calf.
HP:0002992	Abnormality of tibia morphology	Abnormality of the tibia (shinbone).
HP:0002996	Limited elbow movement	
HP:0002999	Patellar dislocation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
HP:0003001	Glomus jugular tumor	
HP:0003002	Breast carcinoma	The presence of a carcinoma of the breast.
HP:0003003	Colon cancer	
HP:0003005	Ganglioneuroma	A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.
HP:0003006	Neuroblastoma	Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
HP:0003009	Enhanced neurotoxicity of vincristine	
HP:0003010	Prolonged bleeding time	Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
HP:0003011	Abnormality of the musculature	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
HP:0003013	Bulging epiphyses	A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).
HP:0003015	Flared metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
HP:0003016	Metaphyseal widening	Abnormal widening of the metaphyseal regions of long bones.
HP:0003019	Abnormality of the wrist	Abnormality of the wrist, the structure connecting the hand and the forearm.
HP:0003020	Enlargement of the wrists	
HP:0003021	Metaphyseal cupping	Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
HP:0003022	Hypoplasia of the ulna	Underdevelopment of the ulna.
HP:0003023	Bowing of limbs due to multiple fractures	Curvature of the shafts of the long bones due to multiple fractures.
HP:0003025	Metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphyses.
HP:0003026	Short long bone	One or more abnormally short long bone.
HP:0003027	Mesomelia	Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
HP:0003028	Abnormality of the ankle	An anomaly of the joint that connects the foot with the leg.
HP:0003029	Enlargement of the ankles	
HP:0003031	Ulnar bowing	Bending of the diaphysis (shaft) of the ulna.
HP:0003034	Diaphyseal sclerosis	An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0003037	Enlarged joints	Increase in size of one or more joints.
HP:0003038	Fibular hypoplasia	Underdevelopment of the fibula.
HP:0003040	Arthropathy	
HP:0003041	Humeroradial synostosis	An abnormal osseous union (fusion) between the radius and the humerus.
HP:0003042	Elbow dislocation	Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
HP:0003043	Abnormal shoulder morphology	An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
HP:0003044	Shoulder flexion contracture	Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
HP:0003045	Abnormal patella morphology	Abnormality of the patella (knee cap).
HP:0003048	Radial head subluxation	Partial dislocation of the head of the radius.
HP:0003049	Ulnar deviation of the wrist	
HP:0003051	Enlarged metaphyses	Abnormal increase in size of one or more metaphyses.
HP:0003053	Epiphyseal deformities of tubular bones	
HP:0003057	Tetraamelia	Amelia of all four limbs.
HP:0003059	Abnormality of the radioulnar joints	
HP:0003063	Abnormality of the humerus	An abnormality of the humerus (i.e., upper arm bone).
HP:0003065	Patellar hypoplasia	Underdevelopment of the patella.
HP:0003066	Limited knee extension	Reduced ability to extend (straighten) the knee joint.
HP:0003067	Madelung deformity	An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.
HP:0003068	Madelung-like forearm deformities	
HP:0003070	Elbow ankylosis	
HP:0003071	Flattened epiphysis	Abnormal flatness (decreased height) of epiphyses.
HP:0003072	Hypercalcemia	An abnormally increased calcium concentration in the blood.
HP:0003073	Hypoalbuminemia	Reduction in the concentration of albumin in the blood.
HP:0003074	Hyperglycemia	An increased concentration of glucose in the blood.
HP:0003075	Hypoproteinemia	A decreased concentration of protein in the blood.
HP:0003076	Glycosuria	An increased concentration of glucose in the urine.
HP:0003077	Hyperlipidemia	An elevated lipid concentration in the blood.
HP:0003079	Defective DNA repair after ultraviolet radiation damage	
HP:0003080	Hydroxyprolinuria	An increased concentration of 4-hydroxy-L-proline in the urine.
HP:0003081	Increased urinary potassium	An increased concentration of potassium(1+) in the urine.
HP:0003083	Dislocated radial head	A dislocation of the head of the radius from its socket in the elbow joint.
HP:0003084	Fractures of the long bones	An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).
HP:0003085	Long fibula	Disproportionately long fibulae.
HP:0003086	Acromesomelia	Small hands and feet.
HP:0003088	Premature osteoarthritis	
HP:0003089	Hamstring contractures	
HP:0003090	Hypoplasia of the capital femoral epiphysis	Underdevelopment of the proximal epiphysis of the femur.
HP:0003091	Trophic limb changes	Trophic changes occurring in a limb.
HP:0003093	Limited hip extension	Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.
HP:0003095	Septic arthritis	
HP:0003097	Short femur	An abnormal shortening of the femur.
HP:0003099	Fibular overgrowth	Relatively increased growth of the fibula compared to that of the tibia.
HP:0003100	Slender long bone	Reduced diameter of a long bone.
HP:0003102	Increased carrying angle	An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
HP:0003103	Abnormal cortical bone morphology	An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
HP:0003105	Protuberances at ends of long bones	The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.
HP:0003106	Subperiosteal bone resorption	Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.
HP:0003107	Abnormal circulating cholesterol concentration	Any deviation from the normal concentration of cholesterol in the blood circulation.
HP:0003108	Hyperglycinuria	An increased concentration of glycine in the urine.
HP:0003109	Hyperphosphaturia	An increased excretion of phosphates in the urine.
HP:0003110	Abnormality of urine homeostasis	An abnormality of the composition of urine or the levels of its components.
HP:0003111	Abnormal blood ion concentration	Abnormality of the homeostasis (concentration) of a monoatomic ion.
HP:0003112	Abnormal circulating amino acid concentration	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.
HP:0003113	Hypochloremia	An abnormally decreased chloride concentration in the blood.
HP:0003115	Abnormal EKG	Abnormal rhythm of the heart.
HP:0003116	Abnormal echocardiogram	
HP:0003117	Abnormal circulating hormone concentration	An abnormal concentration of a hormone in the blood.
HP:0003118	Increased circulating cortisol level	Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
HP:0003119	Abnormal circulating lipid concentration	Any deviation from the normal concentration of a lipid in the blood circulation.
HP:0003121	Limb joint contracture	A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
HP:0003124	Hypercholesterolemia	An increased concentration of cholesterol in the blood.
HP:0003125	Reduced factor VIII activity	Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
HP:0003126	Low-molecular-weight proteinuria	Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
HP:0003127	Hypocalciuria	An abnormally decreased calcium concentration in the urine.
HP:0003128	Lactic acidosis	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
HP:0003130	Abnormal peripheral myelination	An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
HP:0003131	Cystinuria	An increased concentration of cystine in the urine.
HP:0003133	Abnormality of the spinocerebellar tracts	An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.
HP:0003134	Abnormality of peripheral nerve conduction	An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
HP:0003137	Prolinuria	An increased concentration of proline in the urine.
HP:0003138	Increased blood urea nitrogen	An increased amount of nitrogen in the form of urea in the blood.
HP:0003139	Panhypogammaglobulinemia	A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
HP:0003140	T-wave inversion in the right precordial leads	
HP:0003141	Increased LDL cholesterol concentration	An elevated concentration of low-density lipoprotein cholesterol in the blood.
HP:0003142	Excessive purine production	
HP:0003144	Increased serum serotonin	A increased concentration of serotonin in the blood.
HP:0003145	Decreased adenosylcobalamin	Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.
HP:0003146	Hypocholesterolemia	An decreased concentration of cholesterol in the blood.
HP:0003148	Elevated serum acid phosphatase	
HP:0003149	Hyperuricosuria	An abnormally high level of uric acid in the urine.
HP:0003150	Glutaric aciduria	An increased concentration of glutaric acid in the urine.
HP:0003153	Cystathioninuria	An elevated urinary concentration of cystathionine.
HP:0003154	Increased circulating ACTH level	An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
HP:0003155	Elevated circulating alkaline phosphatase concentration	Abnormally increased serum levels of alkaline phosphatase activity.
HP:0003158	Hyposthenuria	An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
HP:0003159	Hyperoxaluria	Increased excretion of oxalates in the urine.
HP:0003160	Abnormal isoelectric focusing of serum transferrin	Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.
HP:0003161	4-Hydroxyphenylpyruvic aciduria	Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.
HP:0003162	Fasting hypoglycemia	
HP:0003163	Elevated urinary delta-aminolevulinic acid	An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	
HP:0003165	Elevated circulating parathyroid hormone level	An abnormal increased concentration of parathyroid hormone.
HP:0003166	Increased urinary taurine	Increased concentration of taurine in the urine.
HP:0003167	Carnosinuria	An increased concentration of carnosine in the urine.
HP:0003168	Dibasicaminoaciduria	An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).
HP:0003170	Abnormal acetabulum morphology	An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.
HP:0003172	Abnormality of the pubic bone	An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.
HP:0003173	Hypoplastic pubic bone	Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
HP:0003174	Abnormality of the ischium	An anomaly of the ischium, which forms the lower and back part of the hip bone.
HP:0003175	Hypoplastic ischia	Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
HP:0003177	Squared iliac bones	A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
HP:0003179	Protrusio acetabuli	Intrapelvic bulging of the medial acetabular wall.
HP:0003180	Flat acetabular roof	Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
HP:0003182	Shallow acetabular fossae	
HP:0003183	Wide pubic symphysis	Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.
HP:0003184	Decreased hip abduction	Reduced ability to move the femur outward to the side.
HP:0003185	Short greater sciatic notch	The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.
HP:0003186	Inverted nipples	The presence of nipples that instead of pointing outward are retracted inwards.
HP:0003187	Breast hypoplasia	Underdevelopment of the breast.
HP:0003189	Long nose	Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.
HP:0003191	Cleft ala nasi	The presence of a notch in the margin of the ala nasi.
HP:0003193	Allergic rhinitis	It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
HP:0003194	Short nasal bridge	Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.
HP:0003196	Short nose	Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
HP:0003198	Myopathy	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
HP:0003199	Decreased muscle mass	
HP:0003200	Ragged-red muscle fibers	An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
HP:0003201	Rhabdomyolysis	Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
HP:0003202	Skeletal muscle atrophy	The presence of skeletal muscular atrophy (which is also known as amyotrophy).
HP:0003203	Impaired oxidative burst	In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
HP:0003204	Intracellular accumulation of autofluorescent lipopigment storage material	The intracellular accumulation of autofluorescent storage material.
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
HP:0003206	Decreased activity of NADPH oxidase	
HP:0003207	Arterial calcification	Pathological deposition of calcium salts in one or more arteries.
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.
HP:0003209	Decreased pyruvate carboxylase activity	A decreased rate of pyruvate carboxylase activity.
HP:0003210	Decreased methylmalonyl-CoA mutase activity	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.
HP:0003212	Increased circulating IgE level	An abnormally increased overall level of immunoglobulin E in blood.
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	
HP:0003214	Prolonged G2 phase of cell cycle	
HP:0003215	Dicarboxylic aciduria	An increased concentration of dicarboxylic acid in the urine.
HP:0003216	Generalized amyloid deposition	A diffuse form of amyloidosis.
HP:0003217	Hyperglutaminemia	An increased concentration of glutamine in the blood.
HP:0003218	Oroticaciduria	An increased concentration of orotic acid in the urine.
HP:0003219	Ethylmalonic aciduria	An increased concentration of ethylmalonic acid in the urine.
HP:0003220	Abnormality of chromosome stability	A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.
HP:0003221	Chromosomal breakage induced by crosslinking agents	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
HP:0003223	Decreased methylcobalamin	Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.
HP:0003224	Increased cellular sensitivity to UV light	
HP:0003225	Reduced coagulation factor V activity	Decreased activity of coagulation factor V.
HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.
HP:0003228	Hypernatremia	An abnormally increased sodium concentration in the blood.
HP:0003231	Hypertyrosinemia	An increased concentration of tyrosine in the blood.
HP:0003232	Mitochondrial malic enzyme reduced	
HP:0003233	Decreased HDL cholesterol concentration	An decreased concentration of high-density lipoprotein cholesterol in the blood.
HP:0003234	Decreased plasma carnitine	A decreased concentration of carnitine in the blood.
HP:0003235	Hypermethioninemia	An increased concentration of methionine in the blood.
HP:0003236	Elevated circulating creatine kinase concentration	An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0003237	Increased circulating IgG level	An abnormally increased level of immunoglobulin G in blood.
HP:0003238	Hyperpepsinogenemia I	
HP:0003239	Phosphoethanolaminuria	An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.
HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
HP:0003241	External genital hypoplasia	Underdevelopment of part or all of the external reproductive organs.
HP:0003244	Penile hypospadias	Location of the urethral opening on the inferior aspect of the penis.
HP:0003246	Prominent scrotal raphe	Increased size of the ridge of tissue that extends along the midline of the scrotum.
HP:0003247	Overgrowth of external genitalia	
HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	
HP:0003249	Genital ulcers	
HP:0003250	Aplasia of the vagina	Aplasia of the vagina.
HP:0003251	Male infertility	
HP:0003252	Anteriorly displaced genitalia	
HP:0003254	Abnormality of DNA repair	An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.
HP:0003256	Abnormality of the coagulation cascade	An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
HP:0003258	Glyoxalase deficiency	
HP:0003259	Elevated circulating creatinine concentration	An increased amount of creatinine in the blood.
HP:0003260	Hydroxyprolinemia	An increased concentration of hydroxyproline in the blood.
HP:0003261	Increased circulating IgA level	An abnormally increased level of immunoglobulin A in blood.
HP:0003262	Smooth muscle antibody positivity	The presence in serum of antibodies against smooth muscle.
HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	
HP:0003265	Neonatal hyperbilirubinemia	A type of hyperbilirubinemia with neonatal onset.
HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase level	An abnormal decrease in orotidine 5'-phosphate decarboxylase level.
HP:0003268	Argininuria	A increased concentration of arginine in the urine.
HP:0003269	Sudanophilic leukodystrophy	
HP:0003270	Abdominal distention	Distention of the abdomen.
HP:0003271	Visceromegaly	Abnormal increased size of the viscera of the abdomen.
HP:0003272	Abnormal hip bone morphology	An abnormality of the hip bone.
HP:0003273	Hip contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0003274	Hypoplastic acetabulae	Underdeveloped acetabulae.
HP:0003275	Narrow pelvis bone	Reduced side to side width of the pelvis.
HP:0003276	Pelvic bone exostoses	A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.
HP:0003277	Constricted iliac wing	
HP:0003278	Square pelvis bone	An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
HP:0003279	Coxa magna	Widening of the femoral head and neck.
HP:0003281	Increased circulating ferritin concentration	Increased concentration of ferritin in the blood circulation.
HP:0003282	Low alkaline phosphatase	Abnormally reduced serum levels of alkaline phosphatase.
HP:0003286	Cystathioninemia	An increased concentration of cystathionine in the blood.
HP:0003287	Abnormality of mitochondrial metabolism	A functional anomaly of mitochondria.
HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	
HP:0003292	Decreased serum leptin	A decreased concentration of leptin in the blood.
HP:0003296	Hyperthreoninuria	An increased concentration of threonine in the urine.
HP:0003297	Hyperlysinuria	An increased concentration of lysine in the urine.
HP:0003298	Spina bifida occulta	The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
HP:0003300	Ovoid vertebral bodies	When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
HP:0003301	Irregular vertebral endplates	An irregular surface of the vertebral end plates, which are normally relatively smooth.
HP:0003302	Spondylolisthesis	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
HP:0003304	Spondylolysis	Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.
HP:0003305	Block vertebrae	Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
HP:0003306	Spinal rigidity	Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
HP:0003307	Hyperlordosis	Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
HP:0003308	Cervical subluxation	A partial dislocation of one or more intervertebral joints in the cervical vertebral column.
HP:0003309	Ovoid thoracolumbar vertebrae	
HP:0003310	Abnormality of the odontoid process	Abnormality of the dens of the axis, which is also known as the odontoid process.
HP:0003311	Hypoplasia of the odontoid process	Developmental hypoplasia of the dens of the axis.
HP:0003312	Abnormal form of the vertebral bodies	Abnormal morphology of vertebral body.
HP:0003316	Butterfly vertebrae	A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.
HP:0003318	Cervical spine hypermobility	
HP:0003319	Abnormality of the cervical spine	Any abnormality of the cervical vertebral column.
HP:0003320	C1-C2 subluxation	A partial dislocation of the atlantoaxial joints.
HP:0003321	Biconcave flattened vertebrae	
HP:0003323	Progressive muscle weakness	
HP:0003324	Generalized muscle weakness	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
HP:0003325	Limb-girdle muscle weakness	Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
HP:0003326	Myalgia	Pain in muscle.
HP:0003327	Axial muscle weakness	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
HP:0003328	Abnormal hairshaft morphology	An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.
HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	
HP:0003330	Abnormal bone structure	Any anomaly in the composite material or the layered arrangement of the bony skeleton.
HP:0003332	Absent primary metaphyseal spongiosa	
HP:0003333	Increased serum beta-hexosaminidase	
HP:0003334	Elevated circulating catecholamine level	An abnormal increase in catecholamine concentration in the blood.
HP:0003336	Abnormal enchondral ossification	An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
HP:0003337	Reduced prothrombin consumption	The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.
HP:0003338	Focal necrosis of right ventricular muscle cells	
HP:0003339	Pyrimidine-responsive megaloblastic anemia	A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.
HP:0003341	Lamina lucida cleavage	The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
HP:0003343	Reduced glutathione synthetase level	Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.
HP:0003344	3-Methylglutaric aciduria	An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.
HP:0003345	Elevated urinary norepinephrine	An increased concentration of noradrenaline in the urine.
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
HP:0003348	Hyperalaninemia	An increased concentration of alanine in the blood.
HP:0003349	Low cholesterol esterification rate	A reduction in the rate of cholesterol esterification.
HP:0003351	Decreased circulating renin level	An decreased level of renin in the blood.
HP:0003352	Endopolyploidy on chromosome studies of bone marrow	An increase in the number of chromosome sets per cell in bone marrow cells.
HP:0003353	Propionyl-CoA carboxylase deficiency	An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.
HP:0003354	Hyperthreoninemia	An increased concentration of threonine in the blood.
HP:0003355	Aminoaciduria	An increased concentration of an amino acid in the urine.
HP:0003357	Thymic hormone decreased	A reduction in the level of thymic horomone.
HP:0003358	Elevated intracellular cystine	An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.
HP:0003359	Decreased urinary sulfate	Decreased concentration of sulfate in the urine.
HP:0003361	Tryptophanuria	An increased concentration of tryptophan in the urine.
HP:0003362	Increased VLDL cholesterol concentration	An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
HP:0003363	Abdominal situs inversus	A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.
HP:0003365	Arthralgia of the hip	Joint pain affecting the hip.
HP:0003366	Abnormal femoral neck/head morphology	
HP:0003367	Abnormal femoral neck morphology	An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
HP:0003368	Abnormal femoral head morphology	An abnormality of the femoral head.
HP:0003370	Flat capital femoral epiphysis	An abnormal flattening of the proximal epiphysis of the femur.
HP:0003371	Enlargement of the proximal femoral epiphysis	An abnormal enlargement of the proximal epiphysis of the femur.
HP:0003375	Narrow greater sciatic notch	A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
HP:0003376	Steppage gait	An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
HP:0003378	Axonal degeneration/regeneration	A pattern of simultaneous degeneration and regeneration of axons (see comment).
HP:0003380	Decreased number of peripheral myelinated nerve fibers	A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
HP:0003382	Hypertrophic nerve changes	
HP:0003383	Onion bulb formation	Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
HP:0003384	Peripheral axonal atrophy	Atrophic changes of axons of the peripheral nervous system.
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	A reduced number of large myelinated nerve fibers.
HP:0003388	Easy fatigability	Increased susceptibility to fatigue.
HP:0003390	Sensory axonal neuropathy	An axonal neuropathy of peripheral sensory nerves.
HP:0003391	Gowers sign	A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
HP:0003392	First dorsal interossei muscle weakness	
HP:0003393	Thenar muscle atrophy	Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.
HP:0003394	Muscle spasm	Sudden and involuntary contractions of one or more muscles.
HP:0003396	Syringomyelia	Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
HP:0003397	Generalized hypotonia due to defect at the neuromuscular junction	
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.
HP:0003400	Basal lamina onion bulb formation	A type of onion bulb formation prominently affecting the area of the basal lamina.
HP:0003401	Paresthesia	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
HP:0003402	Decreased miniature endplate potentials	An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
HP:0003405	Diffuse axonal swelling	
HP:0003406	Peripheral nerve compression	
HP:0003409	Distal sensory impairment of all modalities	Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.
HP:0003411	Proximal femoral metaphyseal irregularity	Irregularity of the normally smooth surface of the proximal metaphysis of the femur.
HP:0003413	Atlantoaxial abnormality	An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.
HP:0003414	Atlantoaxial dislocation	Partial dislocation of the atlantoaxial joint.
HP:0003416	Spinal canal stenosis	An abnormal narrowing of the spinal canal.
HP:0003417	Coronal cleft vertebrae	Frontal schisis (cleft or cleavage) of vertebral bodies.
HP:0003418	Back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
HP:0003419	Low back pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
HP:0003422	Vertebral segmentation defect	An abnormality related to a defect of vertebral separation during development.
HP:0003423	Thoracolumbar kyphoscoliosis	
HP:0003426	First dorsal interossei muscle atrophy	
HP:0003427	Thenar muscle weakness	
HP:0003429	CNS hypomyelination	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
HP:0003431	Decreased motor nerve conduction velocity	A type of decreased nerve conduction velocity that affects the motor neuron.
HP:0003434	Sensory ataxic neuropathy	
HP:0003435	Cold-induced hand cramps	
HP:0003436	Prolonged miniature endplate currents	An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
HP:0003438	Absent Achilles reflex	Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
HP:0003440	Horizontal sacrum	
HP:0003443	Decreased size of nerve terminals	A reduction in the size of nerve terminals.
HP:0003444	EMG: chronic denervation signs	Evidence of chronic denervation on electromyography.
HP:0003445	EMG: neuropathic changes	The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
HP:0003447	Axonal loss	A reduction in the number of axons in the peripheral nervous system.
HP:0003448	Decreased sensory nerve conduction velocity	Reduced speed of conduction of the action potential along a sensory nerve.
HP:0003449	Cold-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.
HP:0003450	Axonal regeneration	The presence of axonal regeneration following a previous axonal lesion.
HP:0003451	Increased rate of premature chromosome condensation	An increased rate of premature chromosome condensation.
HP:0003452	Increased serum iron	
HP:0003453	Antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against neutrophils.
HP:0003454	Platelet antibody positive	The presence in the serum of autoantibodies directed against thrombocytes.
HP:0003455	Elevated circulating long chain fatty acid concentration	Increased concentration of long-chain fatty acids in the blood circulation.
HP:0003456	Low urinary cyclic AMP response to PTH administration	
HP:0003457	EMG abnormality	Abnormal results of investigations using electromyography (EMG).
HP:0003458	EMG: myopathic abnormalities	The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
HP:0003459	Polyclonal elevation of IgM	A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.
HP:0003460	Decreased circulating total IgA	Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
HP:0003461	Increased urinary O-linked sialopeptides	Excretion of peptides conjugated to sialic acid in the urine.
HP:0003462	Elevated 8-dehydrocholesterol	
HP:0003463	Increased extraneuronal autofluorescent lipopigment	Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
HP:0003465	Elevated 8(9)-cholestenol	
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	
HP:0003467	Atlantoaxial instability	Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
HP:0003468	Abnormal vertebral morphology	An abnormality of one or more of the vertebrae.
HP:0003469	Peripheral dysmyelination	Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
HP:0003470	Paralysis	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
HP:0003472	Hypocalcemic tetany	Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.
HP:0003473	Fatigable weakness	A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0003474	Somatic sensory dysfunction	An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
HP:0003477	Peripheral axonal neuropathy	An abnormality characterized by disruption of the normal functioning of peripheral axons.
HP:0003481	Segmental peripheral demyelination/remyelination	A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
HP:0003482	EMG: axonal abnormality	Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.
HP:0003484	Upper limb muscle weakness	Weakness of the muscles of the arms.
HP:0003487	Babinski sign	Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
HP:0003489	Acute episodes of neuropathic symptoms	
HP:0003491	Elevated urine pyrophosphate	An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
HP:0003492	High urinary gonadotropin level	An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.
HP:0003493	Antinuclear antibody positivity	The presence of autoantibodies in the serum that react against nuclei or nuclear components.
HP:0003495	GM2-ganglioside accumulation	Cellular accumulation of GM2 gangliosides.
HP:0003496	Increased circulating IgM level	An abnormally increased level of immunoglobulin M in blood.
HP:0003498	Disproportionate short stature	A kind of short stature in which different regions of the body are shortened to differing extents.
HP:0003502	Mild short stature	A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
HP:0003508	Proportionate short stature	A kind of short stature in which different regions of the body are shortened to a comparable extent.
HP:0003510	Severe short stature	A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
HP:0003513	Reduced ratio of renal calcium clearance to creatinine clearance	A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.
HP:0003514	Deficiency or absence of cytochrome b(-245)	
HP:0003517	Birth length greater than 97th percentile	
HP:0003521	Disproportionate short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
HP:0003524	Decreased methionine synthase activity	A reduction in methionine synthase activity.
HP:0003526	Orotic acid crystalluria	Formation of crystals owing to an increased concentration of orotic acid in the urine.
HP:0003527	Hyperprostaglandinuria	An increased concentration of prostaglandin in the urine.
HP:0003528	Elevated calcitonin	
HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.
HP:0003530	Elevated circulating glutaric acid concentration	An increased concentration of glutaric acid in the blood.
HP:0003532	Ornithinuria	An increased concentration of ornithine in the urine.
HP:0003533	Reduced acetaldehyde dehydrogenase level	Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.
HP:0003534	Reduced xanthine dehydrogenase level	An abnormal reduction in xanthine dehydrogenase level.
HP:0003535	3-Methylglutaconic aciduria	An increased amount of 3-methylglutaconic acid in the urine.
HP:0003536	Decreased fumarate hydratase activity	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.
HP:0003537	Hypouricemia	An abnormally low level of uric acid in the blood.
HP:0003538	Increased iduronate sulfatase level	An increased level of iduronate-2-sulfatase activity in the blood.
HP:0003540	Impaired platelet aggregation	An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
HP:0003541	Urinary glycosaminoglycan excretion	Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.
HP:0003542	Increased serum pyruvate	An increased concentration of pyruvate in the blood.
HP:0003546	Exercise intolerance	A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
HP:0003547	Shoulder girdle muscle weakness	The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.
HP:0003549	Abnormality of connective tissue	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
HP:0003550	Predominantly lower limb lymphedema	Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
HP:0003551	Difficulty climbing stairs	Reduced ability to climb stairs.
HP:0003552	Muscle stiffness	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
HP:0003554	Type 2 muscle fiber atrophy	Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
HP:0003555	Muscle fiber splitting	Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
HP:0003557	Increased variability in muscle fiber diameter	An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
HP:0003558	Viral infection-induced rhabdomyolysis	Rhabdomyolysis induced by a viral infection.
HP:0003559	Muscle hyperirritability	
HP:0003560	Muscular dystrophy	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
HP:0003561	Birth length less than 3rd percentile	
HP:0003562	Abnormal metaphyseal vascular invasion	
HP:0003563	Decreased LDL cholesterol concentration	An decreased concentration of low-density lipoprotein cholesterol in the blood.
HP:0003564	Folate-dependent fragile site at Xq28	The presence of a folate sensitive fragile site at chromosome Xq28.
HP:0003565	Elevated erythrocyte sedimentation rate	An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
HP:0003566	Increased serum prostaglandin E2	An increased concentration of prostaglandin E2 in the blood.
HP:0003568	Decreased glucosephosphate isomerase level	A decreased level of glucose-6-phosphate isomerase.
HP:0003570	Molybdenum cofactor deficiency	Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.
HP:0003571	Propionic acidemia	Increased concentration of proprionic acid in the blood circulation.
HP:0003572	Low plasma citrulline	A decreased concentration of citrulline in the blood.
HP:0003573	Increased total bilirubin	Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
HP:0003574	Positive regitine blocking test	A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.
HP:0003575	Increased intracellular sodium	An abnormally increased sodium concentration in the cytosol.
HP:0003577	Congenital onset	A phenotypic abnormality that is present at birth.
HP:0003581	Adult onset	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
HP:0003584	Late onset	A type of adult onset with onset of symptoms after the age of 60 years.
HP:0003587	Insidious onset	Gradual, very slow onset of disease manifestations.
HP:0003593	Infantile onset	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0003596	Middle age onset	A type of adult onset with onset of symptoms at the age of 40 to 60 years.
HP:0003606	Absent urinary urothione	Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.
HP:0003607	4-hydroxyphenylacetic aciduria	Increased concentration of 4-hydroxyphenylacetic acid in the urine.
HP:0003609	Foam cells with lamellar inclusion bodies	The presence of foam cells that contain lamellar inclusion bodies.
HP:0003610	Fibroblast metachromasia	Increased cytoplasmic staining of fibroblasts with toluidine blue.
HP:0003612	Positive ferric chloride test	If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.
HP:0003613	Antiphospholipid antibody positivity	The presence of circulating autoantibodies to phospholipids.
HP:0003614	Trimethylaminuria	Increased concentration of trimethylamine in the urine.
HP:0003616	Premature separation of centromeric heterochromatin	
HP:0003621	Juvenile onset	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0003623	Neonatal onset	Onset of signs or symptoms of disease within the first 28 days of life.
HP:0003634	Amyoplasia	Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.
HP:0003635	Loss of subcutaneous adipose tissue in limbs	Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
HP:0003637	Reduced 4-Hydroxyphenylpyruvate dioxygenase level	An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.
HP:0003639	Elevated urinary epinephrine	An increased concentration of adrenaline in the urine.
HP:0003640	CNS foam cells	The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.
HP:0003641	Hemoglobinuria	The presence of free hemoglobin in the urine.
HP:0003642	Type I transferrin isoform profile	Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.
HP:0003643	Sulfite oxidase deficiency	Abnormally reduced sulfite oxidase level.
HP:0003645	Prolonged partial thromboplastin time	Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
HP:0003646	Bicarbonaturia	Abnormally increased concentration of hydrogencarbonate in the urine.
HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.
HP:0003648	Lacticaciduria	An increased concentration of lactic acid in the urine.
HP:0003649	Abnormality of glycoside metabolism	Abnormality of glycoside metabolism.
HP:0003651	Foam cells	The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.
HP:0003652	Recurrent myoglobinuria	Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.
HP:0003653	Cellular metachromasia	Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.
HP:0003654	Reduced dihydropyrimidine dehydrogenase level	An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.
HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.
HP:0003656	Decreased beta-glucocerebrosidase level	Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.
HP:0003657	Granular osmiophilic deposits (GROD) in cells	
HP:0003658	Hypomethioninemia	A decreased concentration of methionine in the blood.
HP:0003665	Amyotrophy of the musculature of the pelvis	Muscular atrophy affecting the muscles of the pelvis.
HP:0003674	Onset	The age group in which disease manifestations appear.
HP:0003676	Progressive	Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.
HP:0003677	Slowly progressive	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.
HP:0003678	Rapidly progressive	Applies to a disease manifestation that quickly increases in scope or severity over the course of time.
HP:0003679	Pace of progression	
HP:0003680	Nonprogressive	Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.
HP:0003682	Variable progression rate	Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.
HP:0003687	Centrally nucleated skeletal muscle fibers	An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
HP:0003688	Cytochrome C oxidase-negative muscle fibers	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
HP:0003689	Multiple mitochondrial DNA deletions	The presence of multiple deletions of mitochondrial DNA (mtDNA).
HP:0003690	Limb muscle weakness	Reduced strength and weakness of the muscles of the arms and legs.
HP:0003691	Scapular winging	Abnormal protrusion of the scapula away from the surface of the back.
HP:0003693	Distal amyotrophy	Muscular atrophy affecting muscles in the distal portions of the extremities.
HP:0003694	Late-onset proximal muscle weakness	Lack of strength of the proximal musculature occurring late in the clinical course.
HP:0003696	Absent epiphysis of the distal phalanx of the 5th finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.
HP:0003697	Scapuloperoneal amyotrophy	Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.
HP:0003698	Difficulty standing	
HP:0003700	Generalized amyotrophy	Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
HP:0003701	Proximal muscle weakness	A lack of strength of the proximal muscles.
HP:0003704	Scapuloperoneal weakness	
HP:0003707	Calf muscle pseudohypertrophy	Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
HP:0003710	Exercise-induced muscle cramps	Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
HP:0003712	Skeletal muscle hypertrophy	Abnormal increase in muscle size and mass not due to training.
HP:0003713	Muscle fiber necrosis	Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
HP:0003715	Myofibrillar myopathy	Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.
HP:0003716	Generalized muscular appearance from birth	
HP:0003717	Minimal subcutaneous fat	
HP:0003719	Muscle mounding	Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.
HP:0003720	Generalized muscle hypertrophy	Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.
HP:0003722	Neck flexor weakness	Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
HP:0003724	Shoulder girdle muscle atrophy	Amyotrophy affecting the muscles of the shoulder girdle.
HP:0003725	Firm muscles	
HP:0003729	Enteroviral dermatomyositis syndrome	
HP:0003730	EMG: myotonic runs	Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
HP:0003731	Quadriceps muscle weakness	Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).
HP:0003733	Thigh hypertrophy	Muscle hypertrophy affecting the thighs.
HP:0003736	Autophagic vacuoles	The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.
HP:0003737	Mitochondrial myopathy	A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
HP:0003738	Exercise-induced myalgia	The occurrence of an unusually high amount of muscle pain following exercise.
HP:0003739	Myoclonic spasms	
HP:0003740	Myotonia with warm-up phenomenon	Myotonia that occurs after a period of rest and decreases with continuing exercise.
HP:0003741	Congenital muscular dystrophy	
HP:0003743	Genetic anticipation	A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.
HP:0003744	Genetic anticipation with paternal anticipation bias	A type of genetic anticipation observed predominantly upon transmission from affected males.
HP:0003745	Sporadic	Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
HP:0003749	Pelvic girdle muscle weakness	Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
HP:0003750	Increased muscle fatiguability	An abnormal, increased fatiguability of the musculature.
HP:0003752	Episodic flaccid weakness	Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.
HP:0003755	Type 1 fibers relatively smaller than type 2 fibers	The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.
HP:0003756	Skeletal myopathy	
HP:0003758	Reduced subcutaneous adipose tissue	A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
HP:0003759	Hypoplasia of lymphatic vessels	Congenital underdevelopment of lymph vessels.
HP:0003760	Percussion-induced rapid rolling muscle contractions	Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.
HP:0003761	Calcinosis	Formation of calcium deposits in any soft tissue.
HP:0003762	Uterus didelphys	A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.
HP:0003763	Bruxism	Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.
HP:0003764	Nevus	A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
HP:0003765	Psoriasiform dermatitis	A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
HP:0003768	Periodic paralysis	Episodes of muscle weakness.
HP:0003771	Pulp calcification	Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.
HP:0003774	Stage 5 chronic kidney disease	A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
HP:0003777	Pili torti	Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
HP:0003778	Short mandibular rami	
HP:0003779	Antegonial notching of mandible	
HP:0003781	Excessive salivation	Excessive production of saliva.
HP:0003782	Eunuchoid habitus	A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).
HP:0003784	Type 1 collagen overmodification	
HP:0003785	Decreased CSF homovanillic acid concentration	Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.
HP:0003787	Type 1 and type 2 muscle fiber minicore regions	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.
HP:0003789	Minicore myopathy	Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.
HP:0003791	Deposits immunoreactive to beta-amyloid protein	
HP:0003795	Short middle phalanx of toe	Developmental hypoplasia (shortening) of middle phalanx of toe.
HP:0003796	Irregular iliac crest	Irregularity of the iliac crest, which is the superior border of the wing of the ilium.
HP:0003797	Limb-girdle muscle atrophy	Muscular atrophy affecting the muscles of the limb girdle.
HP:0003798	Nemaline bodies	Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.
HP:0003799	Marked delay in bone age	
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	
HP:0003803	Type 1 muscle fiber predominance	An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
HP:0003805	Rimmed vacuoles	Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
HP:0003808	Abnormal muscle tone	
HP:0003809	Reduced intrathoracic adipose tissue	An abnormally reduced amount of adipose tissue in the thoracic cavity.
HP:0003810	Late-onset distal muscle weakness	
HP:0003811	Neonatal death	Death within the first 28 days of life.
HP:0003812	Phenotypic variability	A variability of phenotypic features.
HP:0003819	Death in childhood	Death in during childhood, defined here as between the ages of 2 and 10 years.
HP:0003826	Stillbirth	Death of the fetus in utero after at least 22 weeks of gestation.
HP:0003828	Variable expressivity	A variable severity of phenotypic features.
HP:0003829	Typified by incomplete penetrance	Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.
HP:0003831	Typified by age-related disease onset	Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.
HP:0003832	Abnormality of the tibial plateaux	
HP:0003833	Laterally deficient tibial plateaux	
HP:0003834	Shoulder dislocation	A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.
HP:0003835	Shoulder subluxation	A partial dislocation of the shoulder joint.
HP:0003836	Stippled calcification of the shoulder	
HP:0003837	Soft-tissue ossification around the shoulders	Formation of calcified tissue in the soft tissues surrounding the shoulder.
HP:0003839	Abnormality of upper limb epiphysis morphology	
HP:0003840	Delayed upper limb epiphyseal ossification	A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.
HP:0003841	Fragmented epiphyses of the upper limbs	
HP:0003842	Irregular epiphyses of the upper limbs	
HP:0003843	Round epiphyses of the upper limbs	
HP:0003844	Small epiphyses of the upper limbs	
HP:0003846	Wide epiphyseal plates of the upper limbs	
HP:0003848	Cupped metaphyses of the upper limbs	
HP:0003849	Flared upper limb metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.
HP:0003850	Upper-limb metaphyseal irregularity	
HP:0003851	Lytic defects in metaphyses of the upper limbs	
HP:0003852	Normal density transverse bands in metaphyses of the upper limbs	
HP:0003853	Sclerosis with transverse striations in metaphyses of the upper limbs	
HP:0003854	Sclerosis of metaphyses of the upper limbs	
HP:0003855	Spurred metaphyses of the upper limbs	
HP:0003856	Upper limb metaphyseal widening	Increased width (breadth) of metaphyses of the arms.
HP:0003858	Cortical diaphyseal irregularity of the upper limbs	
HP:0003859	Cortical diaphyseal thickening of the upper limbs	
HP:0003860	Diaphyseal sclerosis of the upper limbs	An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0003861	Broad diaphyses of the upper limbs	
HP:0003862	Absent humerus	Missing humerus bone associated with congenital failure of development.
HP:0003863	Angulated humerus	
HP:0003864	Bifid humerus	Clefting affecting the humerus.
HP:0003865	Bowed humerus	A bending or abnormal curvature of the humerus.
HP:0003866	Coarse humeral trabeculae	
HP:0003867	Humeral cortical irregularity	
HP:0003868	Humeral cortical thickening	
HP:0003869	Humeral cortical thinning	
HP:0003870	Crumpled humerus	
HP:0003871	Deformed humerus	
HP:0003872	Humeral exostoses	Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
HP:0003874	Humerus varus	
HP:0003875	Humeral lytic defects	Destruction of an area of humerus bone due to a disease process, such as cancer.
HP:0003876	Osteoporotic humerus	
HP:0003877	Oval transradiancy of humerus	
HP:0003878	Periosteal new bone of humerus	
HP:0003879	Humeral pseudarthrosis	
HP:0003880	Sclerotic foci of the humerus	
HP:0003881	Humeral sclerosis	
HP:0003882	Slender humerus	Reduction in diameter of the humerus.
HP:0003883	Tapered humerus	
HP:0003884	Triangular humerus	
HP:0003885	Undermodeled humerus	
HP:0003886	Wide humerus	
HP:0003887	Abnormal humeral head morphology	
HP:0003888	Flattened humeral heads	
HP:0003889	Abnormal deltoid tuberosity morphology	
HP:0003890	Prominent deltoid tuberosities	
HP:0003891	Abnormality of the humeral epiphysis	An anomaly of the humeral epiphysis.
HP:0003892	Absent humeral epiphyseal ossification	Lack of formation of bone in the epiphysis of the humerus.
HP:0003893	Advanced ossification of the humeral epiphysis	Ossification of the humeral epiphysis at an earlier age than normal.
HP:0003894	Delayed humeral epiphyseal ossification	A delay in the process of formation and maturation of the humeral epiphysis.
HP:0003895	Flattened humeral epiphyses	
HP:0003896	Irregular humeral epiphyses	
HP:0003897	Irregular ossification of the humeral epiphyses	
HP:0003898	Large humeral epiphyses	
HP:0003899	Round humeral epiphyses	
HP:0003900	Small humeral epiphyses	
HP:0003901	Stippled calcification of the humeral epiphyses	
HP:0003902	Epiphyseal stippling of the humerus	The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.
HP:0003903	Broad humeral epiphyses	Increased width of the humeral epiphysis.
HP:0003904	Wide epiphyses of the upper limbs	
HP:0003905	Abnormality of the humeral epiphyseal plate	
HP:0003906	Broad humeral epiphyseal plate	Increased width of the humeral epiphyseal growth plate.
HP:0003907	Abnormal humeral metaphysis morphology	
HP:0003908	Corner fracture of metaphysis	Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.
HP:0003909	Cortical subperiosteal resorption of humeral metaphyses	
HP:0003910	Enlarged humeral metaphyses	
HP:0003911	Flared humeral metaphysis	Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
HP:0003912	Frayed humeral metaphyses	
HP:0003913	Humeral metaphyseal irregularity	
HP:0003914	Irregular ossification of humeral metaphyses	
HP:0003915	Lytic defects of the humeral metaphysis	
HP:0003916	Normal-density transverse humeral bands	
HP:0003917	Pointed humeral metaphysis	
HP:0003918	Sclerotic humeral metaphysis	
HP:0003919	Sclerotic humeral metaphysis with longitudinal striations	
HP:0003920	Sloping humeral metaphysis	
HP:0003921	Laterally sloping humeral metaphysis	
HP:0003922	Spurred humeral metaphysis	
HP:0003923	Square humeral metaphysis	
HP:0003924	Stippled calcification of humeral metaphysis	
HP:0003926	Abnormal humeral diaphysis morphology	An anomaly of the humeral diaphysis.
HP:0003927	Cortical irregularity of humeral diaphysis	An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.
HP:0003928	Cortical thickening of humeral diaphysis	
HP:0003929	Ground glass opacity of humeral diaphysis	
HP:0003930	Lytic defects of humeral diaphysis	
HP:0003931	Periosteal new bone of humeral diaphysis	
HP:0003932	Sclerotic foci of humeral diaphysis	
HP:0003933	Sclerosis of humeral diaphysis	
HP:0003934	Slender humeral diaphysis	
HP:0003935	Wide humeral diaphysis	Increased width of the humeral diaphysis.
HP:0003938	Synostosis involving the elbow	
HP:0003939	Humeroulnar synostosis	An abnormal osseous union (fusion) between the ulna and the humerus.
HP:0003940	Osteoarthritis of the elbow	
HP:0003941	Stippled calcification of the elbow	
HP:0003942	Synovial chondromatosis of the elbow	
HP:0003943	Abnormality of the joint spaces of the elbow	
HP:0003944	Narrow joint spaces of the elbow	
HP:0003945	Irregular articular surfaces of the elbow joints	
HP:0003946	Abnormality of the epiphyses of the elbow	
HP:0003947	Delayed elbow epiphyseal ossification	A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.
HP:0003948	Irregular epiphyses of the elbow	
HP:0003949	Abnormal elbow metaphysis morphology	
HP:0003950	Flared elbow metaphyses	
HP:0003951	Distal humeral metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).
HP:0003952	Sclerotic foci of metaphyses of the elbow	
HP:0003953	Absent forearm bone	Absence of one or more forearm bones associated with congenital failure of development.
HP:0003954	Angulated forearm bones	
HP:0003955	Bone-in-a-bone appearance of forearm	A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.
HP:0003956	Bowed forearm bones	A bending or abnormal curvature affecting either the radius, the ulna, or both.
HP:0003957	Cortical thickening of the forearm bones	
HP:0003958	Cross-fusion of the forearm bones	
HP:0003959	Deformed forearm bones	
HP:0003960	Exostoses of the forearm bones	
HP:0003961	Fractured forearm bones	Bone fracture in the radius, ulna, or wrist.
HP:0003963	Lytic defects of the forearm bones	
HP:0003964	Osteoporotic forearm bones	
HP:0003965	Pseudarthrosis of the forearm bones	
HP:0003966	Sclerotic foci in forearm bones	
HP:0003967	Sclerotic forearm bones	
HP:0003969	Slender forearm bones	
HP:0003970	Undermodelled forearm bones	
HP:0003971	Broad forearm bones	Abnormally wide bone of the skeleton of forearm.
HP:0003973	Wide radioulnar joints	
HP:0003974	Absent radius	Missing radius bone associated with congenital failure of development.
HP:0003976	Constricted radius	
HP:0003977	Deformed radius	
HP:0003978	Fractured radius	
HP:0003979	Lytic defects of the radius	
HP:0003980	Pseudarthrosis of the radius	
HP:0003981	Broad radius	Increased width of the radius.
HP:0003982	Aplasia of the ulna	Missing ulna bone associated with congenital failure of development.
HP:0003984	Posteriorly dislocated ulna	
HP:0003985	Exostoses of the ulna	
HP:0003986	Exostoses of the radius	
HP:0003987	Fractured ulna	
HP:0003988	Long ulna	Increased length of the ulna.
HP:0003989	Notched ulna	
HP:0003990	Pointed ulna	
HP:0003991	Osteosclerosis of the ulna	Osteosclerosis (increased density related to increased bone mass) of the ulna.
HP:0003992	Slender ulna	Reduction in diameter of the ulna.
HP:0003993	Broad ulna	Increased width of the ulna.
HP:0003994	Dislocated wrist	An injury of the wrist with displacement of any of the eight carpal bones.
HP:0003995	Abnormality of the radial head	
HP:0003996	Flattened radial head	
HP:0003997	Hypoplastic radial head	
HP:0003998	Constricted radial neck	
HP:0003999	Abnormality of radial epiphyses	
HP:0004000	Cone-shaped distal radial epiphysis	The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.
HP:0004001	Medially deficient radial epiphyses	
HP:0004002	Flattened radial epiphyses	
HP:0004003	Medially flattened radial epiphyses	
HP:0004004	Irregular radial epiphyses	
HP:0004005	Large radial epiphyses	
HP:0004006	Round radial epiphyses	
HP:0004007	Sclerotic radial epiphyses	
HP:0004008	Sloping radial epiphyses	
HP:0004009	Medially sloping radial epiphyses	
HP:0004010	Small radial epiphyses	
HP:0004012	Premature fusion of the radial epiphyseal plates	A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.
HP:0004013	Medially fused radial epiphyseal plates	
HP:0004014	Broad radial epiphyseal plate	Abnormal increase in width of the epiphyseal growth plate of the radius.
HP:0004015	Abnormal radial metaphysis morphology	
HP:0004016	Cupped radial metaphyses	
HP:0004017	Exostoses of the radial metaphysis	
HP:0004018	Flared radial metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.
HP:0004019	Radial metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis of the radius.
HP:0004020	Irregular ossification of the radial metaphysis	
HP:0004021	Lytic defects of radial metaphysis	
HP:0004022	Sclerotic radial metaphysis with longitudinal striations	
HP:0004023	Sloping radial metaphysis	
HP:0004024	Medially sloping radial metaphysis	
HP:0004025	Spurred radial metaphysis	
HP:0004026	Broad radial metaphysis	Increase in width (breadth) of the radial metaphysis.
HP:0004027	Abnormality of radial diaphysis	An anomaly of the radial diaphysis.
HP:0004028	Spurs of radial diaphysis	
HP:0004029	Lytic defects of radial diaphysis	
HP:0004030	Patchy sclerosis of radial diaphysis	
HP:0004031	Broad radial diaphysis	Increase in width of the diaphysis of radius.
HP:0004032	Abnormal olecranon morphology	Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.
HP:0004033	Curved olecranon	
HP:0004034	Irregular olecranon	
HP:0004035	Abnormal ulnar styloid process morphology	
HP:0004036	Long styloid process of ulna	
HP:0004037	Abnormal ulnar epiphysis morphology	
HP:0004039	Abnormal ulnar metaphysis morphology	Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.
HP:0004040	Corner fragments of ulnar metaphysis	
HP:0004041	Cupped ulnar metaphysis	
HP:0004042	Ulnar metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis of the ulna.
HP:0004043	Lytic defects of ulnar metaphysis	
HP:0004044	Pointed ulnar metaphysis	
HP:0004045	Sloping ulnar metaphysis	A sloped configuration of the metaphysis (shaft) of the ulna.
HP:0004046	Spurred ulnar metaphysis	
HP:0004047	Wide ulnar metaphysis	Increase in width (breadth) of the ulnar metaphysis.
HP:0004048	Narrow joint spaces of wrist	
HP:0004049	Decreased carpal angles of wrist	
HP:0004050	Absent hand	The total absence of the hand, with no bony elements distal to the radius or ulna.
HP:0004051	Advanced ossification of the hand bones	Ossification of hand bones at an earlier age than normal.
HP:0004052	Delayed ossification of the hand bones	Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.
HP:0004053	Dysharmonic maturation of the hand bones	Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.
HP:0004054	Sclerosis of hand bone	Osteosclerosis affecting one or more bones of the hand.
HP:0004057	Mitten deformity	Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
HP:0004058	Hand monodactyly	
HP:0004059	Radial club hand	Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.
HP:0004060	Trident hand	A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
HP:0004095	Curved fingers	
HP:0004097	Deviation of finger	Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.
HP:0004099	Macrodactyly	Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
HP:0004100	Abnormal 2nd finger morphology	An anomaly of the second finger, also known as the index finger.
HP:0004112	Midline nasal groove	An abnormal groove on the midline of the nose that may extend to the nasal tip.
HP:0004122	Midline defect of the nose	This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.
HP:0004132	Dimple on nasal tip	An abnormal indentation of the skin in the region of the nasal tip.
HP:0004150	Abnormal 3rd finger morphology	An anomaly of the third finger.
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	
HP:0004180	Short distal phalanx of the 3rd finger	Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.
HP:0004188	Abnormal 4th finger morphology	
HP:0004195	Osteolytic defects of the phalanges of the 4th finger	Osteolytic defects of the phalanges of the 4th (ring) finger.
HP:0004197	Symphalangism of the 4th finger	Fusion of two or more bones of the 4th finger.
HP:0004207	Abnormal 5th finger morphology	An abnormality affecting one or both 5th fingers.
HP:0004209	Clinodactyly of the 5th finger	Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
HP:0004213	Abnormal 5th finger phalanx morphology	Abnormality of the phalanges of the 5th (little) finger.
HP:0004214	Curved phalanges of the 5th finger	Curved phalanges of the 5th (little) finger.
HP:0004216	Osteolytic defects of the phalanges of the 5th finger	Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.
HP:0004218	Symphalangism of the 5th finger	Fusion of two or more bones of the 5th finger.
HP:0004219	Abnormality of the middle phalanx of the 5th finger	
HP:0004220	Short middle phalanx of the 5th finger	Hypoplastic/small middle phalanx of the fifth finger.
HP:0004222	Cone-shaped epiphysis of the distal phalanx of the 5th finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0004223	Ivory epiphysis of the distal phalanx of the 5th finger	Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0004224	Abnormality of the epiphysis of the middle phalanx of the 5th finger	Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
HP:0004225	Abnormality of the distal phalanx of the 5th finger	Abnormality of the distal phalanx of the 5th (little) finger.
HP:0004226	Curved distal phalanx of the 5th finger	Curved appearance of the distal phalanx of the 5th (little) finger.
HP:0004227	Short distal phalanx of the 5th finger	Hypoplastic/small distal phalanx of the fifth finger.
HP:0004230	Subluxation of the proximal interphalangeal joint of the little finger	A partial dislocation of the proximal interphalangeal joint of the little finger.
HP:0004231	Carpal bone aplasia	Congenital absence of a carpal bone.
HP:0004232	Accessory carpal bones	The presence of more than the normal number of carpal bones.
HP:0004233	Advanced ossification of carpal bones	Ossification of carpal bones at an abnormally early age.
HP:0004234	Bone-in-a-bone appearance of carpal bones	The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.
HP:0004235	Comma-shaped carpal bones	
HP:0004236	Irregular carpal bones	Carpal bones with irregular or fragmented margins.
HP:0004237	Large carpal bones	Increased size of carpal bones.
HP:0004238	Lytic defects of carpal bones	
HP:0004239	Proximally placed carpal bones	
HP:0004240	Sclerotic foci within carpal bones	
HP:0004241	Stippled calcification in carpal bones	Point-shaped (punctate) calcifications affecting the carpal bones.
HP:0004242	Broad carpal bones	
HP:0004243	Abnormality of the scaphoid	
HP:0004244	Accessory scaphoid	
HP:0004245	Comma-shaped scaphoid	
HP:0004246	Delayed ossification of the scaphoid	Formation of bone tissue of scaphoid is less than expected for age.
HP:0004247	Small scaphoid	Underdevelopment of the scaphoid.
HP:0004248	Abnormality of the lunate bone	
HP:0004249	Accessory lunate	
HP:0004250	Proximally placed lunate	
HP:0004251	Lunate-triquetral fusion	Osseous fusion of the lunate and triquetrum.
HP:0004252	Abnormality of the trapezium	An anomaly of trapezium.
HP:0004253	Absent trapezium	
HP:0004254	Delayed ossification of the trapezium	Formation of bone tissue of trapezium is less than expected for age.
HP:0004255	Small trapezium	Underdevelopment of the trapezium.
HP:0004256	Abnormality of the trapezoid bone	
HP:0004257	Delayed ossification of the trapezoid bone	Formation of bone tissue of trapezoid is less than expected for age.
HP:0004258	Small trapezoid bone	Underdevelopment of the trapezoid.
HP:0004259	Abnormality of the hamate bone	
HP:0004260	Large hamate bone	
HP:0004261	Wide hamate bone	
HP:0004262	Abnormality of the capitate bone	
HP:0004263	Large capitate bone	
HP:0004264	Narrow carpal joint spaces	
HP:0004267	Narrow small joints of the hand	
HP:0004268	Osteoarthritis of the small joints of the hand	
HP:0004269	Subluxation of the small joints of the hand	A partial dislocation of some or all of the small joints of the hand.
HP:0004271	Cortical thickening of hand bones	
HP:0004272	Cortical thinning of hand bones	
HP:0004273	Cupped metaphyses of hand bones	
HP:0004274	Deficient ossification of hand bones	
HP:0004275	Duplication of hand bones	
HP:0004276	Exostoses of hand bones	Abnormal formation of new bone on the surface of a bone of the hand.
HP:0004277	Fractured hand bones	
HP:0004278	Synostosis involving bones of the hand	An abnormal union between bones or parts of bones of the hand.
HP:0004279	Short palm	Short palm.
HP:0004280	Irregular ossification of hand bones	
HP:0004281	Irregular sclerosis of hand bones	
HP:0004283	Narrow palm	For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.
HP:0004284	Notched hand bones	
HP:0004285	Overmodelled hand bones	
HP:0004286	Patchy sclerosis of hand bones	
HP:0004287	Pointed hand bones	
HP:0004288	Pseudoepiphyses of hand bones	
HP:0004289	Sclerotic foci in hand bones	
HP:0004290	Sclerosis of hand bones with transverse striations	
HP:0004291	Stippled calcification of hand bones	
HP:0004292	Undermodelled hand bones	
HP:0004293	Synostosis of second metacarpal-trapezoid	Fusion of the second metacarpal-trapezoid.
HP:0004294	Subluxation of metacarpal phalangeal joints	A partial dislocation affecting some or all of the metacarpophalangeal joints.
HP:0004295	Abnormal gastric mucosa morphology	An abnormality of the gastric mucous membrane.
HP:0004296	Abnormal gastrointestinal vascular morphology	
HP:0004297	Abnormality of the biliary system	An abnormality of the biliary system.
HP:0004298	Abnormality of the abdominal wall	The presence of any abnormality affecting the abdominal wall.
HP:0004299	Hernia of the abdominal wall	The presence of a hernia in the abdominal wall.
HP:0004302	Functional motor deficit	
HP:0004303	Abnormal muscle fiber morphology	Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
HP:0004305	Involuntary movements	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
HP:0004306	Abnormal endocardium morphology	An abnormality of the endocardium.
HP:0004307	Abnormal anatomic location of the heart	Developmental defect characterized by an anomalous anatomic location of the heart.
HP:0004308	Ventricular arrhythmia	
HP:0004309	Ventricular preexcitation	An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.
HP:0004311	Abnormal macrophage morphology	An abnormality of macrophages.
HP:0004312	Abnormal reticulocyte morphology	A reticulocyte abnormality.
HP:0004313	Decreased circulating antibody level	An abnormally decreased level of immunoglobulin in blood.
HP:0004315	Decreased circulating IgG level	An abnormally decreased level of immunoglobulin G (IgG) in blood.
HP:0004319	Decreased circulating aldosterone level	Abnormally reduced levels of aldosterone.
HP:0004320	Vaginal fistula	The presence of a fistula of the vagina.
HP:0004321	Bladder fistula	The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.
HP:0004322	Short stature	A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
HP:0004323	Abnormality of body weight	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
HP:0004324	Increased body weight	Abnormally increased body weight.
HP:0004325	Decreased body weight	Abnormally low body weight.
HP:0004326	Cachexia	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
HP:0004327	Abnormal vitreous humor morphology	Any structural anomaly of the vitreous body.
HP:0004328	Abnormal anterior eye segment morphology	An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).
HP:0004329	Abnormal posterior eye segment morphology	
HP:0004330	Increased skull ossification	An increase in the magnitude or amount of ossification of the skull.
HP:0004331	Decreased skull ossification	A reduction in the magnitude or amount of ossification of the skull.
HP:0004332	Abnormal lymphocyte morphology	An abnormality of lymphocytes.
HP:0004333	Bone-marrow foam cells	The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.
HP:0004334	Dermal atrophy	Partial or complete wasting (atrophy) of the skin.
HP:0004336	Myelin outfoldings	The presence of excessive redundant myelin in the peripheral nerve sheath.
HP:0004337	Abnormality of amino acid metabolism	Abnormality of an amino acid metabolic process.
HP:0004338	Abnormal circulating aromatic amino acid concentration	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.
HP:0004339	Abnormal circulating sulfur amino acid concentration	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.
HP:0004340	Abnormality of vitamin B metabolism	
HP:0004341	Abnormality of vitamin B12 metabolism	
HP:0004342	Abnormality of galactoside metabolism	Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.
HP:0004343	Abnormal glycosphingolipid metabolism	An abnormality of glycosphingolipid metabolism.
HP:0004344	Abnormality of cerebrosidase metabolism	
HP:0004345	Ganglioside accumulation	Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).
HP:0004347	Weakness of muscles of respiration	Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.
HP:0004348	Abnormality of bone mineral density	This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
HP:0004349	Reduced bone mineral density	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
HP:0004352	Abnormal circulating purine concentration	Any deviation from the normal concentration of a purine in the blood circulation.
HP:0004353	Abnormal circulating pyrimidine concentration	Any deviation from the normal concentration of a pyrimidine in the blood circulation.
HP:0004354	Abnormal circulating carboxylic acid concentration	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.
HP:0004356	Abnormality of lysosomal metabolism	
HP:0004357	Abnormal circulating leucine concentration	Any deviation from the normal circulation of leucine in the blood circulation.
HP:0004358	Abnormality of superoxide metabolism	
HP:0004359	Abnormal circulating fatty-acid concentration	A deviation from the normal concentration of a fatty acid in the blood circulation.
HP:0004360	Abnormality of acid-base homeostasis	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
HP:0004361	Abnormal circulating leptin concentration	An abnormal concentration of leptin in the blood.
HP:0004362	Abnormality of enteric ganglion morphology	An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.
HP:0004363	Abnormal circulating calcium concentration	Any deviation from the normal concentration of calcium in the blood circulation.
HP:0004364	Abnormal circulating nitrogen compound concentration	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.
HP:0004365	Abnormal circulating tryptophan concentration	Any deviation from the normal concentration of tryptophan in the blood circulation.
HP:0004366	Abnormality of glycolysis	An abnormality of glycolysis.
HP:0004368	Increased circulating purine concentration	Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.
HP:0004369	Decreased circulating purine concentration	Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.
HP:0004370	Abnormality of temperature regulation	An abnormality of temperature homeostasis.
HP:0004371	Abnormality of glycosaminoglycan metabolism	Abnormality of glycosaminoglycan metabolism.
HP:0004372	Reduced consciousness/confusion	
HP:0004373	Focal dystonia	A type of dystonia that is localized to a specific part of the body.
HP:0004374	Hemiplegia/hemiparesis	Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
HP:0004375	Neoplasm of the nervous system	A tumor (abnormal growth of tissue) of the nervous system.
HP:0004376	Neuroblastic tumor	A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.
HP:0004377	Hematological neoplasm	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
HP:0004378	Abnormality of the anus	Abnormality of the anal canal.
HP:0004379	Abnormality of alkaline phosphatase level	An abnormality of alkaline phosphatase level.
HP:0004380	Aortic valve calcification	Deposition of calcium salts in the aortic valve.
HP:0004381	Supravalvular aortic stenosis	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.
HP:0004382	Mitral valve calcification	Abnormal calcification of the mitral valve.
HP:0004383	Hypoplastic left heart	Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
HP:0004384	Type I truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.
HP:0004385	Protracted diarrhea	
HP:0004386	Gastrointestinal inflammation	Inflammation of the alimentary part of the gastrointestinal system.
HP:0004387	Enterocolitis	An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
HP:0004388	Microcolon	A colon of abnormally small caliber.
HP:0004389	Intestinal pseudo-obstruction	A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.
HP:0004390	Hamartomatous polyposis	Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
HP:0004392	Prune belly	A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.
HP:0004394	Multiple gastric polyps	
HP:0004395	Malnutrition	A deficiency in the intake of energy and nutrients.
HP:0004396	Poor appetite	A reduced desire to eat.
HP:0004397	Ectopic anus	Abnormal displacement or malposition of the anus.
HP:0004398	Peptic ulcer	The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the oesophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.
HP:0004399	Congenital pyloric atresia	Congenital atresia of the pylorus.
HP:0004400	Abnormality of the pylorus	An abnormality of the pylorus.
HP:0004401	Meconium ileus	Obstruction of the intestine due to abnormally thick meconium.
HP:0004403	Proximal esophageal atresia	
HP:0004404	Abnormal nipple morphology	An abnormality of the nipple.
HP:0004405	Prominent nipples	
HP:0004406	Spontaneous, recurrent epistaxis	
HP:0004407	Bony paranasal bossing	
HP:0004408	Abnormality of the sense of smell	An anomaly in the ability to perceive and distinguish scents (odors).
HP:0004409	Hyposmia	A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
HP:0004411	Deviated nasal septum	Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
HP:0004414	Abnormality of the pulmonary artery	An abnormality of the pulmonary artery.
HP:0004415	Pulmonary artery stenosis	An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0004416	Precocious atherosclerosis	
HP:0004417	Intermittent claudication	Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.
HP:0004418	Thrombophlebitis	Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
HP:0004419	Recurrent thrombophlebitis	Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
HP:0004420	Arterial thrombosis	The formation of a blood clot inside an artery.
HP:0004421	Elevated systolic blood pressure	Abnormal increase in systolic blood pressure.
HP:0004422	Biparietal narrowing	A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).
HP:0004423	Cranium bifidum occultum	Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures.1, 2, 3 Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain.1, 4, 5 Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge.
HP:0004425	Flat forehead	A forehead with abnormal flatness.
HP:0004426	Abnormal cheek morphology	An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface
HP:0004428	Elfin facies	This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
HP:0004429	Recurrent viral infections	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
HP:0004430	Severe combined immunodeficiency	A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
HP:0004431	Complement deficiency	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.
HP:0004432	Agammaglobulinemia	A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.
HP:0004433	Secretory IgA deficiency	Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.
HP:0004434	Decreased circulating complement C8 concentration	Concentration of the complement component C8 in the blood circulation below the lower limit of normal.
HP:0004437	Cranial hyperostosis	Excessive growth of the bones of cranium, i.e., of the skull.
HP:0004438	Hyperostosis frontalis interna	Bony overgrowth of the internal (endosteal) surface of the frontal bone.
HP:0004439	Craniofacial dysostosis	A characteristic appearance resulting from defective ossification of craniofacial bones.
HP:0004440	Coronal craniosynostosis	Premature closure of the coronal suture of skull.
HP:0004442	Sagittal craniosynostosis	A kind of craniosynostosis affecting the sagittal suture.
HP:0004443	Lambdoidal craniosynostosis	A kind of craniosynostosis affecting the lambdoidal suture.
HP:0004444	Spherocytosis	The presence of erythrocytes that are sphere-shaped.
HP:0004445	Elliptocytosis	The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
HP:0004446	Stomatocytosis	The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
HP:0004447	Poikilocytosis	The presence of abnormally shaped erythrocytes.
HP:0004448	Fulminant hepatic failure	Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.
HP:0004450	Preauricular skin furrow	A groove of the skin immediately in front of the ear.
HP:0004451	Postauricular skin tag	A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).
HP:0004452	Abnormality of the middle ear ossicles	An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
HP:0004453	Overfolding of the superior helices	A condition in which the superior portion of the helix is folded over to a greater degree than normal.
HP:0004454	Abnormal middle ear reflexes	
HP:0004458	Dilatated internal auditory canal	The presence of a dilated inner part of external acoustic meatus.
HP:0004459	Exostosis of the external auditory canal	A benign bony growth projecting outward from a bone surface within the external auditory canal.
HP:0004461	Congenital earlobe sinuses	Pits in the earlobes at the location where ears are typically pierced for earrings.
HP:0004463	Absent brainstem auditory responses	Lack of measurable response to stimulation of auditory evoked potentials.
HP:0004464	Postauricular pit	Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
HP:0004466	Prolonged brainstem auditory evoked potentials	
HP:0004467	Preauricular pit	Small indentation anterior to the insertion of the ear.
HP:0004468	Anomalous tracheal cartilage	An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).
HP:0004469	Chronic bronchitis	Chronic inflammation of the bronchi.
HP:0004470	Atretic occipital cephalocele	A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.
HP:0004471	Aplasia cutis congenita over the scalp vertex	A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.
HP:0004472	Mandibular hyperostosis	Hyperostosis (bony overgrowth) of the mandible.
HP:0004474	Persistent open anterior fontanelle	The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
HP:0004476	Aplasia cutis congenita over parietal area	A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.
HP:0004478	Ethmoidal encephalocele	
HP:0004481	Progressive macrocephaly	The progressive development of an abnormally large skull.
HP:0004482	Relative macrocephaly	A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
HP:0004484	Craniofacial asymmetry	Asymmetry of the bones of the skull and the face.
HP:0004485	Cessation of head growth	Stagnation of head growth seen as flattening of the head circumference curve.
HP:0004487	Acrobrachycephaly	An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.
HP:0004488	Macrocephaly at birth	The presence of an abnormally large skull with onset at birth.
HP:0004490	Calvarial hyperostosis	Excessive growth of the calvaria.
HP:0004491	Large posterior fontanelle	An enlargement of the posterior fontanelle relative to age-dependent norms.
HP:0004492	Widely patent fontanelles and sutures	An abnormally increased width of the cranial fontanelles and sutures.
HP:0004493	Craniofacial hyperostosis	Excessive growth of the craniofacial bones.
HP:0004499	Chronic rhinitis due to narrow nasal airway	
HP:0004502	Bilateral choanal atresia	Bilateral absence (atresia) of the posterior nasal aperture (choana).
HP:0004510	Pancreatic islet-cell hyperplasia	Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
HP:0004523	Long eyebrows	Increased length of the hairs of the eyebrows.
HP:0004524	Temporal hypotrichosis	Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).
HP:0004527	Large clumps of pigment irregularly distributed along hair shaft	
HP:0004528	Generalized hypotrichosis	Reduced or lacking hair growth in a generalized distribution.
HP:0004529	Atrophic, patchy alopecia	
HP:0004532	Sacral hypertrichosis	Excessive, increased hair growth located in the sacral region.
HP:0004535	Anterior cervical hypertrichosis	Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.
HP:0004540	Congenital, generalized hypertrichosis	A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
HP:0004552	Scarring alopecia of scalp	
HP:0004554	Generalized hypertrichosis	Generalized excessive, abnormal hairiness.
HP:0004557	Anterior vertebral fusion	
HP:0004558	Cervical platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.
HP:0004562	Beaking of vertebral bodies T12-L3	
HP:0004563	Increased spinal bone density	Increased bone density affecting the bones of the spine (vertebral column).
HP:0004565	Severe platyspondyly	
HP:0004566	Pear-shaped vertebrae	Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.
HP:0004568	Beaking of vertebral bodies	Anterior tongue-like protrusions of the vertebral bodies.
HP:0004570	Increased vertebral height	Increased top to bottom height of vertebral bodies.
HP:0004571	Widening of cervical spinal canal	
HP:0004573	Anterior wedging of T11	An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).
HP:0004575	Fusion of midcervical facet joints	
HP:0004576	Sclerotic vertebral endplates	Sclerosis (increased density) affecting vertebral end plates.
HP:0004580	Anterior scalloping of vertebral bodies	An excessive concavity of the anterior surface of one or more vertebral bodies.
HP:0004581	Increased anterior vertebral height	
HP:0004582	Irregularity of vertebral bodies	
HP:0004586	Biconcave vertebral bodies	Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
HP:0004589	Dysplasia of second lumbar vertebra	
HP:0004590	Hypoplastic sacrum	
HP:0004591	Disc-like vertebral bodies	
HP:0004592	Thoracic platyspondyly	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.
HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	
HP:0004598	Supernumerary vertebral ossification centers	Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.
HP:0004599	Absent or minimally ossified vertebral bodies	
HP:0004601	Spina bifida occulta at L5	The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.
HP:0004602	Cervical C2/C3 vertebral fusion	Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.
HP:0004603	Hyperconvex vertebral body endplates	
HP:0004605	Absent vertebral body mineralization	A lack of bone mineralization of the vertebral bodies.
HP:0004606	Unossified vertebral bodies	A lack of ossification of the vertebral bodies.
HP:0004607	Anterior beaking of lower thoracic vertebrae	Anterior tongue-like protrusions of the lower thoracic vertebral bodies.
HP:0004608	Anteriorly placed odontoid process	Anterior mislocalization of the dens of the axis.
HP:0004609	Patchy distortion of vertebrae	
HP:0004610	Lumbar spinal canal stenosis	An abnormal narrowing of the lumbar spinal canal.
HP:0004611	Anterior concavity of thoracic vertebrae	
HP:0004614	Spina bifida occulta at S1	The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.
HP:0004616	Cleft vertebral arch	A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.
HP:0004617	Butterfly vertebral arch	Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.
HP:0004618	Sandwich appearance of vertebral bodies	
HP:0004619	Lumbar kyphoscoliosis	
HP:0004621	Enlarged vertebral pedicles	Increased size of the vertebral pedicle.
HP:0004622	Progressive intervertebral space narrowing	A progressive form of decreased height of the intervertebral disk.
HP:0004625	Biconvex vertebral bodies	Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.
HP:0004626	Lumbar scoliosis	
HP:0004629	Small cervical vertebral bodies	Reduced size of cervical vertebrae.
HP:0004630	Anterior beaking of thoracic vertebrae	Anterior tongue-like protrusions of thoracic vertebral bodies.
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	
HP:0004632	Cervical segmentation defect	An abnormality related to a defect of vertebral separation of cervical vertebrae during development.
HP:0004633	Lower thoracic kyphosis	Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.
HP:0004634	Cuboid-shaped vertebral bodies	
HP:0004635	Cervical C5/C6 vertebrae fusion	Fusion of the C5 and C6 cervical vertebrae.
HP:0004637	Decreased cervical spine mobility	
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	An elevation of alpha-feto protein measured in the amniotic fluid.
HP:0004646	Hypoplasia of the nasal bone	Underdevelopment of the nasal bone.
HP:0004660	Hypoplasia of facial musculature	Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0004661	Frontalis muscle weakness	Reduced strength of the frontalis muscle (which is located on the forehead).
HP:0004664	Facial midline hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.
HP:0004673	Decreased facial expression	A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
HP:0004676	Prominent supraorbital arches in adult	
HP:0004679	Large tarsal bones	
HP:0004681	Deep longitudinal plantar crease	Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.
HP:0004684	Talipes valgus	Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
HP:0004686	Short third metatarsal	Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.
HP:0004688	Irregular tarsal bones	
HP:0004689	Short fourth metatarsal	Short fourth metatarsal bone.
HP:0004690	Thickened Achilles tendon	An abnormal thickening of the Achilles tendon.
HP:0004691	2-3 toe syndactyly	Syndactyly with fusion of toes two and three.
HP:0004692	4-5 toe syndactyly	Syndactyly with fusion of toes four and five.
HP:0004695	Calcaneal epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.
HP:0004696	Talipes cavus equinovarus	
HP:0004699	Osteoporotic metatarsal	Decrease in mass and density of the metatarsal bones.
HP:0004704	Short fifth metatarsal	Short (hypoplastic) fifth metatarsal bone.
HP:0004712	Renal malrotation	An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.
HP:0004713	Reversible renal failure	Acute renal failure with resolution of manifestations.
HP:0004717	Axial malrotation of the kidney	An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.
HP:0004719	Hyperechogenic kidneys	An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
HP:0004722	Thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.
HP:0004724	Calcium nephrolithiasis	The presence of calcium-containing calculi (stones) in the kidneys.
HP:0004727	Impaired renal concentrating ability	A defect in the ability to concentrate the urine.
HP:0004729	Acute tubulointerstitial nephritis	Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
HP:0004732	Impaired renal uric acid clearance	A reduction in the ability of the kidneys to remove uric acid from the serum.
HP:0004734	Renal cortical microcysts	Cysts of microscopic size confined to the cortex of the kidney.
HP:0004736	Crossed fused renal ectopia	A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.
HP:0004737	Global glomerulosclerosis	Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.
HP:0004742	Abnormal renal collecting system morphology	An abnormality of the renal collecting system.
HP:0004743	Chronic tubulointerstitial nephritis	Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
HP:0004746	Glomerular subendothelial electron-dense deposits	Electron dense deposits at the glomerular basement membrane,
HP:0004749	Atrial flutter	A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
HP:0004751	Paroxysmal ventricular tachycardia	Episodes of ventricular tachycardia that have a sudden onset and ending.
HP:0004752	Congenital atrioventricular dissociation	A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.
HP:0004754	Permanent atrial fibrillation	Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
HP:0004755	Supraventricular tachycardia	Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
HP:0004756	Ventricular tachycardia	A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
HP:0004757	Paroxysmal atrial fibrillation	Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
HP:0004758	Effort-induced polymorphic ventricular tachycardia	Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.
HP:0004761	Post-angioplasty coronary artery restenosis	
HP:0004762	Hypoplasia of right ventricle	Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
HP:0004763	Paroxysmal supraventricular tachycardia	An episodic form of supraventricular tachycardia with abrupt onset and termination.
HP:0004764	Myxomatous mitral valve degeneration	Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.
HP:0004768	Sparse anterior scalp hair	Decreased number of head hairs per unit area on the anterior region of the scalp.
HP:0004771	Premature graying of body hair	
HP:0004779	Brittle scalp hair	Fragile, easily breakable scalp hair.
HP:0004780	Elbow hypertrichosis	Excessive, increased hair growth located in the elbow region.
HP:0004783	Duodenal polyposis	Presence of multiple polyps in the duodenum.
HP:0004784	Juvenile gastrointestinal polyposis	The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.
HP:0004785	Malrotation of colon	An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.
HP:0004786	Jejunal diverticula	
HP:0004787	Fulminant hepatitis	Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.
HP:0004788	Intestinal lymphedema	Fluid retention and edema in the intestine caused by a compromised lymphatic system.
HP:0004789	Lactose intolerance	An inability to digest lactose.
HP:0004790	Hypoplasia of the small intestine	Underdevelopment of the small intestine.
HP:0004791	Esophageal ulceration	Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
HP:0004792	Rectoperineal fistula	The presence of a fistula between the perineum and the rectum.
HP:0004794	Malrotation of small bowel	A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.
HP:0004795	Hamartomatous stomach polyps	Polyp-like protrusions which are histologically hamartomas located in the stomach.
HP:0004796	Gastrointestinal obstruction	
HP:0004797	Multiple small bowel atresias	The presence of multiple areas of atresia affecting the small intestine.
HP:0004798	Recurrent infection of the gastrointestinal tract	Recurrent infection of the gastrointestinal tract.
HP:0004799	Jejunoileal diverticula	
HP:0004800	Duodenal diverticula	
HP:0004802	Episodic hemolytic anemia	A form of hemolytic anemia that occurs in repeated episodes.
HP:0004804	Congenital hemolytic anemia	A form of hemolytic anemia with congenital onset.
HP:0004808	Acute myeloid leukemia	A form of leukemia characterized by overproduction of an early myeloid cell.
HP:0004809	Neonatal alloimmune thrombocytopenia	Low platelet count associated with maternal platelet-specific alloantibodies.
HP:0004810	Congenital hypoplastic anemia	A type of hypoplastic anemia with congenital onset.
HP:0004812	B Acute Lymphoblastic Leukemia	A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
HP:0004813	Post-transfusion thrombocytopenia	Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.
HP:0004814	Fava bean-induced hemolytic anemia	A kind of hemolytic anemia that is induced by the ingestion of fava beans.
HP:0004817	Drug-sensitive hemolytic anemia	A form of hemolytic anemia that is triggered by ingestion of certain drugs.
HP:0004818	Paroxysmal nocturnal hemoglobinuria	
HP:0004819	Normocytic hypoplastic anemia	A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).
HP:0004820	Acute myelomonocytic leukemia	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.
HP:0004821	Hypersegmentation of neutrophil nuclei	An excessive division of the lobes of the nucleus of a neutrophil.
HP:0004822	Atypical elliptocytosis	
HP:0004823	Anisopoikilocytosis	A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.
HP:0004825	Increased hemoglobin oxygen affinity	An abnormal increase in the binding affinity of hemoglobin for oxygen.
HP:0004826	Folate-unresponsive megaloblastic anemia	A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.
HP:0004828	Refractory anemia with ringed sideroblasts	A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.
HP:0004831	Recurrent thromboembolism	Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.
HP:0004835	Microspherocytosis	The presence of erythrocytes that are sphere-shaped and reduced in size.
HP:0004836	Acute promyelocytic leukemia	A type of acute myeloid leukemia in which abnormal promyelocytes predominate.
HP:0004839	Pyropoikilocytosis	A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.
HP:0004840	Hypochromic microcytic anemia	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
HP:0004841	Reduced factor XII activity	Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.
HP:0004844	Coombs-positive hemolytic anemia	A type of hemolytic anemia in which the Coombs test is positive.
HP:0004845	Acute monocytic leukemia	The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.
HP:0004846	Prolonged bleeding after surgery	Bleeding that persists longer than the normal time following a surgical procedure.
HP:0004848	Ph-positive acute lymphoblastic leukemia	A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.
HP:0004850	Recurrent deep vein thrombosis	Repeated episodes of the formation of a blot clot in a deep vein.
HP:0004851	Folate-responsive megaloblastic anemia	A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.
HP:0004852	Reduced leukocyte alkaline phosphatase	Decreased alkaline phosphatase measured within leukocytes.
HP:0004854	Intermittent thrombocytopenia	Reduced platelet count that occurs sporadically, i.e., it comes and goes.
HP:0004855	Reduced protein S activity	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.
HP:0004856	Normochromic microcytic anemia	A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
HP:0004857	Hyperchromic macrocytic anemia	A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.
HP:0004859	Amegakaryocytic thrombocytopenia	Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
HP:0004860	Thiamine-responsive megaloblastic anemia	A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.
HP:0004861	Refractory macrocytic anemia	
HP:0004863	Compensated hemolytic anemia	
HP:0004864	Refractory sideroblastic anemia	A type of sideroblastic anemia that is not responsive to treatment.
HP:0004866	Impaired ADP-induced platelet aggregation	Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
HP:0004870	Chronic hemolytic anemia	An chronic form of hemolytic anemia.
HP:0004871	Perineal fistula	The presence of a fistula between the bowel and the perineum.
HP:0004872	Incisional hernia	An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
HP:0004875	Neonatal inspiratory stridor	
HP:0004876	Spontaneous neonatal pneumothorax	Pneumothorax occurring neonatally without traumatic injury to the chest or lung.
HP:0004878	Intercostal muscle weakness	Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.
HP:0004879	Intermittent hyperventilation	Episodic hyperventilation.
HP:0004880	Respiratory infections in early life	Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.
HP:0004881	Episodic hypoventilation	
HP:0004885	Episodic respiratory distress	
HP:0004886	Congenital laryngeal stridor	
HP:0004887	Respiratory failure requiring assisted ventilation	A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	
HP:0004890	Elevated pulmonary artery pressure	An abnormally elevated blood pressure in the circulation of the pulmonary artery.
HP:0004891	Recurrent infections due to aspiration	Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.
HP:0004894	Laryngotracheal stenosis	
HP:0004897	Stress/infection-induced lactic acidosis	A form of lactic acidemia that occurs in relation to stress or infection.
HP:0004898	Persistent lactic acidosis	A continuous form of lactic acidemia.
HP:0004900	Severe lactic acidosis	A severe form of lactic acidemia.
HP:0004901	Exercise-induced lactic acidemia	A form of lactic acidemia that occurs following exercise or exertion.
HP:0004902	Congenital lactic acidosis	A form of lactic acidemia with congenital onset.
HP:0004904	Maturity-onset diabetes of the young	The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.
HP:0004905	Low levels of vitamin A	A reduced concentration of vitamin A.
HP:0004906	Hypernatremic dehydration	
HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	
HP:0004910	Bicarbonate-wasting renal tubular acidosis	
HP:0004911	Episodic metabolic acidosis	Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.
HP:0004912	Hypophosphatemic rickets	
HP:0004913	Intermittent lactic acidemia	An intermittent (discontinuous) form of lactic acidemia.
HP:0004914	Recurrent infantile hypoglycemia	Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.
HP:0004915	Impairment of galactose metabolism	An impairment of galactose metabolism.
HP:0004916	Generalized distal tubular acidosis	
HP:0004918	Hyperchloremic metabolic acidosis	A form of metabolic acidosis with increased serum chloride levels.
HP:0004919	Galactose intolerance	
HP:0004920	Phenylpyruvic acidemia	
HP:0004921	Abnormal magnesium concentration	An abnormality of magnesium ion homeostasis.
HP:0004922	Atypical hyperphenylalaninemia	
HP:0004923	Hyperphenylalaninemia	An increased concentration of L-phenylalanine in the blood.
HP:0004924	Abnormal oral glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
HP:0004925	Chronic lactic acidosis	A chronic form of lactic acidemia.
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	
HP:0004927	Pulmonary artery dilatation	An abnormal widening of the diameter of the pulmonary artery.
HP:0004930	Abnormality of the pulmonary vasculature	
HP:0004931	Arteriosclerosis of small cerebral arteries	Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
HP:0004933	Ascending aortic dissection	A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
HP:0004934	Vascular calcification	Abnormal calcification of the vasculature.
HP:0004935	Pulmonary artery atresia	A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0004936	Venous thrombosis	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
HP:0004937	Pulmonary artery aneurysm	An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.
HP:0004938	Tortuous cerebral arteries	Excessive bending, twisting, and winding of a cerebral artery.
HP:0004940	Generalized arterial calcification	Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.
HP:0004941	Extrahepatic portal hypertension	Increased pressure in the pre-hepatic portal vein.
HP:0004942	Aortic aneurysm	Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
HP:0004943	Accelerated atherosclerosis	Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.
HP:0004944	Dilatation of the cerebral artery	The presence of a localized dilatation or ballooning of a cerebral artery.
HP:0004945	Extracranial internal carotid artery dissection	A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.
HP:0004947	Arteriovenous fistula	An abnormal connection between an artery and vein.
HP:0004948	Vascular tortuosity	Abnormal twisting of arteries or veins.
HP:0004950	Peripheral arterial stenosis	Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.
HP:0004952	Pulmonary arteriovenous fistulas	A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.
HP:0004955	Generalized arterial tortuosity	Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.
HP:0004959	Descending thoracic aorta aneurysm	An abnormal localized widening (dilatation) of the descending thoracic aorta.
HP:0004960	Absent pulmonary artery	A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.
HP:0004961	Pulmonary artery sling	An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.
HP:0004962	Thoracic aorta calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.
HP:0004963	Calcification of the aorta	Calcification, that is, pathological deposition of calcium salts in the aorta.
HP:0004964	Pulmonary arterial medial hypertrophy	Increase in mass of the tunica media of the arteries in the pulmonary circulation.
HP:0004966	Medial calcification of large arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.
HP:0004968	Recurrent cerebral hemorrhage	Recurrent bleeding into the parenchyma of the brain.
HP:0004969	Peripheral pulmonary artery stenosis	Stenosis of a peripheral branch of the pulmonary artery.
HP:0004970	Ascending tubular aorta aneurysm	An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
HP:0004971	Pulmonary artery hypoplasia	Underdevelopment of the pulmonary artery.
HP:0004972	Elevated mean arterial pressure	An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.
HP:0004974	Coarctation of abdominal aorta	Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.
HP:0004975	Erlenmeyer flask deformity of the femurs	Flaring of distal femur.
HP:0004976	Knee dislocation	
HP:0004977	Bilateral radial aplasia	Missing radius bone on both sides associated with congenital failure of development.
HP:0004979	Metaphyseal sclerosis	Abnormally increased density of metaphyseal bone.
HP:0004980	Metaphyseal rarefaction	Reduction in density of metaphyseal bony tissue.
HP:0004981	Prominent styloid process of ulna	
HP:0004987	Mesomelic leg shortening	Shortening of the middle parts of the leg in relation to the upper and terminal segments.
HP:0004990	Epiphyseal streaking	
HP:0004991	Rhizomelic arm shortening	Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
HP:0004993	Slender long bones with narrow diaphyses	Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.
HP:0004997	Multicentric ossification of proximal humeral epiphyses	
HP:0005001	Recurrent patellar dislocation	Patellar dislocation occurring repeated times.
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	Absence or underdevelopment of the proximal epiphysis of the femur.
HP:0005004	Flattened proximal radial epiphyses	An abnormally flat form of the proximal epiphysis of the radius.
HP:0005005	Femoral bowing present at birth, straightening with time	Congenital onset bending or abnormal curvature of the femur that normalizes with age.
HP:0005008	Large joint dislocations	
HP:0005009	Dumbbell-shaped humerus	The humerus is shortened and displays flaring (widening) of the metaphyses.
HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	
HP:0005011	Mesomelic arm shortening	Shortening of the middle parts of the arm in relation to the upper and terminal segments.
HP:0005013	Dysplastic distal radial epiphyses	Abnormally developed (dysplastic) distal epiphysis of the radius.
HP:0005017	Polyarticular chondrocalcinosis	
HP:0005019	Diaphyseal thickening	
HP:0005021	Bilateral elbow dislocations	
HP:0005025	Hypoplastic distal humeri	Underdevelopment of the distal portion of the humerus.
HP:0005026	Mesomelic/rhizomelic limb shortening	
HP:0005028	Widened proximal tibial metaphyses	
HP:0005033	Distal ulnar hypoplasia	Underdevelopment of the distal portion of the ulna.
HP:0005035	Shortening of all phalanges of the toes	Developmental hypoplasia (shortening) of all phalanges of the foot.
HP:0005036	Unilateral ulnar hypoplasia	Underdevelopment of the ulna on only one side.
HP:0005037	Proximal radio-ulnar synostosis	An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.
HP:0005039	Multiple long-bone exostoses	Multiple exostoses originating in long bones.
HP:0005041	Irregular capital femoral epiphysis	Irregular surface of the normally relatively smooth capital femoral epiphysis.
HP:0005042	Irregular, rachitic-like metaphyses	
HP:0005043	Proximal humeral metaphyseal irregularity	Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).
HP:0005045	Diaphyseal cortical sclerosis	An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0005048	Synostosis of carpal bones	
HP:0005050	Anterolateral radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.
HP:0005054	Metaphyseal spurs	Bony outgrowths that extend laterally from the margin of the metaphysis.
HP:0005059	Arthralgia/arthritis	
HP:0005060	Limited elbow flexion/extension	
HP:0005063	Fragmented, irregular epiphyses	
HP:0005066	Cone-shaped epiphyses fused within their metaphyses	
HP:0005067	Proximal fibular overgrowth	Overgrowth of the proximal part of the fibula.
HP:0005068	Absent styloid process of ulna	
HP:0005069	Rhizo-meso-acromelic limb shortening	
HP:0005070	Proximal radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.
HP:0005072	Hyperextensibility at wrists	The ability of the wrist joints to move beyond their normal range of motion.
HP:0005084	Anterior radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.
HP:0005085	Limited knee flexion/extension	A limited ability of the knee joint to perform extension and flexion.
HP:0005086	Knee osteoarthritis	
HP:0005089	Abnormal metaphyseal trabeculation	An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.
HP:0005090	Lateral femoral bowing	A lateral bending or abnormal curvature of the femur.
HP:0005092	Streaky metaphyseal sclerosis	The presence of streaks (bands) of abnormally increased density of metaphyseal bone.
HP:0005093	Absent proximal radial epiphyses	Absence of the proximal radial epiphysis.
HP:0005096	Distal femoral bowing	A bending or abnormal curvature of the distal portion of the femur.
HP:0005100	Premature birth following premature rupture of fetal membranes	
HP:0005101	High-frequency hearing impairment	A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
HP:0005102	Cochlear degeneration	Deterioration or loss of the tissues of the cochlea.
HP:0005103	Calcification of the auricular cartilage	Ossification affecting the external ear cartilage.
HP:0005104	Hypoplastic nasal septum	Underdevelopment of the nasal septum.
HP:0005105	Abnormal nasal morphology	
HP:0005106	Abnormality of the vertebral endplates	Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.
HP:0005107	Abnormal sacrum morphology	An abnormality of the sacral bone.
HP:0005108	Abnormal intervertebral disk morphology	Any structural abnormality of the intervertebral disk.
HP:0005109	Abnormality of the Achilles tendon	An abnormality of the Achilles tendon.
HP:0005110	Atrial fibrillation	An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
HP:0005112	Abdominal aortic aneurysm	An abnormal localized widening (dilatation) of the abdominal aorta.
HP:0005113	Aortic arch aneurysm	An abnormal localized widening (dilatation) of the aortic arch.
HP:0005115	Supraventricular arrhythmia	A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.
HP:0005116	Arterial tortuosity	Abnormal tortuous (i.e., twisted) form of arteries.
HP:0005117	Elevated diastolic blood pressure	Abnormal increase in diastolic blood pressure.
HP:0005120	Abnormal cardiac atrium morphology	Any structural abnormality of a cardiac atrium.
HP:0005121	Posterior scalloping of vertebral bodies	An excessive concavity of the posterior surface of one or more vertebral bodies.
HP:0005129	Congenital hypertrophy of left ventricle	
HP:0005132	Pericardial constriction	Compression of the heart caused by rigid, thickened, or fused pericardial membranes.
HP:0005133	Right ventricular dilatation	Enlargement of the chamber of the right ventricle.
HP:0005134	Absence of the pulmonary valve	Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.
HP:0005135	Abnormal T-wave	An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.
HP:0005136	Mitral annular calcification	Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.
HP:0005143	Anomalous origin of right pulmonary artery from ascending aorta	The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.
HP:0005144	Ventricular septal hypertrophy	The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
HP:0005145	Coronary artery stenosis	Abnormal narrowing of the coronary artery.
HP:0005146	Cardiac valve calcification	Abnormal calcification of a cardiac valve.
HP:0005147	Bidirectional ventricular ectopy	
HP:0005148	Pulmonary valve defects	Any defect in the valve connecting the heart and the pulmonary artery.
HP:0005150	Abnormal atrioventricular conduction	An impairment of the electrical continuity between the atria and ventricles.
HP:0005151	Preductal coarctation of the aorta	Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
HP:0005152	Histiocytoid cardiomyopathy	A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.
HP:0005155	Ventricular escape rhythm	A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).
HP:0005156	Hypoplastic left atrium	Underdeveloped, small left heart atrium
HP:0005157	Concentric hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
HP:0005160	Total anomalous pulmonary venous return	Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.
HP:0005162	Abnormal left ventricular function	Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.
HP:0005164	Dysplastic pulmonary valve	A congenital malformation of the pulmonary valve characterized by leaflet deformation.
HP:0005165	Shortened PR interval	Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.
HP:0005168	Elevated right atrial pressure	An abnormal increase in magnitude of the pressure in the right atrium.
HP:0005170	Complete heart block with broad QRS complexes	A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.
HP:0005172	Left posterior fascicular block	Conduction block in the posterior division of the left bundle branch of the bundle of His.
HP:0005174	Membranous subvalvular aortic stenosis	Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.
HP:0005176	Dysplastic aortic valve	A congenital malformation of the aortic valve characterized by leaflet deformation.
HP:0005177	Premature arteriosclerosis	Arteriosclerosis occurring at an age that is younger than usual.
HP:0005178	Complete heart block with narrow QRS complexes	A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.
HP:0005180	Tricuspid regurgitation	Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
HP:0005181	Premature coronary artery atherosclerosis	Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
HP:0005182	Bicuspid pulmonary valve	The presence of a bicuspid pulmonary valve.
HP:0005183	Pericardial lymphangiectasia	An abnormal dilatation of lymph vessels in the pericardium.
HP:0005184	Prolonged QTc interval	A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
HP:0005185	Global systolic dysfunction	A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.
HP:0005186	Synovial hypertrophy	
HP:0005187	Progressive joint destruction	
HP:0005190	Proximal finger joint hyperextensibility	
HP:0005191	Congenital knee dislocation	
HP:0005193	Restricted large joint movement	
HP:0005194	Flattened metatarsal heads	Abnormally flat shape of the heads of the metatarsal bones.
HP:0005195	Polyarticular arthropathy	
HP:0005197	Generalized morning stiffness	A sensation of stiffness in the joints that occurs following waking up in the morning.
HP:0005198	Stiff interphalangeal joints	Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.
HP:0005199	Aplasia of the abdominal wall musculature	Absence of the abdominal musculature.
HP:0005200	Retroperitoneal fibrosis	
HP:0005201	Anomalous splenoportal venous system	
HP:0005202	Helicobacter pylori infection	A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.
HP:0005203	Spontaneous esophageal perforation	The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.
HP:0005206	Pancreatic pseudocyst	Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.
HP:0005207	Gastric hypertrophy	Hypertrophy of the stomach.
HP:0005208	Secretory diarrhea	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
HP:0005209	Intrahepatic bile duct cysts	The presence of cyst of the intrahepatic bile duct.
HP:0005210	Hypoplastic colon	Underdevelopment of the colon.
HP:0005211	Midgut malrotation	
HP:0005212	Anal mucosal leukoplakia	Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.
HP:0005213	Pancreatic calcification	The presence of abnormal calcium deposition lesions in the pancreas.
HP:0005214	Intestinal obstruction	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
HP:0005215	Frequent Giardia lamblia infestation	Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.
HP:0005216	Impaired mastication	An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.
HP:0005217	Duplication of internal organs	
HP:0005218	Anoperineal fistula	The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.
HP:0005219	Absence of intrinsic factor	Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.
HP:0005220	Multiple intestinal neurofibromatosis	
HP:0005222	Bowel diverticulosis	The presence of multiple diverticula of the intestine.
HP:0005223	Duplicated colon	
HP:0005224	Rectal abscess	A collection of pus in the area of the rectum.
HP:0005225	Intestinal edema	Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.
HP:0005227	Adenomatous colonic polyposis	Presence of multiple adenomatous polyps in the colon.
HP:0005229	Jejunoileal ulceration	
HP:0005230	Biliary tract obstruction	Obstruction affecting the biliary tree.
HP:0005231	Chronic gastritis	A chronic form of gastritis.
HP:0005232	Pancreatic dysplasia	The presence of developmental dysplasia of the pancreas.
HP:0005233	Hypoplasia of the gallbladder	The presence of a hypoplastic gallbladder.
HP:0005234	Neonatal intestinal obstruction	
HP:0005235	Jejunal atresia	A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.
HP:0005236	Chronic calcifying pancreatitis	A form of chronic pancreatitis that is characterized by calcification.
HP:0005237	Degenerative liver disease	The presence of degenerative changes of the liver.
HP:0005238	Discrete intestinal polyps	
HP:0005240	Esophageal obstruction	
HP:0005241	Total intestinal aganglionosis	A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
HP:0005242	Extrahepatic biliary duct atresia	Atresia in the extrahepatic bile duct.
HP:0005243	Partial abdominal muscle agenesis	Failure to form of portions of the abdominal musculature.
HP:0005244	Gastrointestinal infarctions	
HP:0005245	Intestinal hypoplasia	Developmental hypoplasia of the intestine.
HP:0005246	Giant hypertrophic gastritis	A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.
HP:0005247	Hypoplasia of the abdominal wall musculature	Underdevelopment of the abdominal musculature.
HP:0005248	Intrahepatic biliary atresia	Atresia in the intrahepatic bile duct.
HP:0005249	Functional intestinal obstruction	
HP:0005250	High intestinal obstruction	
HP:0005253	Increased anterioposterior diameter of thorax	
HP:0005254	Unilateral chest hypoplasia	
HP:0005255	Absence of pectoralis minor muscle	Aplasia (congenital absence) of the pectoralis minor.
HP:0005256	Unilateral absence of pectoralis major muscle	Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.
HP:0005257	Thoracic hypoplasia	
HP:0005258	Pectoral muscle hypoplasia/aplasia	
HP:0005259	Abnormal facility in opposing the shoulders	Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.
HP:0005261	Joint hemorrhage	Hemorrhage occurring within a joint.
HP:0005262	Abnormality of the synovia	
HP:0005263	Gastritis	The presence of inflammation of the gastric mucous membrane.
HP:0005264	Abnormality of the gallbladder	An abnormality of the gallbladder.
HP:0005265	Abnormal jejunum morphology	An abnormality of the jejunum, i.e., of the middle section of the small intestine.
HP:0005266	Intestinal polyp	A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.
HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	
HP:0005268	Miscarriage	A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.
HP:0005272	Prominent nasolabial fold	Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
HP:0005273	Absent nasal septal cartilage	Lack of the cartilage of the nasal septum.
HP:0005274	Prominent nasal tip	
HP:0005275	Cartilaginous ossification of nose	
HP:0005278	Hypoplastic nasal tip	
HP:0005280	Depressed nasal bridge	Posterior positioning of the nasal root in relation to the overall facial profile for age.
HP:0005281	Hypoplastic nasal bridge	
HP:0005285	Absent nasal bridge	
HP:0005288	Abnormal nostril morphology	Abnormality of the nostril.
HP:0005289	Abnormality of the nasolabial region	
HP:0005290	Internal carotid artery hypoplasia	
HP:0005291	Inflammatory arteriopathy	
HP:0005292	Intimal thickening in the coronary arteries	
HP:0005293	Venous insufficiency	
HP:0005294	Arterial dissection	A separation (dissection) of the layers of an artery.
HP:0005295	Pseudocoarctation of the aorta	Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.
HP:0005297	Premature occlusive vascular stenosis	Peripheral arterial stenosis with onset before the age of 50 years.
HP:0005300	Nodular inflammatory vasculitis	
HP:0005301	Persistent left superior vena cava	A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
HP:0005302	Carotid artery tortuosity	Abnormal tortuous (i.e., twisted) form of the carotid arteries.
HP:0005303	Aortic arch calcification	Calcification, that is, pathological deposition of calcium salts in the arch of aorta.
HP:0005304	Hypoplastic pulmonary veins	
HP:0005305	Cerebral venous thrombosis	Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
HP:0005306	Capillary hemangioma	The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.
HP:0005307	Postural hypotension with compensatory tachycardia	
HP:0005308	Pulmonary artery vasoconstriction	
HP:0005310	Large vessel vasculitis	A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.
HP:0005311	Agenesis of pulmonary vessels	A developmental defect characterized by the lack of formation of the pulmonary blood vessels.
HP:0005312	Pulmonary aterial intimal fibrosis	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.
HP:0005313	Arterial fibromuscular dysplasia	An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.
HP:0005314	Anomalous branches of internal carotid artery	
HP:0005316	Peripheral pulmonary vessel aplasia	
HP:0005317	Increased pulmonary vascular resistance	Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.
HP:0005318	Cerebral vasculitis	Inflammation of the blood vessels within the brain.
HP:0005320	Lack of facial subcutaneous fat	
HP:0005321	Mandibulofacial dysostosis	A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.
HP:0005322	Prominent nasal septum	
HP:0005323	Hemifacial hypertrophy	Unilateral overgrowth of facial tissues, including muscles, bones and skin.
HP:0005324	Disturbance of facial expression	An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.
HP:0005325	Extension of hair growth on temples to lateral eyebrow	A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.
HP:0005326	Hypoplastic philtrum	Underdevelopment of the philtrum.
HP:0005327	Loss of facial expression	
HP:0005328	Progeroid facial appearance	A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
HP:0005329	Fixed facial expression	
HP:0005332	Recurrent mandibular subluxations	Recurrent partial dislocations of the mandible.
HP:0005335	Sleepy facial expression	
HP:0005336	Forehead hyperpigmentation	
HP:0005338	Sparse lateral eyebrow	Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
HP:0005339	Abnormality of complement system	An abnormality of the complement system.
HP:0005340	Spastic/hyperactive bladder	
HP:0005341	Autonomic bladder dysfunction	Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.
HP:0005343	Hypoplasia of the bladder	Underdevelopment of the urinary bladder.
HP:0005344	Abnormal carotid artery morphology	Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.
HP:0005345	Abnormal vena cava morphology	An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.
HP:0005346	Abnormal facial expression	
HP:0005347	Tracheal cartilaginous sleeve	Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.
HP:0005348	Inspiratory stridor	Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.
HP:0005349	Hypoplasia of the epiglottis	Hypoplasia of the epiglottis.
HP:0005352	Severe T-cell immunodeficiency	A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.
HP:0005353	Recurrent herpes	Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
HP:0005354	Lack of T cell function	Complete inability of T cells to perform their functions in cell-mediated immunity.
HP:0005356	Decreased circulating complement factor I concentration	Concentration of the complement component factor I in the blood circulation below the lower limit of normal.
HP:0005357	Defective B cell differentiation	Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
HP:0005359	Aplasia of the thymus	Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.
HP:0005360	Susceptibility to chickenpox	Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.
HP:0005363	Humoral immunodeficiency	A general term referring to a defect in immunity resulting from impaired antibody production.
HP:0005365	Severe B lymphocytopenia	A severe form of B lymphocytopenia in which the count of B cells is very low or absent.
HP:0005366	Recurrent streptococcus pneumoniae infections	Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.
HP:0005368	Abnormality of humoral immunity	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.
HP:0005369	Decreased circulating complement factor H concentration	Concentration of the complement component factor H in the blood circulation below the lower limit of normal.
HP:0005372	Abnormality of B cell physiology	An abnormality of the physiological functioning of B cells.
HP:0005374	Cellular immunodeficiency	An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.
HP:0005376	Recurrent Haemophilus influenzae infections	Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.
HP:0005381	Recurrent meningococcal disease	Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.
HP:0005384	Defective B cell activation	A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of
HP:0005386	Recurrent protozoan infections	Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.
HP:0005387	Combined immunodeficiency	A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
HP:0005389	Depletion of components of the alternative complement pathway	An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.
HP:0005390	Recurrent opportunistic infections	Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.
HP:0005396	Susceptibility to coronavirus 229e	Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.
HP:0005400	Reduction of neutrophil motility	An abnormal reduction of the cell motility of neutrophils.
HP:0005401	Recurrent candida infections	An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
HP:0005403	T lymphocytopenia	An abnormally low count of T cells.
HP:0005404	Increased B cell count	An abnormal increase from the normal count of B cells.
HP:0005406	Recurrent bacterial skin infections	Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.
HP:0005407	Decreased proportion of CD4-positive helper T cells	A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
HP:0005411	Chronic intestinal candidiasis	Persistent overgrowth of Candida albicans in the gastrointestinal tract.
HP:0005413	Increased alpha-globulin	An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.
HP:0005415	Decreased proportion of CD8-positive T cells	A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
HP:0005416	Decreased circulating complement factor B concentration	Concentration of the complement component factor B in the blood circulation below the lower limit of normal.
HP:0005419	Decreased T cell activation	Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
HP:0005420	Recurrent gram-negative bacterial infections	Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.
HP:0005421	Decreased circulating complement C3 concentration	Concentration of the complement component C3 in the blood circulation below the lower limit of normal.
HP:0005422	Absence of CD8-positive T cells	Lack of detectible CD8-positive T cells
HP:0005423	Dysfunctional alternative complement pathway	An abnormality of the functioning of any aspect of the alternative complement pathway.
HP:0005424	Absent specific antibody response	Absence of specific immunoglobulins directed against a specific antigen or microorganism.
HP:0005425	Recurrent sinopulmonary infections	An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
HP:0005428	Severe recurrent varicella	
HP:0005429	Recurrent systemic pyogenic infections	Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.
HP:0005430	Recurrent Neisserial infections	Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).
HP:0005432	Transient hypogammaglobulinemia of infancy	At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.
HP:0005435	Impaired T cell function	Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0005437	Recurrent infections in infancy and early childhood	Recurrent infections at an early age with improvement in later childhood.
HP:0005439	Maxillozygomatic hypoplasia	Hypoplasia of the maxillozygomatic complex.
HP:0005441	Sclerotic cranial sutures	An increased density in the cranial sutures following obliteration.
HP:0005442	Widely patent coronal suture	The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.
HP:0005445	Enlarged posterior fossa	Abnormal increased size of the posterior cranial fossa.
HP:0005446	Obtuse angle of mandible	Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.
HP:0005449	Bridged sella turcica	
HP:0005450	Calvarial osteosclerosis	An increase in bone density affecting the calvaria (roof of the skull).
HP:0005451	Decreased cranial base ossification	
HP:0005453	Absent/hypoplastic paranasal sinuses	Aplasia or hypoplasia of the paranasal sinuses.
HP:0005456	Absent ethmoidal sinuses	Lack (aplasia) of the ethmoidal sinus.
HP:0005458	Premature closure of fontanelles	Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.
HP:0005461	Craniofacial disproportion	
HP:0005462	Calcification of falx cerebri	The presence of calcium deposition in the falx cerebri.
HP:0005463	Elongated sella turcica	
HP:0005464	Craniofacial osteosclerosis	Abnormally increased density of craniofacial bone tissue.
HP:0005465	Facial hyperostosis	Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.
HP:0005466	Hypoplasia of the frontal bone	Underdevelopment of the frontal bone.
HP:0005469	Flat occiput	Reduced convexity of the occiput (posterior part of skull).
HP:0005472	Orbital craniosynostosis	
HP:0005473	Fusion of middle ear ossicles	Bony fusion of malleus, incus, and stapes.
HP:0005474	Decreased calvarial ossification	Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
HP:0005476	Widely patent sagittal suture	The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.
HP:0005477	Progressive sclerosis of skull base	Progressively increasing bone density of the skull base without significant changes in bony contour.
HP:0005478	Prominent frontal sinuses	
HP:0005479	Decreased circulating IgE	An abnormally decreased level of immunoglobulin E (IgE) in blood.
HP:0005482	Abnormality of the alternative complement pathway	A deviation in any aspect of the alternative complement pathway.
HP:0005483	Abnormal epiglottis morphology	An abnormality of the epiglottis.
HP:0005484	Secondary microcephaly	Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
HP:0005486	Small fontanelle	A fontanelle that is small for age.
HP:0005487	Prominent metopic ridge	Vertical bony ridge positioned in the midline of the forehead.
HP:0005490	Postnatal macrocephaly	The postnatal development of an abnormally large skull (macrocephaly).
HP:0005494	Premature posterior fontanelle closure	
HP:0005495	Metopic suture patent to nasal root	The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.
HP:0005498	Midline skin dimples over anterior/posterior fontanelles	
HP:0005502	Increased red cell osmotic fragility	
HP:0005505	Refractory anemia	
HP:0005506	Chronic myelogenous leukemia	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.
HP:0005507	Hemoglobin Barts	Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.
HP:0005508	Monoclonal immunoglobulin M proteinemia	Presence of a monoclonal immunoglobulin M protein in the serum.
HP:0005510	Transient erythroblastopenia	A transient reduction in the number of erythroblasts in the circulation.
HP:0005511	Heinz body anemia	Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.
HP:0005512	Impaired neutrophil killing of staphylococci	A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.
HP:0005513	Increased megakaryocyte count	Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.
HP:0005517	T-cell lymphoma/leukemia	A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.
HP:0005518	Increased mean corpuscular volume	Larger than normal size of erythrocytes.
HP:0005520	Chronic disseminated intravascular coagulation	A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.
HP:0005521	Disseminated intravascular coagulation	Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.
HP:0005522	Pyridoxine-responsive sideroblastic anemia	A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.
HP:0005523	Lymphoproliferative disorder	
HP:0005524	Macrocytic hemolytic disease	
HP:0005525	Spontaneous hemolytic crises	
HP:0005526	Lymphoid leukemia	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.
HP:0005527	Reduced kininogen activity	Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.
HP:0005528	Bone marrow hypocellularity	A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
HP:0005531	Biphenotypic acute leukemia	A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.
HP:0005532	Macrocytic dyserythropoietic anemia	
HP:0005534	Transient myeloproliferative syndrome	A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.
HP:0005535	Exercise-induced hemolysis	A form of hemolytic anemia that can be triggered by exertion.
HP:0005537	Decreased mean platelet volume	Average platelet volume below the lower limit of the normal reference interval.
HP:0005539	T cell chronic lymphocytic lymphoma/leukemia	A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.
HP:0005540	Red blood cell keratocytosis	A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.
HP:0005541	Congenital agranulocytosis	Congenital onset of a marked decrease in the number of granulocytes.
HP:0005542	Prolonged whole-blood clotting time	An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.
HP:0005543	Reduced protein C activity	An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.
HP:0005546	Increased red cell osmotic resistance	
HP:0005547	Myeloproliferative disorder	Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
HP:0005548	Megakaryocytopenia	A reduced count of megakaryocytes.
HP:0005550	Chronic lymphatic leukemia	A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.
HP:0005556	Abnormality of the metopic suture	The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".
HP:0005557	Abnormal zygomatic arch morphology	An abnormality of the zygomatic arch, also known as the cheek bone.
HP:0005558	Chronic leukemia	A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.
HP:0005559	Abnormality of the kinin-kallikrein system	
HP:0005560	Imbalanced hemoglobin synthesis	Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.
HP:0005561	Abnormality of bone marrow cell morphology	An anomaly of the form or number of cells in the bone marrow.
HP:0005562	Multiple renal cysts	The presence of many cysts in the kidney.
HP:0005563	Decreased numbers of nephrons	A reduction in the count of nephrons per kidney.
HP:0005564	Absence of renal corticomedullary differentiation	A lack of differentiation between renal cortex and medulla on diagnostic imaging.
HP:0005565	Reduced renal corticomedullary differentiation	Reduced differentiation between renal cortex and medulla on diagnostic imaging.
HP:0005567	Renal magnesium wasting	High urine magnesium in the presence of hypomagnesemia.
HP:0005571	Increased renal tubular phosphate reabsorption	
HP:0005572	Decreased renal tubular phosphate excretion	
HP:0005574	Non-acidotic proximal tubulopathy	A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.
HP:0005575	Hemolytic-uremic syndrome	A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.
HP:0005576	Tubulointerstitial fibrosis	A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.
HP:0005579	Impaired renal ltubular reabsorption of chloride	Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.
HP:0005580	Duplication of renal pelvis	A duplication of the renal pelvis.
HP:0005583	Tubular basement membrane disintegration	DIsruption and breaking up of the basement membrane of the tubules of the kidney.
HP:0005584	Renal cell carcinoma	A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
HP:0005585	Spotty hyperpigmentation	
HP:0005586	Hyperpigmentation in sun-exposed areas	
HP:0005587	Profuse pigmented skin lesions	
HP:0005588	Patchy palmoplantar hyperkeratosis	A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.
HP:0005590	Spotty hypopigmentation	
HP:0005592	Giant melanosomes in melanocytes	The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.
HP:0005593	Macular hypopigmented whorls, streaks, and patches	
HP:0005595	Generalized hyperkeratosis	
HP:0005597	Congenital alopecia totalis	Loss of all scalp hair with congenital onset.
HP:0005598	Facial telangiectasia in butterfly midface distribution	Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.
HP:0005599	Hypopigmentation of hair	
HP:0005600	Congenital giant melanocytic nevus	The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.
HP:0005602	Progressive vitiligo	
HP:0005603	Numerous congenital melanocytic nevi	
HP:0005605	Large cafe-au-lait macules with irregular margins	Large hypermelanotic macules with jagged borders.
HP:0005606	Hyperpigmented nevi and streak	
HP:0005607	Abnormal tracheobronchial morphology	
HP:0005608	Bilobate gallbladder	The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.
HP:0005609	Gallbladder dysfunction	
HP:0005612	Arthrogryposis-like hand anomaly	
HP:0005613	Aplasia/hypoplasia of the femur	Absence or underdevelopment of the femur.
HP:0005616	Accelerated skeletal maturation	An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
HP:0005617	Bilateral camptodactyly	
HP:0005619	Thoracolumbar kyphosis	Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
HP:0005620	Hypermobility of interphalangeal joints	The ability of the interphalangeal joints to move beyond their normal range of motion.
HP:0005621	Trapezoidal vertebral body	An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the fron or back than on the other side.
HP:0005622	Broad long bones	Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
HP:0005623	Absent ossification of calvaria	Absent ossification of the calvaria (vault of the skull).
HP:0005625	Osteoporosis of vertebrae	Osteoporosis affecting predominantly the vertebrae.
HP:0005626	Posterior fusion of lumbosacral vertebrae	Bony fusion of the posterior part of the L5 vertebral body with the sacrum.
HP:0005627	Type D brachydactyly	This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.
HP:0005632	Absent forearm	
HP:0005638	Decreased anterioposterior diameter of lumbar vertebral bodies	
HP:0005639	Hyperextensible hand joints	The ability of the joints of the hand to move beyond their normal range of motion.
HP:0005640	Abnormal vertebral segmentation and fusion	
HP:0005643	Short 3rd toe	Underdevelopment (hypoplasia) of the third toe.
HP:0005645	Intervertebral disk calcification	The presence of abnormal calcium deposition of the intervertebral disk.
HP:0005648	Bilateral ulnar hypoplasia	Underdevelopment of the ulna on both sides.
HP:0005650	2-5 finger cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.
HP:0005652	Cortical sclerosis	Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
HP:0005653	Moderate generalized osteoporosis	Moderate osteoporosis.
HP:0005655	Multiple digital exostoses	Multiple exostoses originating in the fingers and toes.
HP:0005656	Positional foot deformity	A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.
HP:0005659	Thoracic kyphoscoliosis	
HP:0005661	Salmonella osteomyelitis	Osteomyelitis caused by infection with the bacteria, salmonella.
HP:0005665	Massively thickened long bone cortices	Extreme thickening of the cortex of long bones.
HP:0005667	Os odontoideum	Separation of the odontoid process from the body of the axis.
HP:0005671	Bilateral intracerebral calcifications	Deposition of calcium salts on both sides of the brain.
HP:0005676	Rudimentary postaxial polydactyly of hands	
HP:0005678	Anterior atlanto-occipital dislocation	
HP:0005679	Dupuytren contracture	An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.
HP:0005680	Tongue-like lumbar vertebral deformities	A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.
HP:0005681	Juvenile rheumatoid arthritis	
HP:0005682	Talocalcaneal synostosis	
HP:0005684	Distal arthrogryposis	An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.
HP:0005686	Patchy osteosclerosis	Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0005687	Deformed humeral heads	
HP:0005688	Dysplastic distal thumb phalanges with a central hole	
HP:0005689	Dermatoglyphic ridges abnormal	
HP:0005692	Joint hyperflexibility	Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
HP:0005694	Partial fusion of proximal row of carpal bones	
HP:0005696	Postaxial polydactyly type A	Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.
HP:0005700	Increased bone density with cystic changes	
HP:0005701	Multiple enchondromatosis	
HP:0005707	Bilateral triphalangeal thumbs	A bilateral form of triphalangeal thumb.
HP:0005709	2-3 toe cutaneous syndactyly	
HP:0005715	Flattened knee epiphyses	
HP:0005716	Lethal skeletal dysplasia	
HP:0005720	Shortening of all metacarpals	Abnormal reduction in length of all metacarpal bones.
HP:0005722	Hyperextensible thumb	The ability of the thumb joints to move beyond their normal range of motion.
HP:0005723	Shoe-shaped sella turcica	
HP:0005725	Nonopposable triphalangeal thumb	A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.
HP:0005726	Thumbs hypoplastic with bulbous tips	
HP:0005731	Cortical irregularity	An abnormal irregularity of cortical bone.
HP:0005733	Spinal stenosis with reduced interpedicular distance	An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).
HP:0005736	Short tibia	Underdevelopment (reduced size) of the tibia.
HP:0005739	Posterior subluxation of radial head	Partial dislocation of the head of the radius in the posterior direction.
HP:0005743	Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
HP:0005745	Congenital foot contractures	
HP:0005746	Osteosclerosis of the base of the skull	An increase in bone density affecting the basicranium (base of the skull).
HP:0005747	Easily subluxated first metacarpophalangeal joints	
HP:0005750	Lower-limb joint contracture	A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
HP:0005752	Flattened moderately deformed vertebrae	
HP:0005756	Neonatal epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.
HP:0005758	Basilar impression	Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
HP:0005759	Small flat posterior fossa	An abnormally small and flat configuration of the posterior cranial fossa.
HP:0005764	Polyarticular arthritis	
HP:0005765	Sacral meningocele	
HP:0005766	Disproportionate shortening of the tibia	
HP:0005767	1-2 toe complete cutaneous syndactyly	
HP:0005768	2-4 toe cutaneous syndactyly	A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.
HP:0005769	Fifth finger distal phalanx clinodactyly	Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).
HP:0005772	Aplasia/Hypoplasia of the tibia	Absence or underdevelopment of the tibia.
HP:0005773	Short forearm	Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.
HP:0005775	Multiple skeletal anomalies	
HP:0005776	Carpal bone malsegmentation	
HP:0005780	Absent fourth finger distal interphalangeal crease	Absence of the distal interphalangeal flexion creases of the fourth finger.
HP:0005781	Contractures of the large joints	
HP:0005787	Lumbar platyspondyly	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.
HP:0005788	Abnormal cervical myelogram	
HP:0005789	Generalized osteosclerosis	An abnormal increase of bone mineral density with generalized involvement of the skeleton.
HP:0005790	Short mandibular condyles	
HP:0005791	Cortical thickening of long bone diaphyses	Abnormal thickening of the cortex of the diaphyseal region of long bones.
HP:0005792	Short humerus	Underdevelopment of the humerus.
HP:0005793	Shortening of all distal phalanges of the toes	Abnormally short distal phalanx of toe of all toes.
HP:0005798	Posterior radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.
HP:0005802	Coalescence of tarsal bones	
HP:0005807	Absent distal phalanges	Aplasia (absence) of the distal phalanges.
HP:0005815	Supernumerary ribs	The presence of more than 12 rib pairs.
HP:0005817	Postaxial polysyndactyly of foot	Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).
HP:0005819	Short middle phalanx of finger	Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
HP:0005820	Superior rib anomalies	
HP:0005824	Clinodactyly of the 2nd toe	Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).
HP:0005825	Mixed sclerosis of humeral metaphyses	
HP:0005828	Transient pulmonary infiltrates	
HP:0005829	Maldevelopment of radioulnar joint	
HP:0005830	Flexion contracture of toe	One or more bent (flexed) toe joints that cannot be straightened actively or passively.
HP:0005831	Type B brachydactyly	
HP:0005832	Dysharmonic delayed bone age	A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.
HP:0005841	Calcific stippling of infantile cartilaginous skeleton	
HP:0005844	Rounded middle phalanx of finger	An abnormally round shape of the middle phalanx of the finger.
HP:0005849	Diffuse cerebral calcification	Generalized deposition of calcium salts within the brain.
HP:0005850	Congenital talipes calcaneovalgus	
HP:0005852	Limited elbow extension and supination	
HP:0005853	Congenital foot contraction deformities	
HP:0005855	Multiple prenatal fractures	The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
HP:0005856	Ulnar radial head dislocation	A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.
HP:0005857	Cervical spina bifida	
HP:0005863	Type E brachydactyly	In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.
HP:0005864	Pseudoarthrosis	A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
HP:0005866	Opposable triphalangeal thumb	A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.
HP:0005867	4-5 metacarpal synostosis	
HP:0005868	Metaphyseal enchondromatosis	An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.
HP:0005871	Metaphyseal chondrodysplasia	An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
HP:0005872	Brachytelomesophalangy	Disproportionately short middle and distal phalanges compared to the hand/foot.
HP:0005873	Polysyndactyly of hallux	Combined syndactyly and polydactyly of the great toe.
HP:0005875	Increased dermatoglyphic whorls	
HP:0005876	Progressive flexion contractures	Progressively worsening joint contractures.
HP:0005877	Multiple small vertebral fractures	
HP:0005878	Enlarged sagittal diameter of the cervical canal	
HP:0005879	Congenital finger flexion contractures	Multiple bent (flexed) finger joints that cannot be straightened actively or passively.
HP:0005880	Metacarpophalangeal synostosis	Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.
HP:0005881	Spinal instability	
HP:0005882	Dermatoglyphic variants	
HP:0005885	Absent ossification of cervical vertebral bodies	A lack of bone mineralization of one or more body of cervical vertebra.
HP:0005886	Aphalangy of the hands	Absence of a digit or of one or more phalanges of a finger.
HP:0005890	Hyperostosis cranialis interna	Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.
HP:0005891	Progressive forearm bowing	Progressive bending or abnormal curvature of the forearm skeleton.
HP:0005892	Proximal tibial and fibular fusion	
HP:0005894	Double first metacarpals	Duplication of the metacarpal I bones.
HP:0005895	Radial deviation of thumb terminal phalanx	
HP:0005897	Severe generalized osteoporosis	Severe degree of osteoporosis.
HP:0005900	Fifth metacarpal with ulnar notch	Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).
HP:0005905	Abnormal cervical curvature	The presence of an abnormal curvature of the cervical vertebral column.
HP:0005906	Delayed pneumatization of the mastoid process	An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.
HP:0005910	Rhomboid or triangular shaped 5th finger middle phalanx	Rhomboid or triangular shaped 5th (little) finger middle phalanx.
HP:0005912	Biliary atresia	Atresia of the biliary tree.
HP:0005913	Abnormal metacarpal epiphysis morphology	
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	Aplasia or Hypoplasia affecting the metacarpal bones.
HP:0005916	Abnormal metacarpal morphology	Any abnormal shape or structure of the metacarpal bones.
HP:0005917	Supernumerary metacarpal bones	The presence of more than the normal number of metacarpal bones.
HP:0005918	Abnormal finger phalanx morphology	Abnormalities affecting the phalanx of finger.
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
HP:0005922	Abnormal hand morphology	Any structural anomaly of the hand.
HP:0005923	Abnormal hand metaphysis morphology	
HP:0005924	Abnormal hand epiphysis morphology	Any abnormality of the epiphyses of the phalanges or metacarpal bones.
HP:0005925	Abnormal hand diaphysis morphology	
HP:0005926	Abnormal hand cortical bone morphology	An anomaly of the outer shell (cortex) of a hand bone.
HP:0005927	Aplasia/hypoplasia involving bones of the hand	Absence (due to failure to form) or underdevelopment of the bones of the hand.
HP:0005928	Synostosis involving the fibula	
HP:0005929	Synostosis involving the tibia	
HP:0005930	Abnormal epiphysis morphology	An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
HP:0005932	Abnormal renal corticomedullary differentiation	An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.
HP:0005934	Imperfect vocal cord adduction	
HP:0005938	Abnormal respiratory motile cilium morphology	Abnormal arrangement of the structures of the motile cilium.
HP:0005939	Multiple bilateral pneumothoraces	
HP:0005941	Intermittent hyperpnea at rest	
HP:0005942	Desquamative interstitial pneumonitis	Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.
HP:0005943	Respiratory arrest	
HP:0005944	Bilateral lung agenesis	Bilateral lack of development of the lungs.
HP:0005945	Laryngeal obstruction	Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.
HP:0005946	Ventilator dependence with inability to wean	
HP:0005947	Decreased sensitivity to hypoxemia	Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.
HP:0005948	Multiple pulmonary cysts	The presence of multiple lung cysts.
HP:0005949	Apneic episodes in infancy	Recurrent episodes of apnea occurring during infancy.
HP:0005950	Laryngeal web	A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
HP:0005951	Progressive inspiratory stridor	
HP:0005954	Pulmonary capillary hemangiomatosis	
HP:0005956	Anteroposteriorly shortened larynx	Abnormal shortening of the larynx in the anteroposterior (front to back) axis.
HP:0005957	Breathing dysregulation	
HP:0005959	Impaired gluconeogenesis	An impairment of gluconeogenesis.
HP:0005961	Hypoargininemia	A decreased concentration of arginine in the blood.
HP:0005964	Intermittent hypothermia	Episodes of reduced body termperature.
HP:0005967	Mixed respiratory and metabolic acidosis	
HP:0005968	Temperature instability	Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.
HP:0005972	Respiratory acidosis	Acidosis because of respiratory retention of carbon dioxide.
HP:0005973	Fructose intolerance	Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.
HP:0005974	Episodic ketoacidosis	Intermittent episodes of ketoacidosis.
HP:0005976	Hyperkalemic metabolic acidosis	
HP:0005977	Hypochloremic metabolic alkalosis	
HP:0005978	Type II diabetes mellitus	A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
HP:0005979	Metabolic ketoacidosis	A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.
HP:0005982	Reduced phenylalanine hydroxylase level	A reduction in phenylalanine 4-monooxygenase level.
HP:0005984	Elevated maternal serum alpha-fetoprotein	An elevation of alpha-feto protein in the maternal serum.
HP:0005986	Limitation of neck motion	
HP:0005987	Multinodular goiter	Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.
HP:0005988	Congenital muscular torticollis	A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.
HP:0005989	Redundant neck skin	Excess skin around the neck, often lying in horizontal folds.
HP:0005990	Thyroid hypoplasia	Developmental hypoplasia of the thyroid gland.
HP:0005991	Limited neck flexion	Reduced abilty to lower the chin towards the chest by bending the neck.
HP:0005994	Nodular goiter	Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.
HP:0005995	Decreased adipose tissue around neck	Reduced amount of adipose tissue in the region of the neck.
HP:0005997	Neck joint contracture	
HP:0005999	Ureteral atresia	A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.
HP:0006000	Ureteral obstruction	Obstruction of the flow of urine through the ureter.
HP:0006006	Hypotrophy of the small hand muscles	
HP:0006008	Unilateral brachydactyly	
HP:0006009	Broad phalanx	Increased side-to-side width of one or more phalanges of the fingers or toes.
HP:0006011	Cuboidal metacarpal	Severely shortened metacarpal with a cuboidal appearance.
HP:0006012	Widened metacarpal shaft	
HP:0006014	Abnormally shaped carpal bones	
HP:0006016	Delayed phalangeal epiphyseal ossification	Delay in the process of formation and maturation of the epiphysis of one or more phalanx.
HP:0006019	Reduced proximal interphalangeal joint space	
HP:0006026	Rounded epiphyses	
HP:0006028	Metaphyseal cupping of metacarpals	Metaphyseal cupping affecting the metacarpal bones.
HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	
HP:0006040	Long second metacarpal	
HP:0006042	Y-shaped metacarpals	Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
HP:0006045	Short pointed phalanges	
HP:0006048	Distal widening of metacarpals	Abnormal increase in width of the distal region of the metacarpal bones.
HP:0006051	Metacarpal periosteal thickening	
HP:0006055	Ulnar deviated club hands	
HP:0006059	Cone-shaped metacarpal epiphyses	A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.
HP:0006060	Tombstone-shaped proximal phalanges	
HP:0006064	Limited interphalangeal movement	
HP:0006067	Multiple carpal ossification centers	A delay in the process of formation and maturation of the epiphysis of one or more long bones.
HP:0006070	Metacarpophalangeal joint contracture	A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
HP:0006077	Absent proximal finger flexion creases	Absence of the proximal interphalangeal flexion creases of the fingers.
HP:0006086	Thin metacarpal cortices	
HP:0006088	1-5 finger complete cutaneous syndactyly	
HP:0006089	Palmar hyperhidrosis	
HP:0006092	Malaligned carpal bone	Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).
HP:0006094	Finger joint hypermobility	
HP:0006095	Wide tufts of distal phalanges	
HP:0006097	3-4 finger syndactyly	Syndactyly with fusion of fingers three and four.
HP:0006099	Metacarpophalangeal joint hyperextensibility	Increased mobility of one ore more metacarpophalangeal joint.
HP:0006101	Finger syndactyly	Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
HP:0006106	Absent trapezoid bone	
HP:0006107	Fingerpad telangiectases	Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.
HP:0006108	Tapered metacarpals	Metacarpal that becomes thinner toward the distal end.
HP:0006109	Absent phalangeal crease	Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).
HP:0006110	Shortening of all middle phalanges of the fingers	Short, hypoplastic middle phalanx of finger, affecting all fingers.
HP:0006112	Expanded phalanges with widened medullary cavities	
HP:0006114	Multiple palmar creases	The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).
HP:0006118	Shortening of all distal phalanges of the fingers	Hypoplasia of all of the distal phalanx of finger.
HP:0006119	Proximal tapering of metacarpals	Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.
HP:0006121	Acral ulceration	A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.
HP:0006127	Long proximal phalanx of finger	Increased length of the proximal phalanx of finger.
HP:0006129	Drumstick terminal phalanges	Rounding and broadening of the tufts of the distal phalanges.
HP:0006134	Enlarged metacarpal epiphyses	Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).
HP:0006135	Decreased finger mobility	
HP:0006136	Bilateral postaxial polydactyly	
HP:0006140	Premature fusion of phalangeal epiphyses	Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.
HP:0006143	Abnormal finger flexion crease	Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).
HP:0006144	Shortening of all proximal phalanges of the fingers	Congenital hypoplasia of proximal phalanx of finger or all fingers.
HP:0006145	Central Y-shaped metacarpal	A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.
HP:0006146	Broad metacarpal epiphyses	Increased side-to-side width of the metacarpal epiphyses.
HP:0006147	Progressive fusion 2nd-5th pip joints	
HP:0006149	Increased laxity of fingers	
HP:0006150	Swan neck-like deformities of the fingers	A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.
HP:0006152	Proximal symphalangism of hands	The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.
HP:0006153	Disharmonious carpal bone	
HP:0006155	Long phalanx of finger	Increased length of multiple or a single phalanx of finger.
HP:0006156	Ulnar deviation of thumb	Bending or curvature of a thumb towards the ulnar side (towards the ring finger).
HP:0006157	Prominent palmar flexion creases	
HP:0006159	Mesoaxial hand polydactyly	The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
HP:0006160	Irregular metacarpals	Irregular morphology of one or more metacarpal bones.
HP:0006161	Short metacarpals with rounded proximal ends	
HP:0006162	Soft tissue swelling of interphalangeal joints	
HP:0006163	Enlarged metacarpophalangeal joints	
HP:0006165	Proportionate shortening of all digits	
HP:0006166	Tubular metacarpal bones	
HP:0006167	Prominent proximal interphalangeal joints	
HP:0006169	Decreased mobility 3rd-5th fingers	
HP:0006170	Chess-pawn distal phalanges	A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.
HP:0006172	Flattened, squared-off epiphyses of tubular bones	
HP:0006174	Metacarpal diaphyseal endosteal sclerosis	Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.
HP:0006175	Proximal phalangeal periosteal thickening	
HP:0006176	Two carpal ossification centers present at birth	
HP:0006179	Pseudoepiphyses of second metacarpal	
HP:0006180	Crowded carpal bones	
HP:0006184	Decreased palmar creases	Poorly defined or shallow palmar creases.
HP:0006185	Enlarged proximal interphalangeal joints	
HP:0006189	Prominent interdigital folds	
HP:0006190	Radially deviated wrists	
HP:0006191	Deep palmar crease	Excessively deep creases of the palm.
HP:0006192	Tapered phalanx of finger	Phalanges of the fingers becoming thinner toward the distal end.
HP:0006193	Thimble-shaped middle phalanges of hand	The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.
HP:0006200	Widened distal phalanges	
HP:0006201	Hypermobility of distal interphalangeal joints	
HP:0006202	Osteolysis of scaphoids	
HP:0006203	Decreased movement range in interphalangeal joints	
HP:0006205	Irregular phalanges	Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.
HP:0006206	Hypersegmentation of proximal phalanx of second finger	Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.
HP:0006207	Partial fusion of carpals	
HP:0006208	Metaphyseal cupping of proximal phalanges	Metaphyseal cupping affecting the proximal phalanges.
HP:0006209	Partial-complete absence of 5th phalanges	
HP:0006210	Postaxial oligodactyly	
HP:0006213	Thin proximal phalanges with broad epiphyses of the hand	
HP:0006216	Single interphalangeal crease of fifth finger	Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.
HP:0006217	Limited mobility of proximal interphalangeal joint	
HP:0006224	Tapering pointed ends of distal finger phalanges	A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).
HP:0006226	Osteoarthritis of the first carpometacarpal joint	
HP:0006228	Valgus hand deformity	
HP:0006230	Unilateral oligodactyly	
HP:0006232	Expanded metacarpals with widened medullary cavities	
HP:0006233	Osteoarthritis of the distal interphalangeal joint	
HP:0006234	Osteolysis involving tarsal bones	An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
HP:0006236	Slender metacarpals	Decreased width of the metacarpal bones (that is, reduced diameter).
HP:0006237	Prominent interphalangeal joints	
HP:0006239	Shortening of all middle phalanges of the toes	Abnormal shortening of all middle phalanges of toes.
HP:0006243	Phalangeal dislocation	
HP:0006247	Enlarged interphalangeal joints	
HP:0006248	Limited wrist movement	An abnormal limitation of the mobility of the wrist.
HP:0006251	Limited wrist extension	
HP:0006252	Interphalangeal joint erosions	
HP:0006253	Swelling of proximal interphalangeal joints	
HP:0006254	Elevated circulating alpha-fetoprotein concentration	Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.
HP:0006256	Abnormality of hand joint mobility	
HP:0006257	Abnormality of carpal bone ossification	
HP:0006261	Abnormal phalangeal joint morphology of the hand	
HP:0006262	Aplasia/Hypoplasia of the 5th finger	A small/hypoplastic or absent/aplastic 5th finger.
HP:0006263	Abnormality of the epiphyses of the 2nd finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.
HP:0006264	Aplasia/Hypoplasia of the 2nd finger	A small/hypoplastic or absent/aplastic 2nd finger.
HP:0006265	Aplasia/Hypoplasia of fingers	Small/hypoplastic or absent/aplastic fingers.
HP:0006266	Small placenta	Reduced size of the placenta.
HP:0006267	Large placenta	Increased size of the placenta.
HP:0006268	Fluctuating splenomegaly	Intermittently increased size of the spleen.
HP:0006270	Hypoplastic spleen	Underdevelopment of the spleen.
HP:0006273	Pancreatic lymphangiectasis	The presence of lymphangiectasis in the pancreas.
HP:0006274	Reduced pancreatic beta cells	Reduced number of beta cells in the pancreatic islets of Langerhans.
HP:0006276	Hyperechogenic pancreas	
HP:0006277	Pancreatic hyperplasia	Hyperplasia of the pancreas.
HP:0006278	Ectopic pancreatic tissue	The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.
HP:0006279	Beta-cell dysfunction	
HP:0006280	Chronic pancreatitis	A chronic form of pancreatitis.
HP:0006282	Generalized hypoplasia of dental enamel	A generalized form of developmental hypoplasia of the dental enamel.
HP:0006283	Multiple unerupted teeth	The presence of multiple embedded tooth germs which have failed to erupt.
HP:0006285	Enamel hypomineralization	A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.
HP:0006286	Yellow-brown discoloration of the teeth	
HP:0006288	Advanced eruption of teeth	Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.
HP:0006289	Agenesis of central incisor	Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.
HP:0006290	Discolored lateral incisors	The presence of discolored lateral incisors.
HP:0006291	Marked delay in eruption of permanent teeth	
HP:0006292	Abnormality of dental eruption	An abnormality of tooth eruption.
HP:0006293	Agenesis of maxillary central incisor	Agenesis of upper secondary incisor or of upper central primary incisor.
HP:0006297	Enamel hypoplasia	Developmental hypoplasia of the dental enamel.
HP:0006298	Prolonged bleeding after dental extraction	Prolonged bleeding post dental extraction sufficient to require medical intervention.
HP:0006302	Dagger-shaped pulp calcifications	Dagger-shaped calcifications in the dental pulp.
HP:0006304	Widely-spaced incisors	
HP:0006308	Atrophy of alveolar ridges	
HP:0006311	Generalized microdontia	A generalized form of microdontia.
HP:0006313	Widely spaced primary teeth	Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.
HP:0006315	Solitary median maxillary central incisor	A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
HP:0006316	Irregularly spaced teeth	Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.
HP:0006321	Multiple non-erupting secondary teeth	
HP:0006323	Premature loss of primary teeth	Loss of the primary (also known as deciduous) teeth before the usual age.
HP:0006326	Buried teeth encased in mucopolysaccharide	
HP:0006329	Alveolar process hypoplasia	Underdevelopment of the alveolar process (also known as alveolar bone).
HP:0006330	Rotated maxillary central incisors	
HP:0006332	Supernumerary maxillary incisor	The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.
HP:0006333	Crowded maxillary incisors	A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.
HP:0006334	Hypoplasia of the primary teeth	Developmental hypoplasia of the primary teeth.
HP:0006335	Persistence of primary teeth	Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
HP:0006336	Short dental root	Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.
HP:0006337	Premature eruption of permanent teeth	Premature tooth eruption of the permanent dentition.
HP:0006338	Malformation of mandibular premolar	An abnormality of the morphology of secondary premolar tooth.
HP:0006339	Conical mandibular incisor	An abnormal conical morphology of the primary or permanent mandibular incisors.
HP:0006342	Peg-shaped maxillary lateral incisors	A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter
HP:0006344	Abnormality of primary molar morphology	An abnormality of morphology of primary molar.
HP:0006346	Screwdriver-shaped incisors	An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.
HP:0006347	Microdontia of primary teeth	Decreased size of the primary teeth.
HP:0006349	Agenesis of permanent teeth	A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
HP:0006350	Pulp obliteration	Mineralized substance filling the entire dental pulp space.
HP:0006352	Failure of eruption of permanent teeth	Lack of tooth eruption of the secondary dentition.
HP:0006353	Hypoplasia of the tooth germ	Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.
HP:0006355	Agenesis of mandibular central incisor	Agenesis of lower secondary incisor or lower primary incisor.
HP:0006357	Premature loss of permanent teeth	Premature loss of the permanent teeth.
HP:0006358	Shovel-shaped maxillary central incisors	A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.
HP:0006361	Irregular femoral epiphysis	
HP:0006362	Varus deformity of humeral neck	
HP:0006366	Adductor longus contractures	
HP:0006367	Crumpled long bones	An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.
HP:0006368	Forearm reduction defects	
HP:0006369	Irregular patellae	An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.
HP:0006370	Distal ulnar epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.
HP:0006371	Broad long bone diaphyses	Increased width of the diaphysis of long bones.
HP:0006375	Dumbbell-shaped femur	The femur is shortened and displays flaring (widening) of the metaphyses.
HP:0006376	Limited elbow flexion	
HP:0006378	Osteolysis of patellae	
HP:0006379	Proximal tibial hypoplasia	
HP:0006380	Knee flexion contracture	A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.
HP:0006381	Rudimentary fibula	Absent or nearly absent fibula. (Does not include aplastic)
HP:0006383	Progressive bowing of long bones	Progressive bending or abnormal curvature of a long bone.
HP:0006384	Club-shaped distal femur	An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.
HP:0006385	Short lower limbs	Shortening of the legs related to developmental hypoplasia of the bones of the leg.
HP:0006386	Hypoplastic distal radial epiphyses	Underdevelopment of the distal epiphysis of the radius.
HP:0006387	Wide distal femoral metaphysis	Increased width of the distal part of the shaft (metaphysis) of the femur.
HP:0006389	Limited knee flexion	Reduced ability to flex (bend) the knee joint.
HP:0006390	Anterior tibial bowing	An abnormal anterior bending or curvature of the tibia.
HP:0006391	Overtubulated long bones	Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.
HP:0006392	Increased density of long bones	An abnormal increase in the bone density of the long bones.
HP:0006394	Limited pronation/supination of forearm	A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).
HP:0006397	Lateral displacement of patellae	
HP:0006398	Flat distal femoral epiphysis	An abnormal flattening of the distal epiphysis of femur.
HP:0006400	Absent knee epiphyses	
HP:0006402	Distal shortening of limbs	
HP:0006406	Club-shaped proximal femur	An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.
HP:0006407	Irregular distal femoral epiphysis	Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.
HP:0006408	Distal tapering femur	
HP:0006409	Progressive leg bowing	Progressive bending or abnormal curvature of the leg.
HP:0006413	Broad tibial metaphyses	
HP:0006414	Distal tibial bowing	A bending or abnormal curvature of the distal portion of the tibia.
HP:0006415	Cortically dense long tubular bones	Increased density of the compact bone of long bone.
HP:0006417	Broad femoral metaphyses	
HP:0006420	Asymmetric radial dysplasia	The presence of asymmetric developmental dysplasia of the radius.
HP:0006423	Peg-like central prominence of distal tibial metaphyses	
HP:0006424	Elongated radius	Increased length of the radius.
HP:0006426	Rudimentary to absent tibiae	
HP:0006429	Broad femoral neck	An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
HP:0006431	Proximal femoral metaphyseal abnormality	An anomaly of the metaphysis of the proximal femur (close to the hip).
HP:0006432	Trapezoidal distal femoral condyles	
HP:0006433	Radial dysplasia	Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.
HP:0006434	Hypoplasia of proximal radius	Proximal radial shortening owing to a congenital defect of development.
HP:0006437	Disproportionate prominence of the femoral medial condyle	
HP:0006438	Enlargement of the distal femoral epiphysis	An abnormal enlargement of the distal epiphysis of the femur.
HP:0006439	Radioulnar dislocation	
HP:0006440	Increased density of long bone diaphyses	
HP:0006441	Lateral humeral condyle aplasia	
HP:0006442	Hypoplasia of proximal fibula	Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.
HP:0006443	Patellar aplasia	Absence of the patella.
HP:0006446	Dysplastic patella	
HP:0006449	Distal radial epiphyseal osteolysis	
HP:0006450	Multicentric ossification of proximal femoral epiphyses	
HP:0006453	Lateral displacement of the femoral head	A developmental anomaly with lateral displacement of the femoral head.
HP:0006454	Delayed patellar ossification	Formation of bone in the patella later than normal.
HP:0006456	Irregular proximal tibial epiphyses	Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.
HP:0006459	Dorsal subluxation of ulna	Partial dislocation of the ulna in the dorsal direction.
HP:0006460	Increased laxity of ankles	
HP:0006461	Proximal femoral epiphysiolysis	Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.
HP:0006462	Generalized bone demineralization	A generalized decrease in bone mineral density.
HP:0006463	Rickets of the lower limbs	
HP:0006465	Periosteal thickening of long tubular bones	Thickening of the periosteum of long bone.
HP:0006466	Ankle flexion contracture	
HP:0006467	Limited shoulder movement	A limitation of the range of movement of the shoulder joint.
HP:0006470	Thin long bone diaphyses	Decreased width of the diaphysis of long bones.
HP:0006471	Fixed elbow flexion	
HP:0006473	Anterior bowing of long bones	An abnormal anterior curvature of a long bone.
HP:0006476	Abnormality of the pancreatic islet cells	An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.
HP:0006477	Abnormality of the alveolar ridges	Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.
HP:0006479	Abnormal dental pulp morphology	An abnormality of the dental pulp.
HP:0006480	Premature loss of teeth	Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
HP:0006481	Abnormality of primary teeth	Any abnormality of the primary tooth.
HP:0006482	Abnormality of dental morphology	An abnormality of the morphology of the tooth.
HP:0006483	Abnormal number of teeth	The presence of an altered number of of teeth.
HP:0006485	Agenesis of incisor	Agenesis of incisor.
HP:0006486	Abnormal dental root morphology	An abnormality of the dental root.
HP:0006487	Bowing of the long bones	A bending or abnormal curvature of a long bone.
HP:0006488	Bowing of the arm	A bending or abnormal curvature affecting a long bone of the arm.
HP:0006489	Abnormal femoral metaphysis morphology	An anomaly of the femoral metaphysis.
HP:0006490	Abnormal lower-limb metaphysis morphology	
HP:0006491	Abnormal tibial metaphysis morphology	
HP:0006492	Aplasia/Hypoplasia of the fibula	Absence or underdevelopment of the fibula.
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	
HP:0006495	Aplasia/Hypoplasia of the ulna	Absence or underdevelopment of the ulna.
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.
HP:0006498	Aplasia/Hypoplasia of the patella	Absence or underdevelopment of the patella.
HP:0006499	Abnormal femoral epiphysis morphology	An anomaly of a growth plate of a femur.
HP:0006500	Abnormality of lower limb epiphysis morphology	An anomaly of one or more epiphyses of one or both legs.
HP:0006501	Aplasia/Hypoplasia of the radius	A small/hypoplastic or absent/aplastic radius.
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	Absence or underdevelopment of the carpal bones.
HP:0006503	Aplasia/hypoplasia involving forearm bones	Absence (due to failure to form) or underdevelopment of one or more forearm bones.
HP:0006505	Abnormal limb epiphysis morphology	An anomaly of one or more epiphyses of a limb.
HP:0006507	Aplasia/hypoplasia of the humerus	Absence (due to failure to form) or underdevelopment of the humerus.
HP:0006508	Abnormality of tibial epiphyses	
HP:0006509	Diverticulosis of trachea	Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).
HP:0006510	Chronic pulmonary obstruction	An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
HP:0006511	Laryngeal stridor	An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.
HP:0006514	Intraalveolar nodular calcifications	
HP:0006515	Interstitial pneumonitis	
HP:0006516	Hypersensitivity pneumonitis	Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).
HP:0006517	Intraalveolar phospholipid accumulation	Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.
HP:0006518	Pulmonary venous occlusion	Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.
HP:0006519	Alveolar cell carcinoma	Adenocarcinoma of the Bronchus.
HP:0006520	Progressive pulmonary function impairment	
HP:0006521	Pulmonary lymphangiectasia	Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.
HP:0006522	Repeated pneumothoraces	
HP:0006524	Tracheobronchial leiomyomatosis	
HP:0006527	Lymphocytic interstitial pneumonia	Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.
HP:0006528	Chronic lung disease	According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
HP:0006529	Abnormal pulmonary lymphatics	An abnormality of the pulmonary lymphatic chain.
HP:0006530	Abnormal pulmonary interstitial morphology	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
HP:0006531	Pleural lymphangiectasia	
HP:0006532	Recurrent pneumonia	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
HP:0006533	Bronchodysplasia	
HP:0006535	Recurrent intrapulmonary hemorrhage	A recurrent hemorrhage occurring within the lung.
HP:0006536	Airway obstruction	Obstruction of conducting airways of the lung.
HP:0006538	Recurrent bronchopulmonary infections	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
HP:0006539	Bronchial cartilage hypoplasia	
HP:0006543	Cardiorespiratory arrest	
HP:0006544	Extrapulmonary sequestrum	A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.
HP:0006548	Pulmonary arteriovenous malformation	Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.
HP:0006549	Unilateral primary pulmonary dysgenesis	
HP:0006552	Fibrocystic lung disease	
HP:0006554	Acute hepatic failure	Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
HP:0006555	Diffuse hepatic steatosis	A diffuse form of hepatic steatosis.
HP:0006557	Polycystic liver disease	
HP:0006558	Decreased mitochondrial complex III activity in liver tissue	Decreased activity of complex III of the mitochondrion in the liver.
HP:0006559	Hepatic calcification	The presence of abnormal calcium deposition in the liver.
HP:0006560	Biliary hyperplasia	Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.
HP:0006561	Lipid accumulation in hepatocytes	
HP:0006562	Viral hepatitis	Inflammation of the liver due to infection with a virus.
HP:0006563	Malformation of the hepatic ductal plate	
HP:0006564	Fluctuating hepatomegaly	Intermittently increased size of the liver.
HP:0006565	Increased hepatocellular lipid droplets	An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.
HP:0006566	Neonatal cholestatic liver disease	
HP:0006568	Increased hepatic glycogen content	An increase in the amount of glycogen stored in hepatocytes compared to normal.
HP:0006571	Reduced number of intrahepatic bile ducts	The presence of reduced numbers of intrahepatic bile duct than normal.
HP:0006572	Subacute progressive viral hepatitis	
HP:0006573	Acute hepatic steatosis	An acute form of hepatic steatosis.
HP:0006574	Hepatic arteriovenous malformation	
HP:0006575	Intrahepatic cholestasis with episodic jaundice	
HP:0006576	Hepatic vascular malformations	
HP:0006577	Macronodular cirrhosis	A type of cirrhosis characterized by the presence of large regenerative nodules.
HP:0006579	Prolonged neonatal jaundice	Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
HP:0006580	Portal fibrosis	Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
HP:0006581	Depletion of mitochondrial DNA in liver	An abnormal reduction in the number of mitochondria in hepatocytes.
HP:0006582	Reye syndrome-like episodes	Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.
HP:0006583	Fatal liver failure in infancy	
HP:0006584	Small abnormally formed scapulae	
HP:0006585	Congenital pseudoarthrosis of the clavicle	The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.
HP:0006587	Straight clavicles	An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .
HP:0006589	Flaring of lower rib cage	
HP:0006590	Premature sternal synostosis	Prematurely closed sternal sutures.
HP:0006591	Absent glenoid fossa	Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
HP:0006593	Anomalous rib insertion to vertebrae	
HP:0006595	Scapulohumeral synostosis	Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.
HP:0006596	Restricted chest movement	
HP:0006597	Diaphragmatic paralysis	The presence of a paralyzed diaphragm.
HP:0006598	Irregular ossification at anterior rib ends	
HP:0006599	Medial widening of clavicles	
HP:0006600	Progressive calcification of costochondral cartilage	
HP:0006603	Flared, irregular rib ends	
HP:0006606	Irregular chondrocostal junctions	Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
HP:0006607	Precocious costochondral ossification	Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.
HP:0006608	Midclavicular hypoplasia	Underdevelopment of the middle portion of the clavicle.
HP:0006610	Wide intermamillary distance	A larger than usual distance between the left and right nipple.
HP:0006611	Decreased number of sternal ossification centers	A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.
HP:0006615	Absent in utero rib ossification	Lack of formation and mineralization of the ribs in utero.
HP:0006619	Anterior rib punctate calcifications	Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.
HP:0006623	Costochondral joint sclerosis	Abnormal increase in density of the tissue at the costochondral junctions.
HP:0006625	Multifocal breast carcinoma	Breast carcinoma that is bilateral or otherwise multifocal.
HP:0006628	Absent sternal ossification	Lack of formation of mineralized bony tissue of the sternum.
HP:0006631	Hypoplastic distal segments of scapulae	
HP:0006633	Glenoid fossa hypoplasia	Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
HP:0006634	Osteosclerosis of ribs	Osteosclerosis of ribs (increased density related to increased bone mass).
HP:0006637	Sternal punctate calcifications	
HP:0006638	Midclavicular aplasia	Developmental defect resulting in congenital absence of the middle portion of the clavicle.
HP:0006640	Multiple rib fractures	More than one fracture of the ribs.
HP:0006641	Prominent floating ribs	
HP:0006642	Large sternal ossification centers	
HP:0006643	Fused sternal ossification centers	
HP:0006644	Thoracic dysplasia	
HP:0006645	Thin clavicles	Abnormally reduced diameter (cross section) of the clavicles.
HP:0006646	Costal cartilage calcification	Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.
HP:0006647	Congenital microthorax	
HP:0006649	Costochondral pain	Chest wall pain in the area of the costochondral junctions.
HP:0006650	Thickening of the lateral border of the scapula	
HP:0006655	Rib segmentation abnormalities	
HP:0006657	Hypoplasia of first ribs	
HP:0006659	Internally rotated shoulders	
HP:0006660	Aplastic clavicle	Absence of the clavicles as a developmental defect.
HP:0006665	Coat hanger sign of ribs	An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).
HP:0006668	Twelfth rib hypoplasia	
HP:0006670	Impaired myocardial contractility	
HP:0006671	Paroxysmal atrial tachycardia	
HP:0006673	Reduced systolic function	
HP:0006677	Prolonged QRS complex	Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
HP:0006679	Granulomatous coronary arteritis	Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.
HP:0006681	Absent atrioventricular node	
HP:0006682	Premature ventricular contraction	Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
HP:0006683	Abnormal ventricular filling	An abnormality of filling of a ventricle with blood during diastole.
HP:0006684	Ventricular preexcitation with multiple accessory pathways	A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.
HP:0006685	Endocardial fibrosis	The presence of excessive connective tissue in the endocardium.
HP:0006687	Aortic tortuosity	Abnormal tortuous (i.e., twisted) form of the aorta.
HP:0006688	Paroxysmal tachycardia	
HP:0006689	Bacterial endocarditis	A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.
HP:0006690	Myocardial calcification	Calcium deposition in the myocardium.
HP:0006691	Pulmonic valve myxoma	
HP:0006692	Short chordae tendineae of the tricuspid valve	Abnormally short chordae tendineae of the tricuspid valve.
HP:0006693	Myocardial steatosis	Steatosis in the myocardium.
HP:0006694	Early progressive calcific cardiac valvular disease	
HP:0006695	Atrioventricular canal defect	A defect of the atrioventricular septum of the heart.
HP:0006696	Polymorphic and polytopic ventricular extrasystoles	
HP:0006698	Dilatation of the ventricular cavity	A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.
HP:0006699	Premature atrial contractions	A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.
HP:0006702	Coronary artery dissection	Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.
HP:0006703	Aplasia/Hypoplasia of the lungs	
HP:0006704	Abnormal coronary artery morphology	Any structural abnormality of the coronary arteries.
HP:0006705	Abnormal atrioventricular valve morphology	An abnormality of an atrioventricular valve.
HP:0006706	Cystic liver disease	
HP:0006707	Abnormality of the hepatic vasculature	An abnormality of the hepatic vasculature.
HP:0006709	Aplasia/Hypoplasia of the nipples	
HP:0006710	Aplasia/Hypoplasia of the clavicles	Absence or underdevelopment of the clavicles (collar bones).
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	
HP:0006712	Aplasia/Hypoplasia of the ribs	
HP:0006713	Aplasia/Hypoplasia of the scapulae	
HP:0006714	Aplasia/Hypoplasia of the sternum	
HP:0006715	Glomus tympanicum paraganglioma	
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	
HP:0006717	Peripheral neuroepithelioma	
HP:0006719	Benign gastrointestinal tract tumors	
HP:0006721	Acute lymphoblastic leukemia	A form of acute leukemia characterized by excess lympoblasts.
HP:0006722	Small intestine carcinoid	
HP:0006723	Intestinal carcinoid	
HP:0006725	Pancreatic adenocarcinoma	The presence of an adenocarcinoma of the pancreas.
HP:0006727	T-cell acute lymphoblastic leukemias	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.
HP:0006729	Retroperitoneal chemodectomas	
HP:0006731	Follicular thyroid carcinoma	The presence of an follicular adenocarcinoma of the thyroid gland.
HP:0006732	Papillary renal cell carcinoma type 2	A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.
HP:0006733	Acute megakaryocytic leukemia	A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.
HP:0006735	Renal cortical adenoma	The presence of an adenoma in the cortex of the kidney.
HP:0006737	Extraadrenal pheochromocytoma	Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.
HP:0006739	Squamous cell carcinoma of the skin	Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
HP:0006740	Transitional cell carcinoma of the bladder	The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
HP:0006742	Congenital neuroblastoma	
HP:0006743	Embryonal rhabdomyosarcoma	
HP:0006744	Adrenocortical carcinoma	A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
HP:0006747	Ganglioneuroblastoma	
HP:0006748	Adrenal pheochromocytoma	Pheochromocytoma originating from the adrenal medulla.
HP:0006749	Malignant gastrointestinal tract tumors	
HP:0006751	Paraspinal neurofibromas	
HP:0006753	Neoplasm of the stomach	A tumor (abnormal growth of tissue) of the stomach.
HP:0006755	Cutaneous leiomyosarcoma	The presence of leiomyosarcoma of the skin.
HP:0006756	Diffuse leiomyomatosis	
HP:0006758	Malignant genitourinary tract tumor	The presence of a malignant neoplasm of the genital system.
HP:0006762	Renal pelvic carcinoma	The presence of a carcinoma in the renal pelvis.
HP:0006763	Anal canal squamous carcinoma	
HP:0006765	Chondrosarcoma	A slowly growing malignant neoplasm derived from cartilage cells.
HP:0006766	Papillary renal cell carcinoma	The presence of renal cell carcinoma in the renal papilla.
HP:0006767	Pituitary prolactin cell adenoma	A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.
HP:0006768	Localized neuroblastoma	
HP:0006769	Myxoid subcutaneous tumors	
HP:0006770	Clear cell renal cell carcinoma	A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.
HP:0006771	Duodenal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the duodenum.
HP:0006772	Renal angiomyolipoma	A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
HP:0006773	Cutaneous angiolipomas	
HP:0006774	Ovarian papillary adenocarcinoma	The presence of a papillary adenocarcinoma of the ovary.
HP:0006775	Multiple myeloma	A malignant plasma cell tumor growing within soft tissue or within the skeleton.
HP:0006778	Benign genitourinary tract neoplasm	A non-malignant neoplasm of the genitourinary system.
HP:0006779	Alveolar rhabdomyosarcoma	
HP:0006780	Parathyroid carcinoma	A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.
HP:0006781	Hurthle cell thyroid adenoma	A kind of thyroid adenoma characterized by the presence of oxyphil cells.
HP:0006782	Malignant eosinophil proliferation	
HP:0006783	Posterior pharyngeal cleft	
HP:0006784	Paranasal sinus hypoplasia	Underdevelopment of the paranasal sinuses.
HP:0006785	Limb-girdle muscular dystrophy	Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).
HP:0006789	Mitochondrial encephalopathy	
HP:0006790	Cerebral cortex with spongiform changes	
HP:0006794	Loss of ability to walk in first decade	
HP:0006799	Basal ganglia cysts	
HP:0006801	Hyperactive deep tendon reflexes	
HP:0006802	Abnormal anterior horn cell morphology	Any anomaly of the anterior horn cell.
HP:0006803	Vivid hallucinations	
HP:0006808	Cerebral hypomyelination	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
HP:0006812	White mater abnormalities in the posterior periventricular region	
HP:0006813	Focal hemiclonic seizure	A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.
HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	Absence or underdevelopment of the vermis of cerebellum.
HP:0006818	4-layered lissencephaly	A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.
HP:0006821	Frontal polymicrogyria	A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.
HP:0006824	Cranial nerve paralysis	
HP:0006825	Pallor of dorsal columns of the spinal cord	An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.
HP:0006827	Atrophy of the spinal cord	
HP:0006829	Severe muscular hypotonia	A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
HP:0006834	Developmental stagnation at onset of seizures	A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.
HP:0006837	Congenital Horner syndrome	A type of Horner syndrome with congenital onset.
HP:0006844	Absent patellar reflexes	Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
HP:0006846	Acute encephalopathy	
HP:0006849	Hypodysplasia of the corpus callosum	Developmental defect characterized by a small and malformed corpus callosum.
HP:0006850	Hypoplasia of the ventral pons	Underdevelopment of the ventral portion of the pons.
HP:0006851	Symmetric spinal nerve root neurofibromas	Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.
HP:0006852	Episodic generalized hypotonia	The occurrence of repeated episodes of generalized muscular hypotonia.
HP:0006855	Cerebellar vermis atrophy	Wasting (atrophy) of the vermis of cerebellum.
HP:0006858	Impaired distal proprioception	A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
HP:0006859	Posterior leukoencephalopathy	
HP:0006863	Severe expressive language delay	A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0006865	Sensorimotor polyneuropathy affecting arms more than legs	
HP:0006866	Midline central nervous system lipomas	
HP:0006870	Lobar holoprosencephaly	A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.
HP:0006872	Cerebral hypoplasia	Underdevelopment of the cerebrum.
HP:0006873	Symmetrical progressive peripheral demyelination	A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0006879	Pontocerebellar atrophy	Atrophy affecting the pons and the cerebellum.
HP:0006880	Cerebellar hemangioblastoma	A hemangioblastoma of the cerebellum.
HP:0006881	Diffuse peripheral demyelination	A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0006882	Severe hydrocephalus	
HP:0006886	Impaired distal vibration sensation	A decrease in the ability to perceive vibration in the distal portions of the limbs.
HP:0006887	Intellectual disability, progressive	The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
HP:0006888	Meningoencephalocele	
HP:0006889	Intellectual disability, borderline	Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
HP:0006891	Thick cerebral cortex	
HP:0006892	Frontotemporal cerebral atrophy	Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.
HP:0006894	Hypoplastic olfactory lobes	
HP:0006895	Lower limb hypertonia	
HP:0006896	Hypnopompic hallucinations	Fleeting perceptual experiences that occur during the transition from sleep to wakefulness.
HP:0006897	Abducens palsy	Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.
HP:0006899	Fusion of the cerebellar hemispheres	
HP:0006903	Congenital peripheral neuropathy	
HP:0006904	Late-onset spinocerebellar degeneration	
HP:0006906	Congenital intracerebral calcification	The presence of calcium deposition within brain structures that is present already at the time of birth.
HP:0006913	Frontal cortical atrophy	Atrophy of the frontal cortex.
HP:0006915	Inability to walk by childhood/adolescence	
HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.
HP:0006918	Diffuse cerebral sclerosis	
HP:0006919	Abnormal aggressive, impulsive or violent behavior	
HP:0006921	Axial muscle stiffness	Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.
HP:0006926	Metachromatic leukodystrophy variant	
HP:0006927	Unilateral polymicrogyria	Excessive number of small gyri (convolutions) on the surface of one side of the brain.
HP:0006929	Hypoglycemic encephalopathy	Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.
HP:0006930	Frontoparietal cortical dysplasia	The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.
HP:0006931	Pericallosal lipoma	Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.
HP:0006932	Transient psychotic episodes	
HP:0006934	Congenital nystagmus	Nystagmus dating from or present at birth.
HP:0006937	Impaired distal tactile sensation	A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
HP:0006938	Impaired vibration sensation at ankles	A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.
HP:0006943	Diffuse spongiform leukoencephalopathy	
HP:0006944	Abolished vibration sense	A complete loss of the ability to perceive vibration.
HP:0006946	Recurrent meningitis	An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
HP:0006949	Episodic peripheral neuropathy	
HP:0006951	Retrocerebellar cyst	
HP:0006955	Olivopontocerebellar hypoplasia	Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
HP:0006956	Lateral ventricle dilatation	
HP:0006958	Abnormal auditory evoked potentials	An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
HP:0006959	Proximal spinal muscular atrophy	Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
HP:0006960	Choroid plexus calcification	The presence of calcium deposition in the choroid plexus.
HP:0006961	Jerky head movements	
HP:0006962	Gait instability, worse in the dark	
HP:0006964	Cerebral cortical neurodegeneration	
HP:0006965	Acute necrotizing encephalopathy	
HP:0006970	Periventricular leukomalacia	Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.
HP:0006976	Necrotizing encephalopathy	A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.
HP:0006977	Deficit in grammar	Deficit in grammar, including syntax and morphology.
HP:0006978	Dysmyelinating leukodystrophy	
HP:0006979	Sleep-wake cycle disturbance	Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake.
HP:0006980	Progressive leukoencephalopathy	Leukoencephalopathy that gets more severe with time.
HP:0006986	Upper limb spasticity	
HP:0006988	Alobar holoprosencephaly	A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.
HP:0006989	Dysplastic corpus callosum	Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.
HP:0006990	Myelin-dependent gliosis	A type of gliosis that occurs in the vicinity of injured neurons.
HP:0006992	Anterior basal encephalocele	
HP:0006994	Diffuse leukoencephalopathy	
HP:0006999	Basal ganglia gliosis	Focal proliferation of glial cells in the basal ganglia.
HP:0007000	Morning myoclonic jerks	
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	
HP:0007002	Motor axonal neuropathy	Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.
HP:0007006	Dorsal column degeneration	
HP:0007007	Cavitation of the basal ganglia	The formation of small cavities in the tissue of the basal ganglia.
HP:0007009	Central nervous system degeneration	
HP:0007010	Poor fine motor coordination	An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.
HP:0007011	Fourth cranial nerve palsy	Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.
HP:0007015	Poor gross motor coordination	An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.
HP:0007016	Corticospinal tract hypoplasia	
HP:0007017	Progressive forgetfulness	
HP:0007018	Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
HP:0007020	Progressive spastic paraplegia	
HP:0007021	Pain insensitivity	Inability to perceive painful stimuli.
HP:0007023	Antenatal intracerebral hemorrhage	Cerebral hemorrhage that occurs before birth.
HP:0007024	Pseudobulbar paralysis	Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
HP:0007027	Poorly formed metencephalon	A morphological abnormality of the metencephalon.
HP:0007029	Cerebral berry aneurysm	A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.
HP:0007030	Nonprogressive encephalopathy	
HP:0007033	Cerebellar dysplasia	Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.
HP:0007034	Generalized hyperreflexia	
HP:0007035	Anterior encephalocele	
HP:0007036	Hypoplasia of olfactory tract	
HP:0007039	Symmetric lesions of the basal ganglia	
HP:0007041	Chronic lymphocytic meningitis	Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).
HP:0007042	Focal white matter lesions	
HP:0007045	Midline brain calcifications	
HP:0007047	Atrophy of the dentate nucleus	Partial or complete wasting (loss) of dentate nucleus.
HP:0007048	Large basal ganglia	Increased size of the basal ganglia.
HP:0007052	Multifocal cerebral white matter abnormalities	
HP:0007054	Proximal hyperreflexia	Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).
HP:0007057	Poor hand-eye coordination	
HP:0007058	Generalized cerebral atrophy/hypoplasia	Generalized atrophy or hypoplasia of the cerebrum.
HP:0007063	Aplasia of the inferior half of the cerebellar vermis	
HP:0007064	Progressive language deterioration	Progressive loss of previously present language abilities.
HP:0007065	Disorganization of the anterior cerebellar vermis	
HP:0007066	Proximal limb muscle stiffness	Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.
HP:0007067	Distal peripheral sensory neuropathy	Peripheral sensory neuropathy affecting primarily distal sensation.
HP:0007068	Inferior cerebellar vermis hypoplasia	Underdevelopment of the inferior portion of the vermis of cerebellum.
HP:0007069	Profound static encephalopathy	
HP:0007074	Thick corpus callosum	Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.
HP:0007076	Extrapyramidal muscular rigidity	Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
HP:0007078	Decreased amplitude of sensory action potentials	A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.
HP:0007081	Late-onset muscular dystrophy	
HP:0007082	Dilated third ventricle	An increase in size of the third ventricle.
HP:0007083	Hyperactive patellar reflex	
HP:0007086	Social and occupational deterioration	
HP:0007089	Facial-lingual fasciculations	Fasciculations affecting the tongue muscle and the musculature of the face.
HP:0007096	Hypoplasia of the optic tract	
HP:0007097	Cranial nerve motor loss	
HP:0007098	Paroxysmal choreoathetosis	Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
HP:0007099	Chiari type I malformation	Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
HP:0007100	Progressive ventriculomegaly	
HP:0007103	Hypointensity of cerebral white matter on MRI	A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
HP:0007104	Prolonged somatosensory evoked potentials	
HP:0007105	Infantile encephalopathy	Encephalopathy with onset in the infantile period.
HP:0007107	Segmental peripheral demyelination	A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.
HP:0007108	Demyelinating peripheral neuropathy	Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.
HP:0007109	Periventricular cysts	
HP:0007110	Central hypoventilation	
HP:0007111	Chronic hepatic encephalopathy	
HP:0007112	Temporal cortical atrophy	Atrophy of the temporal cortex.
HP:0007115	Orbital encephalocele	
HP:0007117	Corticospinal tract atrophy	
HP:0007123	Subcortical dementia	A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.
HP:0007126	Proximal amyotrophy	Amyotrophy (muscular atrophy) affecting the proximal musculature.
HP:0007129	Cerebellar medulloblastoma	
HP:0007131	Acute demyelinating polyneuropathy	Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.
HP:0007132	Pallidal degeneration	Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.
HP:0007133	Progressive peripheral neuropathy	
HP:0007141	Sensorimotor neuropathy	
HP:0007146	Bilateral basal ganglia lesions	
HP:0007149	Distal upper limb amyotrophy	Muscular atrophy of distal arm muscles.
HP:0007153	Progressive extrapyramidal movement disorder	
HP:0007156	Asymmetric limb muscle stiffness	Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.
HP:0007158	Progressive extrapyramidal muscular rigidity	A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
HP:0007159	Fluctuations in consciousness	
HP:0007162	Diffuse demyelination of the cerebral white matter	A diffuse loss of myelin from nerve fibers in the central nervous system.
HP:0007164	Slowed slurred speech	
HP:0007165	Periventricular heterotopia	A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.
HP:0007166	Paroxysmal dyskinesia	Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.
HP:0007178	Motor polyneuropathy	
HP:0007179	Absent smooth pursuit	A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
HP:0007181	Interosseus muscle atrophy	Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.
HP:0007182	Peripheral hypomyelination	Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.
HP:0007183	Focal T2 hyperintense basal ganglia lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.
HP:0007185	Loss of consciousness	
HP:0007187	Focal lissencephaly	A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.
HP:0007188	Congenital facial diplegia	Facial diplegia (that is, bilateral facial palsy) with congenital onset.
HP:0007190	Neuronal loss in the cerebral cortex	
HP:0007193	Bilateral tonic-clonic seizure on awakening	Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).
HP:0007199	Progressive spastic paraparesis	
HP:0007200	Episodic hypersomnia	
HP:0007201	Cerebral artery atherosclerosis	The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.
HP:0007204	Diffuse white matter abnormalities	
HP:0007206	Hemimegalencephaly	Enlargement of all or parts of one cerebral hemisphere.
HP:0007207	Photosensitive tonic-clonic seizure	Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.
HP:0007208	Irregular myelin loops	Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.
HP:0007209	Facial paralysis	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
HP:0007210	Lower limb amyotrophy	Muscular atrophy affecting the lower limb.
HP:0007215	Periodic hyperkalemic paralysis	Episodes of muscle weakness associated with elevated levels of potassium in the blood.
HP:0007220	Demyelinating motor neuropathy	Demyelination of peripheral motor nerves.
HP:0007221	Progressive truncal ataxia	
HP:0007227	Macrogyria	Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.
HP:0007229	Intracerebral periventricular calcifications	The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.
HP:0007230	Decreased distal sensory nerve action potential	A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.
HP:0007232	Spinocerebellar tract disease in lower limbs	
HP:0007233	Clusters of axonal regeneration	Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.
HP:0007236	Recurrent subcortical infarcts	
HP:0007238	Nonarteriosclerotic cerebral calcification	
HP:0007239	Congenital encephalopathy	
HP:0007240	Progressive gait ataxia	A type of gait ataxia displaying progression of clinical severity.
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	
HP:0007250	Recurrent external ophthalmoplegia	Alternating and recurrent weakness of the external ocular muscles.
HP:0007256	Abnormal pyramidal sign	Functional neurological abnormalities related to dysfunction of the pyramidal tract.
HP:0007258	Severe demyelination of the white matter	A severe loss of myelin from nerve fibers in the central nervous system.
HP:0007260	Type II lissencephaly	A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.
HP:0007262	Symmetric peripheral demyelination	A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0007263	Spinocerebellar atrophy	Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.
HP:0007265	Absent mesencephalon	Agenesis of the midbrain.
HP:0007266	Cerebral dysmyelination	Defective structure and function of myelin sheaths of the white matter of the brain.
HP:0007267	Chronic axonal neuropathy	An abnormality characterized by chronic impairment of the normal functioning of the axons.
HP:0007268	Aprosencephaly	
HP:0007269	Spinal muscular atrophy	Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
HP:0007270	Atypical absence seizure	An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.
HP:0007271	Occipital myelomeningocele	
HP:0007272	Progressive psychomotor deterioration	
HP:0007274	Recurrent bacterial meningitis	An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.
HP:0007277	Paucity of anterior horn motor neurons	
HP:0007280	Acute infantile spinal muscular atrophy	
HP:0007281	Developmental stagnation	A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.
HP:0007285	Facial palsy secondary to cranial hyperostosis	Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.
HP:0007286	Horizontal jerk nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.
HP:0007289	Limb fasciculations	Fasciculations affecting the musculature of the arms and legs.
HP:0007291	Posterior fossa cyst	A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.
HP:0007293	Anterior sacral meningocele	
HP:0007295	Chaotic rapid conjugate ocular movements	
HP:0007299	Dysfunction of lateral corticospinal tracts	
HP:0007301	Oromotor apraxia	Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.
HP:0007302	Bipolar affective disorder	
HP:0007305	CNS demyelination	A loss of myelin from nerve fibers in the central nervous system.
HP:0007307	Rapid neurologic deterioration	
HP:0007308	Extrapyramidal dyskinesia	
HP:0007311	Short stepped shuffling gait	
HP:0007313	Cerebral degeneration	
HP:0007321	Deep white matter hypodensities	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.
HP:0007325	Generalized dystonia	A type of dystonia that affects all or most of the body.
HP:0007326	Progressive choreoathetosis	
HP:0007327	Mixed demyelinating and axonal polyneuropathy	
HP:0007328	Impaired pain sensation	Reduced ability to perceive painful stimuli.
HP:0007330	Frontal encephalocele	
HP:0007332	Focal hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face.
HP:0007333	Hypoplasia of the frontal lobes	Underdevelopment of the frontal lobe of the cerebrum.
HP:0007334	Bilateral tonic-clonic seizure with focal onset	A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.
HP:0007335	Recurrent encephalopathy	Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.
HP:0007338	Hypermetric saccades	A saccade that overshoots the target with the dynamic saccade.
HP:0007340	Lower limb muscle weakness	Weakness of the muscles of the legs.
HP:0007341	Diffuse swelling of cerebral white matter	
HP:0007343	Abnormal morphology of the limbic system	Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].
HP:0007344	Atrophy/Degeneration involving the spinal cord	
HP:0007346	Subcortical white matter calcifications	
HP:0007348	Hypoplasia of the pyramidal tract	
HP:0007350	Hyperreflexia in upper limbs	
HP:0007351	Upper limb postural tremor	A type of tremors that is triggered by holding an arm in a fixed position.
HP:0007352	Cerebellar calcifications	
HP:0007354	Amyotrophic lateral sclerosis	
HP:0007359	Focal-onset seizure	A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.
HP:0007360	Aplasia/Hypoplasia of the cerebellum	
HP:0007361	Abnormal pons morphology	A structural abnormality of the pons.
HP:0007362	Aplasia/Hypoplasia of the brainstem	
HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	
HP:0007364	Aplasia/Hypoplasia of the cerebrum	
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	
HP:0007366	Atrophy/Degeneration affecting the brainstem	
HP:0007367	Atrophy/Degeneration affecting the central nervous system	
HP:0007369	Atrophy/Degeneration affecting the cerebrum	The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.
HP:0007370	Aplasia/Hypoplasia of the corpus callosum	Absence or underdevelopment of the corpus callosum.
HP:0007371	Corpus callosum atrophy	The presence of atrophy (wasting) of the corpus callosum.
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	
HP:0007373	Motor neuron atrophy	Wasting involving the motor neuron.
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	
HP:0007375	Abnormal septum pellucidum morphology	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.
HP:0007376	Abnormal choroid plexus morphology	An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.
HP:0007377	Abnormality of somatosensory evoked potentials	An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.
HP:0007378	Neoplasm of the gastrointestinal tract	A tumor (abnormal growth of tissue) of the gastrointestinal tract.
HP:0007379	Neoplasm of the genitourinary tract	A tumor (abnormal growth of tissue) of the genitourinary system.
HP:0007380	Facial telangiectasia	Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.
HP:0007381	Congenital exfoliative erythroderma	
HP:0007383	Congenital localized absence of skin	
HP:0007384	Aberrant melanosome maturation	
HP:0007385	Aplasia cutis congenita of scalp	A developmental defect resulting in the congenital absence of skin on the scalp.
HP:0007387	Hypoplastic sweat glands	Underdevelopment of the sweat glands.
HP:0007390	Hyperkeratosis with erythema	
HP:0007392	Excessive wrinkled skin	
HP:0007394	Prominent superficial blood vessels	
HP:0007395	Postnatal-onset ichthyosiform erythroderma	A type of ichthyosiform erythroderma with postnatal onset.
HP:0007396	Early cutaneous photosensitivity	Photosensitivity of the skin occurring early in life.
HP:0007397	Axillary apocrine gland hypoplasia	Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.
HP:0007398	Asymmetric, linear skin defects	
HP:0007400	Irregular hyperpigmentation	
HP:0007401	Macular atrophy	Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
HP:0007402	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines	
HP:0007403	Hypertrophy of skin of soles	
HP:0007404	Nonepidermolytic palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.
HP:0007406	Hyperpigmentation of eyelids	
HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	
HP:0007408	Tegumentary leishmaniasis susceptibility	Increased susceptibility to infection by the protozan parasite of the genus Leishmania.
HP:0007410	Palmoplantar hyperhidrosis	An abnormally increased perspiration on palms and soles.
HP:0007411	Hypoplastic-absent sebaceous glands	
HP:0007412	Macular hyperpigmented dermopathy	
HP:0007413	Nevus flammeus of the forehead	Naevus flammeus localised in the skin of the forehead.
HP:0007414	Neonatal wrinkled skin of hands and feet	
HP:0007417	Discoid lupus rash	Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
HP:0007418	Alopecia totalis	Loss of all scalp hair.
HP:0007420	Spontaneous hematomas	Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
HP:0007421	Telangiectases of the cheeks	Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.
HP:0007425	Hyperextensible skin of face	
HP:0007427	Reticulated skin pigmentation	
HP:0007428	Telangiectasia of the oral mucosa	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.
HP:0007429	Few cafe-au-lait spots	The presence of two to five cafe-au-lait macules.
HP:0007430	Generalized edema	Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
HP:0007431	Congenital ichthyosiform erythroderma	An ichthyosiform abnormality of the skin with congenital onset.
HP:0007432	Intermittent generalized erythematous papular rash	
HP:0007434	Plaque-like facial hemangioma	Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.
HP:0007436	Hair-nail ectodermal dysplasia	
HP:0007437	Multiple cutaneous leiomyomas	The presence of multiple leiomyomas of the skin.
HP:0007438	Mottled pigmentation of the trunk and proximal extremities	
HP:0007439	Generalized keratosis follicularis	
HP:0007440	Generalized hyperpigmentation	
HP:0007441	Hyperpigmented/hypopigmented macules	
HP:0007443	Partial albinism	Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.
HP:0007446	Palmoplantar blistering	A type of blistering that affects the skin of the palms of the hands and the soles of the feet.
HP:0007447	Diffuse palmoplantar hyperkeratosis	Diffuse abnormal thickening of the skin on the palms and soles.
HP:0007448	Hyperkeratosis over edematous areas	
HP:0007449	Confetti-like hypopigmented macules	
HP:0007450	Increased groin pigmentation with raindrop depigmentation	
HP:0007451	Ipsilateral lack of facial sweating	Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.
HP:0007452	Midface capillary hemangioma	
HP:0007453	Flexural lichenification	Lichenification affecting primarily flexural areas of the skin.
HP:0007455	Adermatoglyphia	
HP:0007456	Progressive reticulate hyperpigmentation	
HP:0007457	Prominent veins on trunk	Prominent thoracic and abdominal veins.
HP:0007458	Focal hyperextensible skin	
HP:0007459	Generalized anhidrosis	
HP:0007460	Autoamputation of digits	
HP:0007461	Hemangiomatosis	
HP:0007462	Bitot spots of the conjunctiva	Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.
HP:0007464	Sparse facial hair	Reduced number or density of facial hair.
HP:0007465	Honeycomb palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.
HP:0007466	Midfrontal capillary hemangioma	
HP:0007468	Perifollicular hyperkeratosis	Increased amount of keratin (visible as white scales) surrounding hair follicles.
HP:0007469	Palmoplantar cutis gyrata	Cutis gyrata of palms and soles.
HP:0007470	Periarticular subcutaneous nodules	Subcutaneous nodules that are located in the vicinity of joints.
HP:0007471	Axillary and groin hyperpigmentation and hypopigmentation	
HP:0007473	Crusting erythematous dermatitis	
HP:0007475	Congenital bullous ichthyosiform erythroderma	An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.
HP:0007476	Anhidrotic ectodermal dysplasia	
HP:0007477	Abnormal dermatoglyphics	An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
HP:0007480	Decreased sweating due to autonomic dysfunction	
HP:0007481	Hyperpigmented nevi	
HP:0007482	Generalized papillary lesions	
HP:0007483	Depigmentation/hyperpigmentation of skin	
HP:0007485	Absence of subcutaneous fat	Lack of subcutaneous adipose tissue.
HP:0007486	Cavernous hemangioma of the face	
HP:0007488	Diffuse skin atrophy	
HP:0007489	Diffuse telangiectasia	Telangiectases (small dilated blood vessels) with a diffuse localization.
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	
HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	
HP:0007495	Prematurely aged appearance	
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.
HP:0007499	Recurrent staphylococcal infections	Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.
HP:0007500	Decreased number of sweat glands	The presence of fewer than normal sweat glands.
HP:0007501	Streaks of hyperkeratosis along each finger onto the palm	
HP:0007502	Follicular hyperkeratosis	A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
HP:0007503	Generalized ichthyosis	
HP:0007504	Diffuse slow skin atrophy	
HP:0007505	Progressive hyperpigmentation	
HP:0007506	Congenital absence of skin of limbs	
HP:0007508	Punctate palmar hyperkeratosis	Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.
HP:0007509	Patchy hypo- and hyperpigmentation	
HP:0007510	Focal dermal aplasia/hypoplasia	
HP:0007511	Mottled pigmentation of photoexposed areas	
HP:0007513	Generalized hypopigmentation	
HP:0007514	Edema of the dorsum of hands	An abnormal accumulation of fluid beneath the skin on the back of the hands.
HP:0007515	Hypoplastic pilosebaceous units	
HP:0007516	Redundant skin on fingers	Loose and sagging skin of the fingers.
HP:0007517	Palmoplantar cutis laxa	Loose, wrinkled skin of hands and feet.
HP:0007521	Irregular hyperpigmentation of back	
HP:0007522	Increased number of skin folds	
HP:0007524	Atypical neurofibromatosis	
HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	
HP:0007526	Hypopigmented skin patches on arms	
HP:0007529	Hidrotic ectodermal dysplasia	
HP:0007530	Punctate palmoplantar hyperkeratosis	
HP:0007534	Congenital posterior occipital alopecia	Loss of hair in the occipital region of the scalp with congenital onset.
HP:0007535	Hypopigmented streaks	
HP:0007536	Aplasia cutis congenita of midline scalp vertex	
HP:0007537	Severe photosensitivity	A severe degree of photosensitivity of the skin.
HP:0007541	Frontal cutaneous lipoma	Presence of a cutaneous lipoma on the forehead.
HP:0007542	Absent pigmentation of the ventral chest	Lack of skin pigmentation (coloring) of the anterior chest.
HP:0007543	Epidermal hyperkeratosis	
HP:0007544	Piebaldism	Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.
HP:0007545	Congenital palmoplantar hyperkeratosis	Abnormal thickening of the skin on the palms and soles that is present at birth.
HP:0007546	Linear hyperpigmentation	
HP:0007549	Desquamation of skin soon after birth	
HP:0007550	Hypohidrosis or hyperhidrosis	
HP:0007552	Abnormal subcutaneous fat tissue distribution	
HP:0007553	Congenital symmetrical palmoplantar keratosis	
HP:0007554	Confetti hypopigmentation pattern of lower leg skin	
HP:0007556	Plantar hyperkeratosis	Hyperkeratosis affecting the sole of the foot.
HP:0007559	Localized epidermolytic hyperkeratosis	
HP:0007560	Unusual dermatoglyphics	
HP:0007565	Multiple cafe-au-lait spots	The presence of six or more cafe-au-lait spots.
HP:0007566	Index finger dermatoglyphic radial loop	
HP:0007569	Generalized seborrheic dermatitis	Seborrheic dermatitis that is not localized to any one particular region.
HP:0007570	Hyperkeratosis lenticularis perstans	Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.
HP:0007572	Hyperpigmented streaks	
HP:0007573	Late onset atopic dermatitis	A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.
HP:0007574	Generalized bronze hyperpigmentation	
HP:0007576	Palmar neurofibromas	
HP:0007581	Mediosternal, longitudinal streak of hypopigmentation	
HP:0007583	Telangiectasia macularis eruptiva perstans	
HP:0007585	Skin fragility with non-scarring blistering	
HP:0007586	Telangiectases producing 'marbled' skin	
HP:0007587	Numerous pigmented freckles	
HP:0007588	Reticular hyperpigmentation	Increased pigmentation of the skin with a netlike (reticular) pattern.
HP:0007589	Aplasia cutis congenita on trunk or limbs	A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.
HP:0007590	Aplasia cutis congenita over posterior parietal area	
HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	Absence or developmental hypoplasia of the eccrine sweat glands.
HP:0007595	Redundant skin in infancy	
HP:0007596	Painful subcutaneous lipomas	The presence of multiple subcutaneous lipoma that cause pain.
HP:0007598	Bilateral single transverse palmar creases	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
HP:0007599	Generalized reticulate brown pigmentation	
HP:0007601	Midline facial capillary hemangioma	
HP:0007602	Complex palmar dermatoglyphic pattern	
HP:0007603	Freckles in sun-exposed areas	
HP:0007605	Excessive wrinkling of palmar skin	
HP:0007606	Multiple cutaneous malignancies	
HP:0007607	Hypohidrotic ectodermal dysplasia	
HP:0007608	Abnormal palmar dermal ridges	
HP:0007609	Hypoproteinemic edema	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).
HP:0007610	Blotching pigmentation of the skin	
HP:0007613	Spinous keratoses of palms and soles	
HP:0007616	Nevus flammeus nuchae	Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.
HP:0007617	Fine, reticulate skin pigmentation	
HP:0007618	Subcutaneous calcification	Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
HP:0007620	Cutaneous leiomyoma	The presence of leiomyoma of the skin.
HP:0007621	Telangiectasia of extensor surfaces	
HP:0007623	Pigmentation anomalies of sun-exposed skin	
HP:0007626	Mandibular osteomyelitis	Osteomyelitis of the lower jaw.
HP:0007627	Mandibular condyle aplasia	
HP:0007628	Mandibular condyle hypoplasia	
HP:0007633	Bilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of both eyes.
HP:0007634	Nonarteritic anterior ischemic optic neuropathy	An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.
HP:0007641	Dyschromatopsia	A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
HP:0007642	Congenital stationary night blindness	A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
HP:0007643	Peripheral tractional retinal detachment	Tractional retinal detachment at the periphery of the retina.
HP:0007646	Absent lower eyelashes	Lack of eyelashes on the lower lid.
HP:0007647	Congenital extraocular muscle anomaly	Congenital abnormality of the extraocular muscles.
HP:0007648	Punctate cataract	A type of cataract with punctate opacities of the lens.
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.
HP:0007650	Progressive ophthalmoplegia	
HP:0007651	Ectropion of lower eyelids	
HP:0007655	Eversion of lateral third of lower eyelids	
HP:0007656	Lacrimal gland aplasia	A congenital defect of development characterized by absence of the lacrimal gland.
HP:0007657	Diffuse nuclear cataract	Opacity of the entire lens nucleus.
HP:0007658	Large hyperpigmented retinal spots	
HP:0007661	Abnormality of chorioretinal pigmentation	
HP:0007663	Reduced visual acuity	
HP:0007665	Curly eyelashes	Abnormally curly or curved eyelashes.
HP:0007667	Peripheral cystoid retinal degeneration	Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.
HP:0007668	Impaired pursuit initiation and maintenance	
HP:0007670	Abnormal vestibulo-ocular reflex	An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
HP:0007675	Progressive night blindness	
HP:0007676	Hypoplasia of the iris	Congenital underdevelopment of the iris.
HP:0007677	Vitelliform-like macular lesions	Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.
HP:0007678	Lacrimal duct stenosis	Narrowing of a tear duct (lacrimal duct).
HP:0007680	Depigmented fundus	
HP:0007685	Peripheral retinal avascularization	
HP:0007686	Abnormal pupillary function	A functional abnormality of the pupil.
HP:0007687	Unilateral ptosis	A unilateral form of ptosis.
HP:0007688	Undetectable light- and dark-adapted electroretinogram	Absence of the combined rod-and-cone response on electroretinogram.
HP:0007690	Map-dot-fingerprint corneal dystrophy	
HP:0007695	Abnormal pupillary light reflex	An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
HP:0007697	Hypoplasia of the lower eyelids	Underdevelopment of the lower eyelid.
HP:0007700	Ocular anterior segment dysgenesis	Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
HP:0007703	Abnormality of retinal pigmentation	
HP:0007704	Paroxysmal involuntary eye movements	Sudden-onset episode of abnormal, involuntary eye movements.
HP:0007705	Corneal degeneration	
HP:0007707	Congenital aphakia	Absence of the crystalline lens of the eye as a result of a developmental defect.
HP:0007708	Absent inner eyelashes	
HP:0007709	Band-shaped corneal dystrophy	A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.
HP:0007710	Peripheral vitreous opacities	
HP:0007715	Weak extraocular muscles	
HP:0007716	Uveal melanoma	A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).
HP:0007717	Chronic irritative conjunctivitis	A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.
HP:0007720	Flat cornea	Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
HP:0007721	Saccular conjunctival dilatations	Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.
HP:0007722	Retinal pigment epithelial atrophy	Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
HP:0007727	Opacification of the corneal epithelium	Lack of transparency of the corneal epithelium.
HP:0007728	Congenital miosis	Abnormal (non-physiological) constriction of the pupil of congenital onset.
HP:0007730	Iris hypopigmentation	An abnormal reduction in the amount of pigmentation of the iris.
HP:0007731	Chorioretinal dysplasia	Abnormal development of the choroid and retina.
HP:0007732	Lacrimal gland hypoplasia	Underdevelopment of the lacrimal gland.
HP:0007733	Laterally curved eyebrow	
HP:0007734	Enlarged lacrimal glands	Abnormally big lacrimal glands.
HP:0007737	Bone spicule pigmentation of the retina	Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
HP:0007738	Uncontrolled eye movements	
HP:0007740	Long eyelashes in irregular rows	
HP:0007747	Monocular horizontal nystagmus	
HP:0007750	Hypoplasia of the fovea	Underdevelopment of the fovea centralis.
HP:0007754	Macular dystrophy	Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
HP:0007755	Juvenile epithelial corneal dystrophy	
HP:0007759	Opacification of the corneal stroma	Reduced transparency of the stroma of cornea.
HP:0007760	Crystalline corneal dystrophy	
HP:0007761	Pericentral scotoma	A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.
HP:0007763	Retinal telangiectasia	Dilatation of small blood vessels of the retina.
HP:0007765	Deep anterior chamber	Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.
HP:0007766	Optic disc hypoplasia	Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.
HP:0007768	Central retinal vessel vascular tortuosity	The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).
HP:0007769	Peripheral retinal degeneration	
HP:0007770	Hypoplasia of the retina	
HP:0007772	Impaired smooth pursuit	An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
HP:0007773	Vitreoretinopathy	Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.
HP:0007774	Hypoplasia of the ciliary body	Underdevelopment of the ciliary body.
HP:0007776	Sparse lower eyelashes	
HP:0007777	Chorioretinal scar	Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.
HP:0007778	Posterior retinal neovascularization	A type of retinal neovascularization that affects the posterior pole of the retina.
HP:0007779	Anterior segment of eye aplasia	
HP:0007780	Cortical pulverulent cataract	A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.
HP:0007787	Posterior subcapsular cataract	A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
HP:0007791	Patchy atrophy of the retinal pigment epithelium	Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.
HP:0007792	Microsaccadic pursuit	
HP:0007793	Granular macular appearance	Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.
HP:0007795	Anterior cortical cataract	A cataract that affects the anterior part of the cortex of the lens.
HP:0007797	Retinal vascular malformation	
HP:0007799	Conjunctival whitish salt-like deposits	The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.
HP:0007800	Increased axial length of the globe	Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
HP:0007802	Granular corneal dystrophy	The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.
HP:0007803	Monochromacy	Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
HP:0007807	Optic nerve compression	
HP:0007809	Punctate corneal dystrophy	
HP:0007811	Horizontal pendular nystagmus	Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.
HP:0007812	Herpetiform corneal ulceration	The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.
HP:0007813	Nongranulomatous uveitis	A form of uveitis that is not associated with the formation of granulomas.
HP:0007814	Retinal pigment epithelial mottling	Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
HP:0007815	Abnormal distribution of retinal arterioles and venules	
HP:0007817	Horizontal supranuclear gaze palsy	A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
HP:0007818	Central heterochromia	The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.
HP:0007819	Presenile cataracts	Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.
HP:0007820	Lacrimal punctal atresia	Congenital absence or closure of the opening of the lacrimal punctum.
HP:0007822	Central retinal exudate	
HP:0007824	Total ophthalmoplegia	Paralysis of both the extrinsic and intrinsic ocular muscles.
HP:0007827	Nodular corneal dystrophy	
HP:0007830	Adult-onset night blindness	Inability to see well at night or in poor light with onset in adulthood.
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.
HP:0007832	Pigmentation of the sclera	
HP:0007833	Anterior chamber synechiae	
HP:0007834	Progressive cataract	A kind of cataract that progresses with age.
HP:0007835	S-shaped palpebral fissures	
HP:0007836	Mosaic corneal dystrophy	
HP:0007838	Progressive ptosis	A progressive form of ptosis.
HP:0007840	Long upper eyelashes	Increased length of the upper eyelashes.
HP:0007841	Amyloid deposition in the vitreous humor	Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.
HP:0007843	Attenuation of retinal blood vessels	
HP:0007850	Retinal vascular proliferation	
HP:0007854	Glaucomatous visual field defect	
HP:0007856	Punctate opacification of the cornea	Punctate opacification (reduced transparency) of the corneal stroma.
HP:0007858	Chorioretinal lacunae	Punched out lesions in the pigmented layer of the retina.
HP:0007859	Congenital horizontal nystagmus	Horizontal nystagmus dating from or present at birth.
HP:0007862	Retinal calcification	Deposition of calcium salts in the retina.
HP:0007866	Retinal infarction	
HP:0007867	Restrictive partial external ophthalmoplegia	Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.
HP:0007872	Choroidal hemangioma	The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.
HP:0007873	Abnormally prominent line of Schwalbe	
HP:0007874	Almond-shaped palpebral fissure	A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
HP:0007875	Congenital blindness	Blindness with onset at birth.
HP:0007879	Allergic conjunctivitis	Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.
HP:0007880	Marginal corneal dystrophy	
HP:0007881	Central corneal dystrophy	
HP:0007885	Slowed horizontal saccades	An abnormally slow velocity of horizontal saccadic eye movements.
HP:0007886	Absent extraocular muscles	Congenital absence of the extraocular muscles.
HP:0007889	Iridescent posterior subcapsular cataract	A type of posterior subcapsular cataract characterized by an iridescent color.
HP:0007892	Hypoplasia of the lacrimal punctum	Underdevelopment of the lacrimal puncta.
HP:0007894	Hypopigmentation of the fundus	Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
HP:0007898	Exudative retinopathy	
HP:0007899	Retinal nonattachment	Failure of attachment of the retina during development.
HP:0007900	Hypoplastic lacrimal duct	
HP:0007902	Vitreous hemorrhage	Bleeding within the vitreous compartment of the eye.
HP:0007903	Paravenous chorioretinal atrophy	Chorioretinal atrophy along the retinal veins.
HP:0007905	Abnormal iris vasculature	
HP:0007906	Ocular hypertension	Intraocular pressure that is 2 standard deviations above the population mean.
HP:0007911	Congenital bilateral ptosis	
HP:0007913	Reticular retinal dystrophy	A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.
HP:0007915	Polymorphous posterior corneal dystrophy	This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.
HP:0007917	Tractional retinal detachment	A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.
HP:0007922	Hypermyelinated retinal nerve fibers	
HP:0007924	Slow decrease in visual acuity	
HP:0007925	Lacrimal duct aplasia	A congenital defect resulting in absence of the lacrimal duct.
HP:0007928	Abnormal flash visual evoked potentials	Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.
HP:0007929	Peripheral retinal detachment	Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.
HP:0007932	Bilateral congenital mydriasis	Congenital abnormal dilation of the pupil on both sides.
HP:0007933	Broad lateral eyebrow	Regional increase in the width (height) of the lateral eyebrow.
HP:0007935	Juvenile posterior subcapsular lenticular opacities	
HP:0007936	Restrictive external ophthalmoplegia	Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.
HP:0007937	Reticular pigmentary degeneration	A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.
HP:0007939	Blue cone monochromacy	A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.
HP:0007941	Limited extraocular movements	Limited mobility of the eye within its socket.
HP:0007942	Internal ophthalmoplegia	Paralysis of the iris and ciliary apparatus.
HP:0007943	Congenital stapes ankylosis	A form of stapes ankylosis with congenital onset.
HP:0007944	Intermittent microsaccadic pursuits	
HP:0007946	Unilateral narrow palpebral fissure	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.
HP:0007947	Pericentral retinitis pigmentosa	A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.
HP:0007948	Dense posterior cortical cataract	A type of posterior cortical cataract characterized by dense lenticular opacities.
HP:0007950	Peripapillary chorioretinal atrophy	Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).
HP:0007957	Corneal opacity	A reduction of corneal clarity.
HP:0007958	Optic atrophy from cranial nerve compression	
HP:0007962	Speckled corneal dystrophy	
HP:0007963	Pattern dystrophy of the retina	A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).
HP:0007964	Degenerative vitreoretinopathy	
HP:0007965	Undetectable visual evoked potentials	
HP:0007968	Remnants of the hyaloid vascular system	Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
HP:0007970	Congenital ptosis	
HP:0007971	Lamellar cataract	A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.
HP:0007973	Retinal dysplasia	The presence of developmental dysplasia of the retina.
HP:0007975	Hypometric horizontal saccades	Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
HP:0007976	Cerulean cataract	Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.
HP:0007979	Gaze-evoked horizontal nystagmus	Horizontal nystagmus made apparent by looking to the right or to the left.
HP:0007980	Absent retinal pigment epithelium	
HP:0007984	Electronegative electroretinogram	A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).
HP:0007985	Retinal arteriolar occlusion	Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.
HP:0007986	Increased retinal vascularity	
HP:0007987	Progressive visual field defects	
HP:0007988	Macular hypopigmentation	Decreased amount of pigmentation in the macula lutea.
HP:0007989	Intraretinal exudate	Retinal exudate within the retinal tissue itself.
HP:0007990	Hypoplastic iris stroma	Underdevelopment of the stroma of iris.
HP:0007992	Lattice retinal degeneration	
HP:0007993	Malformed lacrimal duct	Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.
HP:0007994	Peripheral visual field loss	Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
HP:0008000	Decreased corneal reflex	An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
HP:0008001	Foveal hyperpigmentation	Increased amount of pigmentation in the fovea centralis.
HP:0008002	Abnormality of macular pigmentation	Abnormality of macular or foveal pigmentation.
HP:0008003	Jerky ocular pursuit movements	
HP:0008007	Primary congenital glaucoma	
HP:0008009	Three rows of eyelashes	
HP:0008011	Peripheral opacification of the cornea	Reduced transparency of the peripheral region of the cornea.
HP:0008014	Central fundal arteriolar microaneurysms	Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.
HP:0008019	Superior lens subluxation	Partial dislocation of the lens in a superior direction.
HP:0008020	Cone dystrophy	Inherited progressive cone degeneration.
HP:0008026	Horizontal opticokinetic nystagmus	
HP:0008028	Cystoid macular degeneration	A form of macular degeneration characterized by the presence of multiple cysts in the macula.
HP:0008030	Retinal arteritis	
HP:0008031	Posterior Y-sutural cataract	A type of sutural cataract in which the opacity follows the posterior Y suture.
HP:0008034	Abnormal iris pigmentation	Abnormal pigmentation of the iris.
HP:0008035	Retinitis pigmentosa inversa	Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).
HP:0008037	Absent anterior chamber of the eye	Absence of the anterior chamber of the eye owing to a developmental defect.
HP:0008038	Aplastic/hypoplastic lacrimal glands	Absence or underdevelopment of the lacrimal gland.
HP:0008039	Subepithelial corneal opacities	
HP:0008041	Late onset congenital glaucoma	
HP:0008043	Retinal arteriolar constriction	Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
HP:0008045	Enlarged flash visual evoked potentials	
HP:0008046	Abnormal retinal vascular morphology	A structural abnormality of retinal vasculature.
HP:0008047	Abnormality of the vasculature of the eye	
HP:0008048	Abnormal line of Schwalbe morphology	An abnormality of the line of Schwalbe.
HP:0008049	Abnormality of the extraocular muscles	An abnormality of an extraocular muscle.
HP:0008050	Abnormality of the palpebral fissures	An anomaly of the space between the medial and lateral canthi of the two open eyelids.
HP:0008052	Retinal fold	A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
HP:0008053	Aplasia/Hypoplasia of the iris	Absence or underdevelopment of the iris.
HP:0008054	Abnormal morphology of the conjunctival vasculature	Any abnormality of the blood vessels of the conjunctiva.
HP:0008055	Aplasia/Hypoplasia affecting the uvea	Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
HP:0008056	Aplasia/Hypoplasia affecting the eye	
HP:0008057	Aplasia/Hypoplasia affecting the fundus	
HP:0008058	Aplasia/Hypoplasia of the optic nerve	
HP:0008059	Aplasia/Hypoplasia of the macula	
HP:0008060	Aplasia/Hypoplasia of the fovea	Congenital absence or underdevelopment of the fovea centralis.
HP:0008061	Aplasia/Hypoplasia of the retina	
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	Absence or underdevelopment of the anterior segment of the eye.
HP:0008063	Aplasia/Hypoplasia of the lens	Absence or underdevelopment of the lens.
HP:0008064	Ichthyosis	An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
HP:0008065	Aplasia/Hypoplasia of the skin	
HP:0008066	Abnormal blistering of the skin	The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
HP:0008067	Abnormally lax or hyperextensible skin	
HP:0008069	Neoplasm of the skin	A tumor (abnormal growth of tissue) of the skin.
HP:0008070	Sparse hair	Reduced density of hairs.
HP:0008071	Maternal hypertension	Increased blood pressure during a pregnancy.
HP:0008072	Maternal virilization in pregnancy	Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.
HP:0008073	Low maternal circulating estriol concentration	An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.
HP:0008074	Metatarsal periosteal thickening	
HP:0008075	Progressive pes cavus	The development of Pes cavus that is progressive with age.
HP:0008076	Osteoporotic tarsals	Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
HP:0008078	Thin metatarsal cortices	
HP:0008079	Absent fifth metatarsal	A developmental abnormality characterized by the absence of the fifth metatarsal bone.
HP:0008080	Hallux varus	Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
HP:0008081	Pes valgus	An outward deviation of the foot at the talocalcaneal or subtalar joint.
HP:0008082	Medial deviation of the foot	
HP:0008083	2nd-5th toe middle phalangeal hypoplasia	
HP:0008087	Nonossified fifth metatarsal	The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.
HP:0008089	Abnormality of the fifth metatarsal bone	An anomaly of the fifth metatarsal bone.
HP:0008090	Ankylosis of feet small joints	
HP:0008093	Short 4th toe	Underdevelopment (hypoplasia) of the fourth toe.
HP:0008094	Widely spaced toes	An overall widening of the spaces between the digits.
HP:0008095	Osteolysis of talus	Osteolysis affecting the talus.
HP:0008096	Medially deviated second toe	Medial deviation of the second toe.
HP:0008097	Partial fusion of tarsals	
HP:0008102	Expanded metatarsals with widened medullary cavities	
HP:0008103	Delayed tarsal ossification	Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
HP:0008107	Plantar crease between first and second toes	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.
HP:0008108	Advanced tarsal ossification	Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
HP:0008110	Equinovarus deformity	
HP:0008111	Broad distal hallux	
HP:0008112	Plantar flexion contracture	A type of contracture in which the plantar flexion muscles are contracted.
HP:0008113	Multiple plantar creases	
HP:0008114	Metatarsal diaphyseal endosteal sclerosis	Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.
HP:0008115	Clinodactyly of the 3rd toe	Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).
HP:0008116	Flexion limitation of toes	Limitation of the ability to bend the toes.
HP:0008117	Shortening of the talar neck	
HP:0008119	Deformed tarsal bones	
HP:0008122	Calcaneonavicular fusion	Synostosis of the calcaneus with the navicular bone.
HP:0008124	Talipes calcaneovarus	A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.
HP:0008125	Second metatarsal posteriorly placed	
HP:0008127	Bipartite calcaneus	A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.
HP:0008131	Tarsal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.
HP:0008132	Medial rotation of the medial malleolus	
HP:0008133	Distal tapering of metatarsals	
HP:0008134	Irregular tarsal ossification	Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
HP:0008138	Equinus calcaneus	Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.
HP:0008141	Dislocation of toes	
HP:0008142	Delayed calcaneal ossification	Delayed maturation and calcification of the calcaneus.
HP:0008144	Flattening of the talar dome	
HP:0008148	Impaired epinephrine-induced platelet aggregation	Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
HP:0008150	Elevated serum transaminases during infections	Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.
HP:0008151	Prolonged prothrombin time	Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
HP:0008153	Periodic hypokalemic paresis	Episodes of muscle weakness associated with reduced levels of potassium in the blood.
HP:0008155	Mucopolysacchariduria	Excessive amounts of mucopolysaccharide in the urine.
HP:0008158	Hyperapobetalipoproteinemia	Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.
HP:0008160	3-hydroxydicarboxylic aciduria	An increase in the level of 3-hydroxydicarboxylic acid in the urine.
HP:0008161	Absent leukocyte alkaline phosphatase	Alkaline phosphatase levels measured within leukocytes is below detectable levels.
HP:0008162	Asymptomatic hyperammonemia	An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.
HP:0008163	Decreased circulating cortisol level	Abnormally reduced concentration of cortisol in the blood.
HP:0008165	Decreased helper T cell proportion	Reduced proportion of helper T cells relative to the total number of T cells.
HP:0008166	Decreased beta-galactosidase activity	Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.
HP:0008167	Very long chain fatty acid accumulation	
HP:0008169	Reduced factor VII activity	Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.
HP:0008176	Neonatal unconjugated hyperbilirubinemia	
HP:0008178	Abnormal cartilage matrix	
HP:0008179	Decreased Arden ratio of electrooculogram	An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.
HP:0008180	Mildly elevated creatine kinase	
HP:0008181	Abetalipoproteinemia	An absence of low-density lipoprotein cholesterol in the blood.
HP:0008182	Adrenocortical hypoplasia	
HP:0008185	Precocious puberty in males	The onset of puberty before the age of 9 years in boys.
HP:0008186	Adrenocortical cytomegaly	The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.
HP:0008187	Absence of secondary sex characteristics	No secondary sexual characteristics are present at puberty.
HP:0008188	Thyroid dysgenesis	
HP:0008189	Insulin insensitivity	Decreased sensitivity toward insulin.
HP:0008191	Thyroid agenesis	The congenital absence of the thyroid gland.
HP:0008193	Primary gonadal insufficiency	
HP:0008194	Multiple pancreatic beta-cell adenomas	The presence of multiple pancreatic islet cell adenomas.
HP:0008197	Absence of pubertal development	
HP:0008198	Congenital hypoparathyroidism	Deficiency of parathyroid hormone with congenital onset.
HP:0008200	Primary hyperparathyroidism	A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.
HP:0008202	Reduced circulating prolactin concentration	A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
HP:0008204	Precocious puberty with Sertoli cell tumor	
HP:0008205	Insulin-dependent but ketosis-resistant diabetes	Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.
HP:0008207	Primary adrenal insufficiency	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
HP:0008208	Parathyroid hyperplasia	Hyperplasia of the parathyroid gland.
HP:0008209	Premature ovarian insufficiency	Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
HP:0008211	Parathyroid agenesis	Aplasia of the parathyroid gland.
HP:0008213	Gonadotropin deficiency	A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).
HP:0008214	Decreased serum estradiol	A reduction below normal concentration of estradiol in the circulation.
HP:0008216	Adrenal gland dysgenesis	Abnormal development of the adrenal gland.
HP:0008221	Adrenal hyperplasia	Enlargement of the adrenal gland.
HP:0008222	Female infertility	
HP:0008223	Compensated hypothyroidism	Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).
HP:0008225	Thyroid follicular hyperplasia	
HP:0008226	Androgen insufficiency	Insufficient amount of androgenic activity.
HP:0008227	Pituitary resistance to thyroid hormone	A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.
HP:0008229	Thyroid lymphangiectasia	The presence of lymphangiectasis of the thyroid gland.
HP:0008231	Macronodular adrenal hyperplasia	
HP:0008232	Elevated circulating follicle stimulating hormone level	An elevated concentration of follicle-stimulating hormone in the blood.
HP:0008233	Decreased circulating progesterone	An reduced concentration of progesterone in the blood.
HP:0008236	Isosexual precocious puberty	
HP:0008237	Hypothalamic hypothyroidism	A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.
HP:0008239	Adrenal medullary hypoplasia	Developmental hypoplasia of the adrenal medulla.
HP:0008240	Secondary growth hormone deficiency	
HP:0008242	Pseudohypoaldosteronism	A state of renal tubular unresponsiveness or resistance to the action of aldosterone.
HP:0008244	Congenital adrenal hypoplasia	A type of adrenal hypoplasia with congenital onset.
HP:0008245	Pituitary hypothyroidism	A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.
HP:0008247	Euthyroid hyperthyroxinemia	Increased levels of thyroxine without evidence of clinical thyroid disease.
HP:0008249	Thyroid hyperplasia	Hyperplasia of the thyroid gland.
HP:0008251	Congenital goiter	An enlargement of the thyroid gland with congenital onset.
HP:0008255	Transient neonatal diabetes mellitus	
HP:0008256	Adrenocortical adenoma	Adrenocortical adenomas are benign tumors of the adrenal cortex.
HP:0008258	Congenital adrenal hyperplasia	A type of adrenal hyperplasia with congenital onset.
HP:0008259	Adrenocorticotropin receptor defect	Adrenal insufficiency secondary to a defect in the ACTH receptor.
HP:0008261	Pancreatic islet cell adenoma	The presence of an adenoma of the pancreas with origin in a pancreatic B cell.
HP:0008263	Thyroid defect in oxidation and organification of iodide	
HP:0008264	Neutrophil inclusion bodies	The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.
HP:0008265	Mitochondrial lysine transport defect	
HP:0008269	Increased red cell hemolysis by shear stress	
HP:0008271	Abnormal cartilage collagen	Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.
HP:0008272	Renal tubular lysine transport defect	
HP:0008273	Transient aminoaciduria	
HP:0008275	Abnormal light-adapted electroretinogram	
HP:0008277	Abnormal blood zinc concentration	An abnormality of zinc ion homeostasis.
HP:0008278	Cerebellar cortical atrophy	Atrophy (wasting) of the cerebellar cortex.
HP:0008279	Transient hyperlipidemia	
HP:0008281	Acute hyperammonemia	An increased concentration of ammonia in the blood with sudden onset.
HP:0008282	Unconjugated hyperbilirubinemia	An increased amount of unconjugated (indirect) bilurubin in the blood.
HP:0008283	Fasting hyperinsulinemia	An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.
HP:0008285	Transient hypophosphatemia	
HP:0008288	Nonketotic hyperglycinemia	
HP:0008290	Partial complement factor H deficiency	A partial reduction in level of the complement component Factor H in circulation.
HP:0008291	Pituitary corticotropic cell adenoma	A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).
HP:0008293	Long-chain dicarboxylic aciduria	An increase in the level of long-chain dicarboxylic acid in the urine.
HP:0008297	Transient hyperphenylalaninemia	A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).
HP:0008301	Dermatan sulfate excretion in urine	An increased concentration of dermatan sulfate in the urine.
HP:0008303	Olivary degeneration	Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.
HP:0008305	Exercise-induced myoglobinuria	Presence of myoglobin in the urine following exercise.
HP:0008306	Abnormal iron deposition in mitochondria	
HP:0008309	Medium chain dicarboxylic aciduria	An increase in the level of medium chain dicarboxylic acid in the urine.
HP:0008311	Spinal cord posterior columns myelin loss	
HP:0008314	Decreased activity of mitochondrial complex II	A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.
HP:0008315	Decreased plasma free carnitine	A decreased concentration of free (unbound) carnitine in the blood.
HP:0008316	Abnormal mitochondria in muscle tissue	An abnormality of the mitochondria in muscle tissue.
HP:0008318	Elevated leukocyte alkaline phosphatase	Increased alkaline phosphatase measured within leukocytes.
HP:0008320	Impaired collagen-induced platelet aggregation	Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
HP:0008321	Reduced factor X activity	Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).
HP:0008322	Abnormal mitochondrial morphology	Any structural anomaly of the mitochondria.
HP:0008323	Abnormal light- and dark-adapted electroretinogram	An abnormality of the combined rod-and-cone response on electroretinogram.
HP:0008326	Reduced circulating vitamin B6 level	An abnormally decreased concentration of vitamin B6 in the blood circulation.
HP:0008327	Microscopic nephrocalcinosis	The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.
HP:0008330	Reduced von Willebrand factor activity	Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
HP:0008331	Elevated creatine kinase after exercise	
HP:0008336	Complex organic aciduria	
HP:0008338	Partial functional complement factor D deficiency	A partial reduction in level of the complement component Factor D in circulation.
HP:0008339	Diaminoaciduria	An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).
HP:0008341	Distal renal tubular acidosis	A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.
HP:0008344	Elevated plasma branched chain amino acids	An increased concentration of a branched chain amino acid in the blood.
HP:0008345	Hypoplasia of the iris dilator muscle	Underdevelopment of the dilatator pupillae.
HP:0008346	Increased red cell sickling tendency	
HP:0008347	Decreased activity of mitochondrial complex IV	A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
HP:0008348	Decreased circulating IgG2 level	A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.
HP:0008352	Impaired platelet adhesion	An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.
HP:0008353	Neutral hyperaminoaciduria	The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.
HP:0008354	Factor X activation deficiency	Reduced ability to transform factor X into its activated form factor Xa.
HP:0008357	Reduced factor XIII activity	Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
HP:0008358	Hyperprolinemia	An increased concentration of proline in the blood.
HP:0008360	Neonatal hypoproteinemia	A neonatal decreased concentration of proteins in the blood.
HP:0008361	Corticospinal tract pallor	
HP:0008362	Aplasia/Hypoplasia of the hallux	Absence or underdevelopment of the big toe.
HP:0008363	Aplasia/Hypoplasia of the tarsal bones	Absence or underdevelopment of the tarsal bones.
HP:0008364	Abnormality of the calcaneus	An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.
HP:0008365	Abnormal talus morphology	An abnormality of the talus.
HP:0008366	Foot joint contracture	Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.
HP:0008368	Tarsal synostosis	Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
HP:0008369	Abnormal tarsal ossification	An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
HP:0008371	Abnormal metatarsal ossification	Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.
HP:0008372	Abnormality of vitamin A metabolism	
HP:0008373	Puberty and gonadal disorders	
HP:0008376	Nasal, dysarthic speech	
HP:0008383	Slow-growing nails	Nails whose growth is slower than normal.
HP:0008386	Aplasia/Hypoplasia of the nails	Aplasia or developmental hypoplasia of the nail.
HP:0008388	Abnormal toenail morphology	An anomaly of the toenail.
HP:0008390	Recurrent loss of toenails and fingernails	Repeated loss, or shedding, of the nails of the fingers and toes.
HP:0008391	Dystrophic fingernails	The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.
HP:0008392	Subungual hyperkeratosis	A thickening of the stratum corneum in the region beneath the nails.
HP:0008393	Congenital curved nail of fourth toe	
HP:0008394	Congenital onychodystrophy	
HP:0008396	Chronic monilial nail infection	Chronic infection of the nails by Candida species.
HP:0008398	Hypoplastic fifth fingernail	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.
HP:0008399	Circumungual hyperkeratosis	A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.
HP:0008400	Onycholysis of distal fingernails	Detachment of the distal fingernails from the nail bed.
HP:0008401	Onychogryposis of toenails	Thickened toenails.
HP:0008402	Ridged fingernail	Longitudinal, linear prominences in the fingernail plate.
HP:0008404	Nail dystrophy	Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
HP:0008407	Hyperconvex thumb nails	
HP:0008410	Subungual hyperkeratotic fragments	
HP:0008414	Lumbar kyphosis in infancy	
HP:0008416	Six lumbar vertebrae	
HP:0008417	Vertebral hypoplasia	Small, underdeveloped vertebral bodies.
HP:0008418	Squared-off platyspondyly	
HP:0008419	Intervertebral disc degeneration	The presence of degenerative changes of intervertebral disk.
HP:0008420	Punctate vertebral calcifications	The presence of punctiform calcification of the bone of the vertebral bodies.
HP:0008421	Tall lumbar vertebral bodies	
HP:0008422	Vertebral wedging	An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
HP:0008423	Spinal dysplasia	The presence of developmental dysplasia of the vertebral column.
HP:0008424	Hypoplastic 5th lumbar vertebrae	
HP:0008425	Cuboid-shaped thoracolumbar vertebral bodies	
HP:0008428	Vertebral clefting	Schisis (cleft or cleavage) of vertebral bodies.
HP:0008430	Anterior beaking of lumbar vertebrae	Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
HP:0008432	Anterior wedging of L1	An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).
HP:0008433	Reversed usual vertebral column curves	
HP:0008434	Hypoplastic cervical vertebrae	
HP:0008435	Absent in utero ossification of vertebral bodies	
HP:0008436	Absent/hypoplastic coccyx	
HP:0008437	Bifid thoracic vertebrae	
HP:0008438	Vertebral arch anomaly	A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.
HP:0008439	Lumbar hemivertebrae	Absence of one half of the vertebral body in the lumbar spine.
HP:0008440	C1-C2 vertebral abnormality	Any abnormality of the atlas and the axis.
HP:0008441	Herniation of intervertebral nuclei	The presence of one or more herniated nucleus pulposus of intervertebral disk.
HP:0008442	Vertebral hyperostosis	Excessive growth of the bones of the vertebral bodies.
HP:0008443	Neuropathic spinal arthropathy	A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.
HP:0008444	Posterior wedging of vertebral bodies	An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).
HP:0008445	Cervical spinal canal stenosis	An abnormal narrowing of the cervical spinal canal.
HP:0008447	Hypoplastic coccygeal vertebrae	
HP:0008449	Progressive cervical vertebral spine fusion	
HP:0008450	Narrow vertebral interpedicular distance	A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
HP:0008451	Posterior vertebral hypoplasia	
HP:0008452	Wafer-thin platyspondyly	
HP:0008453	Congenital kyphoscoliosis	
HP:0008454	Lumbar kyphosis	Over curvature of the lumbar region.
HP:0008455	Dysplastic sacrum	A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.
HP:0008456	C2-C3 subluxation	A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.
HP:0008457	Caudal interpedicular narrowing	Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.
HP:0008458	Progressive congenital scoliosis	A progressive form of scoliosis with congenital onset.
HP:0008459	Cervical vertebral agenesis	Agenesis of one or more vertebrae of the cervical vertebral column.
HP:0008460	Hypoplastic spinal processes	
HP:0008461	Cervical vertebral facet hypoplasia	
HP:0008462	Cervical instability	
HP:0008463	Central vertebral hypoplasia	
HP:0008464	Absent spinous processes of lower thoracic and lumbar vertebrae	
HP:0008465	Absent vertebra	A developmental defect characterized by agenesis of one or more vertebral bodies.
HP:0008467	Thoracic hemivertebrae	Absence of one half of the vertebral body in the thoracic spine.
HP:0008468	Abnormal sacral segmentation	An abnormality related to a defect of vertebral separation of sacral vertebrae during development.
HP:0008469	Cervical vertebral dysplasia	Dysplasia of the cervical vertebral column.
HP:0008470	Lower thoracic interpediculate narrowness	A reduction of the distance between the lower thoracic vertebral pedicles.
HP:0008472	Prominent protruding coccyx	
HP:0008473	Narrow anterio-posterior vertebral body diameter	An abnormal reduction of the anterioposterior diameter of the vertebral body.
HP:0008475	Hypoplastic sacral vertebrae	
HP:0008476	Irregular sclerotic endplates	
HP:0008477	Poorly ossified cervical vertebrae	Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.
HP:0008478	Scheuermann-like vertebral changes	
HP:0008479	Hypoplastic vertebral bodies	
HP:0008480	Cervical spondylosis	The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.
HP:0008482	Asymmetry of spinal facet joints	
HP:0008483	Cervical vertebral bodies with decreased anteroposterior diameter	
HP:0008484	Thoracolumbar interpediculate narrowness	A reduction of the distance between thoracolumbar vertebral pedicles.
HP:0008486	Lumbar interpedicular narrowing	Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.
HP:0008488	Anterior rounding of vertebral bodies	
HP:0008489	Spondylolisthesis at L5-S1	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).
HP:0008490	Sacral segmentation defect	
HP:0008491	Premature anterior fontanel closure	Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
HP:0008494	Inferior lens subluxation	Partial displacement of the lens in the inferior direction.
HP:0008496	Multiple rows of eyelashes	
HP:0008497	Congenital craniofacial dysostosis	
HP:0008498	No permanent dentition	
HP:0008499	High hypermetropia	A severe form of hypermetropia with over +5.00 diopters.
HP:0008501	Median cleft lip and palate	Cleft lip or palate affecting the midline region of the palate.
HP:0008504	Moderate sensorineural hearing impairment	The presence of a moderate form of sensorineural hearing impairment.
HP:0008507	Static ophthalmoparesis	
HP:0008509	Aged leonine appearance	
HP:0008511	Central posterior corneal opacity	Reduced transparency of the central posterior portion of the corneal stroma.
HP:0008513	Bilateral conductive hearing impairment	A bilateral type of conductive hearing impairment.
HP:0008515	Aplasia/Hypoplasia of the vertebrae	
HP:0008516	Abnormality of the vertebral spinous processes	
HP:0008517	Aplasia/Hypoplasia of the sacrum	Aplasia or developmental hypoplasia of the sacral bone.
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	
HP:0008519	Abnormal coccyx morphology	Any structural abnormality of the coccyx.
HP:0008523	Posterior helix pit	Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.
HP:0008527	Congenital sensorineural hearing impairment	A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
HP:0008528	Long hairs growing from helix of pinna	
HP:0008529	Absence of acoustic reflex	Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.
HP:0008537	Cleft at the superior portion of the pinna	
HP:0008541	Superiorly displaced ears	
HP:0008542	Low-frequency hearing loss	A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).
HP:0008544	Abnormally folded helix	Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.
HP:0008551	Microtia	Underdevelopment of the external ear.
HP:0008554	Cochlear malformation	The presence of a malformed cochlea.
HP:0008555	Absent vestibular function	Complete lack of functioning of the vestibular apparatus.
HP:0008559	Hypoplastic superior helix	
HP:0008568	Vestibular areflexia	Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.
HP:0008569	Microtia, second degree	Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.
HP:0008572	External ear malformation	A malformation of the auricle of the ear.
HP:0008573	Low-frequency sensorineural hearing impairment	A form of sensorineural hearing impairment that affects primarily the lower frequencies.
HP:0008577	Underfolded helix	Underdevelopment of the helix that either affects the entire helix, or is localized.
HP:0008583	Underfolded superior helices	A condition in which the superior portion of the helix is folded over to a lesser degree than normal.
HP:0008586	Hypoplasia of the cochlea	Developmental hypoplasia of the cochlea.
HP:0008587	Mild neurosensory hearing impairment	The presence of a mild form of sensorineural hearing impairment.
HP:0008588	Slit-like opening of the exterior auditory meatus	A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.
HP:0008589	Hypoplastic helices	Underdevelopment of the helix, i.e., of the outer rim of the pinna.
HP:0008591	Congenital conductive hearing impairment	A type of conductive deafness with congenital onset.
HP:0008593	Prominent antitragus	Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
HP:0008596	Postlingual sensorineural hearing impairment	A form of sensorineural hearing impairment with onset after the acquisition of speech.
HP:0008598	Mild conductive hearing impairment	A mild form of conductive hearing impairment.
HP:0008605	Unilateral external ear deformity	
HP:0008606	Supraauricular pit	Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.
HP:0008607	Progressive conductive hearing impairment	A progressive type of conductive deafness.
HP:0008608	Hypertrophic auricular cartilage	
HP:0008609	Morphological abnormality of the middle ear	An abnormality of the morphology or structure of the middle ear.
HP:0008610	Infantile sensorineural hearing impairment	A form of sensorineural hearing impairment with infantile onset.
HP:0008615	Adult onset sensorineural hearing impairment	The presence of sensorineural deafness with late onset.
HP:0008619	Bilateral sensorineural hearing impairment	A bilateral form of sensorineural hearing impairment.
HP:0008625	Severe sensorineural hearing impairment	A severe form of sensorineural hearing impairment.
HP:0008628	Abnormality of the stapes	An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.
HP:0008629	Pulsatile tinnitus	Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.
HP:0008631	Ureteral dysgenesis	A developmental anomaly of the ureter.
HP:0008633	Agonadism	Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).
HP:0008635	Hypertrophy of the urinary bladder	Abnormal enlargement of the urinary bladder.
HP:0008636	Lobular glomerulopathy	
HP:0008639	Gonadal hypoplasia	
HP:0008640	Congenital macroorchidism	
HP:0008643	Nephroblastomatosis	Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.
HP:0008647	Pubertal developmental failure in females	
HP:0008648	Anteriorly displaced urethral meatus	
HP:0008651	Uric acid urolithiasis independent of gout	
HP:0008652	Autonomic erectile dysfunction	Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.
HP:0008653	Crescentic glomerulonephritis	A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	Aplasia or developmental hypoplasia of the fallopian tube.
HP:0008656	Incomplete male pseudohermaphroditism	
HP:0008659	Multiple small medullary renal cysts	The presence of many cysts in the medulla of the kidney.
HP:0008660	Renotubular dysgenesis	A developmental defect characterized by absence or poor development of proximal renal tubules.
HP:0008661	Urethral stenosis	Abnormal narrowing of the urethra.
HP:0008663	Renal sarcoma	A sarcoma of the kidney.
HP:0008664	Urethral sphincter sclerosis	
HP:0008665	Clitoral hypertrophy	Hypertrophy of the clitoris.
HP:0008666	Impaired histidine renal tubular absorption	
HP:0008668	Gonadal dysgenesis, male	Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.
HP:0008669	Abnormal spermatogenesis	Incomplete maturation or aberrant formation of the male gametes.
HP:0008670	Partial vaginal septum	
HP:0008672	Calcium oxalate nephrolithiasis	The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.
HP:0008675	Enlarged polycystic ovaries	
HP:0008676	Congenital megaureter	A developmental disturbance with extreme ureteral dilatation.
HP:0008677	Congenital nephrotic syndrome	Nephrotic syndrome with onset within the first three months of life.
HP:0008678	Renal hypoplasia/aplasia	Absence or underdevelopment of the kidney.
HP:0008682	Renal tubular epithelial necrosis	Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).
HP:0008683	Enlarged labia minora	Increase in size of the folds of skin between the outer labia.
HP:0008684	Aplasia/hypoplasia of the uterus	Absence or developmental hypoplasia of the uterus.
HP:0008687	Hypoplasia of the prostate	
HP:0008689	Bilateral cryptorchidism	Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0008691	Solitary bladder diverticulum	Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.
HP:0008695	Transient nephrotic syndrome	
HP:0008696	Renal hamartoma	A disordered proliferation of mature tissues that are native to the kidneys.
HP:0008697	Hypoplasia of the fallopian tube	Developmental hypoplasia of the fallopian tube.
HP:0008702	Absent internal genitalia	
HP:0008703	Gonadal calcification	Deposition of calcium salts in gonadal tissue.
HP:0008705	Ureteral triplication	
HP:0008706	Distal urethral duplication	
HP:0008707	Absent scrotum	Congenital absence of the scrotum.
HP:0008708	Partial development of the penile shaft	
HP:0008711	Benign prostatic hyperplasia	The presence of non-malignant hyperplasia of the prostate.
HP:0008714	Ureterovesical stenosis	
HP:0008715	Testicular dysgenesis	
HP:0008716	Urethrovaginal fistula	The presence of a fistula between the vagina and the urethra.
HP:0008717	Unilateral renal atrophy	A unilateral form of atrophy of the kidney.
HP:0008718	Unilateral renal dysplasia	A unilateral form of developmental dysplasia of the kidney.
HP:0008720	Primary testicular failure	
HP:0008722	Urethral diverticulum	The presence of a diverticulum (sac or pouch) in the wall of the urethra.
HP:0008723	Gonadal dysgenesis with female appearance, male	Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.
HP:0008724	Hypoplasia of the ovary	Developmental hypoplasia of the ovary.
HP:0008726	Hypoplasia of the vagina	Developmental hypoplasia of the vagina.
HP:0008729	Absence of labia majora	
HP:0008730	Female external genitalia in individual with 46,XY karyotype	The presence of female external genitalia in a person with a male karyotype.
HP:0008732	Renal hypophosphatemia	Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.
HP:0008733	Dysplastic testes	
HP:0008734	Decreased testicular size	Reduced volume of the testicle (the male gonad).
HP:0008736	Hypoplasia of penis	
HP:0008738	Partially duplicated kidney	The presence of a partially duplicated kidney.
HP:0008739	Labial pseudohypertrophy	
HP:0008740	Longitudinal vaginal septum	The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.
HP:0008742	Prominent prostate median bar	
HP:0008743	Coronal hypospadias	A mild form of hypospadias in which the urethra opens just under the corona glandis.
HP:0008744	Abnormal aryepiglottic fold morphology	An abnormality of the aryepiglottic fold.
HP:0008747	Cartilaginous ossification of larynx	Ossification affecting the set of cartilages of larynx.
HP:0008749	Laryngeal hypoplasia	Underdevelopment of the larynx.
HP:0008750	Laryngeal atresia	Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.
HP:0008751	Laryngeal cleft	Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.
HP:0008752	Laryngeal cartilage malformation	A malformation of the laryngeal cartilage.
HP:0008753	Aplasia of the epiglottis	Absence of the epiglottis.
HP:0008754	Laryngeal calcification	Calcification (abnormal deposits of calcium) in the laryngeal tissues.
HP:0008755	Laryngotracheomalacia	
HP:0008756	Bowing of the vocal cords	Bowing (abnormal curvature) of the vocal folds.
HP:0008757	Unilateral vocal cord paralysis	A loss of the ability to move the vocal fold on one side.
HP:0008760	Violent behavior	
HP:0008762	Repetitive compulsive behavior	
HP:0008763	No social interaction	
HP:0008765	Auditory hallucinations	The false perception of sound.
HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	
HP:0008768	Inappropriate sexual behavior	
HP:0008770	Obsessive-compulsive trait	The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.
HP:0008771	Aplasia/Hypoplasia of the ear	The presence of aplasia or developmental hypoplasia of the ear.
HP:0008772	Aplasia/Hypoplasia of the external ear	The presence of aplasia or developmental hypoplasia of all or part of the external ear.
HP:0008773	Aplasia/Hypoplasia of the middle ear	Aplasia or developmental hypoplasia of all or part of the middle ear.
HP:0008774	Aplasia/Hypoplasia of the inner ear	Aplasia or developmental hypoplasia of the inner ear.
HP:0008775	Abnormal prostate morphology	An abnormality of the prostate.
HP:0008776	Abnormal renal artery morphology	Any structural abnormality of the renal artery.
HP:0008777	Abnormal vocal cord morphology	An abnormality of the vocal cord.
HP:0008780	Congenital bilateral hip dislocation	
HP:0008783	Wide proximal femoral metaphysis	Increased width of the proximal part of the shaft (metaphysis) of the femur.
HP:0008784	Wide capital femoral epiphyses	Abnormally wide morphology of the proximal epiphysis of the femur.
HP:0008785	Delayed ossification of pubic rami	Delayed maturation and calcification of the rami (branches) of the pubic bone.
HP:0008786	Iliac crest serration	Irregularities of the iliac crest that produce the appearance of a lace border around it.
HP:0008788	Delayed pubic bone ossification	Delayed maturation and calcification of the pubic bone.
HP:0008789	Cone-shaped capital femoral epiphysis	A cone-shaped deformity of the proximal epiphysis of the femur.
HP:0008794	Dysplastic iliac wing	A general term that describes a congenital defect in the iliac wing resulting from abnormal development.
HP:0008796	Femoral retroversion	An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).
HP:0008797	Early ossification of capital femoral epiphyses	Developmental acceleration of ossification of the proximal epiphysis of the femur.
HP:0008798	Widened greater sciatic notch	The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.
HP:0008800	Limited hip movement	A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.
HP:0008801	Hypoplasia of the lesser trochanter	Underdevelopment of the lesser trochanter.
HP:0008802	Hypoplasia of the femoral head	Underdevelopment of the femoral head.
HP:0008804	Broad femoral head	Increased width of the femoral head.
HP:0008807	Acetabular dysplasia	A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.
HP:0008808	High iliac wing	Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
HP:0008812	Flattened femoral head	An abnormally flattened femoral head.
HP:0008817	Aplastic pubic bones	
HP:0008818	Large iliac wing	Increased size of the ilium ala.
HP:0008819	Narrow femoral neck	An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
HP:0008820	Absent ossification of capital femoral epiphysis	Lack of ossification of the proximal epiphysis of the femur.
HP:0008821	Hypoplastic inferior ilia	
HP:0008822	Hypoplastic ischiopubic rami	Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.
HP:0008823	Hypoplastic inferior pubic rami	
HP:0008824	Hypoplastic iliac body	Underdevelopment of the body of ilium.
HP:0008826	Dislocation of the femoral head	Joint dislocation of the femoral head.
HP:0008828	Delayed proximal femoral epiphyseal ossification	Developmental delay of ossification of the proximal epiphysis of the femur.
HP:0008829	Delayed femoral head ossification	Delayed ossification of the femoral head.
HP:0008830	Hypoplastic pubic rami	
HP:0008833	Irregular acetabular roof	
HP:0008835	Multicentric femoral head ossification	There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.
HP:0008838	Stippled calcification proximal humeral epiphyses	
HP:0008839	Hypoplastic pelvis	Underdevelopment of the bony pelvis.
HP:0008843	Hip osteoarthritis	
HP:0008845	Mesomelic short stature	A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
HP:0008846	Severe intrauterine growth retardation	Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
HP:0008848	Moderately short stature	A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
HP:0008850	Severe postnatal growth retardation	Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.
HP:0008855	Moderate postnatal growth retardation	A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.
HP:0008857	Neonatal short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.
HP:0008866	Failure to thrive secondary to recurrent infections	Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.
HP:0008872	Feeding difficulties in infancy	Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
HP:0008873	Disproportionate short-limb short stature	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
HP:0008883	Mild intrauterine growth retardation	Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.
HP:0008887	Adipose tissue loss	A loss of adipose tissue.
HP:0008890	Severe short-limb dwarfism	
HP:0008897	Postnatal growth retardation	Slow or limited growth after birth.
HP:0008905	Rhizomelia	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
HP:0008909	Lethal short-limbed short stature	
HP:0008915	Childhood-onset truncal obesity	Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.
HP:0008921	Neonatal short-limb short stature	A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
HP:0008922	Childhood-onset short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.
HP:0008929	Asymmetric short stature	
HP:0008935	Generalized neonatal hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.
HP:0008936	Axial hypotonia	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
HP:0008940	Generalized lymphadenopathy	A generalized form of lymphadenopathy.
HP:0008942	Acute rhabdomyolysis	An acute form of rhabdomyolysis.
HP:0008944	Distal lower limb amyotrophy	Muscular atrophy of distal leg muscles.
HP:0008945	Loss of ability to walk in early childhood	
HP:0008946	Pelvic girdle amyotrophy	Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.
HP:0008947	Infantile muscular hypotonia	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
HP:0008948	Proximal upper limb amyotrophy	Muscular atrophy affecting proximally located muscles of the arms.
HP:0008952	Shoulder muscle hypoplasia	Underdevelopment of muscles of the shoulder.
HP:0008953	Pectoralis major hypoplasia	Underdevelopment of the pectoralis major.
HP:0008954	Intrinsic hand muscle atrophy	Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
HP:0008955	Progressive distal muscular atrophy	Progressive muscular atrophy affecting muscles in the distal portions of the extremities.
HP:0008956	Proximal lower limb amyotrophy	Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
HP:0008959	Distal upper limb muscle weakness	Reduced strength of the distal musculature of the arms.
HP:0008962	Calf muscle hypoplasia	Underdevelopment of the muscuklature of the calf.
HP:0008963	Tibialis muscle weakness	Muscle weakness affecting the tibialis anterior muscle.
HP:0008964	Nonprogressive muscular atrophy	Muscular atrophy that does not display a progression in severity with time.
HP:0008967	Exercise-induced muscle stiffness	A type of muscle stiffness that occurs following physical exertion.
HP:0008968	Muscle hypertrophy of the lower extremities	Muscle hypertrophy primarily affecting the legs.
HP:0008969	Leg muscle stiffness	
HP:0008970	Scapulohumeral muscular dystrophy	
HP:0008972	Decreased activity of mitochondrial respiratory chain	Decreased activity of the mitochondrial respiratory chain.
HP:0008978	Necrotizing myopathy	
HP:0008981	Calf muscle hypertrophy	Muscle hypertrophy affecting the calf muscles.
HP:0008984	Neck muscle hypoplasia	Underdevelopment of muscles of the neck.
HP:0008985	Increased intramuscular fat	An abnormal increase in the amount of intramuscular fat tissue.
HP:0008986	Agenesis of the diaphragm	Congenital lack, i.e., aplasia of the diaphragm.
HP:0008988	Pelvic girdle muscle atrophy	Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).
HP:0008991	Exercise-induced leg cramps	Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.
HP:0008993	Increased intraabdominal fat	An abnormal increase in the amount of intraabdominal fat tissue.
HP:0008994	Proximal muscle weakness in lower limbs	A lack of strength of the proximal muscles of the legs.
HP:0008997	Proximal muscle weakness in upper limbs	A lack of strength of the proximal muscles of the arms.
HP:0008998	Pectoralis hypoplasia	Underdevelopment of the pectoral muscle.
HP:0009002	Loss of truncal subcutaneous adipose tissue	Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.
HP:0009003	Increased subcutaneous truncal adipose tissue	The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.
HP:0009004	Hypoplasia of the musculature	Underdevelopment of the musculature.
HP:0009005	Weakness of the intrinsic hand muscles	
HP:0009007	Biceps hypoplasia	Underdevelopment of the biceps muscle.
HP:0009011	Hypoplasia of serratus anterior muscle	Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.
HP:0009013	Congenital absence of gluteal muscles	
HP:0009016	Upper limb muscle hypoplasia	Underdevelopment of muscles of the arm.
HP:0009017	Loss of gluteal subcutaneous adipose tissue	Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.
HP:0009019	Progressive loss of facial adipose tissue	
HP:0009020	Exercise-induced muscle fatigue	An abnormally increased tendency towards muscle fatigue induced by physical exercise.
HP:0009023	Abdominal wall muscle weakness	Decreased strength of the abdominal musculature.
HP:0009025	Increased connective tissue	The presence of an abnormally increased amount of connective tissue.
HP:0009026	Hypoplasia of latissimus dorsi muscle	Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.
HP:0009027	Foot dorsiflexor weakness	Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
HP:0009028	Generalized weakness of limb muscles	Generalized weakness of the muscles of the arms and legs.
HP:0009031	Amyotrophy of ankle musculature	Atrophy of the muscles of the ankle.
HP:0009037	Segmental spinal muscular atrophy	
HP:0009045	Exercise-induced rhabdomyolysis	Rhabdomyolysis induced by exercise.
HP:0009046	Difficulty running	Reduced ability to run.
HP:0009049	Peroneal muscle atrophy	Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).
HP:0009050	Quadriceps muscle atrophy	Muscular atrophy involving the quadriceps muscle.
HP:0009051	Increased muscle glycogen content	An increased amount of glycogen in muscle tissue.
HP:0009053	Distal lower limb muscle weakness	Reduced strength of the distal musculature of the legs.
HP:0009054	Scapuloperoneal myopathy	
HP:0009055	Generalized limb muscle atrophy	Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.
HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	
HP:0009058	Increased muscle lipid content	An abnormal accumulation of lipids in skeletal muscle.
HP:0009059	Congenital generalized lipodystrophy	
HP:0009060	Scapular muscle atrophy	Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.
HP:0009062	Infantile axial hypotonia	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.
HP:0009063	Progressive distal muscle weakness	Progressively reduced strength of the distal musculature.
HP:0009064	Generalized lipodystrophy	Generalized degenerative changes of the fat tissue.
HP:0009067	Progressive spinal muscular atrophy	Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
HP:0009069	Lethal infantile mitochondrial myopathy	
HP:0009071	Inflammatory myopathy	Chronic muscle inflammation accompanied by muscle weakness.
HP:0009072	Decreased Achilles reflex	Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
HP:0009073	Progressive proximal muscle weakness	Lack of strength of the proximal muscles that becomes progressively more severe.
HP:0009077	Weakness of long finger extensor muscles	
HP:0009084	Midline notch of upper alveolar ridge	
HP:0009085	Alveolar ridge overgrowth	Increased width of the alveolar ridges.
HP:0009087	Posteriorly placed tongue	
HP:0009088	Speech articulation difficulties	Difficulty producing recognizable speech sounds.
HP:0009092	Progressive alveolar ridge hypertropy	
HP:0009094	Cleft lower alveolar ridge	
HP:0009098	Chronic oral candidiasis	Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
HP:0009099	Median cleft palate	Cleft palate of the midline of the palate.
HP:0009100	Thick anterior alveolar ridges	
HP:0009101	Submucous cleft lip	A cleft of the lip with overlying mucous membrane.
HP:0009102	Anterior open-bite malocclusion	Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.
HP:0009103	Aplasia/Hypoplasia involving the pelvis	
HP:0009104	Aplasia/Hypoplasia of the pubic bone	Absence or underdevelopment of the pubic bone.
HP:0009105	Abnormal ossification of the pubic bone	Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.
HP:0009106	Abnormal pelvis bone ossification	An abnormality of the formation and mineralization of any bone of the bony pelvis.
HP:0009107	Abnormal ossification involving the femoral head and neck	
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	
HP:0009109	Denervation of the diaphragm	Interruption of the innervation of the diaphragm.
HP:0009110	Diaphragmatic eventration	A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.
HP:0009112	Aplasia of the left hemidiaphragm	Congenital absence of the left half of the diaphragm.
HP:0009113	Diaphragmatic weakness	A decrease in the strength of the diaphragm.
HP:0009115	Aplasia/hypoplasia involving the skeleton	Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.
HP:0009116	Aplasia/Hypoplasia involving bones of the skull	
HP:0009117	Aplasia/Hypoplasia of the maxilla	Absence or underdevelopment of the maxilla.
HP:0009118	Aplasia/Hypoplasia of the mandible	Absence or underdevelopment of the mandible.
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	Absence or underdevelopment of frontal sinus.
HP:0009120	Aplasia/Hypoplasia involving the sinuses	Absence or underdevelopment of a cranial sinus or sinuses.
HP:0009121	Abnormal axial skeleton morphology	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
HP:0009122	Aplasia/hypoplasia affecting bones of the axial skeleton	Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	
HP:0009124	Abnormal adipose tissue morphology	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.
HP:0009125	Lipodystrophy	Degenerative changes of the fat tissue.
HP:0009126	Increased adipose tissue	An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).
HP:0009127	Abnormality of the musculature of the limbs	
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	
HP:0009129	Upper limb amyotrophy	Muscular atrophy involving the muscles of the upper limbs.
HP:0009130	Hand muscle atrophy	Muscular atrophy involving the muscles of the hand.
HP:0009131	Abnormality of the musculature of the thorax	A disease or lesion affecting the muscles of the thorax.
HP:0009132	Abnormal tarsal bone mineral density	This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.
HP:0009134	Osteolysis involving bones of the feet	
HP:0009136	Duplication involving bones of the feet	
HP:0009138	Synostosis involving bones of the lower limbs	An abnormal union between bones or parts of bones lower limbs.
HP:0009139	Osteolysis involving bones of the lower limbs	
HP:0009140	Synostosis involving bones of the feet	
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	
HP:0009142	Duplication of bones involving the upper extremities	
HP:0009144	Supernumerary bones of the axial skeleton	
HP:0009145	Abnormal cerebral artery morphology	Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.
HP:0009147	Enlarged epiphysis of the distal phalanx of the 5th finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.
HP:0009148	Small epiphysis of the distal phalanx of the 5th finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.
HP:0009149	Triangular epiphysis of the distal phalanx of the 5th finger	A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009150	Abnormality of the proximal phalanx of the 5th finger	Abnormality of the proximal phalanx of the little (5th) finger.
HP:0009152	Abnormality of the epiphyses of the 5th finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.
HP:0009153	Abnormality of the epiphysis of the proximal phalanx of the 5th finger	Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
HP:0009154	Triangular epiphysis of the proximal phalanx of the 5th finger	A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009155	Cone-shaped epiphysis of the proximal phalanx of the 5th finger	A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009157	Ivory epiphysis of the proximal phalanx of the 5th finger	Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009158	Enlarged epiphysis of the proximal phalanx of the 5th finger	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.
HP:0009159	Small epiphysis of the proximal phalanx of the 5th finger	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.
HP:0009160	Absent epiphysis of the proximal phalanx of the 5th finger	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.
HP:0009161	Aplasia/Hypoplasia of the middle phalanx of the 5th finger	Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.
HP:0009162	Absent middle phalanx of 5th finger	Absence of the middle phalanx of the little (5th) finger.
HP:0009164	Abnormal calcification of the carpal bones	
HP:0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.
HP:0009166	Fragmentation of the epiphysis of the distal phalanx of the 5th finger	Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.
HP:0009167	Irregular epiphysis of the distal phalanx of the 5th finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.
HP:0009168	Bullet-shaped middle phalanx of the 5th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.
HP:0009169	Broad middle phalanx of the 5th finger	Increased width of the middle phalanx of the 5th finger.
HP:0009170	Osteolytic defects of the middle phalanx of the 5th finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.
HP:0009171	Triangular epiphyses of the metacarpals	A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.
HP:0009172	Abnormal 4th finger phalanx morphology	Abnormality of the phalanges of the 4th (ring) finger.
HP:0009173	Curved middle phalanx of the 5th finger	Curved appearance of the middle phalanx of the 5th finger.
HP:0009174	Abnormality of the epiphyses of the 4th finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.
HP:0009175	Patchy sclerosis of the middle phalanx of the 5th finger	Patchy increase in bone density of the middle phalanx of the 5th finger.
HP:0009177	Proximal/middle symphalangism of 5th finger	Fusion of the proximal and middle phalanges of the 5th finger.
HP:0009178	Symphalangism of middle phalanx of 5th finger	Fusion of the middle phalanx of the 5th finger with another bone.
HP:0009179	Deviation of the 5th finger	Displacement of the 5th finger from its normal position.
HP:0009180	Ulnar deviation of the 5th finger	Displacement of the 5th finger towards the ulnar side.
HP:0009182	Triangular shaped middle phalanx of the 5th finger	Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009183	Joint contracture of the 5th finger	Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
HP:0009184	Contracture of the distal interphalangeal joint of the 5th finger	Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.
HP:0009185	Contracture of the proximal interphalangeal joint of the 5th finger	Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
HP:0009186	Contracture of the metacarpophalangeal joint of the 5th finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.
HP:0009187	Bracket epiphysis of the distal phalanx of the 5th finger	An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009188	Pseudoepiphysis of the distal phalanx of the 5th finger	A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009189	Fragmentation of the metacarpal epiphyses	Fragmented appearance of the epiphyses of the metacarpals.
HP:0009190	Irregular epiphyses of the metacarpals	Irregular radiographic opacity of the epiphyses of the metacarpals.
HP:0009191	Ivory epiphyses of the metacarpals	Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009192	Aplasia/Hypoplasia of the proximal phalanx of the 5th finger	Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.
HP:0009193	Pseudoepiphyses of the metacarpals	A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.
HP:0009194	Small epiphyses of the metacarpals	Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.
HP:0009195	Epiphyseal stippling of the metacarpals	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.
HP:0009196	Absent metacarpal epiphyses	Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.
HP:0009197	Bracket epiphysis of the proximal phalanx of the 5th finger	An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009198	Abnormality of the epiphysis of the distal phalanx of the 5th finger	Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
HP:0009199	Irregular epiphysis of the proximal phalanx of the 5th finger	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.
HP:0009200	Pseudoepiphysis of the proximal phalanx of the 5th finger	A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.
HP:0009202	Fragmentation of the epiphysis of the proximal phalanx of the 5th finger	Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.
HP:0009203	Absent epiphysis of the middle phalanx of the 5th finger	Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.
HP:0009204	Bracket epiphysis of the middle phalanx of the 5th finger	An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009205	Cone-shaped epiphysis of the middle phalanx of the 5th finger	A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009206	Enlarged epiphysis of the middle phalanx of the 5th finger	Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.
HP:0009207	Fragmentation of the epiphysis of the middle phalanx of the 5th finger	Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.
HP:0009208	Irregular epiphysis of the middle phalanx of the 5th finger	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.
HP:0009209	Ivory epiphysis of the middle phalanx of the 5th finger	Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009210	Pseudoepiphysis of the middle phalanx of the 5th finger	A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009211	Small epiphysis of the middle phalanx of the 5th finger	Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.
HP:0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.
HP:0009213	Triangular epiphysis of the middle phalanx of the 5th finger	A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009214	Absent epiphysis of the middle phalanx of the 4th finger	Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.
HP:0009215	Bracket epiphysis of the middle phalanx of the 4th finger	An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009216	Cone-shaped epiphysis of the middle phalanx of the 4th finger	A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009217	Enlarged epiphysis of the middle phalanx of the 4th finger	Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.
HP:0009218	Fragmentation of the epiphysis of the middle phalanx of the 4th finger	Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.
HP:0009219	Irregular epiphysis of the middle phalanx of the 4th finger	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.
HP:0009220	Ivory epiphysis of the middle phalanx of the 4th finger	Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009221	Pseudoepiphysis of the middle phalanx of the 4th finger	A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009222	Small epiphysis of the middle phalanx of the 4th finger	Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.
HP:0009223	Stippling of the epiphysis of the middle phalanx of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.
HP:0009224	Triangular epiphysis of the middle phalanx of the 4th finger	A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009225	Aplasia of the proximal phalanx of the 5th finger	Absence of the proximal phalanx of the little (5th) finger.
HP:0009226	Short proximal phalanx of the 5th finger	Hypoplastic/small proximal phalanx of the fifth finger.
HP:0009227	Broad proximal phalanx of the 5th finger	Increased width of the proximal phalanx of the 5th finger.
HP:0009228	Bullet-shaped proximal phalanx of the 5th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.
HP:0009229	Curved proximal phalanx of the 5th finger	Curved appearance of the proximal phalanx of the 5th finger.
HP:0009230	Osteolytic defects of the proximal phalanx of the 5th finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.
HP:0009231	Patchy sclerosis of the proximal phalanx of the 5th finger	Patchy increase in bone density of the proximal phalanx of the 5th finger.
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	Fusion of the proximal phalanx of the 5th finger with another bone.
HP:0009233	Triangular shaped proximal phalanx of the 5th finger	Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009234	Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal	Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.
HP:0009236	Rhomboid or triangular shaped 5th finger proximal phalanx	Rhomboid or triangular shaped 5th (little) finger proximal phalanx.
HP:0009237	Short 5th finger	Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
HP:0009238	Aplasia of the 5th finger	Absent 5th (little) finger.
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	
HP:0009240	Broad distal phalanx of the 5th finger	Increased width of the distal phalanx of the 5th finger.
HP:0009241	Bullet-shaped distal phalanx of the 5th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.
HP:0009242	Osteolytic defects of the distal phalanx of the 5th finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.
HP:0009243	Patchy sclerosis of the distal phalanx of the 5th finger	Patchy increase in bone density of the distal phalanx of the 5th finger.
HP:0009244	Distal/middle symphalangism of 5th finger	Fusion of the terminal/distal and middle phalanges of the 5th finger.
HP:0009245	Triangular shaped distal phalanx of the 5th finger	Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009246	Aplasia of the distal phalanx of the 5th finger	Absence of the distal phalanx of the little (5th) finger.
HP:0009247	Abnormality of the epiphysis of the middle phalanx of the 4th finger	
HP:0009248	Abnormality of the epiphysis of the proximal phalanx of the 4th finger	
HP:0009249	Abnormality of the epiphysis of the distal phalanx of the 4th finger	
HP:0009250	Absent epiphysis of the distal phalanx of the 4th finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.
HP:0009251	Bracket epiphysis of the distal phalanx of the 4th finger	An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009252	Cone-shaped epiphysis of the distal phalanx of the 4th finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009253	Enlarged epiphysis of the distal phalanx of the 4th finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.
HP:0009254	Fragmentation of the epiphysis of the distal phalanx of the 4th finger	Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.
HP:0009255	Irregular epiphysis of the distal phalanx of the 4th finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.
HP:0009256	Ivory epiphysis of the distal phalanx of the 4th finger	Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009257	Pseudoepiphysis of the distal phalanx of the 4th finger	A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009258	Small epiphysis of the distal phalanx of the 4th finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.
HP:0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.
HP:0009260	Triangular epiphysis of the distal phalanx of the 4th finger	A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009261	Absent epiphysis of the proximal phalanx of the 4th finger	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.
HP:0009262	Bracket epiphysis of the proximal phalanx of the 4th finger	An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009263	Cone-shaped epiphysis of the proximal phalanx of the 4th finger	A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009264	Enlarged epiphysis of the proximal phalanx of the 4th finger	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.
HP:0009265	Fragmentation of the epiphysis of the proximal phalanx of the 4th finger	Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.
HP:0009266	Irregular epiphysis of the proximal phalanx of the 4th finger	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.
HP:0009267	Ivory epiphysis of the proximal phalanx of the 4th finger	Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009268	Pseudoepiphysis of the proximal phalanx of the 4th finger	A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009269	Small epiphysis of the proximal phalanx of the 4th finger	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.
HP:0009270	Stippling of the epiphysis of the proximal phalanx of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.
HP:0009271	Triangular epiphysis of the proximal phalanx of the 4th finger	A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009272	Aplasia/Hypoplasia of the 4th finger	A small/hypoplastic or absent/aplastic 4th (ring) finger.
HP:0009273	Deviation of the 4th finger	Displacement of the 4th finger from its normal position.
HP:0009274	Joint contracture of the 4th finger	Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.
HP:0009275	Contracture of the distal interphalangeal joint of the 4th finger	Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.
HP:0009276	Contracture of the proximal interphalangeal joint of the 4th finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
HP:0009277	Contracture of the metacarpophalangeal joint of the 4th finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.
HP:0009278	Ulnar deviation of the 4th finger	Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger).
HP:0009279	Radial deviation of the 4th finger	Displacement of the 4th finger towards the radial side (i.e., towards the thumb).
HP:0009280	Short 4th finger	Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.
HP:0009281	Aplasia of the 4th finger	Absent 4th finger.
HP:0009282	Abnormality of the distal phalanx of the 4th finger	
HP:0009283	Abnormality of the middle phalanx of the 4th finger	
HP:0009284	Abnormality of the proximal phalanx of the 4th finger	
HP:0009285	Curved phalanges of the 4th finger	Curved appearance of the phalanges of the 4th (ring) finger.
HP:0009286	Curved distal phalanx of the 4th finger	Curved appearance of the distal phalanx of the 4th (ring) finger.
HP:0009287	Curved middle phalanx of the 4th finger	Curved appearance of the middle phalanx of the 4th (ring) finger.
HP:0009288	Curved proximal phalanx of the 4th finger	
HP:0009289	Aplasia/Hypoplasia of the distal phalanx of the 4th finger	
HP:0009290	Short distal phalanx of the 4th finger	Hypoplastic/small distal phalanx of the fourth finger.
HP:0009291	Aplasia of the distal phalanx of the 4th finger	Absence of the distal phalanx of the ring (4th) finger.
HP:0009292	Broad distal phalanx of the 4th finger	Increased width of the distal phalanx of the 4th finger.
HP:0009293	Broad middle phalanx of the 4th finger	Increased width of the middle phalanx of the 4th finger.
HP:0009294	Absent middle phalanx of 4th finger	Absence of the middle phalanx of the ring (4th) finger.
HP:0009295	Short middle phalanx of the 4th finger	Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.
HP:0009296	Bullet-shaped middle phalanx of the 4th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.
HP:0009297	Osteolytic defects of the middle phalanx of the 4th finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.
HP:0009298	Aplasia of the proximal phalanx of the 4th finger	Absence of the proximal phalanx of the ring (4th) finger.
HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	
HP:0009300	Aplasia/Hypoplasia of the proximal phalanx of the 4th finger	
HP:0009301	Short proximal phalanx of the 4th finger	Hypoplastic/small proximal phalanx of the fourth finger.
HP:0009302	Bullet-shaped distal phalanx of the 4th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.
HP:0009303	Osteolytic defects of the distal phalanx of the 4th finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.
HP:0009304	Patchy sclerosis of the distal phalanx of the 4th finger	Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.
HP:0009305	Distal/middle symphalangism of 4th finger	Fusion of the terminal/distal and middle phalanges of the 4th finger.
HP:0009306	Triangular shaped distal phalanx of the 4th finger	Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009307	Patchy sclerosis of the middle phalanx of the 4th finger	Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.
HP:0009308	Symphalangism of middle phalanx of 4th finger	Fusion of the middle phalanx of the 4th finger with another bone.
HP:0009309	Triangular shaped middle phalanx of the 4th finger	Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009310	Broad proximal phalanx of the 4th finger	Increased width of the proximal phalanx of the 4th finger.
HP:0009311	Bullet-shaped proximal phalanx of the 4th finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.
HP:0009312	Osteolytic defects of the proximal phalanx of the 4th finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.
HP:0009313	Patchy sclerosis of the proximal phalanx of the 4th finger	Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.
HP:0009314	Symphalangism affecting the proximal phalanx of the 4th finger	Fusion of the proximal phalanx of the 4th finger with another bone.
HP:0009315	Triangular shaped proximal phalanx of the 4th finger	Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009316	Abnormal 3rd finger phalanx morphology	Abnormality of the phalanges of the 3rd (middle) finger.
HP:0009317	Deviation of the 3rd finger	Displacement of the 3rd finger from its normal position.
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	A small/hypoplastic or absent/aplastic 3rd (middle) finger.
HP:0009319	Joint contracture of the 3rd finger	Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.
HP:0009320	Abnormality of the epiphyses of the 3rd finger	Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.
HP:0009321	Absent epiphysis of the middle phalanx of the 3rd finger	Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.
HP:0009322	Bracket epiphysis of the middle phalanx of the 3rd finger	An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009323	Cone-shaped epiphysis of the middle phalanx of the 3rd finger	A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009324	Enlarged epiphysis of the middle phalanx of the 3rd finger	Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.
HP:0009325	Fragmentation of the epiphysis of the middle phalanx of the 3rd finger	Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.
HP:0009326	Irregular epiphysis of the middle phalanx of the 3rd finger	Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.
HP:0009327	Ivory epiphysis of the middle phalanx of the 3rd finger	Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009328	Pseudoepiphysis of the middle phalanx of the 3rd finger	A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009329	Small epiphysis of the middle phalanx of the 3rd finger	Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.
HP:0009330	Stippling of the epiphysis of the middle phalanx of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.
HP:0009331	Triangular epiphysis of the middle phalanx of the 3rd finger	A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009332	Abnormality of the epiphysis of the distal phalanx of the 3rd finger	
HP:0009333	Abnormality of the epiphysis of the proximal phalanx of the 3rd finger	
HP:0009334	Abnormality of the epiphysis of the middle phalanx of the 3rd finger	
HP:0009335	Absent epiphysis of the distal phalanx of the 3rd finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.
HP:0009336	Bracket epiphysis of the distal phalanx of the 3rd finger	An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009337	Cone-shaped epiphysis of the distal phalanx of the 3rd finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009338	Enlarged epiphysis of the distal phalanx of the 3rd finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.
HP:0009339	Fragmentation of the epiphysis of the distal phalanx of the 3rd finger	Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.
HP:0009340	Irregular epiphysis of the distal phalanx of the 3rd finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.
HP:0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009342	Pseudoepiphysis of the distal phalanx of the 3rd finger	A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009343	Small epiphysis of the distal phalanx of the 3rd finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.
HP:0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.
HP:0009345	Triangular epiphysis of the distal phalanx of the 3rd finger	A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009346	Absent epiphysis of the proximal phalanx of the 3rd finger	Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.
HP:0009347	Bracket epiphysis of the proximal phalanx of the 3rd finger	An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009348	Cone-shaped epiphysis of the proximal phalanx of the 3rd finger	A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009349	Enlarged epiphysis of the proximal phalanx of the 3rd finger	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.
HP:0009350	Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger	Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.
HP:0009351	Irregular epiphysis of the proximal phalanx of the 3rd finger	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.
HP:0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009353	Pseudoepiphysis of the proximal phalanx of the 3rd finger	A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009354	Small epiphysis of the proximal phalanx of the 3rd finger	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.
HP:0009355	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.
HP:0009356	Triangular epiphysis of the proximal phalanx of the 3rd finger	A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009357	Abnormality of the distal phalanx of the 3rd finger	
HP:0009358	Abnormality of the proximal phalanx of the 3rd finger	
HP:0009370	Type A brachydactyly	
HP:0009371	Type A1 brachydactyly	
HP:0009372	Type A2 brachydactyly	
HP:0009373	Type C brachydactyly	
HP:0009374	Broad phalanges of the 5th finger	Increased width of the phalanges of the 5th finger.
HP:0009375	Bullet-shaped phalanges of the 5th finger	A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger	Aplasia/Hypoplasia of the phalanges of the 5th finger.
HP:0009377	Patchy sclerosis of 5th finger phalanx	Uneven increase in bone density of one or more of the phalanges of the 5th finger.
HP:0009378	Triangular shaped phalanges of the 5th finger	Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009379	Rhomboid or triangular shaped 5th finger distal phalanx	Rhomboid or triangular shaped 5th (little) finger distal phalanx.
HP:0009380	Aplasia of the fingers	Aplasia of one or more fingers.
HP:0009381	Short finger	Abnormally short finger associated with developmental hypoplasia.
HP:0009382	Absent epiphyses of the 5th finger	Absence of one or more epiphyses of the 5th finger.
HP:0009383	Bracket epiphyses of the 5th finger	An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009384	Cone-shaped epiphyses of the 5th finger	A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0009385	Enlarged epiphyses of the 5th finger	Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.
HP:0009386	Fragmentation of the epiphyses of the 5th finger	Fragmented appearance of the epiphyses of the 5th finger.
HP:0009387	Irregular epiphyses of the 5th finger	Irregular radiographic opacity of the epiphyses of the 5th finger.
HP:0009388	Ivory epiphyses of the 5th finger	Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009389	Pseudoepiphyses of the 5th finger	A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009390	Small epiphyses of the 5th finger	Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.
HP:0009391	Stippling of the epiphyses of the 5th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.
HP:0009392	Triangular epiphyses of the 5th finger	A triangular appearance of the epiphyses of the 5th finger of the hand.
HP:0009393	Absent epiphyses of the 4th finger	Absence of one or more epiphyses of the 4th finger.
HP:0009394	Bracket epiphyses of the 4th finger	An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009395	Cone-shaped epiphyses of the 4th finger	A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0009396	Enlarged epiphyses of the 4th finger	Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.
HP:0009397	Fragmentation of the epiphyses of the 4th finger	Fragmented appearance of the epiphyses of the 4th finger.
HP:0009398	Irregular epiphyses of the 4th finger	Irregular radiographic opacity of the epiphyses of the 4th finger.
HP:0009399	Ivory epiphyses of the 4th finger	Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009400	Pseudoepiphyses of the 4th finger	A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009401	Small epiphyses of the 4th finger	Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.
HP:0009402	Stippling of the epiphyses of the 4th finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.
HP:0009403	Triangular epiphyses of the 4th finger	A triangular appearance of the epiphyses of the 4th finger of the hand.
HP:0009404	Broad phalanges of the 4th finger	Increased width of the phalanges of the 4th finger.
HP:0009405	Bullet-shaped phalanges of the 4th finger	A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009406	Patchy sclerosis of 4th finger phalanx	Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.
HP:0009407	Triangular shaped phalanges of the 4th finger	Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009408	Aplasia/Hypoplasia of the phalanges of the 4th finger	
HP:0009410	Absent epiphyses of the 3rd finger	Absence of the epiphyses of the 3rd finger.
HP:0009411	Bracket epiphyses of the 3rd finger	An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009412	Cone-shaped epiphyses of the 3rd finger	A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0009413	Enlarged epiphyses of the 3rd finger	Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.
HP:0009414	Fragmentation of the epiphyses of the 3rd finger	Fragmented appearance of the epiphyses of the 3rd finger.
HP:0009415	Irregular epiphyses of the 3rd finger	Irregular radiographic opacity of the epiphyses of the 3rd finger.
HP:0009416	Ivory epiphyses of the 3rd finger	Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009417	Pseudoepiphyses of the 3rd finger	A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009418	Small epiphyses of the 3rd finger	Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.
HP:0009419	Stippling of the epiphyses of the 3rd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.
HP:0009420	Triangular epiphyses of the 3rd finger	A triangular appearance of the epiphyses of the 3rd finger of the hand.
HP:0009421	Aplasia/Hypoplasia of the distal phalanx of the 3rd finger	
HP:0009422	Broad distal phalanx of the 3rd finger	Increased width of the distal phalanx of the 3rd finger.
HP:0009423	Bullet-shaped distal phalanx of the 3rd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.
HP:0009424	Osteolytic defects of the distal phalanx of the 3rd finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.
HP:0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	Uneven (irregular) increase in bone density of the distal phalanx of the third finger.
HP:0009426	Distal/middle symphalangism of 3rd finger	Fusion of the terminal/distal and middle phalanges of the 3rd finger.
HP:0009427	Triangular shaped distal phalanx of the 3rd finger	Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009428	Curved distal phalanx of the 3rd finger	Curved appearance of the distal phalanx of the 3rd finger.
HP:0009429	Aplasia of the distal phalanx of the 3rd finger	Absence of the distal phalanx of the middle (3rd) finger.
HP:0009430	Broad middle phalanx of the 3rd finger	Increased width of the middle phalanx of the 3rd finger.
HP:0009431	Bullet-shaped middle phalanx of the 3rd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.
HP:0009432	Curved middle phalanx of the 3rd finger	Curved appearance of the middle phalanx of the 3rd (middle) finger.
HP:0009433	Osteolytic defects of the middle phalanx of the 3rd finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.
HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	Uneven (irregular) increase in bone density of the middle phalanx of the third finger.
HP:0009435	Symphalangism of middle phalanx of 3rd finger	Fusion of the middle phalanx of the 3rd finger with another bone.
HP:0009436	Triangular shaped middle phalanx of the 3rd finger	Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009437	Aplasia/Hypoplasia of the middle phalanx of the 3rd finger	
HP:0009438	Absent middle phalanx of 3rd finger	Absence of the middle phalanx of the middle (3rd) finger.
HP:0009439	Short middle phalanx of the 3rd finger	Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.
HP:0009440	Broad phalanges of the 3rd finger	Increased width of the phalanges of the 3rd finger.
HP:0009441	Bullet-shaped phalanges of the 3rd finger	A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009442	Curved phalanges of the 3rd finger	Curved appearance of the phalanges of the 3rd finger.
HP:0009443	Osteolytic defects of the phalanges of the 3rd finger	Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.
HP:0009444	Patchy sclerosis of 3rd finger phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.
HP:0009445	Symphalangism of the 3rd finger	Fusion of two or more bones of the 3rd finger.
HP:0009446	Triangular shaped phalanges of the 3rd finger	Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009447	Aplasia/Hypoplasia of the phalanges of the 3rd finger	
HP:0009450	Broad proximal phalanx of the 3rd finger	Increased width of the proximal phalanx of the 3rd finger.
HP:0009451	Bullet-shaped proximal phalanx of the 3rd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.
HP:0009452	Curved proximal phalanx of the 3rd finger	Curved appearance of the proximal phalanx of the 3rd finger.
HP:0009453	Osteolytic defects of the proximal phalanx of the 3rd finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.
HP:0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.
HP:0009455	Symphalangism affecting the proximal phalanx of the 3rd finger	Fusion of the proximal phalanx of the 3rd finger with another bone.
HP:0009456	Triangular shaped proximal phalanx of the 3rd finger	Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009457	Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger	
HP:0009458	Aplasia of the proximal phalanx of the 3rd finger	Absence of the proximal phalanx of the 3rd finger.
HP:0009459	Short proximal phalanx of the 3rd finger	Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.
HP:0009460	Aplasia of the 3rd finger	Absent 3rd finger.
HP:0009461	Short 3rd finger	Hypoplastic/small 3rd (middle) finger.
HP:0009462	Radial deviation of the 3rd finger	Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).
HP:0009463	Ulnar deviation of the 3rd finger	Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).
HP:0009464	Ulnar deviation of the 2nd finger	Displacement of the 2nd (index) finger towards the ulnar side.
HP:0009465	Ulnar deviation of finger	Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
HP:0009466	Radial deviation of finger	Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
HP:0009467	Radial deviation of the 2nd finger	Displacement of the 2nd finger towards the radial side.
HP:0009468	Deviation of the 2nd finger	Displacement of the 2nd finger from its normal position.
HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
HP:0009470	Contracture of the metacarpophalangeal joint of the 3rd finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
HP:0009471	Contracture of the proximal interphalangeal joint of the 3rd finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
HP:0009473	Joint contracture of the hand	Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
HP:0009477	Proximal/middle symphalangism of 4th finger	Fusion of the proximal and middle phalanges of the 4th finger.
HP:0009478	Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal	Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.
HP:0009482	Proximal/middle symphalangism of 3rd finger	Fusion of the proximal and middle phalanges of the 3rd finger.
HP:0009483	Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal	Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.
HP:0009484	Deviation of the hand or of fingers of the hand	Displacement of the hand or of fingers of the hand from their normal position.
HP:0009485	Radial deviation of the hand or of fingers of the hand	
HP:0009486	Radial deviation of the hand	An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).
HP:0009487	Ulnar deviation of the hand	Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
HP:0009488	Absent epiphyses of the 2nd finger	Absence of the epiphyses of the 2nd finger.
HP:0009489	Bracket epiphyses of the 2nd finger	An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009490	Cone-shaped epiphyses of the 2nd finger	A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0009491	Enlarged epiphyses of the 2nd finger	Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.
HP:0009492	Fragmentation of the epiphyses of the 2nd finger	Fragmented appearance of the epiphyses of the 2nd finger.
HP:0009493	Irregular epiphyses of the 2nd finger	Irregular radiographic opacity of the epiphyses of the 2nd finger.
HP:0009494	Ivory epiphyses of the 2nd finger	Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009495	Pseudoepiphysis of the 2nd finger	A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009496	Small epiphyses of the 2nd finger	Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.
HP:0009497	Stippling of the epiphyses of the 2nd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.
HP:0009498	Triangular epiphyses of the 2nd finger	A triangular appearance of the epiphyses of the 2nd finger of the hand.
HP:0009499	Abnormality of the epiphysis of the distal phalanx of the 2nd finger	
HP:0009500	Abnormality of the epiphysis of the middle phalanx of the 2nd finger	
HP:0009501	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger	
HP:0009502	Absent epiphysis of the distal phalanx of the 2nd finger	Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.
HP:0009503	Bracket epiphysis of the distal phalanx of the 2nd finger	An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009504	Cone-shaped epiphysis of the distal phalanx of the 2nd finger	A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009505	Enlarged epiphysis of the distal phalanx of the 2nd finger	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.
HP:0009506	Fragmentation of the epiphysis of the distal phalanx of the 2nd finger	Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.
HP:0009507	Irregular epiphysis of the distal phalanx of the 2nd finger	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.
HP:0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009509	Pseudoepiphysis of the distal phalanx of the 2nd finger	A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009510	Small epiphysis of the distal phalanx of the 2nd finger	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.
HP:0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.
HP:0009512	Triangular epiphysis of the distal phalanx of the 2nd finger	A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009513	Absent epiphysis of the middle phalanx of the 2nd finger	
HP:0009514	Bracket epiphysis of the middle phalanx of the 2nd finger	An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009515	Cone-shaped epiphysis of the middle phalanx of the 2nd finger	
HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	
HP:0009517	Fragmentation of the epiphysis of the middle phalanx of the 2nd finger	
HP:0009518	Irregular epiphysis of the middle phalanx of the 2nd finger	
HP:0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	
HP:0009520	Pseudoepiphysis of the middle phalanx of the 2nd finger	A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009521	Small epiphysis of the middle phalanx of the 2nd finger	
HP:0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	
HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	
HP:0009524	Absent epiphysis of the proximal phalanx of the 2nd finger	
HP:0009525	Bracket epiphysis of the proximal phalanx of the 2nd finger	An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009526	Cone-shaped epiphysis of the proximal phalanx of the 2nd finger	
HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	
HP:0009528	Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger	
HP:0009529	Irregular epiphysis of the proximal phalanx of the 2nd finger	
HP:0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	
HP:0009531	Pseudoepiphysis of the proximal phalanx of the 2nd finger	A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0009532	Small epiphysis of the proximal phalanx of the 2nd finger	
HP:0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	
HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	
HP:0009535	Aplasia of the 2nd finger	Absent 2nd (index) finger.
HP:0009536	Short 2nd finger	Hypoplasia of the second finger, also known as the index finger.
HP:0009537	Flexion contracture of the 2nd finger	Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.
HP:0009538	Contracture of the distal interphalangeal joint of the 2nd finger	Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
HP:0009539	Contracture of the metacarpophalangeal joint of the 2nd finger	Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
HP:0009540	Contracture of the proximal interphalangeal joint of the 2nd finger	Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
HP:0009541	Abnormality of the phalanges of the 2nd finger	Abnormality of the phalanges of the 2nd (index) finger.
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	
HP:0009545	Symphalangism of the 2nd finger	
HP:0009546	Triangular shaped phalanges of the 2nd finger	Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009547	Broad phalanges of the 2nd finger	
HP:0009548	Bullet-shaped phalanges of the 2nd finger	A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009549	Curved phalanges of the 2nd finger	
HP:0009550	Osteolytic defects of the phalanges of the 2nd finger	
HP:0009551	Patchy sclerosis of 2nd finger phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.
HP:0009552	Aplasia/Hypoplasia of the phalanges of the 2nd finger	
HP:0009553	Abnormality of the hairline	The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
HP:0009554	Preauricular hair displacement	An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.
HP:0009555	Hypoplasia of the pharynx	Underdevelopment of the pharynx.
HP:0009556	Absent tibia	Absence of the tibia.
HP:0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	
HP:0009558	Broad distal phalanx of the 2nd finger	Increased width of the distal phalanx of the 2nd finger.
HP:0009559	Bullet-shaped distal phalanx of the 2nd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.
HP:0009560	Curved distal phalanx of the 2nd finger	Curved appearance of the distal phalanx of the 2nd finger.
HP:0009561	Osteolytic defects of the distal phalanx of the 2nd finger	Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.
HP:0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	Uneven (irregular) increase in bone density of the distal phalanx of the second finger.
HP:0009563	Distal/middle symphalangism of 2nd finger	Fusion of the terminal/distal and middle phalanges of the 2nd finger.
HP:0009564	Triangular shaped distal phalanx of the 2nd finger	Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009565	Aplasia of the distal phalanx of the 2nd finger	
HP:0009566	Short distal phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.
HP:0009568	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger	
HP:0009569	Broad middle phalanx of the 2nd finger	Increased width of the middle phalanx of the second finger.
HP:0009570	Bullet-shaped middle phalanx of the 2nd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.
HP:0009571	Curved middle phalanx of the 2nd finger	Curved appearance of the middle phalanx of the 2nd finger.
HP:0009572	Osteolytic defects of the middle phalanx of the 2nd finger	Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.
HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	Uneven (irregular) increase in bone density of the middle phalanx of the second finger.
HP:0009574	Symphalangism of middle phalanx of 2nd finger	Fusion of the middle phalanx of the 2nd finger with another bone.
HP:0009575	Triangular shaped middle phalanx of the 2nd finger	Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009576	Absent middle phalanx of 2nd finger	Absence of the middle phalanx of the index (2nd) finger.
HP:0009577	Short middle phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
HP:0009579	Proximal/middle symphalangism of the 2nd finger	Fusion of the proximal and middle phalanges of the 2nd finger.
HP:0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	
HP:0009581	Broad proximal phalanx of the 2nd finger	Increased width of the proximal phalanx of the 2nd finger.
HP:0009582	Bullet-shaped proximal phalanx of the 2nd finger	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.
HP:0009583	Curved proximal phalanx of the 2nd finger	Curved appearance of the proximal phalanx of the 2nd finger.
HP:0009584	Osteolytic defects of the proximal phalanx of the 2nd finger	Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.
HP:0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.
HP:0009586	Symphalangism affecting the proximal phalanx of the 2nd finger	Fusion of the proximal phalanx of the 2nd finger with another bone.
HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009588	Vestibular schwannoma	A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.
HP:0009589	Bilateral vestibular schwannoma	A bilateral vestibular schwannoma (acoustic neurinoma).
HP:0009590	Unilateral vestibular schwannoma	A unilateral vestibular schwannoma (acoustic neurinoma).
HP:0009591	Abnormality of the vestibulocochlear nerve	Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.
HP:0009592	Astrocytoma	Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
HP:0009593	Peripheral schwannoma	The presence of a peripheral schwannoma.
HP:0009594	Retinal hamartoma	A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
HP:0009595	Occasional neurofibromas	Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
HP:0009596	Aplasia of the proximal phalanx of the 2nd finger	Absence of the proximal phalanx of the 2nd finger.
HP:0009597	Short proximal phalanx of the 2nd finger	Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.
HP:0009598	Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal	Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.
HP:0009599	Abnormality of thumb epiphysis	Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.
HP:0009600	Contracture of thumb	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.
HP:0009601	Aplasia/Hypoplasia of the thumb	Hypoplastic/small or absent thumb.
HP:0009602	Abnormality of thumb phalanx	A structural anomaly of one or more phalanges of the thumb.
HP:0009603	Deviation of the thumb	Displacement of the thumb from its normal position.
HP:0009606	Complete duplication of distal phalanx of the thumb	Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.
HP:0009608	Complete duplication of proximal phalanx of the thumb	Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009609	Duplication of the 1st metacarpal	Partail or complete duplication of the first metacarpal bone.
HP:0009611	Bifid distal phalanx of the thumb	Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.
HP:0009612	Duplication of the distal phalanx of the thumb	Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.
HP:0009613	Duplication of the proximal phalanx of the thumb	Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009614	Bifid proximal phalanx of the thumb	This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009615	Complete duplication of the first metacarpal	Complete duplication of the first metacarpal bone.
HP:0009616	Bifid first metacarpal	Partial duplication of the first metacarpal bone.
HP:0009617	Abnormality of the distal phalanx of the thumb	Any anomaly of the distal phalanx of thumb.
HP:0009618	Abnormality of the proximal phalanx of the thumb	An anomaly of the shape or form of the proximal phalanx of the thumb.
HP:0009622	Distally placed thumb	Insertion of thumb at a more distal location than normal.
HP:0009623	Proximal placement of thumb	Proximal mislocalization of the thumb.
HP:0009624	Carpometacarpal thumb joint contracture	Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.
HP:0009625	Metacarpophalangeal thumb joint contracture	Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.
HP:0009626	Interphalangeal thumb joint contracture	Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.
HP:0009629	Aplasia/Hypoplasia of the proximal phalanx of the thumb	This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009630	Broad proximal phalanx of the thumb	Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009631	Bullet-shaped proximal phalanx of the thumb	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.
HP:0009632	Curved proximal phalanx of the thumb	A deviation from the normal straight shape of the proximal phalanx of the thumb.
HP:0009633	Osteolytic defect of the proximal phalanx of the thumb	Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.
HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	An uneven increase in bone density of the proximal phalanx of the thumb.
HP:0009635	Synostosis of thumb phalanx	Fusion of a phalanx of the thumb with another bone.
HP:0009636	Triangular shaped proximal phalanx of the thumb	Triangular shaped proximal phalanx of the thumb.
HP:0009637	Absent proximal phalanx of thumb	Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009638	Short proximal phalanx of thumb	Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009640	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal	Fusion of the proximal phalanx of the thumb with the 1st metacarpal.
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	
HP:0009642	Broad distal phalanx of the thumb	Increased width of the distal phalanx of thumb.
HP:0009643	Bullet-shaped distal phalanx of the thumb	Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.
HP:0009644	Curved distal phalanx of the thumb	A deviation from the normal straight shape of the distal phalanx of the thumb.
HP:0009645	Osteolytic defect of the distal phalanx of the thumb	Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.
HP:0009646	Patchy sclerosis of the distal phalanx of the thumb	An uneven increase in bone density of the distal phalanx of the thumb.
HP:0009648	Triangular shaped distal phalanx of the thumb	Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
HP:0009649	Aplasia of the distal phalanx of the thumb	Absence of the distal/terminal phalanx of the thumb.
HP:0009650	Short distal phalanx of the thumb	Hypoplastic (short) distal phalanx of the thumb.
HP:0009652	Bullet-shaped thumb phalanx	An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009653	Curved thumb phalanx	A deviation from the normal straight shape of a thumb phalanx.
HP:0009654	Osteolytic defect of thumb phalanx	Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.
HP:0009655	Patchy sclerosis of thumb phalanx	An uneven increase in bone density of one or more of the phalanges of the thumb.
HP:0009656	Symphalangism of the thumb	Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.
HP:0009657	Triangular shaped thumb phalanx	Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.
HP:0009658	Aplasia/Hypoplasia of the phalanges of the thumb	
HP:0009659	Partial absence of thumb	The absence of a phalangeal segment of a thumb.
HP:0009660	Short phalanx of the thumb	Hypoplastic (short) thumb phalanx.
HP:0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.
HP:0009663	Abnormality of the epiphysis of the proximal phalanx of the thumb	This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009664	Absent epiphysis of the proximal phalanx of the thumb	Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009665	Bracket epiphysis of the proximal phalanx of the thumb	An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009666	Cone-shaped epiphysis of the proximal phalanx of the thumb	A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009667	Enlarged epiphysis of the proximal phalanx of the thumb	Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009668	Fragmentation of the epiphysis of the proximal phalanx of the thumb	Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.
HP:0009669	Irregular epiphysis of the proximal phalanx of the thumb	Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009670	Ivory epiphysis of the proximal phalanx of the thumb	Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009671	Pseudoepiphysis of the proximal phalanx of the thumb	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.
HP:0009672	Small epiphysis of the proximal phalanx of the thumb	Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.
HP:0009673	Stippling of the epiphysis of the proximal phalanx of the thumb	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009674	Triangular epiphysis of the proximal phalanx of the thumb	A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009675	Absent epiphysis of the distal phalanx of the thumb	Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.
HP:0009676	Bracket epiphysis of the distal phalanx of the thumb	An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009677	Cone-shaped epiphysis of the distal phalanx of the thumb	A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
HP:0009678	Enlarged epiphysis of the distal phalanx of the thumb	Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.
HP:0009679	Fragmentation of the epiphysis of the distal phalanx of the thumb	Epiphysis of the distal phalanx of the thumb having multiple bony fragments.
HP:0009680	Irregular epiphysis of the distal phalanx of the thumb	Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.
HP:0009681	Ivory epiphysis of the distal phalanx of the thumb	Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009682	Pseudoepiphysis of the distal phalanx of the thumb	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.
HP:0009683	Small epiphysis of the distal phalanx of the thumb	Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.
HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.
HP:0009685	Triangular epiphysis of the distal phalanx of the thumb	A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
HP:0009686	Absent epiphyses of the thumb	Absence of one or more epiphyses of the thumb.
HP:0009687	Bracket epiphyses of the thumb	An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0009688	Cone-shaped epiphysis of the thumb	A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0009689	Enlarged thumb epiphysis	Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.
HP:0009690	Fragmentation of thumb epiphysis	Epiphysis of the thumb having multiple bony fragments.
HP:0009691	Irregular thumb epiphysis	Uneven radiographic opacity of the one or more epiphyses of the thumb.
HP:0009692	Ivory epiphysis of the thumb	Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009693	Pseudoepiphysis of the thumb	A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.
HP:0009694	Small thumb epiphysis	Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.
HP:0009695	Stippling of thumb epiphysis	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.
HP:0009696	Triangular epiphyses of the thumb	
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.
HP:0009699	Osteolytic defects of the hand bones	
HP:0009700	Finger symphalangism	An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.
HP:0009701	Metacarpal synostosis	Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).
HP:0009702	Carpal synostosis	Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
HP:0009703	Synostosis involving the 1st metacarpal	Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009704	Chronic CSF lymphocytosis	Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.
HP:0009705	Synostosis involving the 2nd metacarpal	
HP:0009706	Synostosis involving the 3rd metacarpal	
HP:0009707	Synostosis involving the 4th metacarpal	
HP:0009708	Synostosis involving the 5th metacarpal	
HP:0009709	Increased CSF interferon alpha	Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).
HP:0009710	Chilblains	Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.
HP:0009711	Retinal capillary hemangioma	A benign vascular tumor of the retina without any neoplastic characteristics.
HP:0009713	Spinal hemangioblastoma	A hemangioblastoma of the spinal cord.
HP:0009714	Abnormal epididymis morphology	An abnormality of the epididymis.
HP:0009715	Papillary cystadenoma of the epididymis	A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
HP:0009716	Subependymal nodules	Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.
HP:0009717	Cortical tubers	Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.
HP:0009718	Subependymal giant-cell astrocytoma	A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.
HP:0009719	Hypomelanotic macule	Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.
HP:0009720	Adenoma sebaceum	The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.
HP:0009721	Shagreen patch	A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.
HP:0009722	Dental enamel pits	The presence of small depressions in the dental enamel.
HP:0009723	Abnormality of the subungual region	A lesion located beneath a fingernail or toenail.
HP:0009724	Subungual fibromas	The presence of fibromata beneath finger or toenails.
HP:0009725	Bladder neoplasm	The presence of a neoplasm of the urinary bladder.
HP:0009726	Renal neoplasm	The presence of a neoplasm of the kidney.
HP:0009727	Achromatic retinal patches	Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.
HP:0009728	Neoplasm of striated muscle	A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.
HP:0009729	Cardiac rhabdomyoma	A benign tumor of cardiac striated muscle.
HP:0009730	Rhabdomyoma	A benign tumor of striated muscle.
HP:0009731	Cerebral hamartoma	The presence of a hamartoma of the cerebrum.
HP:0009732	Plexiform neurofibroma	A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.
HP:0009733	Glioma	The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
HP:0009734	Optic nerve glioma	A glioma originating in the optic nerve or optic chiasm.
HP:0009735	Spinal neurofibromas	Neurofibromas originating in the spine.
HP:0009736	Tibial pseudarthrosis	Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.
HP:0009737	Lisch nodules	The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
HP:0009738	Abnormal antihelix morphology	An abnormality of the antihelix.
HP:0009739	Hypoplasia of the antihelix	Developmental hypoplasia of the antihelix.
HP:0009740	Aplasia of the parotid gland	Absence of the parotid gland.
HP:0009741	Nephrosclerosis	Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.
HP:0009742	Stiff shoulders	Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.
HP:0009743	Distichiasis	Double rows of eyelashes.
HP:0009744	Abnormal spinal dura mater morphology	An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.
HP:0009745	Spinal arachnoid cyst	Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.
HP:0009746	Thick nasal septum	Abnormally increased thickness of the nasal septum.
HP:0009747	Lumbosacral hirsutism	Abnormally increased hair growth in the lumbosacral region.
HP:0009748	Large earlobe	Increased volume of the earlobe, that is, abnormally prominent ear lobules.
HP:0009751	Aplasia of the pectoralis major muscle	Absence of the pectoralis major muscle.
HP:0009752	Cleft in skull base	A bony defect in the skull base.
HP:0009754	Fibrous syngnathia	Complete or nearly complete soft tissue fusion of the alveolar ridges.
HP:0009755	Ankyloblepharon	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
HP:0009756	Popliteal pterygium	A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).
HP:0009757	Intercrural pterygium	A pterygium (or pterygia) in the intercrural (groin) region.
HP:0009758	Pyramidal skinfold extending from the base to the top of the nails	Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.
HP:0009759	Neck pterygia	Pterygia affecting the neck.
HP:0009760	Antecubital pterygium	Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.
HP:0009761	Anterior clefting of vertebral bodies	Anterior schisis (cleft or cleavage) of vertebral bodies.
HP:0009762	Facial wrinkling	Excessive wrinkling of the skin of the face.
HP:0009763	Limb pain	Chronic pain in the limbs with no clear focal etiology.
HP:0009765	Low hanging columella	Columella extending inferior to the level of the nasal base, when viewed from the side.
HP:0009767	Aplasia/Hypoplasia of the phalanges of the hand	Small or missing phalangeal bones of the fingers of the hand.
HP:0009768	Broad phalanges of the hand	Increased width of the phalanges of the hand.
HP:0009769	Bullet-shaped phalanges of the hand	The presence of short and wide phalanges which taper distally ("bullet shaped").
HP:0009770	Curved phalanges of the hand	
HP:0009771	Osteolytic defects of the phalanges of the hand	Dissolution or degeneration of bone tissue of the phalanges of the hand.
HP:0009772	Patchy sclerosis of finger phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.
HP:0009773	Symphalangism affecting the phalanges of the hand	Fusion of two or more phalangeal bones of the hand.
HP:0009774	Triangular shaped phalanges of the hand	
HP:0009775	Amniotic constriction ring	Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.
HP:0009776	Adactyly	The absence of all phalanges of all the digits of a limb and the associated soft tissues.
HP:0009777	Absent thumb	Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
HP:0009778	Short thumb	Hypoplasia (congenital reduction in size) of the thumb.
HP:0009779	3-4 toe syndactyly	Syndactyly with fusion of toes three and four.
HP:0009780	Iliac horns	Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.
HP:0009781	Lester's sign	A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.
HP:0009782	Aplasia/Hypoplasia of the biceps	Absence or underdevelopment of the biceps muscle.
HP:0009783	Biceps aplasia	Absence of the biceps muscle.
HP:0009784	Aplasia/Hypoplasia of the triceps	Absence or underdevelopment of the triceps muscle.
HP:0009785	Triceps aplasia	Absence of the triceps muscle.
HP:0009786	Aplasia/Hypoplasia of the musculature of the thigh	Absence or underdevelopment involving the musculature of the thigh.
HP:0009787	Aplasia/Hypoplasia of the quadriceps	Absence or underdevelopment of the quadriceps muscle.
HP:0009788	Quadriceps aplasia	Absence of the quadriceps muscle.
HP:0009789	Perianal abscess	The presence of an abscess located around the anus.
HP:0009790	Hemisacrum	A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.
HP:0009791	Bifid sacrum	Presence of a bifid sacral bone.
HP:0009792	Teratoma	The presence of a teratoma.
HP:0009793	Presacral teratoma	A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).
HP:0009794	Branchial anomaly	Congenital developmental defect arising from the primitive branchial apparatus.
HP:0009795	Branchial fistula	A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
HP:0009796	Branchial cyst	A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.
HP:0009797	Cholesteatoma	Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
HP:0009798	Euthyroid goiter	A goiter that is not associated with functional thyroid abnormalities.
HP:0009799	Supernumerary spleens	The presence of two or more accessory spleens.
HP:0009800	Maternal diabetes	Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
HP:0009802	Aplasia of the phalanges of the hand	Absence of one or more of the phalanges of the hand.
HP:0009803	Short phalanx of finger	Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
HP:0009804	Tooth agenesis	The absence of one or more teeth from the normal series by a failure to develop
HP:0009805	Low-output congestive heart failure	A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.
HP:0009806	Nephrogenic diabetes insipidus	A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).
HP:0009808	Anomaly of the upper limb diaphyses	A structural abnormality of a diaphysis of the arm.
HP:0009809	Abnormal upper limb metaphysis morphology	An anomaly of one or more metaphyses of the arms.
HP:0009810	Abnormality of upper limb joint	
HP:0009811	Abnormality of the elbow	An anomaly of the joint that connects the upper and the lower arm.
HP:0009812	Amelia involving the upper limbs	Amelia of one or both upper limbs.
HP:0009813	Upper limb phocomelia	Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
HP:0009814	Upper limb peromelia	Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.
HP:0009815	Aplasia/hypoplasia of the extremities	Absence (due to failure to form) or underdevelopment of the extremities.
HP:0009816	Lower limb undergrowth	Leg shortening because of underdevelopment of one or more bones of the lower extremity.
HP:0009817	Aplasia involving bones of the lower limbs	
HP:0009818	Amelia involving the lower limbs	Amelia of one or both legs.
HP:0009819	Lower limb phocomelia	Phocomelia affecting only the lower limbs.
HP:0009820	Lower limb peromelia	Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
HP:0009821	Forearm undergrowth	Forearm shortening because of underdevelopment of one or more bones of the forearm.
HP:0009822	Aplasia involving forearm bones	
HP:0009823	Aplasia involving bones of the upper limbs	
HP:0009824	Upper limb undergrowth	Arm shortening because of underdevelopment of one or more bones of the upper extremity.
HP:0009825	Aplasia involving bones of the extremities	
HP:0009826	Limb undergrowth	Limb shortening because of underdevelopment of one or more bones of the extremities.
HP:0009827	Amelia	Congenital absence (aplasia) of one or more limbs.
HP:0009828	Peromelia	The distal parts of the limbs are missing leading to a stump formation.
HP:0009829	Phocomelia	Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
HP:0009830	Peripheral neuropathy	Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
HP:0009831	Mononeuropathy	A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.
HP:0009832	Abnormal distal phalanx morphology of finger	Any anomaly of distal phalanx of finger.
HP:0009833	Abnormal middle phalanx morphology of the hand	An anomaly of middle phalanx of finger.
HP:0009834	Abnormal proximal phalanx morphology of the hand	
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	Absence or underdevelopment of the distal phalanges.
HP:0009836	Broad distal phalanx of finger	Abnormally wide (broad) distal phalanx of finger.
HP:0009837	Bullet-shaped distal phalanges of the hand	Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009838	Curved distal phalanges of the hand	
HP:0009839	Osteolytic defects of the distal phalanges of the hand	
HP:0009840	Patchy sclerosis of distal phalanx of finger	Uneven (irregular) increase in bone density of the distal phalanges of the hand.
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	
HP:0009844	Broad middle phalanx of finger	Increased width of the middle phalanx of finger.
HP:0009845	Bullet-shaped middle phalanges of the hand	Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009846	Curved middle phalanges of the hand	
HP:0009847	Osteolytic defects of the middle phalanges of the hand	
HP:0009848	Patchy sclerosis of middle phalanx of finger	Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.
HP:0009849	Symphalangism of middle phalanx of finger	Fusion of a middle phalanx of a finger with another bone.
HP:0009850	Triangular shaped middle phalanges of the hand	
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	
HP:0009852	Broad proximal phalanges of the hand	Increased width of the proximal phalanges of the finger.
HP:0009853	Bullet-shaped proximal phalanges of the hand	Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009854	Curved proximal phalanges of the hand	
HP:0009855	Osteolytic defects of the proximal phalanges of the hand	
HP:0009856	Patchy sclerosis of proximal phalanx of finger	Uneven increase in bone density of the proximal phalanges of the hand.
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	
HP:0009858	Triangular shaped proximal phalanges of the hand	
HP:0009875	Triangular shaped distal phalanges of the hand	
HP:0009878	Cerebellar ataxia associated with quadrupedal gait	The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).
HP:0009879	Simplified gyral pattern	An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
HP:0009880	Broad distal phalanges of all fingers	Abnormally wide (broad) distal phalanx of finger of all fingers.
HP:0009881	Aplasia of the distal phalanges of the hand	
HP:0009882	Short distal phalanx of finger	Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
HP:0009883	Duplication of the distal phalanx of hand	This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0009884	Tapered distal phalanges of finger	A reduction in diameter of the distal phalanx of finger towards the distal end.
HP:0009886	Trichorrhexis nodosa	Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
HP:0009887	Abnormality of hair pigmentation	An abnormality of hair pigmentation (color).
HP:0009888	Abnormality of secondary sexual hair	Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.
HP:0009889	Localized hirsutism	Abnormally increased hair growth with a localized distribution.
HP:0009890	High anterior hairline	Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.
HP:0009891	Underdeveloped supraorbital ridges	Flatness of the supraorbital portion of the frontal bones.
HP:0009892	Anotia	Complete absence of any auricular structures.
HP:0009893	Telangiectasia of the ear	The presence of telangiectasia of the ear.
HP:0009894	Thickened ears	Increased thickness of the external ear.
HP:0009895	Abnormality of the crus of the helix	An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.
HP:0009896	Abnormal antitragus morphology	An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.
HP:0009897	Horizontal crus of helix	An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.
HP:0009898	Underdeveloped crus of the helix	Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.
HP:0009899	Prominent crus of helix	The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.
HP:0009900	Unilateral deafness	A unilateral absence of sensory perception of sound.
HP:0009901	Crumpled ear	Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
HP:0009902	Cleft helix	A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.
HP:0009903	Conjunctival nodule	Presence of nodules in the conjunctiva of the eye.
HP:0009904	Prominent ear helix	Abnormally prominent ear helix.
HP:0009905	Thin ear helix	Decreased thickness of the helix of the ear.
HP:0009906	Aplasia/Hypoplasia of the earlobes	Absence or underdevelopment of the ear lobes.
HP:0009907	Attached earlobe	Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.
HP:0009908	Anterior creases of earlobe	Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
HP:0009909	Uplifted earlobe	An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.
HP:0009910	Aplasia of the middle ear ossicles	Absence of the middle ear ossicles, malleus, incus, and stapes.
HP:0009911	Abnormal temporal bone morphology	Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.
HP:0009912	Abnormal tragus morphology	An abnormality of the tragus.
HP:0009913	Aplasia/Hypoplasia of the tragus	Aplasia or developmental hypoplasia of the tragus.
HP:0009914	Cyclopia	Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.
HP:0009915	Corneal asymmetry	The presence of a size difference between the left and right cornea.
HP:0009916	Anisocoria	Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
HP:0009917	Persistent pupillary membrane	The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
HP:0009918	Ectopia pupillae	A malposition of the pupil owing to a developmental defect of the iris.
HP:0009919	Retinoblastoma	A tumor of the eye originating from cells of the retina.
HP:0009920	Nevus of Ota	A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.
HP:0009921	Duane anomaly	A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction
HP:0009922	Vascular remnant arising from the disc	Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.
HP:0009924	Aplasia/Hypoplasia involving the nose	Underdevelopment or absence of the nose or parts thereof.
HP:0009926	Epiphora	Abnormally increased lacrimation, that is, excessive tearing (watering eye).
HP:0009927	Aplasia of the nose	Complete absence of all nasal structures.
HP:0009928	Thick nasal alae	Increase in bulk of the ala nasi.
HP:0009929	Abnormal columella morphology	A structural abnormality of the columella.
HP:0009930	Asymmetry of the nares	Asymmetry or size difference between the left and right nostril.
HP:0009931	Enlarged naris	Increased aperture of the nostril.
HP:0009932	Single naris	The presence of only a single nostril.
HP:0009933	Narrow naris	Slender, slit-like aperture of the nostril.
HP:0009934	Supernumerary naris	The presence of more than two nostrils.
HP:0009935	Aplasia/Hypoplasia of the nasal septum	Absence or underdevelopment of the nasal septum.
HP:0009936	Narrow nasal septum	Abnormally narrow nasal septum.
HP:0009937	Facial hirsutism	Excess facial hair.
HP:0009938	Sunken cheeks	Lack or loss of the soft tissues between the zygomata and mandible.
HP:0009939	Mandibular aplasia	Absence of the mandible.
HP:0009940	Asymmetry of the mandible	Lack of symmetry between the left and right mandible.
HP:0009941	Asymmetry of the mouth	The presence of an asymmetric mouth.
HP:0009942	Duplication of thumb phalanx	Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0009943	Complete duplication of thumb phalanx	A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0009944	Partial duplication of thumb phalanx	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0009945	Duplication of phalanx of 2nd finger	This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0009946	Polydactyly affecting the 2nd finger	
HP:0009947	Duplication of the proximal phalanx of the 2nd finger	Partial or complete duplication of the second proximal phalanx of hand.
HP:0009948	Duplication of the distal phalanx of the 2nd finger	Partial or complete duplication of the distal phalanx of index finger.
HP:0009949	Duplication of the middle phalanx of the 2nd finger	Partial or complete duplication of the middle phalanx of index finger.
HP:0009950	Complete duplication of the distal phalanx of the 2nd finger	Complete duplication of the distal phalanx of index finger.
HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009952	Complete duplication of the middle phalanx of the 2nd finger	Complete duplication of the middle phalanx of index finger.
HP:0009953	Partial duplication of the middle phalanx of the 2nd finger	Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009954	Complete duplication of the proximal phalanx of the 2nd finger	Complete duplication of the second proximal phalanx of hand.
HP:0009955	Partial duplication of the proximal phalanx of the 2nd finger	Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
HP:0009956	Partial duplication of the phalanges of the 2nd finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0009957	Complete duplication of the phalanges of the 2nd finger	A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0009958	Polydactyly affecting the 3rd finger	
HP:0009959	Duplication of phalanx of 3rd finger	This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0009960	Complete duplication of the phalanges of the 3rd finger	A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0009961	Partial duplication of the phalanges of the 3rd finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0009962	Duplication of the distal phalanx of the 3rd finger	Partial or complete duplication of the distal phalanx of middle finger.
HP:0009963	Duplication of the middle phalanx of the 3rd finger	Partial or complete duplication of the middle phalanx of middle finger.
HP:0009964	Duplication of the proximal phalanx of the 3rd finger	Partial or complete duplication of the third proximal phalanx of hand.
HP:0009965	Complete duplication of the distal phalanx of the 3rd finger	Complete duplication of the distal phalanx of middle finger
HP:0009966	Complete duplication of the middle phalanx of the 3rd finger	Complete duplication of the middle phalanx of middle finger.
HP:0009967	Complete duplication of the proximal phalanx of the 3rd finger	Complete duplication of the third proximal phalanx of hand.
HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009969	Partial duplication of the middle phalanx of the 3rd finger	Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009970	Partial duplication of the proximal phalanx of the 3rd finger	Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
HP:0009971	Polydactyly affecting the 4th finger	
HP:0009972	Duplication of phalanx of 4th finger	This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0009973	Complete duplication of the phalanges of the 4th finger	A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0009974	Partial duplication of the phalanges of the 4th finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0009975	Duplication of the distal phalanx of the 4th finger	Partial or complete duplication of the distal phalanx of ring finger.
HP:0009976	Duplication of the middle phalanx of the 4th finger	Partial or complete duplication of the middle phalanx of ring finger.
HP:0009977	Duplication of the proximal phalanx of the 4th finger	Partial or complete duplication of the fourth proximal phalanx of hand.
HP:0009978	Complete duplication of the distal phalanx of the 4th finger	Complete duplication of the distal phalanx of ring finger.
HP:0009979	Complete duplication of the middle phalanx of the 4th finger	Complete duplication of the middle phalanx of ring finger.
HP:0009980	Complete duplication of the proximal phalanx of the 4th finger	Complete duplication of the fourth proximal phalanx of hand.
HP:0009981	Partial duplication of the distal phalanx of the 4th finger	Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009982	Partial duplication of the middle phalanx of the 4th finger	Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009983	Partial duplication of the proximal phalanx of the 4th finger	Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
HP:0009985	Duplication of phalanx of 5th finger	This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0009986	Complete duplication of the phalanges of the 5th finger	A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0009987	Partial duplication of the phalanges of the 5th finger	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0009988	Duplication of the distal phalanx of the 5th finger	Partial or complete duplication of the distal phalanx of little finger.
HP:0009989	Duplication of the middle phalanx of the 5th finger	Partial or complete duplication of the fifth middle phalanx of hand.
HP:0009990	Duplication of the proximal phalanx of the 5th finger	Partial or complete duplication of the fifth proximal phalanx of hand.
HP:0009991	Complete duplication of the distal phalanx of the 5th finger	Complete duplication of the distal phalanx of little finger.
HP:0009992	Complete duplication of the middle phalanx of the 5th finger	Complete duplication of the fifth middle phalanx of hand.
HP:0009993	Complete duplication of the proximal phalanx of the 5th finger	Complete duplication of the fifth proximal phalanx of hand.
HP:0009994	Partial duplication of the distal phalanx of the 5th finger	Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.
HP:0009995	Partial duplication of the middle phalanx of the 5th finger	Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
HP:0009996	Partial duplication of the proximal phalanx of the 5th finger	Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
HP:0009997	Duplication of phalanx of hand	This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0009998	Complete duplication of phalanx of hand	A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0009999	Partial duplication of the phalanx of hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0010000	Complete duplication of the proximal phalanges of the hand	A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
HP:0010001	Complete duplication of the distal phalanges of the hand	A complete duplication affecting one or more of the distal phalanges of the hand.
HP:0010002	Complete duplication of the middle phalanges of the hand	A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.
HP:0010003	Partial duplication of the proximal phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0010004	Partial duplication of the distal phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0010005	Partial duplication of the middle phalanges of the hand	A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
HP:0010006	Duplication of the proximal phalanx of hand	This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0010008	Duplication of the middle phalanx of hand	This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
HP:0010009	Abnormal 1st metacarpal morphology	A structural anomaly of the first metacarpal.
HP:0010010	Abnormal 2nd metacarpal morphology	Any abnormality of the second metacarpal bone.
HP:0010011	Abnormal 3rd metacarpal morphology	Any abnormality of the third metacarpal bone.
HP:0010012	Abnormal 4th metacarpal morphology	Any abnormality of the fourth metacarpal bone.
HP:0010013	Abnormal 5th metacarpal morphology	Any abnormality of the fifth metacarpal bone.
HP:0010014	Abnormality of the epiphysis of the 1st metacarpal	In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.
HP:0010015	Absent epiphysis of the 1st metacarpal	
HP:0010016	Bracket epiphysis of the 1st metacarpal	An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.
HP:0010017	Cone-shaped epiphysis of the 1st metacarpal	A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.
HP:0010018	Enlarged epiphysis of the 1st metacarpal	Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.
HP:0010019	Fragmentation of the epiphysis of the 1st metacarpal	Epiphysis of the 1st metacarpal having multiple bony fragments.
HP:0010020	Irregular epiphysis of the 1st metacarpal	Uneven radiographic opacity of the epiphysis of the 1st metacarpal.
HP:0010021	Ivory epiphysis of the 1st metacarpal	The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.
HP:0010022	Pseudoepiphysis of the 1st metacarpal	The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.
HP:0010023	Small epiphysis of the 1st metacarpal	Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.
HP:0010024	Epiphyseal stippling of the first metacarpal	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.
HP:0010025	Triangular epiphysis of the 1st metacarpal	
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
HP:0010027	Broad 1st metacarpal	Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
HP:0010028	Bullet-shaped 1st metacarpal	The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").
HP:0010029	Curved 1st metacarpal	A deviation from the normal straight shape of the first metacarpal.
HP:0010030	Osteolytic defects of the 1st metacarpal	Dissolution or degeneration of bone tissue of the 1st metacarpal.
HP:0010031	Patchy sclerosis of the 1st metacarpal	Uneven increase in bone density within the 1st metacarpal.
HP:0010033	Triangular shaped 1st metacarpal	This term applies to a triangular shaped 1st metacarpal.
HP:0010034	Short 1st metacarpal	A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
HP:0010035	Aplasia of the 1st metacarpal	Absent first metacarpal (long bone) of the hand.
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	Aplasia or Hypoplasia affecting the 2nd metacarpal.
HP:0010037	Aplasia of the 2nd metacarpal	Absence of the second long bone of the hand.
HP:0010038	Short 2nd metacarpal	Short second metacarpal bone because of developmental hypoplasia.
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	Aplasia or Hypoplasia affecting the 3rd metacarpal.
HP:0010040	Aplasia of the 3rd metacarpal	Absence of the third long bone of the hand.
HP:0010041	Short 3rd metacarpal	Short third metacarpal bone.
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	Aplasia or Hypoplasia affecting the 4th metacarpal.
HP:0010043	Aplasia of the 4th metacarpal	Absence of the fourth long bone of the hand.
HP:0010044	Short 4th metacarpal	Short fourth metacarpal bone.
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	Aplasia or Hypoplasia affecting the 5th metacarpal.
HP:0010046	Aplasia of the 5th metacarpal	Absence of the fifth long bone of the hand.
HP:0010047	Short 5th metacarpal	Short fifth metacarpal bone.
HP:0010048	Aplasia of metacarpal bones	Developmental defect associated with absence of one or more metacarpal bones.
HP:0010049	Short metacarpal	Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
HP:0010051	Deviation of the hallux	Displacement of the big toe from its normal position.
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	An abnormal shape or form of the proximal phalanx of the big toe.
HP:0010053	Abnormality of the distal phalanx of the hallux	
HP:0010054	Abnormality of the first metatarsal bone	An anomaly of the first metatarsal bone.
HP:0010055	Broad hallux	Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
HP:0010056	Abnormality of the epiphyses of the hallux	
HP:0010057	Abnormal hallux phalanx morphology	
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	
HP:0010059	Broad hallux phalanx	An increase in width in one or more phalanges of the big toe.
HP:0010060	Bullet-shaped hallux phalanx	An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010061	Curved hallux phalanx	A deviation from the normal straight form of one or more phalanges of the big toe.
HP:0010062	Osteolytic defects of the phalanges of the hallux	
HP:0010063	Patchy sclerosis of hallux phalanx	Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010064	Symphalangism affecting the phalanges of the hallux	
HP:0010065	Triangular shaped phalanges of the hallux	
HP:0010066	Duplication of phalanx of hallux	Partial or complete duplication of one or more phalanx of big toe.
HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	Absence or underdevelopment of the first metatarsal bone.
HP:0010068	Broad first metatarsal	Increased side-to-side width of the first metatarsal bone.
HP:0010069	Bullet-shaped 1st metatarsal	An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.
HP:0010070	Curved 1st metatarsal	A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.
HP:0010071	Osteolytic defects of the 1st metatarsal	Dissolution or degeneration of bone tissue of the first metatarsal.
HP:0010072	Patchy sclerosis of the 1st metatarsal	
HP:0010073	Synostosis involving the 1st metatarsal	
HP:0010074	Triangular shaped 1st metatarsal	
HP:0010075	Duplication of the 1st metatarsal	A developmental defect consisting in the duplication of the first metatarsal bone.
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	
HP:0010077	Broad distal phalanx of the hallux	An increase in width of the distal phalanx of the big toe.
HP:0010078	Bullet-shaped distal phalanx of the hallux	An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010079	Curved distal phalanx of the hallux	A deviation from the normal straight form of the distal phalanx of the big toe.
HP:0010080	Osteolytic defects of the distal phalanx of the hallux	
HP:0010081	Patchy sclerosis of the distal phalanx of the hallux	
HP:0010082	Symphalangism affecting the distal phalanx of the hallux	
HP:0010083	Triangular shaped distal phalanx of the hallux	
HP:0010084	Duplication of the distal phalanx of the hallux	
HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	
HP:0010086	Broad proximal phalanx of the hallux	Increased width of proximal phalanx of big toe.
HP:0010087	Bullet-shaped proximal phalanx of the hallux	An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010088	Curved proximal phalanx of the hallux	A deviation from the normal straight form of the proximal phalanx of the big toe.
HP:0010089	Osteolytic defects of the proximal phalanx of the hallux	
HP:0010090	Patchy sclerosis of the proximal phalanx of the hallux	
HP:0010091	Symphalangism affecting the proximal phalanx of the hallux	
HP:0010092	Triangular shaped proximal phalanx of the hallux	
HP:0010093	Duplication of the proximal phalanx of the hallux	Partial or complete duplication of the proximal phalanx of big toe.
HP:0010094	Complete duplication of the proximal phalanx of the hallux	Complete duplication of the proximal phalanx of big toe.
HP:0010095	Partial duplication of the proximal phalanx of the hallux	Partial duplication of the proximal phalanx of big toe.
HP:0010096	Complete duplication of the distal phalanx of the hallux	
HP:0010097	Partial duplication of the distal phalanx of the hallux	
HP:0010098	Complete duplication of the 1st metatarsal	A developmental defect consisting in the complete duplication of the first metatarsal bone.
HP:0010099	Partial duplication of the 1st metatarsal	A developmental defect consisting in the duplication of part of the first metatarsal bone.
HP:0010100	Complete duplication of hallux phalanx	Complete duplication of one or more phalanx of big toe.
HP:0010101	Partial duplication of the phalanges of the hallux	
HP:0010102	Aplasia of the distal phalanx of the hallux	
HP:0010103	Short distal phalanx of hallux	Underdevelopment (hypoplasia) of the distal phalanx of big toe.
HP:0010104	Absent first metatarsal	A developmental defect characterized by the absence of the first metatarsal bone.
HP:0010105	Short first metatarsal	Short first metatarsal bone.
HP:0010106	Aplasia of the proximal phalanx of the hallux	
HP:0010107	Short proximal phalanx of hallux	Underdevelopment (hypoplasia) of the proximal phalanx of big toe.
HP:0010109	Short hallux	Underdevelopment (hypoplasia) of the big toe.
HP:0010110	Aplasia of the phalanges of the hallux	
HP:0010111	Short phalanx of hallux	Underdevelopment (hypoplasia) of a phalanx of big toe.
HP:0010112	Mesoaxial foot polydactyly	The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
HP:0010113	Absent hallux epiphysis	Failure to form (agenesis) of one or more epiphyses of the big toe.
HP:0010114	Bracket epiphyses of the hallux	
HP:0010115	Cone-shaped epiphyses of the hallux	
HP:0010116	Enlarged epiphyses of the hallux	
HP:0010117	Fragmentation of the epiphyses of the hallux	
HP:0010118	Irregular epiphyses of the hallux	
HP:0010119	Ivory epiphyses of the hallux	
HP:0010120	Pseudoepiphyses of the hallux	
HP:0010121	Small epiphyses of the hallux	
HP:0010122	Stippling of the epiphyses of the hallux	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.
HP:0010123	Triangular epiphyses of the hallux	
HP:0010124	Abnormality of the epiphysis of the distal phalanx of the hallux	
HP:0010125	Abnormality of the epiphysis of the 1st metatarsal	In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.
HP:0010126	Abnormality of the epiphysis of the proximal phalanx of the hallux	In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.
HP:0010127	Absent epiphysis of the proximal phalanx of the hallux	Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.
HP:0010128	Bracket epiphysis of the proximal phalanx of the hallux	The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.
HP:0010129	Cone-shaped epiphysis of the proximal phalanx of the hallux	
HP:0010130	Enlarged epiphysis of the proximal phalanx of the hallux	
HP:0010131	Fragmentation of the epiphysis of the proximal phalanx of the hallux	
HP:0010132	Irregular epiphysis of the proximal phalanx of the hallux	
HP:0010133	Ivory epiphysis of the proximal phalanx of the hallux	
HP:0010134	Pseudoepiphysis of the proximal phalanx of the hallux	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe.
HP:0010135	Small epiphysis of the proximal phalanx of the hallux	
HP:0010136	Stippling of the epiphysis of the proximal phalanx of the hallux	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.
HP:0010137	Triangular epiphysis of the proximal phalanx of the hallux	
HP:0010138	Absent epiphysis of the distal phalanx of the hallux	Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.
HP:0010139	Bracket epiphysis of the distal phalanx of the hallux	The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.
HP:0010140	Cone-shaped epiphysis of the distal phalanx of the hallux	
HP:0010141	Enlarged epiphysis of the distal phalanx of the hallux	
HP:0010142	Fragmentation of the epiphysis of the distal phalanx of the hallux	
HP:0010143	Irregular epiphysis of the distal phalanx of the hallux	
HP:0010144	Ivory epiphysis of the distal phalanx of the hallux	
HP:0010145	Pseudoepiphysis of the distal phalanx of the hallux	
HP:0010146	Small epiphysis of the distal phalanx of the hallux	
HP:0010147	Stippling of the epiphysis of the distal phalanx of the hallux	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.
HP:0010148	Triangular epiphysis of the distal phalanx of the hallux	
HP:0010149	Absent epiphysis of the 1st metatarsal	Failure to form (agenesis) of the epiphysis of the 1st metatarsal.
HP:0010150	Bracket epiphysis of the 1st metatarsal	The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.
HP:0010151	Cone-shaped epiphysis of the 1st metatarsal	A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.
HP:0010152	Enlarged epiphysis of the 1st metatarsal	
HP:0010153	Fragmentation of the epiphysis of the 1st metatarsal	
HP:0010154	Irregular epiphysis of the 1st metatarsal	
HP:0010155	Ivory epiphysis of the 1st metatarsal	The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.
HP:0010156	Pseudoepiphysis of the 1st metatarsal	
HP:0010157	Small epiphysis of the 1st metatarsal	
HP:0010158	Stippling of the epiphysis of the 1st metatarsal	
HP:0010159	Triangular epiphysis of the 1st metatarsal	
HP:0010160	Abnormal toe epiphysis morphology	
HP:0010161	Abnormal toe phalanx morphology	
HP:0010162	Absent epiphyses of the toes	Absence of the epiphyses of the phalanges of the toes.
HP:0010163	Bracket epiphyses of the toes	
HP:0010164	Cone-shaped epiphyses of the toes	
HP:0010165	Enlarged epiphyses of the toes	
HP:0010166	Fragmentation of the epiphyses of the toes	
HP:0010167	Irregular epiphyses of the toes	
HP:0010168	Ivory epiphyses of the toes	
HP:0010169	Pseudoepiphyses of the toes	
HP:0010170	Small epiphyses of the toes	
HP:0010171	Epiphyseal stippling of toe phalanges	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.
HP:0010172	Triangular epiphyses of the toes	
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	
HP:0010174	Broad phalanx of the toes	Increased width of phalanx of one or more toes.
HP:0010175	Bullet-shaped toe phalanx	An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010176	Curved toe phalanx	A deviation from the normal straight form of one or more toe phalanges.
HP:0010177	Osteolytic defects of the phalanges of the toes	
HP:0010178	Patchy sclerosis of toe phalanx	Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.
HP:0010179	Symphalangism affecting the phalanges of the toes	
HP:0010180	Triangular shaped phalanges of the toes	
HP:0010181	Duplication of phalanx of toe	Partial/complete duplication of one or more phalanx of toe.
HP:0010182	Abnormality of the distal phalanges of the toes	
HP:0010183	Abnormality of the middle phalanges of the toes	
HP:0010184	Abnormality of toe proximal phalanx	A morphological anomaly of one or more proximal phalanges of one or more toes.
HP:0010185	Aplasia/Hypoplasia of the distal phalanges of the toes	Absence or underdevelopment of the distal phalanges of the toes.
HP:0010186	Broad distal phalanx of the toes	Increased width of the distal phalanx of toe of one or more toes.
HP:0010187	Bullet-shaped distal toe phalanx	An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010188	Curved distal toe phalanx	A deviation from the normal straight form of one or more distal toe phalanges.
HP:0010189	Osteolytic defects of the distal phalanges of the toes	
HP:0010190	Patchy sclerosis of distal toe phalanx	Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010191	Symphalangism affecting the distal phalanges of the toes	
HP:0010192	Triangular shaped distal phalanges of the toes	
HP:0010193	Duplication of distal phalanx of toe	A partial or complete duplication of one or more distal phalanx of toe.
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	
HP:0010195	Broad middle phalanges of the toes	
HP:0010196	Bullet-shaped middle toe phalanx	An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010197	Curved middle toe phalanx	A deviation from the normal straight form of one or more middle toe phalanges.
HP:0010198	Osteolytic defects of the middle phalanges of the toes	
HP:0010199	Patchy sclerosis of middle toe phalanx	Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010200	Symphalangism affecting the middle phalanges of the toes	
HP:0010201	Triangular shaped middle phalanges of the toes	
HP:0010202	Duplication of middle phalanx of toe	Partial or complete duplication of a middle phalanx of toe.
HP:0010203	Aplasia/hypoplasia of proximal toe phalanx	Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.
HP:0010204	Broad proximal phalanx of toe	An increase in width of one ore more proximal toe phalanges.
HP:0010205	Bullet-shaped proximal toe phalanx	An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010206	Curved proximal toe phalanx	A deviation from the normal straight shape of a proximal phalanx of one or more toes.
HP:0010207	Osteolytic defect of the proximal toe phalanx	Dissolution or degeneration of bone tissue of the proximal toe phalanx.
HP:0010208	Patchy sclerosis of proximal toe phalanx	Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010209	Symphalangism affecting the proximal phalanges of the toes	
HP:0010210	Triangular shaped proximal phalanges of the toes	
HP:0010211	Duplication of proximal phalanx of toe	Partial/complete duplication of a proximal phalanx of toe.
HP:0010212	Flexion contracture of the hallux	One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.
HP:0010213	Contracture of the tarsometatarsal joint of the hallux	Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.
HP:0010214	Contracture of the interphalangeal joint of the hallux	The interphalangeal joint of the big toe cannot be straightened actively or passively.
HP:0010215	Contractures of the metatarsophalangeal joint of the hallux	The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.
HP:0010219	Structural foot deformity	A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.
HP:0010220	Abnormality of the epiphysis of the 2nd metacarpal	Any abnormality of the epiphysis of the second metacarpal bone.
HP:0010222	Abnormality of the epiphysis of the 3rd metacarpal	Any abnormality of the epiphysis of the third metacarpal bone.
HP:0010223	Pseudoepiphysis of the 3rd metacarpal	The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
HP:0010224	Abnormality of the epiphysis of the 4th metacarpal	Any abnormality of the epiphysis of the 4th metacarpal bone.
HP:0010225	Pseudoepiphysis of the 4th metacarpal	The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
HP:0010226	Abnormality of the epiphysis of the 5th metacarpal	Any abnormality of the epiphysis of the fifth metacarpal bone.
HP:0010227	Pseudoepiphysis of the 5th metacarpal	The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
HP:0010228	Absent epiphyses of the phalanges of the hand	Absence of one or more epiphyses of the phalanges of the fingers.
HP:0010229	Bracket epiphyses of the phalanges of the hand	Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0010230	Cone-shaped epiphyses of the phalanges of the hand	A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
HP:0010231	Enlarged epiphyses of the phalanges of the hand	Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.
HP:0010232	Fragmentation of the epiphyses of the phalanges of the hand	Fragmented appearance of the epiphyses of the phalanges of the fingers.
HP:0010233	Irregular epiphyses of the phalanges of the hand	Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.
HP:0010234	Ivory epiphyses of the phalanges of the hand	Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0010235	Pseudoepiphyses of the phalanges of the hand	A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0010236	Small epiphyses of the phalanges of the hand	Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.
HP:0010237	Epiphyseal stippling of finger phalanges	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.
HP:0010238	Triangular epiphyses of the phalanges of the hand	A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.
HP:0010239	Aplasia of the middle phalanx of the hand	Absence of one or more middle phalanx of a finger.
HP:0010241	Short proximal phalanx of finger	Congenital hypoplasia of one or more proximal phalanx of finger.
HP:0010242	Aplasia of the proximal phalanges of the hand	
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	Any anomaly of distal epiphysis of phalanx of finger.
HP:0010244	Abnormality of the epiphyses of the middle phalanges of the hand	
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	
HP:0010246	Absent epiphyses of the distal phalanges of the hand	
HP:0010247	Bracket epiphyses of the distal phalanges of the hand	An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0010248	Cone-shaped epiphyses of the distal phalanges of the hand	
HP:0010249	Enlarged epiphyses of the distal phalanges of the hand	
HP:0010250	Fragmentation of the epiphyses of the distal phalanges of the hand	
HP:0010251	Irregular epiphyses of the distal phalanges of the hand	
HP:0010252	Ivory epiphyses of the distal phalanges of the hand	Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0010253	Pseudoepiphyses of the distal phalanges of the hand	A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0010254	Small epiphyses of the distal phalanges of the hand	
HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	
HP:0010256	Triangular epiphyses of the distal phalanges of the hand	
HP:0010257	Absent epiphyses of the middle phalanges of the hand	
HP:0010258	Bracket epiphyses of the middle phalanges of the hand	An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0010259	Cone-shaped epiphyses of the middle phalanges of the hand	
HP:0010260	Enlarged epiphyses of the middle phalanges of the hand	
HP:0010261	Fragmentation of the epiphyses of the middle phalanges of the hand	Fragmented appearance of the epiphyses of the middle phalanges of the hand.
HP:0010262	Irregular epiphyses of the middle phalanges of the hand	
HP:0010263	Ivory epiphyses of the middle phalanges of the hand	Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0010264	Pseudoepiphyses of the middle phalanges of the hand	A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0010265	Small epiphyses of the middle phalanges of the hand	
HP:0010266	Stippling of the epiphyses of the middle phalanges of the hand	
HP:0010267	Triangular epiphyses of the middle phalanges of the hand	
HP:0010268	Absent epiphyses of the proximal phalanges of the hand	
HP:0010269	Bracket epiphyses of the proximal phalanges of the hand	An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
HP:0010270	Cone-shaped epiphyses of the proximal phalanges of the hand	
HP:0010271	Enlarged epiphyses of the proximal phalanges of the hand	
HP:0010272	Fragmentation of the epiphyses of the proximal phalanges of the hand	
HP:0010273	Irregular epiphyses of the proximal phalanges of the hand	
HP:0010274	Ivory epiphyses of the proximal phalanges of the hand	Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0010275	Pseudoepiphyses of the proximal phalanges of the hand	A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
HP:0010276	Small epiphyses of the proximal phalanges of the hand	
HP:0010277	Stippling of the epiphyses of the proximal phalanges of the hand	
HP:0010278	Triangular epiphyses of the proximal phalanges of the hand	
HP:0010280	Stomatitis	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
HP:0010281	Cleft lower lip	A gap in the lower lip.
HP:0010282	Thin lower lip vermilion	Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).
HP:0010284	Intra-oral hyperpigmentation	Increased pigmentation, either focal or generalized, of the mucosa of the mouth.
HP:0010285	Oral synechia	Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.
HP:0010286	Abnormal salivary gland morphology	Any abnormality of the salivary glands, the exocrine glands that produce saliva.
HP:0010287	Abnormality of the submandibular glands	Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.
HP:0010288	Abnormality of the sublingual glands	Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.
HP:0010289	Cleft maxillary alveolar ridge	A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.
HP:0010290	Short hard palate	Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).
HP:0010291	Prominent palatine ridges	Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.
HP:0010292	Absent uvula	Lack of the uvula.
HP:0010293	Aplasia/Hypoplasia of the uvula	Underdevelopment or absence of the uvula.
HP:0010294	Palate fistula	A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.
HP:0010295	Aplasia/Hypoplasia of the tongue	Absence or underdevelopment of the tongue.
HP:0010296	Ankyloglossia	Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
HP:0010297	Bifid tongue	Tongue with a median apical indentation or fork.
HP:0010298	Smooth tongue	Glossy appearance of the entire tongue surface.
HP:0010299	Abnormal dentin morphology	Any abnormality of dentin.
HP:0010300	Abnormally low-pitched voice	An abnormally low-pitched voice.
HP:0010301	Spinal dysraphism	A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
HP:0010302	Spinal cord tumor	A neoplasm affecting the spinal cord.
HP:0010303	Abnormal spinal meningeal morphology	Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.
HP:0010304	Spinal meningeal diverticulum	An outpouching of the spinal meninges.
HP:0010305	Absence of the sacrum	Absence (aplasia) of the sacrum.
HP:0010306	Short thorax	Reduced inferior to superior extent of the thorax.
HP:0010307	Stridor	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
HP:0010308	Asternia	The congenital absence of the sternum.
HP:0010309	Bifid sternum	The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.
HP:0010310	Chylothorax	Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
HP:0010311	Aplasia/Hypoplasia of the breasts	Absence or underdevelopment of the breasts.
HP:0010312	Asymmetry of the breasts	The presence of asymmetrical breasts.
HP:0010313	Breast hypertrophy	The presence of hypertrophy of the breast.
HP:0010314	Premature thelarche	Premature development of the breasts.
HP:0010315	Aplasia/Hypoplasia of the diaphragm	Absence or underdevelopment of the diaphragm.
HP:0010316	Ebstein anomaly of the tricuspid valve	Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.
HP:0010317	Scapular aplasia	Absence of the scapulae.
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	Absence or underdevelopment of the abdominal musculature.
HP:0010319	Abnormal second toe morphology	An anomaly of the second toe.
HP:0010320	Abnormal third toe morphology	An anomaly of the third toe.
HP:0010321	Abnormal fourth toe morphology	An anomaly of the fourth toe.
HP:0010322	Abnormal fifth toe morphology	An anomaly of the little toe.
HP:0010323	Abnormality of the epiphyses of the 2nd toe	
HP:0010324	Abnormal morphology of phalanx of the 2nd toe	An anomaly of a phalanx of second toe.
HP:0010325	Aplasia/Hypoplasia of the 2nd toe	
HP:0010326	Deviation of the 2nd toe	
HP:0010327	Flexion contracture of the 2nd toe	One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.
HP:0010328	Polydactyly affecting the 2nd toe	
HP:0010329	Abnormality of the epiphyses of the 3rd toe	
HP:0010330	Abnormality of the phalanges of the 3rd toe	
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	
HP:0010332	Deviation of the 3rd toe	
HP:0010333	Flexion contracture of 3rd toe	One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.
HP:0010334	Polydactyly affecting the 3rd toe	
HP:0010335	Abnormality of the epiphyses of the 4th toe	
HP:0010336	Abnormality of the phalanges of the 4th toe	
HP:0010337	Aplasia/Hypoplasia of the 4th toe	
HP:0010338	Deviation of the 4th toe	
HP:0010339	Flexion contracture of the 4th toe	One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.
HP:0010340	Polydactyly affecting the 4th toe	
HP:0010341	Abnormality of the epiphyses of the 5th toe	
HP:0010342	Abnormality of the phalanges of the 5th toe	
HP:0010343	Aplasia/Hypoplasia of the 5th toe	
HP:0010344	Deviation of the 5th toe	
HP:0010345	Flexion contracture of the 5th toe	One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.
HP:0010347	Aplasia/Hypoplasia of the phalanges of the 2nd toe	
HP:0010348	Broad phalanges of the 2nd toe	
HP:0010349	Bullet-shaped 2nd toe phalanx	An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010350	Curved 2nd toe phalanx	A deviation from the normal straight form of one or more phalanges of the second toe.
HP:0010351	Osteolytic defects of the phalanges of the 2nd toe	
HP:0010352	Patchy sclerosis of 2nd toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010353	Second toe symphalangism	Fusion of the interphalangeal joints of the 2nd toe.
HP:0010354	Triangular shaped phalanges of the 2nd toe	
HP:0010355	Duplication of the phalanges of the 2nd toe	Partial or complete duplication of a phalanx of second toe.
HP:0010356	Abnormality of the distal phalanx of the 2nd toe	
HP:0010357	Abnormality of the middle phalanx of the 2nd toe	
HP:0010358	Abnormal morphology of the proximal phalanx of the 2nd toe	
HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	
HP:0010360	Broad phalanges of the 3rd toe	
HP:0010361	Bullet-shaped 3rd toe phalanx	An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010362	Curved 3rd toe phalanx	A deviation from the normal straight form of one or more phalanges of the third toe.
HP:0010363	Osteolytic defects of the phalanges of the 3rd toe	
HP:0010364	Patchy sclerosis of 3rd toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010365	Symphalangism affecting the phalanges of the 3rd toe	
HP:0010366	Triangular shaped phalanges of the 3rd toe	
HP:0010367	Duplication of phalanx of the 3rd toe	Partial or complete duplication of phalanx of third toe.
HP:0010368	Abnormality of the distal phalanx of the 3rd toe	
HP:0010369	Abnormality of the middle phalanx of the 3rd toe	
HP:0010370	Abnormal morphology of the proximal phalanx of the 3rd toe	An anomaly of the proximal phalanx of third toe.
HP:0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	
HP:0010372	Broad phalanges of the 4th toe	
HP:0010373	Bullet-shaped 4th toe phalanx	An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010374	Curved 4th toe phalanx	A deviation from the normal straight form of one or more phalanges of the fourth toe.
HP:0010375	Osteolytic defects of the phalanges of the 4th toe	
HP:0010376	Patchy sclerosis of 4th toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010377	Symphalangism affecting the phalanges of the 4th toe	
HP:0010378	Triangular shaped phalanges of the 4th toe	
HP:0010379	Duplication of phalanx of the 4th toe	Partial or complete duplication of phalanx of fourth toe.
HP:0010380	Abnormality of the distal phalanx of the 4th toe	
HP:0010381	Abnormality of the middle phalanx of the 4th toe	
HP:0010382	Abnormal morphology of the proximal phalanx of the 4th toe	
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	
HP:0010384	Broad phalanges of the 5th toe	
HP:0010385	Bullet-shaped 5th toe phalanx	An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010386	Curved 5th toe phalanx	A deviation from the normal straight form of one or more phalanges of the fifth toe.
HP:0010387	Osteolytic defects of the phalanges of the 5th toe	
HP:0010388	Patchy sclerosis of 5th toe phalanx	Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010389	Symphalangism affecting the phalanges of the 5th toe	
HP:0010390	Triangular shaped phalanges of the 5th toe	
HP:0010391	Duplication of the phalanges of the 5th toe	Partial or complete duplication of one or more phalanx of little toe.
HP:0010392	Abnormality of the distal phalanx of the 5th toe	
HP:0010393	Abnormality of the middle phalanx of the 5th toe	
HP:0010394	Abnormal morphology of the proximal phalanx of the 5th toe	
HP:0010395	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.
HP:0010396	Broad proximal phalanx of the 2nd toe	
HP:0010397	Bullet-shaped proximal phalanx of the 2nd toe	An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010398	Curved proximal phalanx of the 2nd toe	A deviation from the normal straight form of the proximal phalanx of the 2nd toe.
HP:0010399	Osteolytic defects of the proximal phalanx of the 2nd toe	
HP:0010400	Patchy sclerosis of the proximal phalanx of the 2nd toe	
HP:0010401	Symphalangism affecting the proximal phalanx of the 2nd toe	
HP:0010402	Triangular shaped proximal phalanx of the 2nd toe	
HP:0010403	Duplication of the proximal phalanx of the 2nd toe	Partial or complete duplication of proximal phalanx of second toe.
HP:0010404	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe	
HP:0010405	Broad middle phalanx of the 2nd toe	
HP:0010406	Bullet-shaped middle phalanx of the 2nd toe	An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010407	Curved middle phalanx of the 2nd toe	A deviation from the normal straight form of the middle phalanx of the 2nd toe.
HP:0010408	Osteolytic defects of the middle phalanx of the 2nd toe	
HP:0010409	Patchy sclerosis of the middle phalanx of the 2nd toe	
HP:0010410	Symphalangism affecting the middle phalanx of the 2nd toe	
HP:0010411	Triangular shaped middle phalanx of the 2nd toe	
HP:0010412	Duplication of the middle phalanx of the 2nd toe	Partial or complete duplication of middle phalanx of second toe.
HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	
HP:0010414	Broad distal phalanx of the 2nd toe	
HP:0010415	Bullet-shaped distal phalanx of the 2nd toe	An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0010416	Curved distal phalanx of the 2nd toe	A deviation from the normal straight form of the distal phalanx of the 2nd toe.
HP:0010417	Osteolytic defects of the distal phalanx of the 2nd toe	
HP:0010418	Patchy sclerosis of the distal phalanx of the 2nd toe	
HP:0010419	Symphalangism affecting the distal phalanx of the 2nd toe	
HP:0010420	Triangular shaped distal phalanx of the 2nd toe	
HP:0010421	Duplication of the distal phalanx of the 2nd toe	Partial or complete duplication of the distal phalanx of second toe.
HP:0010422	Complete duplication of the proximal phalanx of the 2nd toe	Complete duplication of proximal phalanx of second toe.
HP:0010423	Partial duplication of the proximal phalanx of the 2nd toe	Partial duplication of proximal phalanx of second toe.
HP:0010424	Complete duplication of the distal phalanx of the 2nd toe	Complete duplication of the distal phalanx of second toe.
HP:0010425	Partial duplication of the distal phalanx of the 2nd toe	Partial duplication of the distal phalanx of second toe.
HP:0010426	Complete duplication of the middle phalanx of the 2nd toe	Complete duplication of middle phalanx of second toe.
HP:0010427	Partial duplication of the middle phalanx of the 2nd toe	Partial duplication of middle phalanx of second toe.
HP:0010428	Partial duplication of phalanx of the 2nd toe	Partial duplication of a phalanx of second toe.
HP:0010429	Complete duplication of the phalanges of the 2nd toe	Complete duplication of a phalanx of second toe.
HP:0010430	Aplasia of the phalanges of the 2nd toe	
HP:0010431	Short phalanx of the 2nd toe	Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.
HP:0010432	Absent distal phalanx of the 2nd toe	Absence of distal phalanx of the second toe as a result of developmental aplasia.
HP:0010433	Short distal phalanx of the 2nd toe	Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.
HP:0010434	Aplasia of the middle phalanx of the 2nd toe	
HP:0010435	Short middle phalanx of the 2nd toe	Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.
HP:0010436	Aplasia of the proximal phalanx of the 2nd toe	
HP:0010437	Short proximal phalanx of the 2nd toe	Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.
HP:0010438	Abnormal ventricular septum morphology	A structural abnormality of the interventricular septum.
HP:0010440	Ectopic accesory toe-like appendage	In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).
HP:0010441	Ectopic accessory finger-like appendage	In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).
HP:0010442	Polydactyly	A congenital anomaly characterized by the presence of supernumerary fingers or toes.
HP:0010443	Bifid femur	A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.
HP:0010444	Pulmonary insufficiency	The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
HP:0010445	Primum atrial septal defect	An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.
HP:0010446	Tricuspid stenosis	A narrowing of the orifice of the tricuspid valve of the heart.
HP:0010447	Anal fistula	An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
HP:0010448	Colonic atresia	A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.
HP:0010450	Esophageal stenosis	An abnormal narrowing of the lumen of the esophagus.
HP:0010451	Aplasia/Hypoplasia of the spleen	Absence or underdevelopment of the spleen.
HP:0010452	Ectopia of the spleen	An abnormal (non-anatomic) location of the spleen.
HP:0010453	Pelvic bone asymmetry	Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.
HP:0010454	Acetabular spurs	The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.
HP:0010455	Steep acetabular roof	An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.
HP:0010456	Abnormal greater sciatic notch morphology	An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
HP:0010458	Female pseudohermaphroditism	Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.
HP:0010459	True hermaphroditism	The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
HP:0010460	Abnormality of the female genitalia	Abnormality of the female genital system.
HP:0010461	Abnormality of the male genitalia	Abnormality of the male genital system.
HP:0010462	Aplasia/Hypoplasia of the ovary	Aplasia or developmental hypoplasia of the ovary.
HP:0010463	Aplasia of the ovary	Aplasia, that is failure to develop, of the ovary.
HP:0010464	Streak ovary	A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
HP:0010465	Precocious puberty in females	The onset of puberty before the age of 8 years in girls.
HP:0010468	Aplasia/Hypoplasia of the testes	Absence or underdevelopment of the testes.
HP:0010469	Absent testis	Testis not palpable in the scrotum or inguinal canal.
HP:0010470	Supernumerary testes	The presence of more than two testes.
HP:0010471	Oligosacchariduria	Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.
HP:0010472	Abnormal circulating porphyrin concentration	An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.
HP:0010473	Porphyrinuria	Abnormally increased excretion of porphyrins in the urine.
HP:0010474	Bladder stones	Buildups of minerals that form in the urinary bladder.
HP:0010475	Cloacal exstrophy	Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.
HP:0010476	Aplasia/Hypoplasia of the bladder	Absence or underdevelopment of the urinary bladder.
HP:0010477	Aplasia of the bladder	Aplasia (absence) of the urinary bladder.
HP:0010478	Abnormality of the urachus	Abnormality of the urachus.
HP:0010479	Patent urachus	Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.
HP:0010480	Urethral fistula	The presence of an abnormal connection between the urethra and another organ or the skin.
HP:0010481	Urethral valve	The presence of an abnormal membrane obstructing the urethra.
HP:0010482	Acromelia of the upper limbs	Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.
HP:0010483	Amniotic constriction rings of arms	Amniotic constriction rings affecting the arms.
HP:0010484	Hypertrophy of the upper limb	Abnormal increase in size of the upper limbs (due to an increase of the size of cells).
HP:0010485	Hyperextensibility at elbow	The ability of the elbow joint to move beyond its normal range of motion.
HP:0010486	Abnormality of the hypothenar eminence	An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).
HP:0010487	Small hypothenar eminence	Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.
HP:0010488	Aplasia/Hypoplasia of the palmar creases	Absence or underdevelopment of the palmar creases.
HP:0010489	Absent palmar crease	The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).
HP:0010490	Abnormality of the palmar creases	An abnormality of the creases of the skin of palm of hand.
HP:0010491	Digital constriction ring	A narrow segment of significantly reduced circumference of a digit.
HP:0010492	Osseous finger syndactyly	Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
HP:0010493	Long metacarpals	An abnormally increased length of the metacarpal bones.
HP:0010494	Acromelia of the lower limbs	Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.
HP:0010495	Amniotic constriction rings of legs	Amniotic constriction rings affecting the legs.
HP:0010496	Hypertrophy of the lower limb	Abnormal increase in size of the lower limbs (due to an increase of the size of cells).
HP:0010497	Sirenomelia	A developmental defect in which the legs are fused together.
HP:0010498	Bipartite patella	A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.
HP:0010499	Patellar subluxation	The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.
HP:0010500	Hyperextensibility of the knee	The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).
HP:0010501	Limitation of knee mobility	An abnormal limitation of knee joint mobility.
HP:0010502	Fibular bowing	A bending or abnormal curvature of the fibula.
HP:0010503	Fibular duplication	Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.
HP:0010504	Increased length of the tibia	An abnormal increase in the length of the tibia.
HP:0010505	Limitation of movement at ankles	An abnormal limitation of the mobility of the ankle joint.
HP:0010506	Abnormal plantar dermatoglyphics	An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.
HP:0010507	Foot asymmetry	A difference in size or shape between the left and right foot.
HP:0010508	Metatarsus valgus	A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.
HP:0010509	Aplasia of the tarsal bones	Absence of the tarsal bones.
HP:0010510	Hypermobility of toe joints	An ability of the toe joints to move beyond their normal range of motion.
HP:0010511	Long toe	Toes that appear disproportionately long compared to the foot.
HP:0010512	Adrenal calcification	Calcification within the adrenal glands.
HP:0010513	Pituitary calcification	Deposition of calcium salts in the pituitary gland.
HP:0010514	Hyperpituitarism	Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.
HP:0010515	Aplasia/Hypoplasia of the thymus	Absence or underdevelopment of the thymus.
HP:0010516	Thymus hyperplasia	Enlargement of the thymus.
HP:0010517	Ectopic thymus tissue	The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.
HP:0010518	Thyroglossal cyst	An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.
HP:0010519	Increased fetal movement	An abnormal increase in quantity or strength of fetal movements.
HP:0010521	Gait apraxia	Gait apraxia affecting the ability to make walking movements with the legs.
HP:0010522	Dyslexia	A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).
HP:0010523	Alexia	An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
HP:0010524	Agnosia	Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.
HP:0010525	Finger agnosia	An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.
HP:0010526	Dysgraphia	A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.
HP:0010527	Astereognosia	Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.
HP:0010528	Prosopagnosia	Inability to recognize faces of familiar persons.
HP:0010529	Echolalia	The repetition of vocalizations.
HP:0010530	Palatal tremor	Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.
HP:0010531	Spinal myoclonus	Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.
HP:0010532	Paroxysmal vertigo	Paroxysmal episodes of vertigo.
HP:0010533	Spasmus nutans	The combination of pendular nystagmus, head nodding, and torticollis.
HP:0010534	Transient global amnesia	A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.
HP:0010535	Sleep apnea	An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
HP:0010536	Central sleep apnea	Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.
HP:0010537	Wide cranial sutures	An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
HP:0010538	Small sella turcica	An abnormally small sella turcica.
HP:0010539	Thin calvarium	The presence of an abnormally thin calvarium.
HP:0010540	Advanced pneumatization of cranial sinuses	A degree of pneumatization that is increased compared to age-related norms.
HP:0010541	Cutis gyrata of scalp	The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.
HP:0010542	Vestibular nystagmus	Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.
HP:0010543	Opsoclonus	Bursts of large-amplitude multidirectional saccades without intersaccadic interval
HP:0010544	Vertical nystagmus	Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
HP:0010545	Downbeat nystagmus	Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
HP:0010546	Muscle fibrillation	Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
HP:0010547	Muscle flaccidity	A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.
HP:0010548	Percussion myotonia	A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
HP:0010549	Weakness due to upper motor neuron dysfunction	Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.
HP:0010550	Paraplegia	Severe or complete weakness of both lower extremities with sparing of the upper extremities.
HP:0010551	Paraplegia/paraparesis	Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.
HP:0010553	Oculogyric crisis	An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.
HP:0010554	Cutaneous finger syndactyly	A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
HP:0010557	Overlapping fingers	A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
HP:0010558	Abnormality of the clivus	An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.
HP:0010559	Vertical clivus	An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).
HP:0010560	Undulate clavicles	An abnormally wavy surface or edge of the clavicles.
HP:0010561	Undulate ribs	An abnormally wavy surface or edge of the ribs.
HP:0010562	Keloids	
HP:0010564	Bifid epiglottis	A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.
HP:0010565	Aplasia/Hypoplasia of the Epiglottis	This term applies if the Epiglottis is absent or hypoplastic.
HP:0010566	Hamartoma	A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
HP:0010567	Y-shaped metatarsals	Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.
HP:0010568	Hamartoma of the eye	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.
HP:0010569	Elevated 7-dehydrocholesterol	Elevated 7-dehydrocholesterol levels.
HP:0010570	Low maternal circulating alpha-fetoprotein concentration	An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.
HP:0010571	Elevated circulating phytanic acid concentration	An abnormal elevation of phytanic acid.
HP:0010574	Abnormality of the epiphysis of the femoral head	Any abnormality of the proximal epiphysis of the femur.
HP:0010575	Dysplasia of the femoral head	The presence of developmental dysplasia of the femoral head.
HP:0010576	Intracranial cystic lesion	A cystic lesion originating within the brain.
HP:0010577	Absent epiphyses	
HP:0010578	Bracket epiphyses	
HP:0010579	Cone-shaped epiphysis	Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
HP:0010580	Enlarged epiphyses	Increased size of epiphyses.
HP:0010582	Irregular epiphyses	An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
HP:0010583	Ivory epiphyses	Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0010584	Pseudoepiphyses	
HP:0010585	Small epiphyses	Reduction in the size or volume of epiphyses.
HP:0010587	Triangular epiphyses	
HP:0010588	Premature epimetaphyseal fusion	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0010590	Abnormality of the distal femoral epiphysis	Any abnormality of the distal epiphysis of the femur.
HP:0010591	Abnormality of the proximal tibial epiphysis	Any abnormality of the proximal epiphysis of the tibia.
HP:0010592	Abnormality of the distal tibial epiphysis	
HP:0010593	Abnormal fibular epiphysis morphology	
HP:0010594	Abnormality of the proximal fibular epiphysis	Any abnormality of the proximal epiphysis of the fibula.
HP:0010595	Abnormality of the distal fibular epiphysis	Any abnormality of the distal epiphysis of the fibula.
HP:0010596	Abnormality of the proximal radial epiphysis	Any abnormality of the proximal epiphysis of the radius.
HP:0010597	Abnormality of the distal radial epiphysis	Any abnormality of the distal epiphysis of the radius.
HP:0010598	Abnormality of the proximal humeral epiphysis	Any abnormality of the proximal epiphysis of the humerus.
HP:0010599	Abnormality of the distal humeral epiphysis	Any abnormality of the distal epiphysis of the humerus.
HP:0010600	Abnormal distal ulnar epiphysis morphology	Any abnormality of the distal epiphysis of the ulna.
HP:0010601	Abnormal proximal ulnar epiphysis morphology	Any abnormality of the proximal epiphysis of the ulna.
HP:0010602	Type 2 muscle fiber predominance	An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).
HP:0010603	Odontogenic keratocysts of the jaw	A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
HP:0010604	Cyst of the eyelid	
HP:0010605	Chalazion	A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.
HP:0010606	Hordeolum	An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.
HP:0010607	Hordeolum externum	Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.
HP:0010608	Hordeolum internum	Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.
HP:0010609	Skin tags	Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
HP:0010610	Palmar pits	
HP:0010612	Plantar pits	The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.
HP:0010614	Fibroma	Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
HP:0010615	Angiofibromas	Angiofibroma consist of many often dilated vessels.
HP:0010616	Lung fibroma	The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.
HP:0010617	Cardiac fibroma	A fibroma of the heart.
HP:0010618	Ovarian fibroma	The presence of a fibroma of the ovary.
HP:0010619	Fibroadenoma of the breast	A benign biphasic tumor of the breast with epithelial and stromal components.
HP:0010620	Malar prominence	Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.
HP:0010621	Cutaneous syndactyly of toes	A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
HP:0010622	Neoplasm of the skeletal system	A tumor (abnormal growth of tissue) of the skeleton.
HP:0010624	Aplastic/hypoplastic toenail	Absence or underdevelopment of the toenail.
HP:0010625	Anterior pituitary dysgenesis	Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.
HP:0010626	Anterior pituitary agenesis	Absence of the anterior pituitary gland resulting from a developmental defect.
HP:0010627	Anterior pituitary hypoplasia	Underdevelopment of the anterior pituitary gland.
HP:0010628	Facial palsy	Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
HP:0010629	Abnormal morphology of the cortex of the humerus	Any abnormality affecting the cortex of the humerus.
HP:0010630	Abnormal metatarsal epiphysis morphology	Any abnormality of a metatarsal bone epiphysis.
HP:0010631	Abnormality of the epiphyses of the feet	Any abnormality of the epiphyses of the feet.
HP:0010632	Total anosmia	Inability to detect any qualitative olfactory sensation.
HP:0010633	Partial anosmia	Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).
HP:0010634	Total hyposmia	Reduced ability to detect any qualitative olfactory sensation.
HP:0010635	Partial hyposmia	Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).
HP:0010636	Schizencephaly	The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
HP:0010637	Conjunctival amyloidosis	A form of amyloidosis that affects the conjunctiva.
HP:0010638	Elevated alkaline phosphatase of hepatic origin	An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010639	Elevated alkaline phosphatase of bone origin	An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010640	Abnormality of the nasal cavity	Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).
HP:0010641	Abnormality of the midnasal cavity	Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.
HP:0010643	Midnasal atresia	Absence or abnormal closure of the midnasal cavity.
HP:0010644	Midnasal stenosis	Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.
HP:0010645	Aplasia of the distal phalanges of the toes	Absence of the distal phalanges of the toes.
HP:0010646	Cervical spine instability	An abnormal lack of stability of the cervical spine.
HP:0010647	Abnormal elasticity of skin	Any abnormal increase or reduction in skin elasticity.
HP:0010648	Dermal translucency	An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
HP:0010649	Flat nasal alae	An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).
HP:0010650	Hypoplasia of the premaxilla	An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.
HP:0010651	Abnormal meningeal morphology	An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.
HP:0010652	Abnormal dura mater morphology	An abnormality of the Dura mater.
HP:0010653	Abnormality of the falx cerebri	An abnormality of the Falx cerebri.
HP:0010654	Aplasia of the falx cerebri	A developmental defect characterized by aplasia of the Falx cerebri.
HP:0010655	Epiphyseal stippling	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
HP:0010656	Abnormal epiphyseal ossification	An abnormality of the formation and mineralization of an epiphysis.
HP:0010657	Patchy reduction of bone mineral density	Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0010658	Patchy changes of bone mineral density	Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).
HP:0010659	Patchy variation in bone mineral density	Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.
HP:0010660	Abnormal hand bone ossification	An abnormality of the formation and mineralization of any bone of the skeleton of hand.
HP:0010661	Absence of the third cerebral ventricle	A developmental defect characterized by the absence of the third ventricle.
HP:0010662	Abnormality of the diencephalon	An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.
HP:0010663	Abnormality of thalamus morphology	An abnormality of the thalamus.
HP:0010664	Fusion of the left and right thalami	A developmental defect characterized by fusion of the left and right halves of the thalamus.
HP:0010665	Bilateral coxa valga	The presence of bilateral coxa valga.
HP:0010666	Hypoplasia of the anterior nasal spine	Underdevelopment of the anterior nasal spine of maxilla.
HP:0010667	Aplasia of the maxilla	A congenital defect characterized by absence of the Maxilla.
HP:0010668	Abnormal zygomatic bone morphology	An abnormality of the zygomatic bone.
HP:0010669	Hypoplasia of the zygomatic bone	Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
HP:0010672	Abnormality of the third metatarsal bone	An abnormality of the third metatarsal bone.
HP:0010674	Abnormality of the curvature of the vertebral column	The presence of an abnormal curvature of the vertebral column.
HP:0010675	Abnormal foot bone ossification	An abnormality of the formation and mineralization of any bone of the skeleton of foot.
HP:0010676	Mechanical ileus	
HP:0010677	Enuresis nocturna	Enuresis occurring during sleeping hours.
HP:0010678	Enuresis diurna	Enuresis occurring during waking hours of the day.
HP:0010679	Elevated tissue non-specific alkaline phosphatase	An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010680	Elevated alkaline phosphatase of renal origin	An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010681	Elevated intestinal alkaline phosphatase	An abnormally increased level of alkaline phosphatase, intestinal type in the blood.
HP:0010682	Elevated placental alkaline phosphatase	An abnormally increased level of alkaline phosphatase, placental type in the blood.
HP:0010683	Low tissue non-specific alkaline phosphatase	An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010684	Low alkaline phosphatase of bone origin	An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.
HP:0010685	Low alkaline phosphatase of renal origin	An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.
HP:0010686	Low alkaline phosphatase of hepatic origin	An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.
HP:0010687	Low intestinal alkaline phosphatase	An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.
HP:0010688	Low placental alkaline phosphatase	An abnormally reduced level of alkaline phosphatase, placental type in the blood.
HP:0010689	Mirror image polydactyly	A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes.
HP:0010690	Mirror image hand polydactyly	Mirror image duplication of digits affecting the hands only.
HP:0010691	Mirror image foot polydactyly	Mirror image duplication of digits affecting the feet.
HP:0010692	2-5 finger syndactyly	Syndactyly with fusion of fingers two to five.
HP:0010693	Pulverulent cataract	A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.
HP:0010694	Lamellar pulverulent cataract	A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.
HP:0010695	Sutural cataract	A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.
HP:0010696	Polar cataract	A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.
HP:0010697	Anterior pyramidal cataract	A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.
HP:0010698	Nuclear pulverulent cataract	A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.
HP:0010699	Triangular nuclear cataract	A nuclear cataract with a triangular form.
HP:0010701	Abnormal immunoglobulin level	An abnormal deviation from normal levels of immunoglobulins in blood.
HP:0010702	Increased circulating antibody level	An increased level of gamma globulin (immunoglobulin) in the blood.
HP:0010704	1-2 finger syndactyly	Syndactyly with fusion of fingers one and two.
HP:0010705	4-5 finger syndactyly	Syndactyly with fusion of fingers four and five.
HP:0010706	1-3 finger syndactyly	Syndactyly with fusion of fingers one to three.
HP:0010707	1-4 finger syndactyly	Syndactyly with fusion of fingers one to four.
HP:0010708	1-5 finger syndactyly	Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).
HP:0010709	2-4 finger syndactyly	Syndactyly with fusion of the fingers two to four.
HP:0010710	3-5 finger syndactyly	Syndactyly with fusion of fingers three to five.
HP:0010711	1-2 toe syndactyly	Syndactyly with fusion of toes one and two.
HP:0010712	1-4 toe syndactyly	Syndactyly with fusion of toes one to four.
HP:0010713	1-5 toe syndactyly	Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).
HP:0010714	2-4 toe syndactyly	Syndactyly with fusion of toes two to four.
HP:0010715	2-5 toe syndactyly	Syndactyly with fusion of toes two to five.
HP:0010716	3-5 toe syndactyly	Syndactyly with fusion of toes three to five.
HP:0010717	Osseous syndactyly of toes	Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
HP:0010719	Abnormality of hair texture	An abnormality of the texture of the hair.
HP:0010720	Abnormal hair pattern	An abnormality of the distribution of hair growth.
HP:0010721	Abnormal hair whorl	An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).
HP:0010722	Asymmetry of the ears	An asymmetriy, i.e., difference in size, shape or position between the left and right ear.
HP:0010723	Cystic lesions of the pinnae	
HP:0010724	Advanced pneumatization of the mastoid process	An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.
HP:0010726	Prominent corneal nerve fibers	Abnormal prominence of the corneal nerve fibers.
HP:0010727	Spontaneous rupture of the globe	Rupture of the eyeball not due to trauma.
HP:0010728	Aplasia of the retina	A developmental defect characterized by absence of the retina.
HP:0010729	Cherry red spot of the macula	Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.
HP:0010730	Double eyebrow	This may present as a partial or complete duplication of the eyebrows.
HP:0010731	Extension of eyebrows towards upper eyelid	The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.
HP:0010732	Nodular changes affecting the eyelids	Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.
HP:0010733	Naevus flammeus of the eyelid	Naevus flammeus localised in the skin of the eyelid.
HP:0010734	Fibrous dysplasia of the bones	Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).
HP:0010735	Polyostotic fibrous dysplasia	Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.
HP:0010736	Monostotic fibrous dysplasia	Fibrous dysplasia of the bones were lesions are localized in only one bone.
HP:0010739	Osteopoikilosis	Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.
HP:0010740	Osteopathia striata	A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
HP:0010741	Pedal edema	An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
HP:0010742	Edema of the upper limbs	An abnormal accumulation of fluid beneath the skin of the arms.
HP:0010743	Short metatarsal	Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
HP:0010744	Absent metatarsal bone	A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.
HP:0010745	Aplasia of the phalanges of the toes	Absence of a digit or of one or more phalanges of a toe.
HP:0010746	Hypoplasia of the phalanges of the toes	
HP:0010747	Medial flaring of the eyebrow	An abnormal distribution of eyebrow hair growth in the medial direction.
HP:0010748	Ectopic lacrimal punctum	Positioning of a lacrimal punctum other than at the medial margins of the eyelid.
HP:0010749	Blepharochalasis	Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.
HP:0010750	Dermatochalasis	Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.
HP:0010751	Dimple chin	A persistent midline depression of the skin over the fat pad of the chin.
HP:0010752	Cleft mandible	Midline deficiency of the mandible and some or all overlying tissues.
HP:0010753	Midline defect of mandible	
HP:0010754	Abnormality of the temporomandibular joint	An anomaly of the temporomandibular joint.
HP:0010755	Asymmetry of the maxilla	Asymmetry between the left and right sides of the maxilla.
HP:0010756	Aplasia/Hypoplasia of the premaxilla	Absence or underdevelopment of the premaxilla.
HP:0010757	Aplasia of the premaxilla	Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.
HP:0010758	Abnormality of the premaxilla	An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.
HP:0010759	Prominence of the premaxilla	Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.
HP:0010760	Absent toe	Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
HP:0010761	Broad columella	Increased width of the columella.
HP:0010762	Chordoma	A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.
HP:0010763	Low insertion of columella	Insertion of the posterior columella below the nasal base.
HP:0010764	Short eyelashes	Decreased length of the eyelashes (subjective).
HP:0010765	Palmar hyperkeratosis	Abnormal thickening of the skin localized to the palm of the hand.
HP:0010766	Ectopic calcification	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
HP:0010767	Sacrococcygeal pilonidal abnormality	The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.
HP:0010769	Pilonidal sinus	A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.
HP:0010770	Pilonidal fistula	
HP:0010771	Pilonidal abscess	A hair-containing cyst or sinus usually in the coccygeal region.
HP:0010772	Anomalous pulmonary venous return	A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.
HP:0010773	Partial anomalous pulmonary venous return	A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.
HP:0010774	Cor triatriatum	The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).
HP:0010775	Vascular ring	A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
HP:0010776	Tracheobronchmegaly	Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.
HP:0010777	Bronchomegaly	Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.
HP:0010778	Tracheomegaly	Marked widening of the trachea.
HP:0010779	Large pelvis bone	The presence of an abnormally large pelvis.
HP:0010780	Hyperacusis	Over-sensitivity to certain frequency ranges of sound.
HP:0010781	Skin dimple	Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.
HP:0010782	Shoulder dimple	A subtype of skin dimples occurring in the shoulder region.
HP:0010783	Erythema	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0010784	Uterine neoplasm	A tumor (abnormal growth of tissue) of the uterus.
HP:0010785	Gonadal neoplasm	A tumor (abnormal growth of tissue) of a gonad.
HP:0010786	Urinary tract neoplasm	The presence of a neoplasm of the urinary system.
HP:0010787	Genital neoplasm	A tumor (abnormal growth of tissue) of the genital system.
HP:0010788	Testicular neoplasm	The presence of a neoplasm of the testis.
HP:0010789	Abnormality of the Leydig cells	
HP:0010790	Hyoplasia of the Leydig cells	Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.
HP:0010791	Hyperplasia of the Leydig cells	Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.
HP:0010793	Bifid nail	A digit with two nails, with at least some soft tissue between them.
HP:0010794	Impaired visuospatial constructive cognition	Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).
HP:0010795	Cerebellar glioma	A glioma affecting the cerebellum.
HP:0010796	Brainstem glioma	A glioma affecting the brainstem.
HP:0010797	Hemangioblastoma	A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.
HP:0010798	Lip freckle	Increased focal pigmentation of the vermilion of the lips.
HP:0010799	Pinealoma	A neoplasm of the pineal gland.
HP:0010800	Absent cupid's bow	Lack of paramedian peaks and median notch of the upper lip vermilion.
HP:0010801	Underdeveloped nasolabial fold	Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).
HP:0010802	Perioral hyperpigmentation	Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.
HP:0010803	Everted upper lip vermilion	Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
HP:0010804	Tented upper lip vermilion	Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
HP:0010805	Upturned corners of mouth	Oral commissures positioned superior to the midline labial fissure.
HP:0010806	U-Shaped upper lip vermilion	Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
HP:0010807	Open bite	Visible space between the dental arches in occlusion.
HP:0010808	Protruding tongue	Tongue extending beyond the alveolar ridges or teeth at rest.
HP:0010809	Broad uvula	Increased width of the uvula (subjective finding).
HP:0010810	Long uvula	Increased length of the uvula.
HP:0010811	Narrow uvula	Decreased width of the uvula.
HP:0010812	Short uvula	Decreased length of the uvula.
HP:0010813	Abnormal number of hair whorls	More than two clockwise hair whorls.
HP:0010814	Abnormal position of hair whorl	Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.
HP:0010815	Nevus sebaceous	A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.
HP:0010816	Epidermal nevus	Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.
HP:0010817	Linear nevus sebaceous	A type of nevus sebaceous with a linear form, raised borders and yellowish color.
HP:0010818	Generalized tonic seizure	A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.
HP:0010819	Atonic seizure	Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
HP:0010820	Focal emotional seizure with crying	Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.
HP:0010821	Focal emotional seizure with laughing	Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.
HP:0010822	Scintillating scotoma	A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.
HP:0010823	Ridged cranial sutures	An overlap of the bony plates of the skull in an infant, with or without early closure.
HP:0010824	Abnormal fifth cranial nerve morphology	Any structural abnormality of the fifth cranial nerve.
HP:0010825	Abnormality of the eleventh cranial nerve	Abnormality of the eleventh cranial nerve.
HP:0010826	Abnormality of the twelfth cranial nerve	Abnormality of the twelfth cranial nerve.
HP:0010827	Abnormality of the seventh cranial nerve	Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.
HP:0010828	Hemifacial spasm	Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.
HP:0010829	Impaired temperature sensation	A reduced ability to discriminate between different temperatures.
HP:0010830	Impaired tactile sensation	A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
HP:0010831	Impaired proprioception	A loss or impairment of the sensation of the relative position of parts of the body and joint position.
HP:0010832	Abnormality of pain sensation	Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.
HP:0010833	Spontaneous pain sensation	Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.
HP:0010834	Trophic changes related to pain	Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.
HP:0010835	Dissociated sensory loss	A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.
HP:0010836	Abnormal circulating copper concentration	An abnormal concentration of copper.
HP:0010837	Decreased circulating ceruloplasmin concentration	Decreased concentration of ceruloplasmin in the blood.
HP:0010838	High nonceruloplasmin-bound serum copper	An increased concentration of non ceruloplasmin bound copper in the blood.
HP:0010839	Increased urinary copper concentration	An increased concentration of copper in the urine.
HP:0010841	Multifocal epileptiform discharges	An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).
HP:0010843	EEG with focal slow activity	Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).
HP:0010844	EEG with multifocal slow activity	Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010845	EEG with generalized slow activity	Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010846	EEG with persistent abnormal rhythmic activity	
HP:0010847	EEG with spike-wave complexes (<2.5 Hz)	The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).
HP:0010848	EEG with spike-wave complexes (2.5-3.5 Hz)	The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).
HP:0010849	EEG with spike-wave complexes (>3.5 Hz)	The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
HP:0010850	EEG with spike-wave complexes	Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010851	EEG with burst suppression	The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.
HP:0010852	EEG with photoparoxysmal response	EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
HP:0010853	EEG with periodic lateralized epileptiform discharges	Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).
HP:0010854	EEG with generalized low amplitude activity	An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010855	EEG with localized low amplitude activity	An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010856	EEG with periodic complexes	Periodically occurring generalized periodic complexes.
HP:0010857	EEG with periodic abnormalities	Periodically recurring abnormalities in the EEG.
HP:0010858	EEG with hyperventilation-induced epileptiform discharges	Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010859	Frank breech presentation	A kind of breech presentation in which the hips are flexed and the knees are extended.
HP:0010860	Complete breech presentation	A kind of breech presentation in which the hips are flexed and the knees are flexed.
HP:0010861	Incomplete breech presentation	A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.
HP:0010862	Delayed fine motor development	A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
HP:0010863	Receptive language delay	A delay in the acquisition of the ability to understand the speech of others.
HP:0010864	Intellectual disability, severe	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
HP:0010865	Oppositional defiant disorder	An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.
HP:0010866	Abdominal wall defect	An incomplete closure of the abdominal wall.
HP:0010867	Dyssynergia	A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.
HP:0010868	Ocular dyssynergia	A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.
HP:0010869	Asynergia	A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.
HP:0010871	Sensory ataxia	Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.
HP:0010872	T-wave inversion	An inversion of the T-wave (which is normally positive).
HP:0010873	Cervical spinal cord atrophy	Atrophy of the cervical segment of the spinal cord.
HP:0010874	Tendon xanthomatosis	The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
HP:0010875	Chaddock reflex	A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.
HP:0010876	Abnormal circulating protein concentration	An abnormal level of a circulating protein in the blood.
HP:0010877	Monocular strabismus	A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.
HP:0010878	Fetal cystic hygroma	The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.
HP:0010879	Postnatal cystic hygroma	
HP:0010880	Increased nuchal translucency	Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).
HP:0010881	Abnormality of the umbilical cord	An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.
HP:0010882	Pulmonary valve atresia	A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.
HP:0010883	Aortic valve atresia	A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
HP:0010884	Acromelia	Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.
HP:0010885	Avascular necrosis	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
HP:0010886	Osteochondritis dissecans	A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
HP:0010888	Morbus Koehler	Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.
HP:0010889	Morbus Kienboeck	Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.
HP:0010890	Morbus Osgood-Schlatter	Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.
HP:0010891	Morbus Scheuermann	A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).
HP:0010892	Abnormal circulating branched chain amino acid concentration	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.
HP:0010893	Abnormal circulating phenylalanine concentration	Any deviation from the normal concentration of phenylalanine in the blood circulation.
HP:0010894	Abnormal circulating serine family amino acid concentration	Any deviation from the normal concentration of a serine family amino acid in the blood circulation.
HP:0010895	Abnormal circulating glycine concentration	Any deviation from the normal concentration of glycine in the blood circulation.
HP:0010896	Hypersarcosinemia	An elevated plasma concentration of sarcosine.
HP:0010897	Hypersarcosinuria	An elevated urinary concentration of sarcosine.
HP:0010898	Abnormal circulating sarcosine concentration	An deviation from the normal concentration of sarcosine in the blood circulation.
HP:0010899	Abnormal circulating aspartate family amino acid concentration	Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.
HP:0010900	Abnormal circulating threonine concentration	Any deviation from the normal concentration of threonine in the blood circulation.
HP:0010901	Abnormal circulating methionine concentration	Any deviation from the normal concentration of methionine in the blood circulation.
HP:0010902	Abnormal circulating glutamine family amino acid concentration	Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.
HP:0010903	Abnormal circulating glutamine concentration	Any deviation from the normal concentration of glutamine in the blood circulation.
HP:0010904	Abnormal circulating histidine concentration	An abnormality of a histidine metabolic process.
HP:0010906	Hyperhistidinemia	An increased concentration of histidine in the blood.
HP:0010907	Abnormal circulating proline concentration	Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.
HP:0010908	Abnormal circulating lysine concentration	Any deviation from the normal concentration of lysine in the blood circulation.
HP:0010909	Abnormal circulating arginine concentration	Any deviation from the normal concentration of arginine in the blood circulation.
HP:0010910	Hypervalinemia	An increased concentration of valine in the blood.
HP:0010911	Hyperleucinemia	An increased concentration of leucine in the blood.
HP:0010912	Abnormal circulating isoleucine concentration	Any deviation from the normal concentration of isoleucine in the blood circulation.
HP:0010913	Hyperisoleucinemia	An increased concentration of isoleucine in the blood.
HP:0010914	Abnormal circulating valine concentration	Any deviation from the normal circulation of valine in the blood circulation.
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	An abnormality of a pyruvate family amino acid metabolic process.
HP:0010916	Abnormal circulating alanine concentration	An abnormality of an alanine metabolic process.
HP:0010917	Abnormal circulating tyrosine concentration	Any deviation from the normal concentration of tyrosine in the blood circulation.
HP:0010918	Abnormal circulating cysteine concentration	An abnormality of a cysteine metabolic process.
HP:0010919	Abnormal circulating homocysteine concentration	An abnormality of a homocysteine metabolic process.
HP:0010920	Zonular cataract	Zonular cataracts are defined to be cataracts that affect specific regions of the lens.
HP:0010921	Coralliform cataract	A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.
HP:0010922	Membranous cataract	A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.
HP:0010923	Anterior subcapsular cataract	A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.
HP:0010924	Posterior cortical cataract	A cataract that affects the posterior part of the cortex of the lens.
HP:0010925	Nuclear punctate cataract	
HP:0010926	Aculeiform cataract	A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.
HP:0010927	Abnormal blood inorganic cation concentration	An abnormality of divalent inorganic cation homeostasis.
HP:0010929	Abnormal blood cation concentration	An abnormality of cation homeostasis.
HP:0010930	Abnormal blood monovalent inorganic cation concentration	An abnormality of monovalent inorganic cation homeostasis.
HP:0010931	Abnormal blood sodium concentration	An abnormal concentration of sodium.
HP:0010932	Abnormal circulating nucleobase concentration	An abnormality of a nucleobase metabolic process.
HP:0010933	Hyperxanthinemia	An increased level of xanthine in the blood circulation.
HP:0010934	Xanthinuria	An increased concentration of xanthine in the urine.
HP:0010935	Abnormality of the upper urinary tract	An abnormality of the upper urinary tract.
HP:0010936	Abnormality of the lower urinary tract	An abnormality of the lower urinary tract.
HP:0010937	Abnormal nasal skeleton morphology	An abnormality of the nasal skeleton.
HP:0010938	Abnormal external nose morphology	An abnormality of the external nose.
HP:0010939	Abnormal nasal bone morphology	An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.
HP:0010940	Aplasia/Hypoplasia of the nasal bone	Absence or underdevelopment of the nasal bone.
HP:0010941	Aplasia of the nasal bone	Absence of the nasal bone.
HP:0010942	Echogenic intracardiac focus	A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.
HP:0010943	Echogenic fetal bowel	Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.
HP:0010944	Abnormal renal pelvis morphology	An abnormality of the renal pelvis.
HP:0010945	Fetal pyelectasis	Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.
HP:0010946	Dilatation of the renal pelvis	The presence of dilatation of the renal pelvis.
HP:0010947	Abnormality of ductus venosus blood flow	A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.
HP:0010948	Abnormal fetal cardiovascular morphology	A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0010949	Abnormality of umbilical vein blood flow	A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.
HP:0010950	Abnormal fourth ventricle morphology	An abnormality of the fourth ventricle.
HP:0010951	Abnormal third ventricle morphology	An abnormality of the third ventricle.
HP:0010952	Mild fetal ventriculomegaly	A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).
HP:0010953	Noncommunicating hydrocephalus	A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.
HP:0010954	Hypoplastic right heart	Underdevelopment of the right-sided structures of the heart.
HP:0010955	Dilatation of the bladder	The presence of a dilated urinary bladder.
HP:0010956	Fetal megacystis	Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.
HP:0010957	Congenital posterior urethral valve	A developmental defect resulting in an obstructing membrane in the posterior male urethra.
HP:0010958	Bilateral renal agenesis	A bilateral form of agenesis of the kidney.
HP:0010959	Congenital pulmonary airway malformation	Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.
HP:0010960	Bronchopulmonary sequestration	The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.
HP:0010961	Intralobar sequestration	A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.
HP:0010962	Extralobar sequestration	A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.
HP:0010963	Absence of stomach bubble on fetal sonography	By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.
HP:0010964	Abnormal circulating long-chain fatty-acid concentration	Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.
HP:0010965	Abnormal circulating phytanic acid concentration	Any deviation from the normal concentration of phytanic acid in the blood circulation.
HP:0010966	Abnormal circulating fatty-acid anion concentration	Any deviation from the normal concentration of a fatty acid anion in the blood circulation.
HP:0010967	Abnormal circulating carnitine concentration	Any deviation from the normal concentration of carnitine in the blood circulation.
HP:0010968	Abnormality of liposaccharide metabolism	An abnormality of liposaccharide metabolism.
HP:0010969	Abnormality of glycolipid metabolism	An abnormality of glycolipid metabolism.
HP:0010970	Blood group antigen abnormality	An abnormality of an erythrocyte cell surface molecule.
HP:0010971	Absence of Lutheran antigen on erythrocytes	Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.
HP:0010972	Anemia of inadequate production	A kind of anemia characterized by inadequate production of erythrocytes.
HP:0010974	Abnormal myeloid leukocyte morphology	An abnormality of myeloid leukocytes.
HP:0010975	Abnormal B cell count	A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
HP:0010976	B lymphocytopenia	An abnormal decrease from the normal count of B cells.
HP:0010977	Abnormal phagocytosis	An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.
HP:0010978	Abnormality of immune system physiology	A functional abnormality of the immune system.
HP:0010979	Abnormality of lipoprotein cholesterol concentration	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.
HP:0010980	Hyperlipoproteinemia	An abnormal increase in the level of lipoprotein cholesterol in the blood.
HP:0010981	Hypolipoproteinemia	An abnormal decrease in the level of lipoprotein cholesterol in the blood.
HP:0010982	Polygenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.
HP:0010983	Oligogenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.
HP:0010984	Digenic inheritance	A type of multifactorial inheritance governed by the simultaneous action of two gene loci.
HP:0010987	Abnormal cellular immune system morphology	An abnormality of the morphology or counts of the cells that make up the immune system.
HP:0010988	Abnormality of the extrinsic pathway	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.
HP:0010989	Abnormality of the intrinsic pathway	An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.
HP:0010990	Abnormality of the common coagulation pathway	An abnormality of blood coagulation, common pathway.
HP:0010991	Abnormal morphology of the abdominal musculature	An abnormality of the abdominal musculature.
HP:0010992	Stress urinary incontinence	Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.
HP:0010993	Abnormal cerebral subcortex morphology	An abnormality of the cerebral subcortex.
HP:0010994	Abnormal corpus striatum morphology	Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.
HP:0010995	Abnormal circulating dicarboxylic acid concentration	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.
HP:0010996	Abnormal circulating monocarboxylic acid concentration	Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.
HP:0010997	Chromosomal breakage induced by ionizing radiation	Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.
HP:0010998	Increased susceptibility to spontaneous sister chromatid exchange	An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.
HP:0010999	Aplasia of the optic tract	
HP:0011000	Aplasia/Hypoplasia of the optic tract	
HP:0011001	Increased bone mineral density	An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
HP:0011002	Osteopetrosis	Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.
HP:0011003	High myopia	A severe form of myopia with greater than -6.00 diopters.
HP:0011004	Abnormal systemic arterial morphology	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.
HP:0011005	Mixed cirrhosis	A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.
HP:0011006	Abnormal morphology of the musculature of the neck	An abnormality of the neck musculature.
HP:0011008	Temporal pattern	The speed at which disease manifestations appear and develop.
HP:0011009	Acute	Sudden appearance of disease manifestations over a short period of time.
HP:0011010	Chronic	Slow, creeping onset, slow progress and long continuance of disease manifestations.
HP:0011011	Subacute	Somewhat rapid onset and change of disease manifestations.
HP:0011012	Abnormal circulating polysaccharide concentration	A deviation from the normal concentration of a polysaccharide in the blood circulation.
HP:0011013	Abnormal circulating carbohydrate concentration	A deviation from the normal concentration of a carbohydrate in the blood circulation.
HP:0011014	Abnormal glucose homeostasis	Abnormality of glucose homeostasis.
HP:0011015	Abnormal blood glucose concentration	An abnormality of the concentration of glucose in the blood.
HP:0011017	Abnormal cellular physiology	An abnormality in a cellular process.
HP:0011018	Abnormality of the cell cycle	An abnormality of the cell cycle.
HP:0011019	Abnormality of chromosome condensation	An abnormality of chromosome condensation.
HP:0011020	Abnormality of mucopolysaccharide metabolism	An abnormality of the metabolism of mucopolysaccharide.
HP:0011021	Abnormality of circulating enzyme level	
HP:0011022	Abnormal circulating unsaturated fatty acid concentration	A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.
HP:0011023	Abnormal circulating prostaglandin circulation	Any deviation from the normal concentration of a prostaglandin in the blood circulation.
HP:0011024	Abnormality of the gastrointestinal tract	An abnormality of the gastrointestinal tract.
HP:0011025	Abnormal cardiovascular system physiology	Abnormal functionality of the cardiovascular system.
HP:0011026	Aplasia/Hypoplasia of the vagina	Aplasia or developmental hypoplasia of the vagina.
HP:0011027	Abnormal fallopian tube morphology	An abnormality of the fallopian tube.
HP:0011028	Abnormality of blood circulation	An abnormality of blood circulation.
HP:0011029	Internal hemorrhage	The presence of hemorrhage within the body.
HP:0011030	Abnormal blood transition element cation concentration	An abnormality of the homeostasis (concentration) of transition element cation.
HP:0011031	Abnormality of iron homeostasis	An abnormality of the homeostasis (concentration) of iron cation.
HP:0011032	Abnormality of fluid regulation	An abnormality of the regulation of body fluids.
HP:0011033	Impairment of fructose metabolism	An impairment of a fructose metabolic process.
HP:0011034	Amyloidosis	The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.
HP:0011035	Abnormal renal cortex morphology	An abnormality of the cortex of the kidney.
HP:0011036	Abnormality of renal excretion	An altered ability of the kidneys to void urine and/or specific substances.
HP:0011037	Decreased urine output	A decreased rate of urine production.
HP:0011038	Abnormal renal tubular resorption	An abnormality of renal absorption.
HP:0011039	Abnormal helix morphology	An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
HP:0011040	Abnormal intrahepatic bile duct morphology	An abnormality of the intrahepatic bile duct.
HP:0011041	Aplasia/Hypoplasia of the cervical spine	Aplasia or developmental hypoplasia of the cervical vertebral column.
HP:0011042	Abnormal blood potassium concentration	An abnormal concentration of potassium.
HP:0011043	Abnormal circulating adrenocorticotropin concentration	An abnormal concentration of corticotropin in the blood.
HP:0011044	Abnormal number of permanent teeth	The presence of an altered number of of permanent teeth.
HP:0011045	Agenesis of permanent maxillary central incisor	Agenesis of upper secondary incisor.
HP:0011046	Agenesis of primary maxillary central incisor	Agenesis of upper central primary incisor.
HP:0011047	Agenesis of primary mandibular central incisor	Agenesis of lower primary incisor.
HP:0011048	Agenesis of permanent mandibular central incisor	Agenesis of lower secondary incisor.
HP:0011049	Agenesis of primary maxillary lateral incisor	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.
HP:0011050	Agenesis of permanent maxillary lateral incisor	Agenesis of one or more upper lateral secondary incisor.
HP:0011051	Agenesis of premolar	Agenesis of premolar tooth.
HP:0011052	Agenesis of maxillary premolar	Agenesis of maxillary premolar.
HP:0011053	Agenesis of mandibular premolar	Agenesis of mandibular premolar.
HP:0011054	Agenesis of molar	Agenesis of molar tooth.
HP:0011055	Agenesis of permanent molar	Agenesis of secondary molar tooth.
HP:0011056	Agenesis of first permanent molar tooth	Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.
HP:0011057	Agenesis of second permanent molar	Agenesis of either mandibular second permanent molar or maxillary second permanent molar.
HP:0011058	Generalized periodontitis	A generalized form of periodontitis.
HP:0011059	Localized periodontitis	A localized form of periodontitis.
HP:0011060	Dentinogenesis imperfecta limited to primary teeth	Developmental dysplasia of dentin affecting only the primary dentition.
HP:0011061	Abnormality of dental structure	An abnormality of the structure or composition of the teeth.
HP:0011062	Misalignment of incisors	Misaligned incisor.
HP:0011063	Abnormal incisor morphology	An abnormality of morphology of the incisor tooth.
HP:0011064	Abnormal number of incisors	The presence of an altered number of the incisor teeth.
HP:0011065	Conical incisor	An abnormal conical morphology of the incisor tooth.
HP:0011067	Mesiodens	A supernumerary tooth in the midline between the maxillary central incisors.
HP:0011068	Odontoma	The presence of an odontoma.
HP:0011069	Supernumerary tooth	The presence of one or more teeth additional to the normal number.
HP:0011070	Abnormal molar morphology	An abnormality of morphology of molar tooth.
HP:0011071	Abnormality of permanent molar morphology	An abnormality of morphology of permanent molar.
HP:0011072	Rootless teeth	
HP:0011073	Abnormality of dental color	A developmental defect of tooth color.
HP:0011074	Localized hypoplasia of dental enamel	A localized form of developmental hypoplasia of the dental enamel.
HP:0011075	Green teeth	A green staining of teeth.
HP:0011076	Abnormality of premolar	An abnormality of premolar tooth.
HP:0011077	Abnormality of molar	An abnormality of molar tooth.
HP:0011078	Abnormality of canine	An abnormality of canine tooth.
HP:0011079	Impacted tooth	A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).
HP:0011080	Abnormal premolar morphology	An abnormality of morphology of premolar tooth.
HP:0011081	Incisor macrodontia	Increased size of the incisor tooth.
HP:0011082	Conical primary incisor	An abnormal conical morphology of the primary incisor.
HP:0011083	Conical maxillary incisor	An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.
HP:0011084	Hypocalcification of dental enamel	A form of hypomineralization of enamel characterized by reduced calcification.
HP:0011085	Hypomature dental enamel	A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.
HP:0011086	Dentinogenesis imperfecta of primary and permanent teeth	Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.
HP:0011087	Talon cusp	Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).
HP:0011088	Dens in dente	An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.
HP:0011089	Double tooth	Fusion of two adjacent teeth.
HP:0011090	Fused teeth	The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.
HP:0011091	Gemination	The development of two teeth from a single tooth bud, leading to a larger fused tooth.
HP:0011092	Mulberry molar	Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.
HP:0011093	Molarization of premolar	Increased size and molar morphology of premolar tooth.
HP:0011094	Increased overbite	Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.
HP:0011095	Overjet	An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.
HP:0011096	Peripheral demyelination	A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0011097	Epileptic spasm	A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages
HP:0011098	Speech apraxia	A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
HP:0011099	Spastic hemiparesis	Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.
HP:0011100	Intestinal atresia	An abnormal closure, or atresia of the tubular structure of the intestine.
HP:0011102	Ileal atresia	An abnormal closure, or atresia of the tubular structure of the ileum.
HP:0011103	Abnormal left ventricular outflow tract morphology	An abnormality of the outflow tract of the left ventricle.
HP:0011104	Abnormality of blood volume homeostasis	An abnormality in the amount of volume occupied by intravascular blood.
HP:0011105	Hypervolemia	An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.
HP:0011106	Hypovolemia	An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.
HP:0011107	Recurrent aphthous stomatitis	Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
HP:0011108	Recurrent sinusitis	A recurrent form of sinusitis.
HP:0011109	Chronic sinusitis	A chronic form of sinusitis.
HP:0011110	Recurrent tonsillitis	Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.
HP:0011111	Abnormality of immune serum protein physiology	An abnormality of the concentration or function of circulating immune proteins.
HP:0011112	Abnormality of serum cytokine level	Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.
HP:0011113	Abnormality of cytokine secretion	An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).
HP:0011114	Defective production of NFKB1-dependent cytokines	An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.
HP:0011115	Abnormality of chemokine secretion	An abnormality in the production or cellular release of a chemokine (a class of cytokines).
HP:0011116	Abnormality of interferon secretion	An abnormality in the production or cellular release of interferons (a class of cytokines).
HP:0011117	Abnormality of interleukin secretion	An abnormality in the production or cellular release of interleukins (a class of cytokines).
HP:0011118	Abnormality of tumor necrosis factor secretion	An abnormality in the production or cellular release of tumor necrosis factor.
HP:0011119	Abnormal nasal dorsum morphology	An abnormality of the nasal dorsum, also known as the nasal ridge.
HP:0011120	Concave nasal ridge	Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
HP:0011121	Abnormality of skin morphology	Any morphological abnormality of the skin.
HP:0011122	Abnormality of skin physiology	Any abnormality of the physiological function of the skin.
HP:0011123	Inflammatory abnormality of the skin	The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
HP:0011124	Abnormal epidermal morphology	An abnormality of the morphology of the epidermis.
HP:0011125	Abnormality of dermal melanosomes	An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).
HP:0011126	Nephroptosis	A significant descent of the kidney as the patient moves from the supine to the erect position.
HP:0011127	Perioral eczema	A type of eczema that occurs in the lips and perioral area.
HP:0011128	Acute esophageal necrosis	A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.
HP:0011129	Bilateral fetal pyelectasis	A bilateral form of fetal pyelectasis.
HP:0011130	Abnormal renal calyx morphology	Any abnormality of the morphology of the major calices or minor calices of the kidney.
HP:0011131	Perianal dermatitis	The presence of a rash (change of color and texture) of the perianal skin.
HP:0011132	Chronic furunculosis	A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.
HP:0011133	Increased sensitivity to ionizing radiation	An abnormally increased sensitivity to the effects of ionizing radiation.
HP:0011134	Low-grade fever	Mild fever that does not exceed 38.5 degrees centigrade.
HP:0011135	Aplasia/Hypoplasia of the sweat glands	Absence or developmental hypoplasia of the sweat glands.
HP:0011136	Aplasia of the sweat glands	Absence of the sweat glands.
HP:0011137	Non-pruritic urticaria	Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.
HP:0011138	Abnormality of skin adnexa morphology	An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
HP:0011139	Gastric duplication	Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.
HP:0011140	Gastrointestinal duplication	A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.
HP:0011141	Age-related cataract	A type of cataract (opacification of the lens) that forms during the course of aging.
HP:0011142	Age-related nuclear cataract	A type of age-related cataract that primarily affects the nucleus of the lens.
HP:0011143	Age-related cortical cataract	A type of age-related cataract that primarily affects the cortex of the lens.
HP:0011144	Age-related posterior subcapsular cataract	A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.
HP:0011145	Symptomatic seizures	A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.
HP:0011146	Dialeptic seizure	A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.
HP:0011147	Typical absence seizure	A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.
HP:0011149	Absence seizure with eyelid myoclonia	An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure.
HP:0011150	Myoclonic absence seizure	Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.
HP:0011151	Atypical absence status epilepticus	Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.
HP:0011152	Early onset absence seizures	Typical absence seizures starting before the age of 4 years.
HP:0011153	Focal motor seizure	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.
HP:0011154	Focal autonomic seizure	An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.
HP:0011157	Focal sensory seizure	A focal sensory seizure is a type seizure beginning with a subjective sensation.
HP:0011158	Focal sensory seizure with auditory features	A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.
HP:0011159	Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.
HP:0011160	Focal sensory seizure with gustatory features	A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.
HP:0011161	Focal sensory seizure with olfactory features	Seizures characterized by olfactory phenomena as its first clinical manifestation.
HP:0011163	Focal sensory seizure with somatosensory features	A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.
HP:0011165	Focal sensory seizure with visual features	A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.
HP:0011166	Focal myoclonic seizure	A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0011167	Focal tonic seizure	A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.
HP:0011168	Focal seizure with eyelid myoclonia	Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.
HP:0011169	Generalized clonic seizure	Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.
HP:0011170	Generalized myoclonic-atonic seizure	A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.
HP:0011171	Simple febrile seizure	A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.
HP:0011172	Complex febrile seizure	A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.
HP:0011173	Focal behavior arrest seizure	A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.
HP:0011174	Focal hyperkinetic seizure	A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.
HP:0011175	Focal motor seizure with version	A type of focal motor seizure characterised by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.
HP:0011176	EEG with constitutional variants	An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.
HP:0011177	EEG with 4-5/second background activity	EEG background activity at 4-5/second.
HP:0011178	Alpha-EEG	EEG dominated by diffuse alpha-waves (8-13Hz).
HP:0011179	Beta-EEG	EEG dominated by diffuse beta-waves (>13 Hz).
HP:0011180	Partial beta-EEG	EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).
HP:0011181	Low voltage EEG	EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).
HP:0011182	Interictal epileptiform activity	Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
HP:0011183	EEG with hyperventilation-induced focal epileptiform discharges	Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0011184	EEG with hyperventilation-induced generalized epileptiform discharges	Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0011185	EEG with focal epileptiform discharges	EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0011186	Focal epileptiform discharges with limited propagation to contralateral hemisphere	Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.
HP:0011187	Focal EEG discharges with propagation to ipsilateral hemisphere	Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.
HP:0011188	Focal EEG discharges with secondary generalization	Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.
HP:0011189	Bilateral multifocal epileptiform discharges	Epileptiform discharges being identified at multiple locations in both hemispheres.
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.
HP:0011191	Unilateral multifocal epileptiform discharges	Epileptiform discharges being identified at multiple locations in one hemisphere.
HP:0011192	Polymorphic focal epileptiform discharges	Focal epileptiform discharges of different shapes and frequencies.
HP:0011193	EEG with focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec.
HP:0011194	EEG with series of focal spikes	Focal spikes occurring for several seconds.
HP:0011195	EEG with focal sharp slow waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011196	EEG with focal sharp waves	EEG with focal sharp transient waves of a duration between 80 and 200 msec.
HP:0011197	EEG with focal spike waves	EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.
HP:0011198	EEG with generalized epileptiform discharges	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
HP:0011199	EEG with generalized sharp slow waves	EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011200	EEG with generalized polymorphic epileptiform discharges	Generalized epileptiform discharges of different shapes and frequencies.
HP:0011201	EEG with changes in voltage	EEG with abnormal amplitude.
HP:0011202	EEG with diffuse acceleration	EEG frequency is abnormally increased.
HP:0011203	EEG with abnormally slow frequencies	EEG with abnormally slow frequencies.
HP:0011204	EEG with continuous slow activity	EEG showing diffuse slowing without interruption.
HP:0011205	EEG with intermittent slow activity	Non-continuous diffuse slowing of electroencephalographic patterns.
HP:0011206	EEG with generalized slow activity grade 1	Slowing at frequencies between 7.5 and 8.5 Hz.
HP:0011207	EEG with generalized slow activity grade 2	Generalized slowing of EEG activity at frequencies between 4-7 Hz.
HP:0011208	EEG with generalized slow activity grade 3	Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.
HP:0011209	EEG with generalized slow activity grade 4	EEG without electrical activity.
HP:0011210	EEG with occipital slowing	Slowing in occipital areas of the scalp EEG.
HP:0011211	EEG with photoparoxysmal response grade I	Occurrence of epileptiform discharges in occipital regions during photic stimulation.
HP:0011212	EEG with photoparoxysmal response grade II	Occurence of epileptiform discharges in occipital and central regions during photic stimulation.
HP:0011213	EEG with photoparoxysmal response grade III	Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.
HP:0011214	EEG with photoparoxysmal response grade IV	Occurrence of generalized epileptiform discharges during photic stimulation.
HP:0011215	Hemihypsarrhythmia	Hypsarrhythmia occurring in one hemisphere.
HP:0011217	Abnormal shape of the occiput	An abnormal shape of occiput.
HP:0011218	Abnormal shape of the frontal region	An abnormal shape of the frontal part of the head.
HP:0011219	Short face	Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).
HP:0011220	Prominent forehead	Forward prominence of the entire forehead, due to protrusion of the frontal bone.
HP:0011221	Vertical forehead creases	Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.
HP:0011222	Depressed glabella	Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.
HP:0011223	Metopic depression	Linear vertical groove in the midline of the forehead, extending from hairline to glabella.
HP:0011224	Ablepharon	Absent eyelids.
HP:0011225	Epiblepharon	Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.
HP:0011226	Aplasia/Hypoplasia of the eyelid	Absence or underdevelopment of the eyelid.
HP:0011227	Elevated circulating C-reactive protein concentration	An abnormal elevation of the C-reactive protein level in the blood circulation.
HP:0011228	Horizontal eyebrow	An eyebrow that extends straight across the brow, without curve.
HP:0011229	Broad eyebrow	Regional increase in the width (height) of the eyebrow.
HP:0011230	Laterally extended eyebrow	An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.
HP:0011231	Prominent eyelashes	Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.
HP:0011232	Infra-orbital fold	Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.
HP:0011233	Antihelical shelf	Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.
HP:0011234	Absent antihelix	No discernible ridge between concha and triangular fossa and helix.
HP:0011235	Additional crus of antihelix	Supernumerary ridge or crus of the ear arising from the antihelix.
HP:0011236	Angulated antihelix	Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.
HP:0011237	Broad inferior crus of antihelix	Increased width of the inferred cross-section of the inferior crus.
HP:0011238	Prominent inferior crus of antihelix	Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.
HP:0011239	Underdeveloped inferior crus of antihelix	Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.
HP:0011240	Prominent stem of antihelix	Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.
HP:0011241	Serpiginous stem of antihelix	Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.
HP:0011242	Underdeveloped stem of antihelix	Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.
HP:0011243	Abnormality of inferior crus of antihelix	An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.
HP:0011244	Abnormality of stem of antihelix	An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.
HP:0011245	Abnormality of superior crus of antihelix	An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.
HP:0011246	Underdeveloped superior crus of antihelix	Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
HP:0011247	Prominent superior crus of antihelix	Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
HP:0011248	Everted antitragus	Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).
HP:0011249	Absent antitragus	Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
HP:0011250	Bifid antitragus	Double rather than single peak of the antitragus.
HP:0011251	Underdeveloped antitragus	Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
HP:0011252	Cryptotia	Invagination of the superior part of the auricle under a fold of temporal skin.
HP:0011253	Type I cryptotia	A type of cryptotia associated with reduction in size of the antihelix and superior crus.
HP:0011254	Type II cryptotia	A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.
HP:0011255	Absent crus of helix	Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.
HP:0011256	Crus of helix connected to antihelix	Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.
HP:0011257	Serpiginous crus of helix	Curving course of the crus of the helix, approaching or joining the antitragus.
HP:0011258	Tragal bridge of crus of helix	The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.
HP:0011259	Expanded terminal portion of crus of helix	Widening, rather than tapering, of the crus at its posterior border near the antihelix.
HP:0011260	Darwin notch of helix	Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.
HP:0011261	Darwin tubercle of helix	Small expansion of the helical fold at the junction of the superior and descending portions of the helix.
HP:0011262	Crimped helix	Linear, circumferential indentation in the convexity of the outer surface of the helix.
HP:0011263	Forward facing earlobe	Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.
HP:0011264	Discontinuous ascending root of helix	Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.
HP:0011265	Cleft earlobe	Discontinuity in the convexity of the inferior margin of the lobe.
HP:0011266	Microtia, first degree	Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.
HP:0011267	Microtia, third degree	Presence of some auricular structures, but none of these structures conform to recognized ear components.
HP:0011268	Absent tragus	Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.
HP:0011269	Bifid tragus	Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.
HP:0011270	Duplicated tragus	A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.
HP:0011271	Prominent tragus	Increase posterolateral protrusion of the tragus.
HP:0011272	Underdeveloped tragus	Decreased posterolateral protrusion of the tragus.
HP:0011273	Anisocytosis	Abnormally increased variability in the size of erythrocytes.
HP:0011274	Recurrent mycobacterial infections	Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
HP:0011275	Recurrent mycobacterium avium complex infections	Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.
HP:0011276	Vascular skin abnormality	
HP:0011277	Abnormality of the urinary system physiology	
HP:0011278	Intrapulmonary sequestration	A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.
HP:0011279	Abnormality of urine bicarbonate level	An abnormal amount of hydrogencarbonate in the urine.
HP:0011280	Abnormality of urine calcium concentration	An abnormality of calcium concentration in the urine.
HP:0011281	Abnormality of urine catecholamine level	An abnormal amount of urinary catecholamine concentration.
HP:0011282	Abnormal hindbrain morphology	An abnormality of the hindbrain, also known as the rhombencephalon.
HP:0011283	Abnormal metencephalon morphology	An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.
HP:0011284	Short-segment aganglionic megacolon	A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.
HP:0011285	Long-segment aganglionic megacolon	A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.
HP:0011286	Total colonic aganglionosis	A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.
HP:0011287	EEG with occipital sharp slow waves	EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011288	EEG with parietal sharp slow waves	EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011289	EEG with temporal sharp slow waves	EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011290	EEG with frontal sharp slow waves	EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011291	EEG with central sharp slow waves	EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
HP:0011292	EEG with occipital sharp waves	EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.
HP:0011293	EEG with central sharp waves	EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.
HP:0011294	EEG with frontal sharp waves	EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.
HP:0011295	EEG with parietal sharp waves	EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.
HP:0011296	EEG with temporal sharp waves	EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.
HP:0011297	Abnormal digit morphology	A morphological abnormality of a digit, i.e., of a finger or toe.
HP:0011298	Prominent digit pad	A soft tissue prominence of the ventral aspects of the fingertips or toe tips.
HP:0011299	Partial absence of finger	The absence of a phalangeal segment of a finger.
HP:0011300	Broad fingertip	Increased width of the distal segment of a finger.
HP:0011301	Absent foot	The total absence of the foot, with no bony elements distal to the tibia or fibula.
HP:0011302	Long palm	For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.
HP:0011303	Convex contour of sole	The contour of the foot in lateral profile has a convex shape.
HP:0011304	Broad thumb	Increased thumb width without increased dorso-ventral dimension.
HP:0011305	Partial absence of toe	The absence of a phalangeal segment of a toe or hallux.
HP:0011307	Splayed toes	Divergence of digits along the anteroposterior axis (in the plane of the sole).
HP:0011308	Slender toe	Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
HP:0011309	Tapered toe	The gradual reduction in girth of the toe from proximal to distal.
HP:0011310	Bridged palmar crease	A crease that connects the proximal and distal transverse palmar creases.
HP:0011311	Sydney crease	Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.
HP:0011312	Fused nails	A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.
HP:0011313	Narrow nail	Decreased width of nail.
HP:0011314	Abnormal long bone morphology	An abnormality of size or shape of the long bones.
HP:0011315	Unicoronal synostosis	Synostosis affecting only one of the coronal sutures.
HP:0011316	Left unicoronal synostosis	Synostosis affecting only the left coronal suture.
HP:0011317	Right unicoronal synostosis	Unicoronal synostosis affecting only the right coronal suture.
HP:0011318	Bicoronal synostosis	Synostosis affecting the right and the left coronal suture.
HP:0011319	Bilambdoid synostosis	Premature synostosis of both lambdoid sutures.
HP:0011320	Unilambdoid synostosis	Premature synostosis of only one lambdoid suture.
HP:0011321	Left unilambdoid synostosis	Premature synostosis of only the left lambdoid suture.
HP:0011322	Right unilambdoid synostosis	Premature synostosis of only the right lambdoid suture.
HP:0011323	Cleft of chin	Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.
HP:0011324	Multiple suture craniosynostosis	Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0011325	Pansynostosis	Craniosynostosis of all calvarial sutures.
HP:0011326	Anterior plagiocephaly	Asymmetry of the anterior part of the skull.
HP:0011327	Posterior plagiocephaly	Asymmetry of the posterior part of the skull.
HP:0011328	Abnormality of fontanelles	An abnormality of the fontanelle.
HP:0011329	Abnormality of cranial sutures	Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.
HP:0011330	Metopic synostosis	Premature fusion of the metopic suture.
HP:0011331	Hemifacial atrophy	Unilateral atrophy of facial tissues, including muscles, bones and skin.
HP:0011332	Hemifacial hypoplasia	Unilateral underdevelopment of the facial tissues, including muscles and bones.
HP:0011333	Asymmetric crying face	Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.
HP:0011334	Facial shape deformation	
HP:0011335	Frontal hirsutism	Excessive amount of hair growth on forehead.
HP:0011336	Bitemporal forceps marks	Bilateral temporal scarlike defects, which are said to resemble forceps marks.
HP:0011337	Abnormality of mouth size	
HP:0011338	Abnormality of mouth shape	An abnormality of the outline, configuration, or contour of the mouth.
HP:0011339	Abnormality of upper lip vermillion	An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.
HP:0011340	Incomplete cleft of the upper lip	A subtle unilateral cleft of the upper lip, which may appear as a small indentation.
HP:0011341	Long upper lip	Increased width of the upper lip.
HP:0011342	Mild global developmental delay	A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0011343	Moderate global developmental delay	A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0011344	Severe global developmental delay	A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0011345	Moderate expressive language delay	A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0011346	Mild expressive language delay	A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0011347	Abnormality of ocular abduction	An abnormality involving the movement of the eye outwards.
HP:0011348	Abnormal sixth cranial nerve morphology	Any structural abnormality of the abducens nerve.
HP:0011350	Mild receptive language delay	A mild delay in the acquisition of the ability to understand the speech of others.
HP:0011351	Moderate receptive language delay	A moderate delay in the acquisition of the ability to understand the speech of others.
HP:0011352	Severe receptive language delay	A severe delay in the acquisition of the ability to understand the speech of others.
HP:0011353	Arterial intimal fibrosis	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.
HP:0011354	Generalized abnormality of skin	An abnormality of the skin that is not localized to any one particular region.
HP:0011355	Localized skin lesion	A lesion of the skin that is located in a specific region rather than being generalized.
HP:0011356	Regional abnormality of skin	An abnormality of the skin that is restricted to a particular body region.
HP:0011358	Generalized hypopigmentation of hair	Reduced pigmentation of hair diffusely.
HP:0011359	Dry hair	Hair that lacks the lustre (shine or gleam) of normal hair.
HP:0011360	Acquired abnormal hair pattern	An abnormality of the distribution of hair growth that is acquired during the course of life.
HP:0011361	Congenital abnormal hair pattern	A congenital abnormality of the distribution of hair growth.
HP:0011362	Abnormal hair quantity	An abnormal amount of hair.
HP:0011363	Abnormality of hair growth rate	Hair whose growth rate deviates from the norm.
HP:0011364	White hair	Hypopigmented hair that appears white.
HP:0011365	Patchy hypopigmentation of hair	Reduced pigmentation of hair in patches.
HP:0011367	Yellow nails	Yellowish discoloration of the nails.
HP:0011368	Epidermal thickening	Thickening of the epidermal layer of the skin.
HP:0011369	Mongolian blue spot	Congenital deep dermal melanosis in the sacral area.
HP:0011370	Recurrent cutaneous fungal infections	Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.
HP:0011371	Recurrent viral skin infections	Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.
HP:0011372	Aplasia of the inner ear	Absence of the inner ear due to a developmental defect.
HP:0011373	Incomplete partition of the cochlea	Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.
HP:0011374	Incomplete partition of the cochlea type I	Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.
HP:0011375	Cochlear aplasia	Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.
HP:0011376	Morphological abnormality of the vestibule of the inner ear	A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
HP:0011377	Aplasia of the vestibule	Complete absence of the vestibule of the inner ear.
HP:0011378	Hypoplasia of the vestibule of the inner ear	Underdevelopment of the vestibule of the inner ear.
HP:0011379	Dilated vestibule of the inner ear	Dilatation of the vestibule of the inner ear.
HP:0011380	Morphological abnormality of the semicircular canal	An abnormality of the morphology of the semicircular canal.
HP:0011381	Aplasia of the semicircular canal	Absence of the semicircular canal.
HP:0011382	Hypoplasia of the semicircular canal	Underdevelopment of the semicircular canal.
HP:0011383	Enlarged semicircular canal	Increased size of the semicircular canal.
HP:0011384	Abnormality of the internal auditory canal	An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.
HP:0011385	Absent internal auditory canal	Aplasia of the internal auditory canal.
HP:0011386	Narrow internal auditory canal	Reduction in diameter of the internal auditory canal.
HP:0011387	Enlarged vestibular aqueduct	Increased size of the vestibular aqueduct.
HP:0011388	Enlarged cochlear aqueduct	Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.
HP:0011389	Functional abnormality of the inner ear	An abnormality of the function of the inner ear.
HP:0011390	Morphological abnormality of the inner ear	A structural anomaly of the internal part of the ear.
HP:0011391	Morphological abnormality of the nerves of the inner ear	
HP:0011392	Abnormality of the vestibular nerve	
HP:0011393	Aplasia of the vestibular nerve.	Absence of the vestibular nerve
HP:0011394	Hypoplasia of the vestibular nerve	Underdevelopment of the vestibular nerve.
HP:0011395	Aplasia/Hypoplasia of the cochlea	Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.
HP:0011396	Abnormality of the cochlear nerve	Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.
HP:0011397	Abnormality of the dorsal column of the spinal cord	An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.
HP:0011399	Tibialis anterior muscle atrophy	Wasting of the tibialis anterior muscle.
HP:0011400	Abnormal CNS myelination	An abnormality of myelination of nerves in the central nervous system.
HP:0011401	Delayed peripheral myelination	Delayed myelination in the peripheral nervous system.
HP:0011402	Demyelinating sensory neuropathy	Demyelination of peripheral sensory nerves.
HP:0011403	Abnormal umbilical cord blood vessel morphology	
HP:0011404	Lethal short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.
HP:0011405	Childhood onset short-limb short stature	
HP:0011406	Infancy onset short-trunk short stature	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.
HP:0011407	Proportionate tall stature	
HP:0011408	Moderate intrauterine growth retardation	Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.
HP:0011409	Abnormal placental membrane morphology	Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.
HP:0011410	Caesarian section	Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).
HP:0011411	Forceps delivery	
HP:0011412	Ventouse delivery	Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.
HP:0011413	Shoulder dystocia	Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.
HP:0011414	Hydropic placenta	An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.
HP:0011415	Calcified placenta	
HP:0011416	Placental infarction	
HP:0011417	Long umbilical cord	Increased length of the umbilical cord.
HP:0011418	Abnormal insertion of umbilical cord	Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.
HP:0011419	Placental abruption	Separation of the placenta from the uterus wall before delivery.
HP:0011420	Age of death	The age group when the cessation of life happens.
HP:0011421	Death in adolescence	Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).
HP:0011422	Abnormal blood chloride concentration	An abnormality of chloride homeostasis or concentration in the body.
HP:0011423	Hyperchloremia	An abnormally increased chloride concentration in the blood.
HP:0011424	Increased serum zinc	An increased consentration of zinc in the blood.
HP:0011425	Fetal ultrasound soft marker	An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.
HP:0011426	Fetal choroid plexus cysts	Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).
HP:0011427	Enlarged fetal cisterna magna	The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).
HP:0011428	Short fetal femur length	A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).
HP:0011429	Short fetal humerus length	A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).
HP:0011430	Hypoplasia of fetal nasal bone	On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).
HP:0011431	Fetal fifth finger clinodactyly	Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).
HP:0011432	High maternal circulating alpha-fetoprotein concentration	Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.
HP:0011433	High maternal circulating chorionic gonadotropin concentration	An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.
HP:0011434	Low maternal circulating chorionic gonadotropin concentration	An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.
HP:0011435	Low maternal circulating PAPP-A concentration	An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.
HP:0011436	Abnormal maternal serum screening	An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.
HP:0011437	Maternal autoimmune disease	A medical history of a fetus or child born to a mother with an autoimmune disease.
HP:0011438	Maternal teratogenic exposure	A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.
HP:0011439	Anesthetic-induced rhabdomylosis	Rhabdomyolysis induced by anesthesia.
HP:0011440	Alcohol-induced rhabdomyolysis	Rhabdomyolysis induced by intake of alcohol.
HP:0011441	Abnormal medulla oblongata morphology	An abnormality of the medulla oblongata, the lower half of the brainstem.
HP:0011442	Abnormal central motor function	An anomaly of the control or production of movement in the central nervous system.
HP:0011443	Abnormality of coordination	
HP:0011444	Decorticate rigidity	A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.
HP:0011445	Athetoid cerebral palsy	A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.
HP:0011446	Abnormality of higher mental function	Cognitive, psychiatric or memory anomaly.
HP:0011447	Hyposegmentation of neutrophil nuclei	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
HP:0011448	Ankle clonus	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
HP:0011449	Knee clonus	Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.
HP:0011450	Unusual CNS infection	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
HP:0011451	Primary microcephaly	Head circumference below 2 standard deviations below the mean for age and gender at birth.
HP:0011452	Functional abnormality of the middle ear	An abnormality of the function of the middle ear.
HP:0011453	Abnormality of the incus	An abnormality of the incus, an ossicle in the middle ear.
HP:0011454	Abnormality of the malleus	An abnormality of the malleus, an ossicle in the middle ear.
HP:0011455	Absent malleus	Aplasia of the malleus.
HP:0011456	Absent stapes	Aplasia of the stapes.
HP:0011457	Loss of eyelashes	This term refers to the loss of eyelashes that were previously present.
HP:0011458	Abdominal symptom	A subjective manifestation of disease localized to the abdomen.
HP:0011459	Esophageal carcinoma	The presence of a carcinoma of the esophagus.
HP:0011460	Embryonal onset	Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).
HP:0011461	Fetal onset	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).
HP:0011462	Young adult onset	Onset of disease at the age of between 16 and 40 years.
HP:0011463	Childhood onset	Onset of disease at the age of between 1 and 5 years.
HP:0011464	Aganglionosis of the small intestine	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.
HP:0011465	Duodenal aganglionosis	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.
HP:0011466	Aplasia/Hypoplasia of the gallbladder	Absence or underdevelopment of the gallbladder.
HP:0011467	Absent gallbladder	A developmental defect in which the gallbladder fails to form.
HP:0011468	Facial tics	Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.
HP:0011469	Nasal regurgitation	Regurgitation of milk through the nose.
HP:0011470	Nasogastric tube feeding in infancy	Feeding problem necessitating nasogastric tube feeding.
HP:0011471	Gastrostomy tube feeding in infancy	Feeding problem necessitating gastrostomy tube feeding.
HP:0011472	Abnormality of small intestinal villus morphology	
HP:0011473	Villous atrophy	The enteric villi are atrophic or absent.
HP:0011474	Childhood onset sensorineural hearing impairment	Sensorineural hearing impairment with childhood onset.
HP:0011475	Persistent stapedial artery	Persistence of the stapedial artery, which normally regresses during embryonic life.
HP:0011476	Profound sensorineural hearing impairment	Complete loss of hearing related to a sensorineural defect.
HP:0011477	Upbeat nystagmus	In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.
HP:0011478	True anophthalmia	Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.
HP:0011479	Abnormal lacrimal punctum morphology	An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.
HP:0011480	Unilateral microphthalmos	A developmental anomaly characterized by abnormal smallness of one eye.
HP:0011481	Abnormal lacrimal duct morphology	An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.
HP:0011482	Abnormal lacrimal gland morphology	Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.
HP:0011483	Anterior synechiae of the anterior chamber	Adhesions between the iris and the cornea.
HP:0011484	Posterior synechiae of the anterior chamber	Adhesions between the iris and the lens.
HP:0011485	Corneolenticular adhesion	Developmental abnormality in which the lens and cornea are not separated.
HP:0011486	Abnormality of corneal thickness	An abnormal anteroposterior thickness of the cornea.
HP:0011487	Increased corneal thickness	A increased anteroposterior thickness of the cornea.
HP:0011488	Abnormal corneal endothelium morphology	Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.
HP:0011489	Abnormal migration of corneal endothelium	Abnormal migration of corneal endothelium.
HP:0011490	Abnormal Descemet membrane morphology	Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.
HP:0011491	Reduced number of corneal endothelial cells	A reduction in the number of corneal endothelial cells.
HP:0011492	Abnormal corneal stroma morphology	An abnormality of the stroma of cornea, also known as the substantia propria of cornea.
HP:0011493	Central opacification of the cornea	Reduced transparency of the central portion of the corneal stroma.
HP:0011494	Generalized opacification of the cornea	Generalized reduced transparency of the stroma of the cornea.
HP:0011495	Abnormal corneal epithelium morphology	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.
HP:0011496	Corneal neovascularization	Ingrowth of new blood vessels into the cornea.
HP:0011497	Iris neovascularization	New growth of vessels on the surface of the iris.
HP:0011499	Mydriasis	Abnormal dilatation of the iris.
HP:0011500	Polycoria	Multiple pupils.
HP:0011501	Anterior lenticonus	A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
HP:0011502	Posterior lenticonus	A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.
HP:0011503	Aplasia of the fovea	Congenital absence of the fovea.
HP:0011504	Bull's eye maculopathy	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
HP:0011505	Cystoid macular edema	Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.
HP:0011506	Choroidal neovascularization	Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
HP:0011507	Macular flecks	Pale often indistinct lesions of the macula.
HP:0011508	Macular hole	A macular hole is a small break in the macula, located in the center of the retina.
HP:0011509	Macular hyperpigmentation	Increased amount of pigmentation in the macula lutea.
HP:0011510	Drusen	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
HP:0011511	Macular schisis	Splitting of the retina in the macular region.
HP:0011512	Hyperpigmentation of the fundus	Increased pigmentation of the fundus
HP:0011513	Retinal cavernous angioma	A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.
HP:0011514	Abnormality of binocular vision	An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.
HP:0011515	Abnormal stereopsis	Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.
HP:0011516	Achromatopsia	A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
HP:0011517	Cone monochromacy	The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.
HP:0011518	Dichromacy	Individuals affected by dichromacy possess only two types of cones, instead of three.
HP:0011519	Anomalous trichromacy	Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.
HP:0011520	Deuteranomaly	A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.
HP:0011521	Deuteranopia	Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.
HP:0011522	Protanopia	Blue and green cones only; no functional red cones.
HP:0011523	Iris cyst	An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.
HP:0011524	Iris melanoma	Malignant tumor of melanocytes affecting the iris.
HP:0011525	Iris nevus	A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.
HP:0011526	Abnormality of lens shape	An abnormal shape of the lens.
HP:0011527	Lentiglobus	Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.
HP:0011528	Solitary congenital hypertrophy of retinal pigment epithelium	Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.
HP:0011529	Multiple bilateral congenital hypertrophy of retinal pigment epithelium	Sharply demarcated hyperpigmentation which is congenital.
HP:0011530	Retinal hole	A small break in the retina.
HP:0011531	Vitritis	Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.
HP:0011532	Subretinal exudate	A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.
HP:0011533	Snowflake vitreoretinal degeneration	The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.
HP:0011534	Abnormal spatial orientation of the cardiac segments	Abnormality of the spatial relationship of the cardiac segments to other components of the heart.
HP:0011535	Abnormal atrial arrangement	Abnormality of the spatial relationship of the atria to other components of the heart.
HP:0011536	Right atrial isomerism	Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.
HP:0011537	Left atrial isomerism	In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.
HP:0011538	Atrial situs inversus	Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.
HP:0011539	Atrial situs ambiguous	Common atrium without defining morphologic features.
HP:0011540	Congenitally corrected transposition of the great arteries	The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.
HP:0011541	Criss-cross atrioventricular valves	Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.
HP:0011542	Criss-cross atrioventricular valves with superior-inferior ventricles	Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.
HP:0011543	Superior-inferior ventricles without criss-cross atrioventricular valves	
HP:0011544	L-looping of the right ventricle	
HP:0011545	Abnormal connection of the cardiac segments	A deviance in the normal connections between two cardiac segements.
HP:0011546	Abnormal atrioventricular connection	An abnormality of the circulatory connection between atria and ventricles.
HP:0011547	Absent left sided atrioventricular connection	A defect where there is no connection between the left atrium and left ventricle.
HP:0011548	Absent right sided atrioventricular connection	A defect where there is no connection between the right atrium and right ventricle.
HP:0011549	Univentricular heart with absent left sided atrioventricular connection	
HP:0011550	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection	
HP:0011551	Right sided atrium to left ventricle and absent left sided atrioventricular connection	
HP:0011552	Ambiguous atrioventricular connection	With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).
HP:0011553	Discordant atrioventricular connection	Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.
HP:0011554	Double inlet atrioventricular connection	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.
HP:0011555	Double inlet left ventricle	The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.
HP:0011556	Double inlet right ventricle	The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.
HP:0011557	Double inlet to single ventricle of indeterminate morphology	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.
HP:0011558	Double inlet to single ventricle with common atrioventricular orifice	
HP:0011559	Double inlet to single ventricle with two atrioventricular valves	
HP:0011560	Mitral atresia	A congenital defect with failure to open of the mitral valve orifice.
HP:0011561	Overriding atrioventricular valve	An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.
HP:0011562	Straddling atrioventricular valve	Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.
HP:0011563	Abnormal ventriculoarterial connection	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.
HP:0011564	Mitral valve arcade	Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.
HP:0011565	Common atrium	Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
HP:0011566	Cor triatriatum dexter	A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.
HP:0011567	Sinus venosus atrial septal defect	An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.
HP:0011568	Double orifice mitral valve	The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.
HP:0011569	Cleft anterior mitral valve leaflet	Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.
HP:0011570	Congenital mitral stenosis	Mitral stenosis with congenital onset.
HP:0011571	Parachute mitral valve	Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.
HP:0011572	Supramitral ring	A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.
HP:0011573	Hypoplastic tricuspid valve	Congenital defect characterized by underdevelopment of the tricuspid valve.
HP:0011574	Imperforate atrioventricular valve	An atrioventricular valve that has failed to open (atretic).
HP:0011575	Imperforate tricuspid valve	A tricuspid valve that has failed to open.
HP:0011576	Intermediate atrioventricular canal defect	A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.
HP:0011577	Partial atrioventricular canal defect	A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.
HP:0011578	Transitional atrioventricular canal defect	A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.
HP:0011579	Unbalanced atrioventricular canal defect	Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).
HP:0011580	Short chordae tendineae of the mitral valve	Abnormally short chordae tendineae of the mitral valve.
HP:0011581	Double outlet left ventricle	A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.
HP:0011582	Abdominal ectopia cordis	Displacement of the heart outside the thoracic cavity and into the abdomen.
HP:0011583	Cervical ectopia cordis	A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.
HP:0011584	Thoracocervical ectopia cordis	A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.
HP:0011585	Thoracic ectopia cordis	Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.
HP:0011586	Thoracoabdominal ectopia cordis	Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.
HP:0011587	Abnormal branching pattern of the aortic arch	A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.
HP:0011588	Cervical aortic arch	The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.
HP:0011589	Common origin of the right brachiocephalic artery and left common carotid artery	The left common carotid artery has a common origin with the innominate artery.
HP:0011590	Double aortic arch	A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
HP:0011591	Left aortic arch with cervical origin of the right subclavian artery	
HP:0011592	Left aortic arch with isolated subclavian artery	The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.
HP:0011593	Left aortic arch with retroesophageal diverticulum of Kommerell	A patent ductus arteriosus or ductal ligament completes the ring.
HP:0011594	Right aortic arch with retroesophageal diverticulum of Kommerell	Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.
HP:0011595	Left aortic arch with retroesophageal right subclavian artery	Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.
HP:0011596	Left aortic arch with right descending aorta and right ductus arteriosus	The ring may be completed by the ductal ligament.
HP:0011597	Right aortic arch with left descending aorta and left ductus arteriosus	
HP:0011598	Right aortic arch with retroesophageal left subclavian artery	
HP:0011599	Mesocardia	Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.
HP:0011600	Abnormal direction of ventricular apex	Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.
HP:0011601	Rightward direction of ventricular apex	Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.
HP:0011602	Midline direction of ventricular apex	Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.
HP:0011603	Congenital malformation of the great arteries	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.
HP:0011604	Aortopulmonary window	A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.
HP:0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect	A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.
HP:0011608	Type II truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.
HP:0011609	Type III truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.
HP:0011610	Type IV truncus arteriosus	Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.
HP:0011611	Interrupted aortic arch	Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0011612	Interrupted aortic arch type A	Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.
HP:0011613	Interrupted aortic arch type B	Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.
HP:0011614	Interrupted aortic arch type C	Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.
HP:0011615	Abnormal pulmonary situs morphology	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.
HP:0011616	Pulmonary situs inversus	Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.
HP:0011617	Pulmonary situs ambiguus	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.
HP:0011618	Pulmonary situs ambiguus with bilateral morphologic right lungs	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.
HP:0011619	Pulmonary situs ambiguus with bilateral morphologic left lungs	An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.
HP:0011620	Abnormality of abdominal situs	An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.
HP:0011621	Gerbode ventricular septal defect	A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.
HP:0011622	Inlet ventricular septal defect	A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.
HP:0011623	Muscular ventricular septal defect	The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
HP:0011624	Apical muscular ventricular septal defect	A muscular ventricular septal defect located at the apex of the heart.
HP:0011625	Multiple muscular ventricular septal defects	A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.
HP:0011626	Scimitar anomaly	Right pulmonary venous return to the inferior vena cava.
HP:0011627	Aorto-ventricular tunnel	Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.
HP:0011628	Congenital defect of the pericardium	A developmental defect of the pericardium with congenital onset.
HP:0011629	Total absence of the pericardium	No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.
HP:0011630	Complete diaphragmatic absence of pericardium	No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.
HP:0011631	Complete right sided absence of pericardium	No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.
HP:0011632	Partial right sided absence of pericardium	A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.
HP:0011633	Complete left sided absence of pericardium	A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.
HP:0011634	Partial left sided absence of pericardium	A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.
HP:0011635	Partial diaphragmatic absence of pericardium	Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.
HP:0011636	Abnormal coronary artery origin	Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.
HP:0011637	Anomalous origin of coronary artery from the pulmonary artery	A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.
HP:0011638	Anomalous origin of left coronary artery from the pulmonary artery	Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.
HP:0011639	Anomalous origin of right coronary artery from the pulmonary artery	Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.
HP:0011640	Single coronary artery origin	The presence of a single coronary artery ostium from which both coronary arteries arise.
HP:0011641	Coronary artery fistula	A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.
HP:0011642	Abnormal coronary sinus morphology	An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.
HP:0011643	Coronary sinus atrial septal defect	An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.
HP:0011644	Coronary sinus diverticulum	A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.
HP:0011645	Dilatation of the sinus of Valsalva	Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.
HP:0011646	Juxtaductal coarctation of the aorta	Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.
HP:0011647	Postductal coarctation of the aorta	Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.
HP:0011648	Patent ductus arteriosus after birth at term	Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.
HP:0011649	Patent ductus arteriosus after premature birth	Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.
HP:0011650	Bilateral ductus arteriosus	The presence of both a left and a right ductus arteriosus.
HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
HP:0011659	Tetralogy of Fallot with absent pulmonary valve	Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.
HP:0011660	Anomalous origin of one pulmonary artery from ascending aorta	Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.
HP:0011661	Anomalous origin of left pulmonary artery from ascending aorta	The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.
HP:0011662	Tricuspid atresia	Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
HP:0011663	Right ventricular cardiomyopathy	Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
HP:0011664	Left ventricular noncompaction cardiomyopathy	Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.
HP:0011665	Takotsubo cardiomyopathy	Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.
HP:0011666	Absent right superior vena cava	Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.
HP:0011667	Bilateral superior vena cava with bridging vein	
HP:0011668	Bilateral superior vena cava with no bridging vein	
HP:0011669	Left superior vena cava draining directly to the left atrium	A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.
HP:0011670	Left superior vena cava draining to coronary sinus	A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.
HP:0011671	Interrupted inferior vena cava with azygous continuation	Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.
HP:0011672	Cardiac myxoma	A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.
HP:0011673	Cardiac hemangioma	Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.
HP:0011674	Cardiac teratoma	A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.
HP:0011675	Arrhythmia	Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
HP:0011676	Tetralogy of Fallot with absent subarterial conus	
HP:0011677	Tetralogy of Fallot with atrioventricular canal defect	
HP:0011678	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).
HP:0011679	Tetralogy of Fallot with pulmonary stenosis	The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.
HP:0011680	Single ventricle of indeterminate morphology	
HP:0011681	Subarterial ventricular septal defect	A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.
HP:0011682	Perimembranous ventricular septal defect	A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
HP:0011683	Restrictive ventricular septal defect	Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.
HP:0011684	Non-restrictive ventricular septal defect	Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.
HP:0011685	Infra-aortic superior vena cava	The superior vena cava passes below the aortic arch.
HP:0011686	Abnormal coronary artery course	An abnormal path of a coronary artery.
HP:0011687	AV nodal tachycardia	A type of supraventricular tachycardia that originates in the atrioventricular node.
HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway	Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.
HP:0011689	Supraventricular tachycardia with a concealed accessory connection	Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.
HP:0011690	Permanent junctional reciprocating tachycardia	An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.
HP:0011691	Supraventricular tachycardia with a concealed accessory pathway on the left free wall	
HP:0011692	Supraventricular tachycardia with a concealed accessory pathway on the right free wall	
HP:0011693	Supraventricular tachycardia with a concealed accessory pathway on the septum	
HP:0011694	Supraventricular tachycardia with a manifest accessory pathway	
HP:0011695	Cerebellar hemorrhage	Hemorrhage into the parenchyma of the cerebellum.
HP:0011696	Supraventricular tachycardia with a manifest accessory pathway on the left free wall	
HP:0011697	Supraventricular tachycardia with a manifest accessory pathway on the right free wall	
HP:0011698	Supraventricular tachycardia with a manifest accessory pathway on the septum	
HP:0011699	Atrial reentry tachycardia	
HP:0011700	Automatic atrial tachycardia	Chronic supraventricular tachycardia predominantly seen in childhood.
HP:0011701	Multifocal atrial tachycardia	Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
HP:0011702	Abnormal electrophysiology of sinoatrial node origin	An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.
HP:0011703	Sinus tachycardia	Heart rate of greater than 100 beats per minute.
HP:0011704	Sick sinus syndrome	An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.
HP:0011705	First degree atrioventricular block	Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
HP:0011706	Second degree atrioventricular block	An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.
HP:0011707	Mobitz I atrioventricular block	Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).
HP:0011708	Mobitz II atrioventricular block	A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.
HP:0011709	Atrioventricular dissociation	Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.
HP:0011710	Bundle branch block	Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.
HP:0011711	Left anterior fascicular block	Conduction block in the anterior division of the left bundle branch of the bundle of His.
HP:0011712	Right bundle branch block	A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
HP:0011713	Left bundle branch block	A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
HP:0011714	Libman-Sacks lesions	Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.
HP:0011715	Trifascicular block	Abnormal conduction in all three divisions of the intraventricular conducting tissue.
HP:0011716	Junctional ectopic tachycardia	Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.
HP:0011717	Atrioventricular reentrant tachycardia	Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.
HP:0011718	Abnormality of the pulmonary veins	An abnormality of the pulmonary veins.
HP:0011719	Supracardiac total anomalous pulmonary venous connection	Type 1 total anomalous pulmonary venous connection.
HP:0011720	Cardiac total anomalous pulmonary venous connection	Type 2 total anomalous pulmonary venous connection.
HP:0011721	Infracardiac total anomalous pulmonary venous connection	Type 3 total anomalous pulmonary venous connection.
HP:0011722	Mixed total anomalous pulmonary venous connection	Type 4 total anomalous pulmonary venous connection.
HP:0011723	Congenital malformation of the right heart	Defect or defects of the morphogenesis of the right heart identifiable at birth.
HP:0011724	Uhl's anomaly	Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.
HP:0011725	Chaotic multifocal atrial tachycardia	
HP:0011726	Persistent fetal circulation	Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.
HP:0011727	Peroneal muscle weakness	Weakness of the peroneal muscles.
HP:0011728	Elbow clonus	Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.
HP:0011729	Abnormality of joint mobility	An abnormality in the range and ease of motion of joints across their normal range.
HP:0011730	Abnormal central sensory function	An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.
HP:0011731	Abnormality of circulating cortisol level	An abnormality of the concentration of cortisol in the blood.
HP:0011732	Abnormality of adrenal morphology	Any structural anomaly of the adrenal glands.
HP:0011733	Abnormality of adrenal physiology	A functional abnormality of the adrenal glands.
HP:0011734	Central adrenal insufficiency	A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.
HP:0011735	Adrenocorticotropin deficient adrenal insufficiency	Adrenal insufficiency secondary to a defect in ACTH production.
HP:0011736	Primary hyperaldosteronism	A form of hyperaldosteronism caused by a defect within the adrenal gland.
HP:0011737	Corticotropin-releasing hormone deficient adrenal insufficiency	Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.
HP:0011738	Corticotropin-releasing hormone receptor defect	Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.
HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.
HP:0011741	Secondary hyperaldosteronism	A form of hyperaldosteronism caused by abnormally increased renin levels.
HP:0011742	Ectopic adrenal gland	Abnormal anatomical location of the adrenal gland.
HP:0011743	Adrenal gland agenesis	Absent development of the adrenal gland.
HP:0011744	Secondary hypercortisolism	Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.
HP:0011745	Non-secretory adrenocortical adenoma	An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.
HP:0011746	Secretory adrenocortical adenoma	An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.
HP:0011747	Abnormality of the anterior pituitary	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
HP:0011748	Adrenocorticotropic hormone deficiency	A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.
HP:0011749	Adrenocorticotropic hormone excess	Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.
HP:0011750	Neoplasm of the anterior pituitary	A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
HP:0011751	Abnormality of the posterior pituitary	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
HP:0011752	Neoplasm of the posterior pituitary	The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
HP:0011753	Posterior pituitary dysgenesis	Abnormal development of the neurohypophysis during embryonic growth and development.
HP:0011754	Pituicytoma	A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.
HP:0011755	Ectopic posterior pituitary	An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
HP:0011756	Posterior pituitary agenesis	Absence of the neurohypophysis owing to a developmental defect.
HP:0011757	Posterior pituitary hypoplasia	Underdevelopment of the neurohypophysis.
HP:0011758	Pituitary acidophilic stem cell adenoma	
HP:0011759	Pituitary gonadotropic cell adenoma	A type of pituitary adenoma that produces gonadotropins.
HP:0011760	Pituitary growth hormone cell adenoma	A type of pituitary adenoma that produces growth hormone.
HP:0011761	Pituitary null cell adenoma	A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.
HP:0011762	Pituitary thyrotropic cell adenoma	A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).
HP:0011763	Pituitary carcinoma	A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.
HP:0011764	Pituitary spindle cell oncocytoma	A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.
HP:0011766	Abnormality of the parathyroid morphology	A structural abnormality of the parathyroid gland.
HP:0011767	Abnormality of the parathyroid physiology	A functional abnormality of the parathyroid gland.
HP:0011768	Parathyroid dysgenesis	Abnormal embryonic development of the parathyroid gland.
HP:0011769	Ectopic parathyroid	An abnormal anatomical location of the parathyroid gland.
HP:0011770	Tertiary hyperparathyroidism	A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.
HP:0011771	Autoimmune hypoparathyroidism	A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.
HP:0011772	Abnormal thyroid morphology	A structural abnormality of the thyroid gland.
HP:0011773	Uninodular goiter	Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.
HP:0011774	Thyroid follicular adenoma	
HP:0011775	Thyroid macrofollicular adenoma	
HP:0011776	Thyroid microfollicular adenoma	
HP:0011777	Thyroid papillary adenoma	
HP:0011778	Thyroid atypical adenoma	
HP:0011779	Anaplastic thyroid carcinoma	
HP:0011780	Thyroid hemiagenesis	Absence of a lobe of the thyroid gland related to a failure of its embryologic development.
HP:0011781	Thyroid C cell hyperplasia	An abnormal growth of parafollicular (C-cells) cells.
HP:0011782	Thyroid crisis	
HP:0011783	Thyrotoxicosis from ectopic thyroid tissue	
HP:0011784	Thyrotoxicosis with diffuse goiter	
HP:0011785	Thyrotoxicosis with toxic multinodular goiter	
HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	
HP:0011787	Central hypothyroidism	A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
HP:0011788	Increased circulating free T3	An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
HP:0011789	Impaired sensitivity to thyroid stimulating hormone	Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).
HP:0011790	Activating thyroid-stimulating hormone receptor defect	Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.
HP:0011791	Inactivating thyroid-stimulating hormone receptor defect	Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.
HP:0011792	Neoplasm by histology	Neoplasm categorized according to type of histological abnormality.
HP:0011793	Neoplasm by anatomical site	Neoplasm categorized according to the anatomical site of origin of the neoplasm.
HP:0011794	Embryonal renal neoplasm	The presence of an embryonal neoplasm of the kidney that primarily affects children.
HP:0011795	Intralobar nephroblastomatosis	Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).
HP:0011796	Perilobar nephroblastomatosis	Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).
HP:0011797	Papillary renal cell carcinoma type 1	A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.
HP:0011798	Renal oncocytoma	A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.
HP:0011799	Abnormality of facial soft tissue	
HP:0011800	Midface retrusion	Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
HP:0011801	Enlargement of parotid gland	Increased size of the parotid gland.
HP:0011802	Hamartoma of tongue	A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
HP:0011803	Bifid nose	Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
HP:0011804	Abnormal muscle physiology	A functional abnormality of a skeletal muscle.
HP:0011805	Abnormal skeletal muscle morphology	A structural abnormality of a skeletal muscle.
HP:0011807	Type 1 muscle fiber atrophy	Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.
HP:0011808	Decreased patellar reflex	Decreased intensity of the patellar reflex (also known as the knee jerk reflex).
HP:0011809	Paradoxical myotonia	A type of myotonia that worsens with repeated muscle contractions.
HP:0011810	Impaired two-point discrimination	A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.
HP:0011811	Impaired touch localization	A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.
HP:0011812	Agraphesthesia	Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).
HP:0011813	Increased cerebral lipofuscin	Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
HP:0011814	Increased urinary hypoxanthine	An increased level of hypoxanthine in the urine.
HP:0011815	Cephalocele	A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.
HP:0011816	Parietal encephalocele	An encephalocele located between bregma and lambda.
HP:0011817	Basal encephalocele	Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.
HP:0011818	Nasofrontal encephalocele	
HP:0011819	Submucous cleft soft palate	A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.
HP:0011820	Membranous choanal atresia	Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.
HP:0011821	Abnormal facial skeleton morphology	An abnormality of one or more of the set of bones that make up the facial skeleton.
HP:0011822	Broad chin	Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.
HP:0011823	Chin with horizontal crease	Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
HP:0011824	Chin with H-shaped crease	H-shaped crease in the fat pad of the chin.
HP:0011825	Tented philtrum	Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.
HP:0011826	Philtrum with midline raphe	Narrow ridge in the midline of the philtral groove.
HP:0011827	Malaligned philtral ridges	Absence of the usual parallel position of philtral ridges.
HP:0011828	Midline sinus of philtrum	Pit in the midline of the philtral groove.
HP:0011829	Narrow philtrum	Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.
HP:0011830	Abnormal oral mucosa morphology	Abnormality of the oral mucosa.
HP:0011831	Deviated nasal tip	Nasal tip positioned to one side of the midline.
HP:0011832	Narrow nasal tip	Decrease in width of the nasal tip.
HP:0011833	Overhanging nasal tip	Positioning of the nasal tip inferior to the nasal base.
HP:0011834	Moyamoya phenomenon	A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.
HP:0011835	Absent scaphoid	Congenital absence of the scaphoid..
HP:0011836	Delayed talus ossification	Delayed maturation and calcification of the talus.
HP:0011837	Partial IgA deficiency	Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.
HP:0011838	Sclerodactyly	Localized thickening and tightness of the skin of the fingers or toes.
HP:0011839	Abnormal T cell count	A deviation from the normal count of T cells.
HP:0011840	Abnormality of T cell physiology	A functional anomaly of T cells.
HP:0011841	Ventricular flutter	A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.
HP:0011842	Abnormal skeletal morphology	An abnormality of the form, structure, or size of the skeletal system.
HP:0011843	Abnormal musculoskeletal physiology	An abnormality of the function of the skeletal system.
HP:0011844	Abnormal appendicular skeleton morphology	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
HP:0011845	Short second metatarsal	Short (hypoplastic) second metatarsal bone.
HP:0011846	Osteoblastoma	A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.
HP:0011847	Giant cell tumor of bone	A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.
HP:0011848	Abdominal colic	A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.
HP:0011849	Abnormal bone ossification	Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
HP:0011850	Parotitis	Inflammation of the parotid gland.
HP:0011851	Hemopericardium	Accumulation of blood within the pericardial sac.
HP:0011852	Chylopericardium	Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.
HP:0011853	Serous pericardial effusion	Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.
HP:0011854	Hemoperitoneum	Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.
HP:0011855	Pharyngeal edema	Abnormal accumulation of fluid leading to swelling of the pharynx.
HP:0011856	Pica	An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.
HP:0011857	Plasmacytoma	A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.
HP:0011858	Reduced factor IX activity	Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
HP:0011859	Punctate keratitis	A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
HP:0011860	Metaphyseal dappling	The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.
HP:0011861	Bilateral trilobed lung	Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.
HP:0011862	Abnormal bone collagen fibril morphology	Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.
HP:0011863	Abnormal sternal ossification	Any anomaly in the formation of the bony substance of the sternum.
HP:0011864	Elevated plasma pyrophosphate	An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
HP:0011867	Abnormal iliac wing morphology	An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.
HP:0011868	Sciatica	Pain in the lower back and hip radiating in the distribution of the sciatic nerve.
HP:0011869	Abnormal platelet function	Any anomaly in the function of thrombocytes.
HP:0011870	Impaired arachidonic acid-induced platelet aggregation	Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.
HP:0011871	Impaired ristocetin-induced platelet aggregation	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
HP:0011872	Impaired thrombin-induced platelet aggregation	Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).
HP:0011873	Abnormal platelet count	Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.
HP:0011874	Heparin-induced thrombocytopenia	Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.
HP:0011875	Abnormal platelet morphology	An anomaly in platelet form, ultrastructure, or intracellular organelles.
HP:0011876	Abnormal platelet volume	Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
HP:0011877	Increased mean platelet volume	Average platelet volume above the upper limit of the normal reference interval.
HP:0011878	Abnormal platelet membrane protein expression	Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.
HP:0011879	Decreased platelet glycoprotein Ib-IX-V	Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.
HP:0011880	Acute disseminated intravascular coagulation	An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.
HP:0011881	Decreased platelet glycoprotein VI	Decreased cell membrane concentration of glycoprotein VI.
HP:0011882	Decreased platelet P2Y12 receptor	Decreased cell membrane concentration of P2Y12 receptor.
HP:0011883	Abnormal platelet granules	An anomaly of alpha or dense granules or platelet lysosomes.
HP:0011884	Abnormal umbilical stump bleeding	Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
HP:0011885	Hemorrhage of the eye	Bleeding from vessels of the various tissues of the eye.
HP:0011886	Hyphema	Bleeding in the anterior chamber of the eye.
HP:0011887	Choroid hemorrhage	Hemorrhage from the vessels of the choroid.
HP:0011888	Bleeding requiring red cell transfusion	Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).
HP:0011889	Bleeding with minor or no trauma	Significant bleeding or hemorrhage without significant precipitating factor.
HP:0011890	Prolonged bleeding following procedure	Prolonged or protracted bleeding following an invasive procedure or intervention.
HP:0011891	Post-partum hemorrhage	Significant maternal haemorrhage/blood loss following deilvery of a child.
HP:0011892	Low levels of vitamin K	A reduced concentration of vitamin K.
HP:0011893	Abnormal leukocyte count	Number of leukocytes per volume of blood beyond normal limits.
HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.
HP:0011895	Anemia due to reduced life span of red cells	A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.
HP:0011896	Subconjunctival hemorrhage	Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.
HP:0011897	Neutrophilia	Increased number of neutrophils circulating in blood.
HP:0011898	Abnormality of circulating fibrinogen	An abnormality of the level of activity of circulating fibrinogen.
HP:0011899	Hyperfibrinogenemia	Increased concentration of fibrinogen in the blood.
HP:0011900	Hypofibrinogenemia	Decreased concentration of fibrinogen in the blood.
HP:0011901	Dysfibrinogenemia	Qualitatively abnormal fibrinogen.
HP:0011902	Abnormal hemoglobin	Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.
HP:0011903	HbH hemoglobin	Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.
HP:0011904	Persistence of hemoglobin F	Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
HP:0011905	Reduced hemoglobin A	Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.
HP:0011906	Reduced beta/alpha synthesis ratio	A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.
HP:0011907	Reduced alpha/beta synthesis ratio	A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.
HP:0011908	Unilateral radial aplasia	Missing radius bone on one side only associated with congenital failure of development.
HP:0011909	Flattened metacarpal heads	Abnormally flat shape of the heads of the metacarpal bones.
HP:0011910	Shortening of all phalanges of fingers	Abnormal reduction in length affecting all phalanges.
HP:0011911	Abnormal metacarpophalangeal joint morphology	An anomaly of a metacarpophalangeal joint.
HP:0011912	Abnormality of the glenoid fossa	An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
HP:0011913	Lumbar hypertrichosis	Excessive, increased hair growth located in the lumbar region.
HP:0011914	Thoracic hypertrichosis	Excessive, increased hair growth located in the thoracic region.
HP:0011915	Cardiovascular calcification	Abnormal calcification in the cardiovascular system.
HP:0011916	Toe extensor amyotrophy	Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.
HP:0011917	Short 5th toe	Underdevelopment (hypoplasia) of the fifth toe.
HP:0011918	Clinodactyly of the 4th toe	Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).
HP:0011919	Pleural empyema	Accumulation of pus in the pleural cavity.
HP:0011920	Transudative pleural effusion	A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.
HP:0011921	Exudative pleural effusion	A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.
HP:0011922	Abnormal activity of mitochondrial respiratory chain	An increased or decreased activity of the mitochondrial respiratory chain.
HP:0011923	Decreased activity of mitochondrial complex I	A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
HP:0011924	Decreased activity of mitochondrial complex III	A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
HP:0011925	Decreased activity of mitochondrial ATP synthase complex	A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.
HP:0011926	Proximal placement of hallux	Proximal mislocalization of the big toe from its normal position.
HP:0011927	Short digit	One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
HP:0011928	Short proximal phalanx of toe	Developmental hypoplasia (shortening) of proximal phalanx of toe.
HP:0011929	Hypersegmentation of proximal phalanx of third finger	Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.
HP:0011930	Hyperextensible skin of chest	
HP:0011931	Abnormal cerebellar peduncle morphology	An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.
HP:0011932	Abnormal superior cerebellar peduncle morphology	An anomaly of the superior cerebellar peduncle.
HP:0011933	Elongated superior cerebellar peduncle	Increased length of the superior cerebellar peduncle.
HP:0011934	Dilatation of mesenteric artery	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .
HP:0011935	Decreased urinary urate	Decreased concentration of urate in the urine.
HP:0011936	Decreased plasma total carnitine	A decreased concentration of total carnitine in the blood.
HP:0011937	Hypoplastic fifth toenail	Underdeveloped nails of the fifth toes.
HP:0011939	3-4 finger cutaneous syndactyly	A soft tissue continuity in the A/P axis between fingers 3 and 4.
HP:0011940	Anterior wedging of T12	An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).
HP:0011941	Anterior wedging of L2	An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).
HP:0011942	Increased urinary sulfite	Increased concentration of SO3(2-), i.e., sulfite, in the urine.
HP:0011943	Increased urinary thiosulfate	Increased concentration of thiosulfate(2-) in the urine.
HP:0011944	Small vessel vasculitis	A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.
HP:0011945	Bronchiolitis obliterans organizing pneumonia	Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.
HP:0011946	Bronchiolitis obliterans	Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.
HP:0011947	Respiratory tract infection	An infection of the upper or lower respiratory tract.
HP:0011948	Recurrent acute respiratory tract infection	A history of repeated acute infections of the upper or lower respiratory tract.
HP:0011949	Acute infectious pneumonia	Acute inflammation of the lung due to an infection.
HP:0011950	Bronchiolitis	Inflammation of the bronchioles.
HP:0011951	Aspiration pneumonia	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
HP:0011952	Acute aspiration pneumonia	An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
HP:0011953	Pulmonary lymphoma	Lung parenchymal involvement with lymphoma.
HP:0011954	Nodular regenerative hyperplasia of liver	Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
HP:0011955	Hepatic granulomatosis	The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.
HP:0011956	Intestinal lymphoid nodular hyperplasia	A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.
HP:0011957	Abnormal pectoral muscle morphology	An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.
HP:0011958	Retinal perforation	A small hole through the whole thickness of the retina.
HP:0011959	Unilateral hypoplasia of pectoralis major muscle	Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.
HP:0011960	Substantia nigra gliosis	Focal proliferation of glial cells in the substantia nigra.
HP:0011961	Non-obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
HP:0011962	Obstructive azoospermia	Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
HP:0011963	Pretesticular azoospermia	Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.
HP:0011964	Intermittent painful muscle spasms	History of repeated intermittent involuntary muscle contractions that were painful.
HP:0011965	Abnormal circulating citrulline concentration	Any deviation from the normal concentration of citrulline in the blood circulation.
HP:0011966	Elevated plasma citrulline	An increased concentration of citrulline in the blood.
HP:0011967	Decreased circulating copper concentration	A reduced concentration of copper in the blood.
HP:0011968	Feeding difficulties	Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
HP:0011969	Elevated circulating luteinizing hormone level	An elevated concentration of luteinizing hormone in the blood.
HP:0011970	Cerebral amyloid angiopathy	Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.
HP:0011971	Dermatographic urticaria	An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).
HP:0011972	Hypoglycorrhachia	Abnormally low glucose concentration in the cerebrospinal fluid.
HP:0011973	Paroxysmal lethargy	Repeated episodes of sudden-onset and transient lethargy.
HP:0011974	Myelofibrosis	Replacement of bone marrow by fibrous tissue.
HP:0011975	Aminoglycoside-induced hearing loss	Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.
HP:0011976	Elevated urinary catecholamines	An increased concentration of catecholamine in the urine.
HP:0011977	Elevated urinary homovanillic acid	An increased concentration of homovanillic acid in the urine.
HP:0011978	Elevated urinary vanillylmandelic acid	An increased concentration of vanillylmandelic acid in the urine.
HP:0011979	Elevated urinary dopamine	An increased concentration of dopamine in the urine.
HP:0011980	Cholesterol gallstones	Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.
HP:0011981	Pigment gallstones	Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.
HP:0011982	Black pigment gallstones	A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.
HP:0011983	Brown pigment gallstones	A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.
HP:0011984	Atretic gallbladder	Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.
HP:0011985	Acholic stools	Clay colored stools lacking bile pigment.
HP:0011986	Ectopic ossification	Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.
HP:0011987	Ectopic ossification in muscle tissue	Formation of abnormal bony tissue within muscle tissue.
HP:0011988	Ectopic ossification in tendon tissue	Formation of abnormal bony tissue within tendon tissue.
HP:0011989	Ectopic ossification in ligament tissue	Formation of abnormal bony tissue within ligament tissue.
HP:0011990	Abnormality of neutrophil physiology	A functional abnormality of neutrophils.
HP:0011991	Abnormal neutrophil count	A deviation from the normal range of neutrophil cell counts in the circulation.
HP:0011992	Abnormality of neutrophil morphology	An abnormal form or size of neutrophils.
HP:0011993	Impaired neutrophil bactericidal activity	A reduction in the ability of neutrophils to kill bacteria.
HP:0011994	Abnormal atrial septum morphology	An abnormality of the interatrial septum.
HP:0011995	Atrial septal dilatation	A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.
HP:0011996	Elevated coagulation factor V activity	Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
HP:0011997	Postprandial hyperlactemia	Abnormally increased level of blood lactate following a meal.
HP:0011998	Postprandial hyperglycemia	An increased concentration of glucose in the blood following a meal.
HP:0011999	Paranoia	A persecutory delusion of supposed hostility of others.
HP:0012000	EEG with generalized spikes	EEG with generalized sharp transient waves of a duration less than 80 msec.
HP:0012001	EEG with generalized polyspikes	EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.
HP:0012002	Experiential epileptic aura	Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.
HP:0012003	Affective epileptic aura	Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.
HP:0012004	Focal cognitive seizure with deja vu/jamais vu	A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.
HP:0012005	Deja vu aura	A subjective feeling that an experience which is occurring for the first time has been experienced before.
HP:0012006	Jamais vu aura	A subjective feeling that an experience which has occurred before is being experienced for the first time.
HP:0012007	Focal cognitive seizure with hallucination	A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.
HP:0012008	Focal cognitive seizure with illusion	A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.
HP:0012009	EEG with central focal spike waves	EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
HP:0012010	EEG with frontal focal spike waves	EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
HP:0012011	EEG with occipital focal spike waves	EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
HP:0012012	EEG with parietal focal spike waves	EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
HP:0012013	EEG with temporal focal spike waves	EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
HP:0012014	EEG with central focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the central region.
HP:0012015	EEG with frontal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.
HP:0012016	EEG with occipital focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.
HP:0012017	EEG with parietal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.
HP:0012018	EEG with temporal focal spikes	EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.
HP:0012019	Lens luxation	Complete dislocation of the lens of the eye.
HP:0012020	Right aortic arch	Aorta descends on right instead of on the left.
HP:0012021	Persistent patent ductus venosus	Persistence of blood flow through the ductus venosus for longer than the normal time after birth.
HP:0012022	Congenital portosystemic venous shunt	A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).
HP:0012023	Galactosuria	Elevated concentration of galactose in the urine.
HP:0012024	Hypergalactosemia	Elevated concentration of galactose in the blood.
HP:0012025	Abnormal circulating ornithine concentration	Deviation from the normal concentration of ornithine in the blood circulation.
HP:0012026	Hyperornithinemia	Increased concentration of ornithine in the blood.
HP:0012027	Laryngeal edema	An abnormal accumulation of fluid and swelling in the tissues of the larynx.
HP:0012028	Hepatocellular adenoma	A benign tumor of the liver of presumably epithelial origin.
HP:0012029	Abnormal urine hormone level	An abnormal concentration of a hormone in the urine.
HP:0012030	Increased urinary cortisol level	Abnormally increased concentration of cortisol in the urine.
HP:0012031	Lipomatous tumor	
HP:0012032	Lipoma	Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
HP:0012033	Sacral lipoma	Presence of a lipoma in the region of the sacrum.
HP:0012034	Liposarcoma	Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.
HP:0012035	Steatocystoma multiplex	Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).
HP:0012036	Sternocleidomastoid amyotrophy	Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.
HP:0012037	Pectoralis amyotrophy	Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.
HP:0012038	Corneal guttata	Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
HP:0012039	Descemet Membrane Folds	Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.
HP:0012040	Corneal stromal edema	Abnormal accumulation of fluid and swelling of the stroma of cornea.
HP:0012041	Decreased fertility in males	
HP:0012042	Aspirin-induced asthma	A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.
HP:0012043	Pendular nystagmus	Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
HP:0012044	Seesaw nystagmus	Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.
HP:0012045	Retinal flecks	Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.
HP:0012046	Areflexia of upper limbs	Inability to elicit tendon reflexes in the upper limbs.
HP:0012047	Hemeralopia	A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
HP:0012048	Oromandibular dystonia	A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
HP:0012049	Laryngeal dystonia	A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
HP:0012050	Anasarca	An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
HP:0012051	Reactive hypoglycemia	Hypoglycermia following a meal (or more generally, after intake of glucose).
HP:0012052	Low serum calcitriol	A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
HP:0012053	Decreased circulating calcifediol concentration	A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.
HP:0012054	Choroidal melanoma	Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).
HP:0012055	Ciliary body melanoma	Malignant tumor of melanocytes of the ciliary body.
HP:0012056	Cutaneous melanoma	The presence of a melanoma of the skin.
HP:0012057	Superficial spreading melanoma	A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.
HP:0012058	Nodular melanoma	A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.
HP:0012059	Lentigo maligna melanoma	A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.
HP:0012060	Acral lentiginous melanoma	A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.
HP:0012061	Urinary excretion of sialylated oligosaccharides	Excretion of oligosaccharides conjugated to sialic acid in the urine.
HP:0012062	Bone cyst	A fluid filled cavity that develops with a bone.
HP:0012063	Aneurysmal bone cyst	Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.
HP:0012064	Unicameral bone cyst	A benign fluid filled simple cyst of bone filled with serous fluid.
HP:0012065	Multiple bony cystic lesions	Presence of multiple cystic changes in multiple areas or multiple bones.
HP:0012066	Increased urinary disaccharide excretion	Increased concentration of disaccharide in the urine.
HP:0012067	Glycopeptiduria	Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.
HP:0012068	Aspartylglucosaminuria	Excretion of excess amounts of aspartylglucosamine in the urine.
HP:0012069	Keratan sulfate excretion in urine	An increased concentration of keratan sulfate in the urine.
HP:0012070	Chondroitin sulfate excretion in urine	An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.
HP:0012071	Abnormal circulating acetylcarnitine concentration	Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.
HP:0012072	Aciduria	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.
HP:0012073	Abnormal urinary acylglycine profile	An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.
HP:0012074	Tonic pupil	An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.
HP:0012075	Personality disorder	An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.
HP:0012076	Borderline personality disorder	A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.
HP:0012077	Histrionic personality disorder	A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.
HP:0012078	Motor conduction block	Blockade of impulses at a focal site along the course of a motor axon.
HP:0012079	Abnormality of central motor conduction	Any anomaly of the conduction of motor nerve impulses in the central nervous system.
HP:0012080	Cerebellar granular layer atrophy	Atrophy of the cerebellum affecting primarily the granular cell layer.
HP:0012081	Enlarged cerebellum	An abnormally increased size of the cerebellum compared to other brain structures.
HP:0012082	Cerebellar Purkinje layer atrophy	Atrophy of the cerebellum affecting primarily the Purkinje cell layer.
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.
HP:0012084	Abnormality of skeletal muscle fiber size	Any abnormality of the size of the skeletal muscle cell.
HP:0012085	Pyuria	The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.
HP:0012086	Abnormal urinary color	An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.
HP:0012087	Abnormal mitochondrial shape	An anomaly in the surface contour of mitochondria.
HP:0012088	Abnormal urinary odor	A deviation from the normal odor of the urine.
HP:0012089	Arteritis	Arterial inflammation.
HP:0012090	Abnormal pancreas morphology	
HP:0012091	Abnormality of pancreas physiology	An anomaly of the function of the pancreas.
HP:0012092	Abnormality of exocrine pancreas physiology	A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.
HP:0012093	Abnormality of endocrine pancreas physiology	A function abnormality of the endocrine pancreas.
HP:0012094	Abnormal pancreas size	A deviation from the normal size of the pancreas.
HP:0012095	Multiple joint dislocation	Dislocation of many joints.
HP:0012096	Intracranial epidermoid cyst	A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.
HP:0012097	Intracranial dermoid cyst	A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.
HP:0012098	Edema of the dorsum of feet	An abnormal accumulation of fluid beneath the skin on the back of the feet.
HP:0012099	Abnormality of circulating catecholamine level	An abnormal catecholamine concentration in the blood.
HP:0012100	Abnormal circulating creatinine concentration	An abnormal concentration of creatinine in the blood.
HP:0012101	Decreased serum creatinine	An abnormally reduced amount of creatinine in the blood.
HP:0012102	Abnormal mitochondrial number	A deviation from the normal number of mitochondria per cell.
HP:0012103	Abnormality of the mitochondrion	An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
HP:0012104	Parietal cortical atrophy	Atrophy of the parietal cortex.
HP:0012105	Occipital cortical atrophy	Atrophy of the occipital cortex.
HP:0012106	Rhizomelic leg shortening	Disproportionate shortening of the proximal segment of the leg (i.e. the femur).
HP:0012107	Increased fibular diameter	Increased width of the cross sectional diameter of the fibula.
HP:0012108	Open angle glaucoma	A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,
HP:0012109	Angle closure glaucoma	A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).
HP:0012110	Hypoplasia of the pons	Underdevelopment of the pons.
HP:0012111	Abnormality of circulating glucocorticoid level	An abnormality of the concentration of a glucocorticoid in the blood.
HP:0012112	Abnormal circulating corticosterone level	An abnormality of the concentration of corticosterone in the blood.
HP:0012113	Abnormal circulating creatine concentration	A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.
HP:0012114	Endometrial carcinoma	A carcinoma of the endometrium, the mucous lining of the uterus.
HP:0012115	Hepatitis	Inflammation of the liver.
HP:0012116	Abnormal circulating albumin concentration	Deviation from normal concentration of albumin in the blood.
HP:0012117	Hyperalbuminemia	Elevation in the concentration of albumin in the blood.
HP:0012118	Laryngeal carcinoma	A carcinoma of the larynx.
HP:0012119	Methemoglobinemia	Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.
HP:0012120	Methylmalonic aciduria	Increased concentration of methylmalonic acid in the urine.
HP:0012121	Panuveitis	Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.
HP:0012122	Anterior uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.
HP:0012123	Posterior uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.
HP:0012124	Intermediate uveitis	Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.
HP:0012125	Prostate cancer	A cancer of the prostate.
HP:0012126	Stomach cancer	A cancer arising in any part of the stomach.
HP:0012127	Uraciluria	Increased concentration of uracil in the urine.
HP:0012128	Basal ganglia necrosis	Death of cells in the basal ganglia.
HP:0012129	Abnormality of bone marrow stromal cells	
HP:0012130	Abnormal erythroid lineage cell morphology	An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.
HP:0012131	Abnormal number of erythroid precursors	A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
HP:0012132	Erythroid hyperplasia	Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
HP:0012133	Erythroid hypoplasia	Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
HP:0012134	Dysplastic erythropoesis	
HP:0012135	Abnormal granulocytopoietic cell morphology	An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.
HP:0012136	Dysplastic granulopoesis	
HP:0012137	Abnormal number of granulocyte precursors	
HP:0012138	Granulocytic hyperplasia	
HP:0012139	Granulocytic hypoplasia	Decreased number of granulocyte precursors in the bone marrow.
HP:0012142	Pancreatic squamous cell carcinoma	A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.
HP:0012143	Abnormal megakaryocyte morphology	Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.
HP:0012144	Abnormal monocyte morphology	Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
HP:0012145	Abnormality of multiple cell lineages in the bone marrow	
HP:0012146	Abnormality of von Willebrand factor	Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
HP:0012147	Reduced quantity of Von Willebrand factor	Decreased quantity of von Willebrand factor.
HP:0012148	Multiple lineage myelodysplasia	Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.
HP:0012149	Bilineage myelodysplasia	Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.
HP:0012150	Single lineage myelodysplasia	Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).
HP:0012151	Hemothorax	The presence of blood in the pleural space.
HP:0012152	Foveoschisis	Splitting of the retinal layers in the macula.
HP:0012153	Hypotriglyceridemia	An decrease in the level of triglycerides in the blood.
HP:0012154	Anhedonia	Inability to experience pleasure activities usually found enjoyable.
HP:0012155	Decreased corneal sensation	Reduced ability of the cornea to respond to stimulation.
HP:0012156	Hemophagocytosis	Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
HP:0012157	Subcortical cerebral atrophy	Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.
HP:0012158	Carotid artery dissection	A separation (dissection) of the layers of the carotid artery wall.
HP:0012159	Internal carotid artery dissection	A separation (dissection) of the layers of the internal carotid artery wall.
HP:0012160	Intracranial internal carotid artery dissection	A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.
HP:0012161	External carotid artery dissection	A separation (dissection) of the layers of the external carotid artery wall.
HP:0012162	Common carotid artery dissection	A separation (dissection) of the layers of the common carotid artery wall.
HP:0012163	Carotid artery dilatation	A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.
HP:0012164	Asterixis	A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.
HP:0012165	Oligodactyly	A developmental defect resulting in the presence of fewer than the normal number of digits.
HP:0012166	Skin-picking	Repetitive and compulsive picking of skin which results in tissue damage.
HP:0012167	Hair-pulling	A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.
HP:0012168	Head-banging	Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
HP:0012169	Self-biting	Habitual biting of one's own body.
HP:0012170	Nail-biting	Habitual biting of one's own fingernails.
HP:0012171	Stereotypical hand wringing	Habitual clasping and squeezing of the hands.
HP:0012172	Stereotypical body rocking	Habitual repetitive movement of the entire body.
HP:0012173	Orthostatic tachycardia	An increase in heart rate with standing of 30 beats per minute or more.
HP:0012174	Glioblastoma multiforme	A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.
HP:0012175	Resistance to activated protein C	Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.
HP:0012176	Abnormal natural killer cell morphology	An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.
HP:0012177	Abnormal natural killer cell physiology	A functional anomaly of the natural killer cell.
HP:0012178	Reduced natural killer cell activity	Reduced ability of the natural killer cell to function in the adaptive immune response.
HP:0012179	Craniofacial dystonia	A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
HP:0012180	Cystic medial necrosis	A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.
HP:0012181	Entrapment neuropathy	Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.
HP:0012182	Oropharyngeal squamous cell carcinoma	A squamous cell carcinoma that originates in the oropharnyx.
HP:0012183	Hyperplastic colonic polyposis	Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.
HP:0012184	Increased HDL cholesterol concentration	An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
HP:0012185	Constrictive median neuropathy	Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.
HP:0012186	Entrapment neuropathy of the ulnar nerve at elbow	An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.
HP:0012187	Increased erythrocyte protoporphyrin concentration	An increased concentration of protoporphyrins in erythrocytes.
HP:0012188	Hyperemesis gravidarum	Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.
HP:0012189	Hodgkin lymphoma	A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.
HP:0012190	T-cell lymphoma	A type of lymphoma that originates in T-cells.
HP:0012191	B-cell lymphoma	A type of lymphoma that originates in B-cells.
HP:0012192	Cutaneous T-cell lymphoma	A type of T-cell lymphoma that exhibits malignant infiltration of the skin.
HP:0012193	Anaplastic large-cell lymphoma	A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.
HP:0012194	Episodic hemiplegia	Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.
HP:0012195	Irregular respiration	Uneven rhythm of breathing.
HP:0012196	Cheyne-Stokes respiration	An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.
HP:0012197	Insulinoma	A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
HP:0012198	Juvenile colonic polyposis	The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.
HP:0012199	Cluster headache	A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.
HP:0012200	Abnormality of prothrombin	An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.
HP:0012202	Increased serum bile acid concentration	An increase in the concentration of bile acid in the blood.
HP:0012203	Onychomycosis	A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
HP:0012204	Recurrent vulvovaginal candidiasis	Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.
HP:0012205	Globozoospermia	Any structural anomaly of the acrosome resulting in a round sperm head.
HP:0012206	Abnormal sperm motility	An anomaly of the mobility of ejaculated sperm.
HP:0012207	Reduced sperm motility	An abnormal reduction in the mobility of ejaculated sperm.
HP:0012208	Immotile sperm	A lack of mobility of ejaculated sperm.
HP:0012209	Juvenile myelomonocytic leukemia	Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.
HP:0012210	Abnormal renal morphology	Any structural anomaly of the kidney.
HP:0012211	Abnormal renal physiology	An abnormal functionality of the kidney.
HP:0012212	Abnormal glomerular filtration rate	An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
HP:0012213	Decreased glomerular filtration rate	An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
HP:0012214	Increased glomerular filtration rate	An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
HP:0012215	Testicular microlithiasis	The deposition of calcium phosphate microliths within the seminiferous tubules.
HP:0012216	Entrapment neuropathy of suprascapular nerve	An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.
HP:0012217	Increased urinary porphobilinogen	Increased concentration of porphobilinogen in the urine.
HP:0012218	Alveolar soft part sarcoma	A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.
HP:0012219	Erythema nodosum	An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
HP:0012220	Non-caseating epithelioid cell granulomatosis	The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).
HP:0012221	Pretibial blistering	A type of blistering that affects the skin of the tibial region.
HP:0012222	Arachnoid hemangiomatosis	The presence of multiple hemangiomas in the arachnoid.
HP:0012223	Splenic rupture	A breach of the capsule of the spleen.
HP:0012224	Circulating immune complexes	Persistence of immune complexes in the blood circulation.
HP:0012225	Oligodontia of primary teeth	Reduced number of primary teeth.
HP:0012226	Ovarian teratoma	The presence of a teratoma in the ovary.
HP:0012227	Urethral stricture	Narrowing of the urethra associated with inflammation or scar tissue.
HP:0012228	Tension-type headache	A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.
HP:0012229	CSF pleocytosis	An increased white blood cell count in the cerebrospinal fluid.
HP:0012230	Rhegmatogenous retinal detachment	A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.
HP:0012231	Exudative retinal detachment	A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.
HP:0012232	Shortened QT interval	Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
HP:0012233	Intramuscular hematoma	Blood clot formed within muscle tissue following leakage of blood into the tissue.
HP:0012234	Agranulocytosis	Marked decrease in the number of granulocytes.
HP:0012235	Drug-induced agranulocytosis	A type of agranulocytosis related to ingestion of a specific medication.
HP:0012236	Elevated sweat chloride	An increased concentration of chloride in the sweat.
HP:0012237	Urocanic aciduria	An increased concentration of urocanic acid in the urine.
HP:0012238	Increased circulating chylomicron concentration	Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.
HP:0012239	Atransferrinemia	Absence of transferrin, a protein that transports iron, in the blood.
HP:0012240	Increased intramyocellular lipid droplets	An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.
HP:0012241	Levator palpebrae superioris atrophy	Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.
HP:0012242	Superior rectus atrophy	Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.
HP:0012243	Abnormal reproductive system morphology	A structural or developmental anomaly of any of the tissues involved in the genital system.
HP:0012244	Abnormal sex determination	Anomaly of primary or secondary sexual development or characteristics.
HP:0012245	Sex reversal	Development of the reproductive system is inconsistent with the chromosomal sex.
HP:0012246	Oculomotor nerve palsy	Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).
HP:0012247	Specific anosmia	Anosmia for one particular odor.
HP:0012248	Prolonged PR interval	Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
HP:0012249	Abnormal ST segment	An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.
HP:0012250	ST segment depression	An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.
HP:0012251	ST segment elevation	An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.
HP:0012252	Abnormal respiratory system morphology	A structural anomaly of the respiratory system.
HP:0012253	Abnormal respiratory epithelium morphology	Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.
HP:0012254	Ewing sarcoma	A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.
HP:0012255	Dynein arm defect of respiratory motile cilia	An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.
HP:0012256	Absent outer dynein arms	Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
HP:0012257	Absent inner dynein arms	Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
HP:0012258	Abnormal axonemal organization of respiratory motile cilia	Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.
HP:0012259	Absent inner and outer dynein arms	Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
HP:0012260	Abnormal central microtubular pair morphology of respiratory motile cilia	A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
HP:0012261	Abnormal respiratory motile cilium physiology	Any functional anomaly of the respiratory motile cilia.
HP:0012262	Abnormal ciliary motility	Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
HP:0012263	Immotile cilia	
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
HP:0012265	Ciliary dyskinesia	A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.
HP:0012266	T-wave alternans	A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.
HP:0012267	Absent respiratory ciliary axoneme radial spokes	Absence of the radial spokes of the axoneme of the respiratory cilium.
HP:0012268	Myxoid liposarcoma	A liposarcoma that contains myxomatous tissue.
HP:0012269	Abnormal muscle glycogen content	Any anomaly in the amount of glycogen in muscle tissue.
HP:0012270	Decreased muscle glycogen content	A decreased amount of glycogen in muscle tissue.
HP:0012271	Episodic upper airway obstruction	Intermittent episodes of increased resistance to the passage of air in the upper airway.
HP:0012272	J wave	The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.
HP:0012273	Increased carotid artery intimal medial thickness	An increase in the combined thickness of the intima and media of the carotid artery.
HP:0012274	Autosomal dominant inheritance with paternal imprinting	A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.
HP:0012275	Autosomal dominant inheritance with maternal imprinting	A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.
HP:0012276	Digital flexor tenosynovitis	Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.
HP:0012277	Hypoglycinemia	An abnormally reduced concentration of glycine in the blood.
HP:0012278	Abnormal circulating serine concentration	Any deviation from the normal concentration of serine in the blood circulation.
HP:0012279	Hyposerinemia	Reduced concentration of serine in the blood.
HP:0012280	Hepatic amyloidosis	A form of amyloidosis that affects the liver.
HP:0012281	Chylous ascites	Extravasation of chyle into the peritoneal cavity.
HP:0012282	Morbilliform rash	An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.
HP:0012283	Small distal femoral epiphysis	Reduced size of the Distal epiphysis of femur.
HP:0012284	Small proximal tibial epiphyses	Reduced size of the proximal epiphysis of the tibia.
HP:0012285	Abnormal hypothalamus physiology	An abnormal functionality of the hypothalamus.
HP:0012286	Abnormal hypothalamus morphology	Any structural anomaly of the hypothalamus.
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.
HP:0012288	Neoplasm of head and neck	A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.
HP:0012289	Facial neoplasm	A tumor (abnormal growth of tissue) of the face.
HP:0012292	Fusion of gums	A congenital defect with an abnormal joining of the gums of the upper and lower jaw.
HP:0012293	Abnormal genital pigmentation	An abnormal pigmentation pattern of the external genitalia.
HP:0012294	Abnormal occipital bone morphology	Abnormality of the occipital bone of the skull.
HP:0012295	Slender middle phalanx of finger	Reduced diameter of the middle phalanx of finger.
HP:0012296	Slender distal phalanx of finger	Reduced diameter of the distal phalanx of finger.
HP:0012297	Slender proximal phalanx of finger	Reduced diameter of the proximal phalanx of finger.
HP:0012298	Long middle phalanx of finger	Increased length of the middle phalanx of finger.
HP:0012299	Long distal phalanx of finger	Increased length of the distal phalanx of finger.
HP:0012300	Ureteral agenesis	Failure of the ureter to undergo development.
HP:0012301	Type II transferrin isoform profile	Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.
HP:0012302	Herpes simplex encephalitis	Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.
HP:0012303	Abnormal aortic arch morphology	An anomaly of the arch of aorta.
HP:0012304	Hypoplastic aortic arch	Underdevelopment of the arch of aorta.
HP:0012305	Coarctation of the descending aortic arch	Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.
HP:0012306	Abnormal rib ossification	An anomaly of the process of rib bone formation.
HP:0012307	Spatulate ribs	Ribs that are increased in width and taper to the posterior ends.
HP:0012308	Decreased circulating complement C9 concentration	Concentration of the complement component C9 in the blood circulation below the lower limit of normal.
HP:0012309	Cutaneous amyloidosis	The presence of amyloid deposition in the superficial dermis.
HP:0012310	Abnormal monocyte count	An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
HP:0012311	Monocytosis	An increased number of circulating monocytes.
HP:0012312	Monocytopenia	An decreased number of circulating monocytes.
HP:0012313	Heberden's node	Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.
HP:0012314	Bouchard's node	Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.
HP:0012315	Histiocytoma	A neoplasm containing histiocytes.
HP:0012316	Fibrous tissue neoplasm	Any neoplasm composed of fibrous tissue.
HP:0012317	Sacroiliac arthritis	Inflammation of the sacroiliac joint, generally accompanied by lower back pain.
HP:0012318	Occipital neuralgia	A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.
HP:0012319	Absent pigmentation of the abdomen	Lack of skin pigmentation (coloring) of the abdomen.
HP:0012320	Absent pigmentation of the limbs	Lack of skin pigmentation (coloring) of the arms and legs.
HP:0012321	D-2-hydroxyglutaric aciduria	An increased concentration of 2-hydroxyglutaric acid in the urine.
HP:0012322	Perifolliculitis	Inflammation surrounding hair follicles.
HP:0012323	Sleep myoclonus	Myoclonus that occurs during the initial phases of sleep.
HP:0012324	Myeloid leukemia	A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.
HP:0012325	Chronic myelomonocytic leukemia	A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.
HP:0012326	Abnormal celiac artery morphology	An anomaly of the celiac artery.
HP:0012327	Celiac artery compression	Compression of the celiac artery.
HP:0012328	Cementoma	An odontogenic tumor of the cementum of tooth.
HP:0012329	Tufted angioma	A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.
HP:0012330	Pyelonephritis	An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
HP:0012331	Abnormal autonomic nervous system morphology	A structural abnormality of the autonomic nervous system.
HP:0012332	Abnormal autonomic nervous system physiology	A functional abnormality of the autonomic nervous system.
HP:0012333	Abnormal sudomotor regulation	An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.
HP:0012334	Extrahepatic cholestasis	Impairment of bile flow due to obstruction in large bile ducts outside the liver.
HP:0012335	Abnormality of folate metabolism	An abnormality of the metabolism of folic acid, which is also known as vitamin B9.
HP:0012337	Abnormal homeostasis	An anomaly in the processes involved in the maintenance of an internal equilibrium.
HP:0012338	Abnormal energy expenditure	Any anomaly in the utilization of energy (calories).
HP:0012339	Increased resting energy expenditure	An increase in the number of calories used per unit time.
HP:0012340	Decreased resting energy expenditure	A reduction in the number of calories used per unit time.
HP:0012341	Microprolactinoma	A pituitary prolactin cell adenoma of less than 10 mm diameter.
HP:0012342	Macroprolactinoma	A pituitary prolactin cell adenoma of more than 10 mm diameter.
HP:0012343	Decreased circulating ferritin concentration	Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.
HP:0012344	Morphea	Isolated patches of hardened skin (scleroderma).
HP:0012345	Abnormal glycosylation	An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.
HP:0012346	Abnormal protein glycosylation	An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
HP:0012347	Abnormal protein N-linked glycosylation	An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.
HP:0012348	Decreased galactosylation of N-linked protein glycosylation	A reduction in the amount of galactose residues of N-glycans.
HP:0012349	Abnormal sialylation of N-linked protein glycosylation	An anomaly of the addition of sialic acids to N-linked glycans.
HP:0012350	Decreased sialylation of N-linked protein glycosylation	Decreased addition of sialic acids to N-linked glycans.
HP:0012351	Increased sialylation of N-linked protein glycosylation	Increased addition of sialic acids to N-linked glycans.
HP:0012352	Abnormal fucosylation of protein N-linked glycosylation	An anomaly of the addition of fucose sugar units to N-linked glycans.
HP:0012353	Decreased fucosylation of N-linked protein glycosylation	Decreased addition of fucose sugar units to N-linked glycans.
HP:0012354	Increased fucosylation of N-linked protein glycosylation	Increased addition of fucose sugar units to N-linked glycans.
HP:0012355	Abnormal mannosylation of N-linked protein glycosylation	An anomaly of the addition of mannose to N-linked glycans.
HP:0012356	Decreased mannosylation of N-linked protein glycosylation	Reduced addition of mannose to N-linked glycans.
HP:0012357	Increased mannosylation of N-linked protein glycosylation	Increased addition of mannose to N-linked glycans.
HP:0012358	Abnormal protein O-linked glycosylation	An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.
HP:0012359	Abnormal fucosylation of O-linked protein glycosylation	An anomaly of the addition of fucose sugar units to O-linked glycans.
HP:0012360	Decreased fucosylation of O-linked protein glycosylation	A reduction of the addition of fucose sugar units to O-linked glycans.
HP:0012361	Increased fucosylation of O-linked protein glycosylation	Increased addition of fucose sugar units to O-linked glycans.
HP:0012362	Abnormal sialylation of O-linked protein glycosylation	An anomaly of the addition of sialic acids to O-linked glycans.
HP:0012363	Decreased sialylation of O-linked protein glycosylation	An reduced addition of sialic acids to O-linked glycans.
HP:0012364	Decreased urinary potassium	A decreased concentration of potassium(1+) in the urine.
HP:0012365	Hypophosphaturia	An abnormally decreased phosphate concentration in the urine.
HP:0012366	Basilar invagination	Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).
HP:0012367	Extra fontanelles	Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.
HP:0012368	Flat face	Absence of concavity or convexity of the face when viewed in profile.
HP:0012370	Prominence of the zygomatic bone	Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.
HP:0012371	Hyperplasia of midface	Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face
HP:0012372	Abnormal eye morphology	A structural anomaly of the globe of the eye, or bulbus oculi.
HP:0012373	Abnormal eye physiology	A functional anomaly of the eye.
HP:0012375	Chemosis	Edema (swelling) of the bulbar conjunctiva.
HP:0012376	Microphakia	Abnormal smallness of the lens.
HP:0012377	Hemianopia	Partial or complete loss of vision in one half of the visual field of one or both eyes.
HP:0012378	Fatigue	A subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0012379	Abnormal circulating enzyme concentration or activity	Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.
HP:0012380	Reduced carnitine O-palmitoyltransferase level	Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.
HP:0012381	Delayed self-feeding during toddler years	A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).
HP:0012382	Left-to-right shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.
HP:0012383	Bidirectional shunt	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.
HP:0012384	Rhinitis	Inflammation of the nasal mucosa with nasal congestion.
HP:0012385	Camptodactyly	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
HP:0012386	Absent hallux	Aplasia of the hallux, that is, a development defect such that the big toe does not develop.
HP:0012387	Bronchitis	Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.
HP:0012388	Acute bronchitis	Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.
HP:0012389	Appendicular hypotonia	Muscular hypotonia of one or more limbs.
HP:0012390	Anal fissure	A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.
HP:0012391	Hyporeflexia of upper limbs	Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
HP:0012392	Jaw hyporeflexia	Reduced intensity of muscle tendon reflexes in jaw.
HP:0012393	Allergy	An allergy is an immune response or reaction to substances that are usually not harmful.
HP:0012394	Iodine contrast allergy	Allergy to iodine contrast media used in radiological studies.
HP:0012395	Seasonal allergy	An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.
HP:0012396	Biliary dyskinesia	A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.
HP:0012397	Aortic atherosclerotic lesion	The presence of atheromas or atherosclerotic plaques in the aorta.
HP:0012398	Peripheral edema	An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.
HP:0012399	Pressure ulcer	A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.
HP:0012400	Abnormal circulating aldolase concentration	An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
HP:0012401	Abnormal urine alpha-ketoglutarate concentration	A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.
HP:0012402	Increased urine alpha-ketoglutarate concentration	A greater than normal concentration of 2-oxoglutaric acid in the urine.
HP:0012403	Decreased urine alpha-ketoglutarate concentration	A lower than normal concentration of 2-oxoglutaric acid in the urine.
HP:0012404	Abnormal urine citrate concentration	A deviation from normal of the concentration of citrate(3-) in the urine.
HP:0012405	Hypocitraturia	A lower than normal concentration of citrate(3-) in the urine.
HP:0012406	Hypercitraturia	A greater than normal concentration of citrate(3-) in the urine.
HP:0012407	Scissor gait	A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.
HP:0012408	Medullary nephrocalcinosis	The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
HP:0012409	Cortical nephrocalcinosis	The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).
HP:0012410	Pure red cell aplasia	A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.
HP:0012411	Premature pubarche	The onset of growth of pubic hair at an earlier age than normal.
HP:0012412	Premature adrenarche	Onset of adrenarche at an earlier age than usual.
HP:0012413	Notched primary central incisor	The presence of a V-shaped indentation (notch) in the primary central incisor.
HP:0012414	Duodenal atrophy	Wasting or decrease in size of all or part of the duodenum.
HP:0012415	Abnormal blood gas level	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
HP:0012416	Hypercapnia	Abnormally elevated blood carbon dioxide (CO2) level.
HP:0012417	Hypocapnia	Abnormally reduced blood carbon dioxide (CO2) level.
HP:0012418	Hypoxemia	An abnormally low level of blood oxygen.
HP:0012419	Hyperoxemia	An abnormally high level of blood oxygen.
HP:0012420	Meconium stained amniotic fluid	Amniotic fluid containing the earliest stools of a mammalian infant.
HP:0012421	Congenital absence of foreskin	Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.
HP:0012422	Villous hypertrophy of choroid plexus	Overgrowth of the choroid plexus.
HP:0012423	Colonic inertia	The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.
HP:0012424	Chorioretinitis	An inflammation of the choroid and retina.
HP:0012425	Stercoral ulcer	An ulcer of the colon due to pressure and irritation from retained fecal masses.
HP:0012426	Optic disc drusen	Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
HP:0012427	Increased femoral anteversion	An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.
HP:0012428	Prominent calcaneus	Protruding heel bone, or calcaneus.
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	Absence or underdevelopment of the cerebral white matter.
HP:0012430	Cerebral white matter hypoplasia	Underdevelopment of the cerebral white matter.
HP:0012431	Episodic fatigue	Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0012432	Chronic fatigue	Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
HP:0012433	Abnormal social behavior	An abnormality of actions or reactions of a person taking place during interactions with others.
HP:0012434	Delayed social development	A failure to meet one or more age-related milestones of social behavior.
HP:0012435	Ventral shortening of foreskin	Reduction in length of the ventral (lower) skin of prepuce of penis.
HP:0012436	Nonocclusive coronary artery atherosclerosis	Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.
HP:0012437	Abnormal gallbladder morphology	A structural anomaly of the gallbladder.
HP:0012438	Abnormal gallbladder physiology	A functional anomaly of the gallbladder.
HP:0012439	Abnormal biliary tract physiology	A functional abnormality of the biliary tree.
HP:0012440	Abnormal biliary tract morphology	A structural abnormality of the biliary tree.
HP:0012441	Sphincter of Oddi dyskinesia	Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.
HP:0012442	Gallbladder dyskinesia	Reduced motility of the gallbladder with reduced emptying fraction.
HP:0012443	Abnormality of brain morphology	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
HP:0012444	Brain atrophy	Partial or complete wasting (loss) of brain tissue that was once present.
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.
HP:0012447	Abnormal myelination	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
HP:0012448	Delayed myelination	Delayed myelination.
HP:0012449	Sacroiliac joint synovitis	Inflammation of the synovial membrane of the sacroiliac joint.
HP:0012450	Chronic constipation	Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
HP:0012451	Acute constipation	Constipation of sudden onset and lasting for less than three months.
HP:0012452	Restless legs	A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).
HP:0012453	Bilateral wrist flexion contracture	A chronic loss of wrist joint motion on the right and left sides.
HP:0012454	Unilateral wrist flexion contracture	A chronic loss of wrist joint motion on one side only.
HP:0012456	Medial arterial calcification	Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.
HP:0012457	Medial calcification of medium-sized arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.
HP:0012458	Medial calcification of small arteries	Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.
HP:0012459	Hypnic headache	A headache disorder that occurs exclusively at night, waking the affected individual from sleep.
HP:0012460	Dysmorphic inferior cerebellar vermis	A structural anomaly of the inferior portion of the vermis of cerebellum.
HP:0012461	Bacteriuria	The presence of bacteria in the urine.
HP:0012462	Chin myoclonus	Involuntary and irregular twitches of the chin.
HP:0012463	Elevated transferrin saturation	An above normal level of saturation of serum transferrin with iron.
HP:0012464	Decreased transferrin saturation	A below normal level of saturation of serum transferrin with iron.
HP:0012465	Elevated hepatic iron concentration	An increased level of iron in liver tissues.
HP:0012466	Chronic respiratory acidosis	Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).
HP:0012467	Acute respiratory acidosis	Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).
HP:0012468	Chronic acidosis	Longstanding abnormal acid accumulation or depletion of base.
HP:0012469	Infantile spasms	Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
HP:0012470	Setting-sun eye phenomenon	An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.
HP:0012471	Thick vermilion border	Increased width of the skin of vermilion border region of upper lip.
HP:0012472	Eclabion	A turning outward of the lip or lips, that is, eversion of the lips.
HP:0012473	Tongue atrophy	Wasting of the tongue.
HP:0012474	Carotid artery occlusion	Complete obstruction of a carotid artery.
HP:0012475	Decreased circulating level of specific antibody	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.
HP:0012476	Decreased specific pneumococcal antibody level	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
HP:0012477	Vocal tremor	A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.
HP:0012478	Temporomandibular joint ankylosis	Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
HP:0012479	Temporomandibular joint crepitus	Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.
HP:0012480	Abnormal cerebral vein morphology	An anomaly of cerebral veins.
HP:0012481	Cerebral venous angioma	A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.
HP:0012482	Frontal venous angioma	A venous angioma of the frontal lobe of the brain.
HP:0012483	Abnormal alpha granules	Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.
HP:0012484	Abnormal dense granules	Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.
HP:0012485	Abnormal surface-connected open canalicular system	An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.
HP:0012486	Myelitis	Inflammation of the spinal cord.
HP:0012487	Cerebellopontine angle arachnoid cyst	An arachnoid cyst located at the margin of the cerebellum and pons.
HP:0012488	Intraventricular arachnoid cyst	An arachnoid cyst located within the ventricular system.
HP:0012489	Suprasellar arachnoid cyst	An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.
HP:0012490	Panniculitis	Inflammation of adipose tissue.
HP:0012491	Abnormal dense tubular system	An anomaly of the intracellular membrane complexes known as the dense tubular system.
HP:0012492	Cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of a cerebral artery.
HP:0012493	Middle cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.
HP:0012494	Anterior cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.
HP:0012495	Posterior cerebral artery stenosis	Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.
HP:0012496	Reduced maximal inspiratory pressure	A decrease in the maximum amount of negative pressure a person can generate during an inhalation.
HP:0012497	Reduced maximal expiratory pressure	A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.
HP:0012498	Nuchal cord	A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.
HP:0012499	Descending aortic dissection	A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
HP:0012500	Verrucous papule	A wartlike (with multiple small elevated projections) papule.
HP:0012501	Abnormal brainstem white matter morphology	An anomaly of the white matter of brainstem.
HP:0012502	Abnormality of the internal capsule	An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.
HP:0012503	Abnormality of the pituitary gland	An anomaly of the pituitary gland.
HP:0012504	Abnormal size of pituitary gland	A deviation from the normal size of the pituitary gland.
HP:0012505	Enlarged pituitary gland	An abnormally increased size of the pituitary gland.
HP:0012506	Small pituitary gland	An abnormally decreased size of the pituitary gland.
HP:0012507	Weakness of orbicularis oculi muscle	Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.
HP:0012508	Metamorphopsia	A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
HP:0012509	Reduced thyroxin-binding globulin	An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.
HP:0012510	Extra-axial cerebrospinal fluid accumulation	An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.
HP:0012511	Temporal optic disc pallor	A pale yellow discoloration of the temporal (lateral) portion of the optic disc.
HP:0012512	Diffuse optic disc pallor	A pale yellow discoloration of the entire optic disc.
HP:0012513	Upper limb pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.
HP:0012514	Lower limb pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
HP:0012515	Hip flexor weakness	Reduced ability to flex the femur, that is, to pull the knee upward.
HP:0012516	Tetralogy of Fallot with pulmonary atresia	An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.
HP:0012517	Reduced catalase level	An abnormally decreased amount of catalase level.
HP:0012518	Abnormal circle of Willis morphology	An anomaly of the circle of Willis, also known as the cerebral arterial circle.
HP:0012519	Hypoplastic posterior communicating artery	A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.
HP:0012520	Dilation of Virchow-Robin spaces	Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.
HP:0012521	Optic nerve aplasia	Congenital absence of the optic nerve.
HP:0012522	Spider hemangioma	A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.
HP:0012523	Oral aversion	Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).
HP:0012524	Abnormal platelet shape	A deviation from the normal discoid platelet shape.
HP:0012525	Abnormal alpha granule distribution	An anomalous location and arrangement of platelet alpha granules.
HP:0012526	Absence of alpha granules	A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.
HP:0012527	Abnormal alpha granule content	A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.
HP:0012528	Abnormal number of alpha granules	A deviation from the normal count of alpha granules per thrombocyte.
HP:0012529	Abnormal dense granule content	A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.
HP:0012530	Abnormal number of dense granules	A deviation from the normal count of dense granules per thrombocyte.
HP:0012531	Pain	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
HP:0012532	Chronic pain	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.
HP:0012533	Allodynia	Pain due to a stimulus that does not normally provoke pain.
HP:0012534	Dysesthesia	Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.
HP:0012535	Abnormal synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.
HP:0012536	Maternal anticardiolipin antibody positive	The presence of circulating autoantibodies to anticardiolipin in the mother.
HP:0012537	Food intolerance	A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.
HP:0012538	Gluten intolerance	A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.
HP:0012539	Non-Hodgkin lymphoma	A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.
HP:0012540	Axillary epidermoid cyst	An epidermoid cyst in the armpit.
HP:0012541	Cephalohematoma	Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.
HP:0012542	Onychauxis	Thickened nails without deformity.
HP:0012543	Hemosiderinuria	The presence of hemosiderin in the urine.
HP:0012544	Elevated circulating aldolase concentration	Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.
HP:0012545	Reduced circulating aldolase concentration	Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.
HP:0012546	Skewed maternal X inactivation	A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.
HP:0012547	Abnormal involuntary eye movements	Anomalous movements of the eyes that occur without the subject wanting them to happen.
HP:0012548	Fatty replacement of skeletal muscle	Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
HP:0012549	Conjunctival lipoma	A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.
HP:0012550	Colonic varices	The presence of varices (enlarged and convoluted blood vessels) in the colon.
HP:0012551	Absent neutrophil specific granules	Lack of specific granules in neutrophils.
HP:0012552	Increased neutrophil nuclear projections	Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.
HP:0012553	Hypoplastic thumbnail	A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.
HP:0012554	Absent thumbnail	Absence of thumb nail.
HP:0012555	Absent nail of hallux	Absent nail of big toe.
HP:0012556	Hyperbeta-alaninemia	Increased concentration of beta-alanine in the blood.
HP:0012557	EEG with centrotemporal focal spike waves	EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
HP:0012558	Abnormal T3/T4 ratio	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.
HP:0012559	Increased T3/T4 ratio	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.
HP:0012560	Decreased T3/T4 ratio	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.
HP:0012561	Unicuspid aortic valve	The presence of an aortic valve with one instead of the normal three cusps (flaps).
HP:0012562	Premature epimetaphyseal fusion in hand	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0012563	Premature epimetaphyseal fusion in foot	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0012564	Premature epimetaphyseal fusion in tibia	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0012565	Premature epimetaphyseal fusion in fibula	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0012566	Premature epimetaphyseal fusion in radius	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0012567	Premature epimetaphyseal fusion in ulna	Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
HP:0012568	Lower eyelid edema	Edema in the region of the Lower eyelid.
HP:0012569	Delayed menarche	First period after the age of 15 years.
HP:0012570	Synovial sarcoma	A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.
HP:0012571	Ureter fissus	A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.
HP:0012572	Ureter duplex	A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.
HP:0012573	Global proximal tubulopathy	A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.
HP:0012574	Mesangial hypercellularity	Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.
HP:0012575	Abnormal nephron morphology	A structural anomaly of the nephron.
HP:0012576	Glomerular C3 deposition	The presence of complement 3 deposits in the glomerulus.
HP:0012577	Thin glomerular basement membrane	Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.
HP:0012578	Membranous nephropathy	A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.
HP:0012579	Minimal change glomerulonephritis	The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.
HP:0012580	Calcium phosphate nephrolithiasis	The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.
HP:0012581	Simple renal cyst	An isolated cyst of the kidney.
HP:0012582	Bilateral renal dysplasia	A bilateral form of developmental dysplasia of the kidney.
HP:0012583	Unilateral renal hypoplasia	One sided hypoplasia of the kidney.
HP:0012584	Bilateral renal hypoplasia	Two sided hypoplasia of the kidney.
HP:0012585	Renal atrophy	Atrophy of the kidney.
HP:0012586	Bilateral renal atrophy	A two-sided form of atrophy of the kidney.
HP:0012587	Macroscopic hematuria	Hematuria that is visible upon inspection of the urine.
HP:0012588	Steroid-resistant nephrotic syndrome	A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.
HP:0012589	Multidrug-resistant nephrotic syndrome	A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.
HP:0012590	Abnormal urine output	An abnormal amount of urine production.
HP:0012591	Abnormal urinary electrolyte concentration	An abnormality in the concentration of electrolytes in the urine.
HP:0012592	Albuminuria	Increased concentration of albumin in the urine.
HP:0012593	Nephrotic range proteinuria	Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.
HP:0012594	Moderate albuminuria	The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).
HP:0012595	Mild proteinuria	Mildly increased levels of protein in the urine (150-500 mg per day in adults).
HP:0012596	Moderate proteinuria	Moderately increased levels of protein in the urine (500-1000 mg per day in adults).
HP:0012597	Heavy proteinuria	Severely increased levels of protein in the urine (1000-3000 mg per day in adults).
HP:0012598	Abnormal urine potassium concentration	An abnormal concentration of potassium(1+) in the urine.
HP:0012599	Abnormal urine phosphate concentration	An abnormal phosphate concentration in the urine.
HP:0012600	Abnormal urine chloride concentration	An abnormal concentration of chloride in the urine.
HP:0012601	Hypochloriduria	An decreased concentration of chloride in the urine.
HP:0012602	Renal chloride wasting	High urine chloride in the presence of hypochloridemia.
HP:0012603	Abnormal urine sodium concentration	An abnormal concentration of sodium in the urine.
HP:0012604	Hyponatriuria	An abnormally decreased sodium concentration in the urine.
HP:0012605	Hypernatriuria	An increased concentration of sodium(1+) in the urine.
HP:0012606	Renal sodium wasting	An abnormally increased sodium concentration in the urine in the presence of hyponatremia.
HP:0012607	Abnormal urine magnesium concentration	An abnormal concentration of magnesium the urine.
HP:0012608	Hypermagnesiuria	An increased concentration of magnesium the urine.
HP:0012609	Hypomagnesiuria	An decreased concentration of magnesium the urine.
HP:0012610	Abnormality of urinary uric acid level	Abnormal amount of urate in the urine.
HP:0012612	Abnormal urinary sulfate concentration	Abnormal concentration of sulfate in the urine.
HP:0012613	Increased urinary sulfate	Elevated concentration of SO4(2-), i.e., sulfate, in the urine.
HP:0012614	Abnormal urine cytology	An anomalous finding in the examination of the urine for cells.
HP:0012615	Cylindruria	The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.
HP:0012616	Leukocyte cylindruria	Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.
HP:0012617	Erythrocyte cylindruria	Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.
HP:0012618	Urachal cyst	A cyst located along the allantois canal.
HP:0012619	Multiple bladder diverticula	Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.
HP:0012620	Cloacal abnormality	A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.
HP:0012621	Persistent cloaca	Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.
HP:0012622	Chronic kidney disease	Functional anomaly of the kidney persisting for at least three months.
HP:0012623	Stage 1 chronic kidney disease	A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).
HP:0012624	Stage 2 chronic kidney disease	A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).
HP:0012625	Stage 3 chronic kidney disease	A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
HP:0012626	Stage 4 chronic kidney disease	A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).
HP:0012627	Pseudoexfoliation	Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.
HP:0012628	Abnormal suspensory ligament of lens morphology	An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.
HP:0012629	Phakodonesis	Tremulousness (trembling) of the lens of the eye.
HP:0012630	Abnormal trabecular meshwork morphology	An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.
HP:0012631	Pigment deposition in the trabecular meshwork	Accumulation of abnormal amounts of pigment within the trabecular meshwork.
HP:0012632	Abnormal intraocular pressure	An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.
HP:0012633	Asymmetry of intraocular pressure	A difference in the amount of intraocular pressure in the right and left eye.
HP:0012634	Iris pigment dispersion	Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.
HP:0012635	Iris hypoperfusion	Reduction in the amount of blood flow to the iris.
HP:0012636	Retinal vein occlusion	Blockage of the retinal vein.
HP:0012637	Renal calcium wasting	High urine calcium in the presence of hypocalcemia.
HP:0012638	Abnormal nervous system physiology	A functional anomaly of the nervous system.
HP:0012639	Abnormal nervous system morphology	A structural anomaly of the nervous system.
HP:0012640	Abnormality of intracranial pressure	A deviation from the norm of the intracranial pressure.
HP:0012641	Decreased intracranial pressure	A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
HP:0012642	Cerebellar agenesis	Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.
HP:0012643	Foveal hypopigmentation	Decreased amount of pigmentation in the fovea centralis.
HP:0012644	Increased caudate lactate level	An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.
HP:0012645	Enlarged peripheral nerve	Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.
HP:0012646	Retractile testis	A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.
HP:0012647	Abnormal inflammatory response	Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
HP:0012648	Decreased inflammatory response	An abnormal reduction in the inflammatory response to injury or infection.
HP:0012649	Increased inflammatory response	A abnormal increase in the inflammatory response to injury or infection.
HP:0012650	Perisylvian polymicrogyria	Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.
HP:0012651	Abasia	A severe form of gait ataxia such that an affected person cannot walk at all.
HP:0012652	Exercise-induced asthma	Asthma attacks following exercise.
HP:0012653	Status asthmaticus	Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.
HP:0012654	Abnormal CSF dopamine concentration	Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).
HP:0012655	Elevated CSF dopamine concentration	Increased concentration of dopamine in the cerebrospinal fluid (CSF).
HP:0012656	Reduced CSF dopamine concentration	Decreased concentration of dopamine in the cerebrospinal fluid (CSF).
HP:0012657	Abnormal brain positron emission tomography	A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.
HP:0012658	Abnormal brain FDG positron emission tomography	An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.
HP:0012659	Prefrontal hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.
HP:0012660	Thalamic hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.
HP:0012661	Hypothalamic hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.
HP:0012662	Parietal hypometabolism in FDG PET	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.
HP:0012663	Mildly reduced left ventricular ejection fraction	A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.
HP:0012664	Reduced left ventricular ejection fraction	A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
HP:0012665	Moderately reduced left ventricular ejection fraction	A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.
HP:0012666	Severely reduced left ventricular ejection fraction	A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.
HP:0012667	Regional left ventricular wall motion abnormality	An abnormal motion of a segment of the left ventricle during the cardiac cycle.
HP:0012668	Vasovagal syncope	
HP:0012669	Carotid sinus syncope	An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.
HP:0012670	Orthostatic syncope	Syncope following a quick change in position from lying down to standing.
HP:0012671	Abulia	Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.
HP:0012672	Akinetic mutism	Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.
HP:0012673	Aplasia of the upper vagina	A failure to develop of the upper vagina.
HP:0012674	Aplasia of the lower vagina	A failure to develop of the lower part of the vagina.
HP:0012675	Iron accumulation in brain	An abnormal build up of iron (Fe) in brain tissue.
HP:0012676	Copper accumulation in brain	An anomalous build up of copper (Cu) in the brain.
HP:0012678	Iron accumulation in substantia nigra	An anomalous build up of iron (Fe) in the substantia nigra.
HP:0012679	Widened interpedicular distance	An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
HP:0012680	Abnormality of the pineal gland	An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.
HP:0012681	Abnormal pineal morphology	A structural abnormality of the pineal gland.
HP:0012682	Pineal gland calcification	Accumulation of calcium salts in the pineal gland.
HP:0012683	Pineal cyst	A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.
HP:0012684	Abnormal pineal volume	An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.
HP:0012685	Decreased pineal volume	An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.
HP:0012686	Increased pineal volume	An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.
HP:0012687	Agenesis of pineal gland	Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.
HP:0012688	Abnormality of pineal physiology	A functional abnormality of the pineal gland.
HP:0012689	Abnormal pineal melatonin secretion	An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.
HP:0012690	T2 hypointense thalamus	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.
HP:0012691	Focal T2 hypointense thalamic lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.
HP:0012692	Focal T2 hyperintense thalamic lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.
HP:0012693	Abnormal thalamic size	Deviation from the normal range of size of the thalamus.
HP:0012694	Enlarged thalamic volume	An increase in the quantity of space occupied by the thalamus.
HP:0012695	Decreased thalamic volume	A reduction in the quantity of space occupied by the thalamus.
HP:0012696	Abnormal thalamic MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.
HP:0012697	Small basal ganglia	Decreased size of the basal ganglia.
HP:0012698	Cerebellar gliosis	Focal proliferation of glial cells in the cerebellum.
HP:0012699	Anomaly of lower limb diaphyses	A structural abnormality of a diaphysis of the leg.
HP:0012700	Abnormal large intestine physiology	A functional anomaly of the large intestine.
HP:0012701	Bowel urgency	A sudden, irresistible need to have a bowel movement.
HP:0012702	Tenesmus	A repeated, painful urge to defecate without excreting stool.
HP:0012703	Abnormal subarachnoid space morphology	Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.
HP:0012704	Widened subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater.
HP:0012705	Abnormal metabolic brain imaging by MRS	An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012706	Elevated brain choline level by MRS	An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012707	Elevated brain lactate level by MRS	An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012708	Reduced brain N-acetyl aspartate level by MRS	A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012709	Abnormal brain choline/creatine ratio by MRS	A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012710	Ingrown nail	Excessive growth of a nail laterally into the nail fold.
HP:0012711	Delayed ossification of vertebral epiphysis	A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.
HP:0012712	Mild hearing impairment	The presence of a mild form of hearing impairment.
HP:0012713	Moderate hearing impairment	The presence of a moderate form of hearing impairment.
HP:0012714	Severe hearing impairment	A severe form of hearing impairment.
HP:0012715	Profound hearing impairment	A profound (essentially complete) form of hearing impairment.
HP:0012716	Moderate conductive hearing impairment	The presence of a moderate form of conductive hearing impairment.
HP:0012717	Severe conductive hearing impairment	A severe form of conductive hearing impairment.
HP:0012718	Morphological abnormality of the gastrointestinal tract	Abnormal structure of the gastrointestinal tract.
HP:0012719	Functional abnormality of the gastrointestinal tract	Abnormal functionality of the gastrointestinal tract.
HP:0012720	Neoplasm of the nose	Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.
HP:0012721	Venous malformation	A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.
HP:0012722	Heart block	Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
HP:0012723	Sinoatrial block	Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.
HP:0012724	Upper eyelid edema	Edema in the region of the upper eyelid.
HP:0012725	Cutaneous syndactyly	A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
HP:0012726	Episodic hypokalemia	An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.
HP:0012727	Thoracic aortic aneurysm	An abnormal localized widening (dilatation) of the thoracic aorta.
HP:0012728	Fusiform descending thoracic aortic aneurysm	A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall
HP:0012729	Saccular descending thoracic aortic aneurysm	An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall
HP:0012730	Aglossia	Absence of the tongue owing to a developmental abnormality.
HP:0012731	Ectopic anterior pituitary gland	Abnormal anatomic location of the anterior pituitary gland.
HP:0012732	Anorectal anomaly	An abnormality of the anus or rectum.
HP:0012733	Macule	A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
HP:0012734	Ketotic hypoglycemia	Low blood glucose is accompanied by elevated levels of ketone bodies in the body.
HP:0012735	Cough	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
HP:0012736	Profound global developmental delay	A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0012737	Small intestinal polyp	A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.
HP:0012738	Agenesis of canine	Agenesis of canine tooth.
HP:0012739	Agenesis of the small intestine	Failure to develop of the small intestine.
HP:0012740	Papilloma	A tumor of the skin or mucous membrane with finger-like projections.
HP:0012741	Unilateral cryptorchidism	Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
HP:0012742	Thin fingernail	Fingernail that appears thin when viewed on end.
HP:0012743	Abdominal obesity	Excessive fat around the stomach and abdomen.
HP:0012744	Femoral aplasia	Failure of the femur to develop.
HP:0012745	Short palpebral fissure	Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
HP:0012746	Thin toenail	Toenail that appears thin when viewed on end.
HP:0012747	Abnormal brainstem MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.
HP:0012748	Focal T2 hyperintense brainstem lesion	A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.
HP:0012749	Focal T2 hypointense brainstem lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.
HP:0012750	T2 hypointense brainstem	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.
HP:0012751	Abnormal basal ganglia MRI signal intensity	A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.
HP:0012752	Focal T2 hypointense basal ganglia lesion	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.
HP:0012753	T2 hypointense basal ganglia	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.
HP:0012754	CNS hypermyelination	Increased amount of myelin in the central nervous system.
HP:0012755	Enlarged brainstem	Abnormal increase in size of the brainstem.
HP:0012756	CSF polymorphonuclear pleocytosis	An increased polymorphonuclear cell count in the cerebrospinal fluid.
HP:0012757	Abnormal neuron morphology	A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.
HP:0012758	Neurodevelopmental delay	Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
HP:0012759	Neurodevelopmental abnormality	A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
HP:0012760	Reduced social reciprocity	A reduced ability to participate in the back-and-forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.
HP:0012761	Absent mastoid	A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.
HP:0012762	Cerebral white matter atrophy	The presence of atrophy (wasting) of the cerebral white matter.
HP:0012763	Paroxysmal dyspnea	A sudden attack of dyspnea that occurs while the affected person is at rest.
HP:0012764	Orthopnea	A sensation of breathlessness in the recumbent position, relieved by sitting or standing.
HP:0012765	Widened cerebellar subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.
HP:0012766	Widened cerebral subarachnoid space	An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.
HP:0012767	Abnormal placental size	A deviation from normal size of the placenta.
HP:0012768	Neonatal asphyxia	Respiratory failure in the newborn.
HP:0012769	Abnormal arm span	A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)
HP:0012770	Reduced arm span	Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).
HP:0012771	Increased arm span	Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).
HP:0012772	Abnormal upper to lower segment ratio	A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
HP:0012773	Reduced upper to lower segment ratio	Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.
HP:0012774	Increased upper to lower segment ratio	Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
HP:0012775	Stellate iris	A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.
HP:0012776	Abnormal ciliary body morphology	A structural anomaly of the ciliary body.
HP:0012777	Retinal neoplasm	A tumor (abnormal growth of tissue) of the retina.
HP:0012778	Retinal astrocytic hamartoma	A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.
HP:0012779	Transient hearing impairment	Hearing loss that occurs acutely and resolves completely.
HP:0012780	Neoplasm of the ear	A tumor (abnormal growth of tissue) of the ear.
HP:0012781	Mid-frequency hearing loss	A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).
HP:0012782	Perilobar nephrogenic rest	A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.
HP:0012783	Intralobar nephrogenic rest	A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.
HP:0012784	Perinephritis	Inflammation of the connective and adipose tissues surrounding the kidney.
HP:0012785	Flexion contracture of finger	Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
HP:0012786	Recurrent cystitis	Repeated infections of the urinary bladder.
HP:0012787	Recurrent pyelonephritis	Repeated episodes of pyelonephritis.
HP:0012788	Reticulate pigmentation of oral mucosa	A net-like pattern of increased pigmentation of the oral cavity.
HP:0012789	Hypoplasia of the calcaneus	Underdevelopment of the heel bone.
HP:0012790	Abnormal intramembranous ossification	An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.
HP:0012791	Abnormal humeral ossification	An anomaly of the process of formation of bone in the humerus.
HP:0012792	Absent ossification of thoracic vertebral bodies	A lack of bone mineralization of one or more body of thoracic vertebra.
HP:0012793	Kinked brainstem	A kinked appearance of the brainstem, i.e., an exaggerated flexure.
HP:0012794	Periventricular white matter hypodensities	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
HP:0012795	Abnormal optic disc morphology	A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
HP:0012796	Increased cup-to-disc ratio	An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.
HP:0012797	Lymphatic vessel neoplasm	A benign or malignant neoplasm arising from the lymphatic vessels.
HP:0012798	Pulmonary lymphangiomyomatosis	Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.
HP:0012799	Unilateral facial palsy	One-sided weakness of the muscles of facial expression and eye closure.
HP:0012800	Accessory cranial suture	A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.
HP:0012801	Narrow jaw	Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).
HP:0012802	Broad jaw	Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).
HP:0012803	Anisometropia	Inequality of refractive power of the two eyes.
HP:0012804	Corneal ulceration	Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
HP:0012805	Iris transillumination defect	Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
HP:0012806	Proboscis	A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.
HP:0012807	High insertion of columella	Insertion of the posterior columella superior to the nasal base.
HP:0012808	Abnormal nasal base norphology	An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.
HP:0012809	Narrow nasal base	Decreased distance between the attachments of the alae nasi to the face.
HP:0012810	Wide nasal base	Increased distance between the attachments of the alae nasi to the face.
HP:0012811	Wide nasal ridge	Increased width of the nasal ridge.
HP:0012812	Fullness of paranasal tissue	Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.
HP:0012813	Unilateral breast hypoplasia	Underdevelopment of the breast on one side only.
HP:0012814	Bilateral breast hypoplasia	Underdevelopment of the breast on both sides.
HP:0012815	Hypoplastic female external genitalia	Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).
HP:0012816	Right ventricular noncompaction cardiomyopathy	A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.
HP:0012817	Noncompaction cardiomyopathy	A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.
HP:0012818	Biventricular noncompaction cardiomyopathy	Noncompaction cardiomyopathy that affects both ventricles.
HP:0012819	Myocarditis	Inflammation of the myocardium.
HP:0012820	Bilateral vocal cord paralysis	A loss of the ability to move the vocal fold on both sides.
HP:0012821	Unilateral vocal cord paresis	Decreased strength of the vocal fold on one side.
HP:0012822	Bilateral vocal cord paresis	Decreased strength of the vocal fold on both sides.
HP:0012823	Clinical modifier	This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.
HP:0012824	Severity	The intensity or degree of a manifestation.
HP:0012825	Mild	Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.
HP:0012826	Moderate	Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.
HP:0012827	Borderline	Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.
HP:0012828	Severe	Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.
HP:0012829	Profound	Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.
HP:0012830	Position	The anatomical localization of the specified phenotypic abnormality.
HP:0012831	Laterality	The localization with respect to the side of the body of the specified phenotypic abnormality.
HP:0012832	Bilateral	Being present on both sides of the body.
HP:0012833	Unilateral	Being present on only the left or only the right side of the body.
HP:0012834	Right	Being located on the right side of the body.
HP:0012835	Left	Being located on the left side of the body.
HP:0012836	Spatial pattern	The pattern by which a phenotype affects one or more regions of the body.
HP:0012837	Generalized	Affecting all regions without specificity of distribution.
HP:0012838	Localized	Being confined or restricted to a particular location.
HP:0012839	Distal	Localized away from the central point of the body.
HP:0012840	Proximal	Localized close to the central point of the body.
HP:0012841	Retinal vascular tortuosity	The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0012842	Skin appendage neoplasm	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.
HP:0012843	Hair follicle neoplasm	An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.
HP:0012844	Trichilemmoma	A benign tumor originating from the outer root sheath of the hair follicle.
HP:0012845	Single trichilemmoma	Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.
HP:0012846	Multiple trichilemmomata	Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.
HP:0012847	Epilepsia partialis continua	Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).
HP:0012848	Small intestinal stenosis	The narrowing or partial blockage of a portion of the small intestine.
HP:0012849	Small intestinal bleeding	Bleeding from the small intestine.
HP:0012850	Small intestinal dysmotility	Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
HP:0012851	Colonic stenosis	A narrowing of a segment of colon whereby bowel continuity is maintained.
HP:0012852	Hepatic bridging fibrosis	Hepatic fibrosis that reaches from a portal area to another portal area.
HP:0012853	Scrotal hypospadias	Hypospadias with location of the urethral meatus in the scrotum.
HP:0012854	Midshaft hypospadias	Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.
HP:0012855	Scrotal hyperpigmentation	Increased pigmentation (skin color) of the scrotum.
HP:0012856	Abnormal scrotal rugation	Anomaly of the folded ridges (wrinkles) of skin of the scrotum.
HP:0012857	Increased scrotal rugation	Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.
HP:0012858	Decreased scrotal rugation	Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.
HP:0012859	Esophageal leukoplakia	A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.
HP:0012860	Testicular fibrosis	Formation of excess connective tissue in the testicle.
HP:0012861	Ovotestis	A gonad that contains both ovarian follicles and testicular tubular elements.
HP:0012862	Abnormal germ cell morphology	Any structural anomaly of a reproductive cell.
HP:0012863	Abnormal male germ cell morphology	A structural anomaly of a male reproductive cell.
HP:0012864	Abnormal sperm morphology	A structural anomaly of sperm.
HP:0012865	Abnormal sperm head morphology	A structural abnormality of the sperm head.
HP:0012866	Abnormal sperm neck morphology	A structural abnormality of the sperm neck.
HP:0012867	Abnormal sperm mid-piece morphology	A structural abnormality of the sperm mid-piece.
HP:0012868	Abnormal sperm tail morphology	A structural abnormality of the sperm tail.
HP:0012869	Acephalic spermatozoa	Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.
HP:0012870	Vanishing testis	A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.
HP:0012871	Varicocele	A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.
HP:0012872	Abnormal vas deferens morphology	A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.
HP:0012873	Absent vas deferens	Aplasia (congenital absence) of the vas deferens.
HP:0012874	Abnormal male reproductive system physiology	An abnormal functionality of the male genital system.
HP:0012875	Abnormal ejaculation	Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.
HP:0012876	Premature ejaculation	The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.
HP:0012877	Retrograde ejaculation	The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.
HP:0012878	Retarded ejaculation	Difficulty of a male in achieving orgasm.
HP:0012879	Anejaculation	Inability to ejaculate.
HP:0012880	Abnormal labia minora morphology	An anomaly of the labia minora, the folds of skin between the outer labia.
HP:0012881	Abnormal labia majora morphology	An anomaly of the outer labia.
HP:0012882	Hyperplastic labia majora	Overgrowth of the outer labia.
HP:0012883	Fallopian tube cyst	A fluid filled sac located in the Fallopian tube.
HP:0012884	Fallopian tube torsion	A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.
HP:0012885	Fallopian tube duplication	The presence of a supernumerary Fallopian tube.
HP:0012886	Hemorrhagic ovarian cyst	An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.
HP:0012887	Ovarian serous cystadenoma	A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.
HP:0012888	Abnormal uterine cervix morphology	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.
HP:0012889	Cervical endometriosis	Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.
HP:0012890	Posteriorly placed anus	Posterior malposition of the anus.
HP:0012891	High posterior hairline	Hair on the neck extends less inferiorly than usual.
HP:0012892	Facial muscle hypertrophy	Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0012893	Neck muscle hypertrophy	Muscle hypertrophy affecting the muscles of the neck.
HP:0012894	Paraspinal muscle hypertrophy	Muscle hypertrophy affecting the paraspinal muscles.
HP:0012895	Scapular muscle hypertrophy	Muscle hypertrophy affecting the scapular muscles.
HP:0012896	Abnormal motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.
HP:0012897	Abnormal upper-limb motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs) in the arm.
HP:0012898	Abnormal lower-limb motor evoked potentials	An anomaly identified by motor evoked potentials (MEPs) in the leg.
HP:0012899	Handgrip myotonia	Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
HP:0012900	Myotonia of the face	Slowed relaxation of muscles in the face.
HP:0012901	Myotonia of the jaw	Slowed relaxation of muscles in the jaw.
HP:0012902	Myotonia of the lower limb	Slowed relaxation of muscles in the leg.
HP:0012903	Myotonia of the upper limb	Slowed relaxation of muscles in the arm.
HP:0012904	Cold-sensitive myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.
HP:0012905	Euryblepharon	Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.
HP:0020006	Ciliary body coloboma	A coloboma of the ciliary body.
HP:0020034	Diffuse	A spatial pattern that is spread out, i.e., not localized.
HP:0020035	Lower limb dysmetria	A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.
HP:0020036	Upper limb dysmetria	A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.
HP:0020037	Astasia	A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.
HP:0020038	Vertebrobasilar dolichoectasia	Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.
HP:0020041	Double elevator palsy	A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.
HP:0020042	Double depressor palsy	An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.
HP:0020043	Vertical incomitant strabismus	A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.
HP:0020044	Horizontal incomitant strabismus	
HP:0020045	Esodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
HP:0020046	Accommodative esotropia	A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.
HP:0020047	Abnormal myeloid cell morphology	Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.
HP:0020048	Reduced bone-marrow pro-B cell count	A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.
HP:0020049	Exodeviation	A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.
HP:0020050	Anti-granulocyte-macrophage colony stimulating factor antibody positivity	The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.
HP:0020054	Abnormal erythrocyte physiology	Any functional abnormality of erythrocytes (red-blood cells).
HP:0020058	Abnormal red blood cell count	Any deviation from the normal number of red blood cells per volume in the circulation.
HP:0020059	Increased red blood cell count	An abnormal elevation above the normal number of red blood cells per volume in the circulation.
HP:0020060	Decreased red blood cell count	An abnormal reduction below the normal number of red blood cells per volume in the circulation.
HP:0020061	Abnormal hemoglobin concentration	Any deviation from the normal concentration of hemoglobin in the blood.
HP:0020062	Decreased hemoglobin concentration	An abnormal reduction below normal hemoglobin concentration in the circulation.
HP:0020063	Increased hemoglobin concentration	An abnormal elevation above normal hemoglobin concentration in the circulation.
HP:0020064	Abnormal eosinophil count	Any deviation from the normal number of eosinophils per volume in the blood circulation.
HP:0020071	Viremia	The presence of virus in the blood.
HP:0020072	Persistent EBV viremia	Persistent presence of Epstein-Barr virus in the blood.
HP:0020073	Hypopigmented macule	A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.
HP:0020074	Crystalluria	The presence of crystals in the urine.
HP:0020075	Leucine crystalluria	The presence of leucine crystals in the urine.
HP:0020076	Wrist ganglion	A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.
HP:0020077	Carnitinuria	An elevated level of carnitine in the urine.
HP:0020078	Alaninuria	An increased level of alanine in the urine.
HP:0020079	Beta-alaninuria	An increased level of beta-alanine in the urine.
HP:0020080	Erythrocyte inclusion bodies	Nuclear or cytoplasmic aggregates of substances in red blood cells.
HP:0020081	Pappenheimer bodies	A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).
HP:0020082	Heinz bodies	A type of erythrocyte inclusion composed of denatured hemoglobin.
HP:0020083	Furuncle	An infection of a hair follicle that extends subcutaneously, forming an abscess.
HP:0020084	Carbuncle	A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle.
HP:0020085	Infection following live vaccination	An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.
HP:0020086	BCGitis	Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
HP:0020087	BCGosis	Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.
HP:0020088	Post-vaccination measles	Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.
HP:0020089	Post-vaccination rubella	Infection with the rubella virus of the live-attenuated vaccine.
HP:0020090	Post-vaccination polio	Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.
HP:0020091	Post-vaccination rotavirus infection	Infection with live attenuated rotavirus vaccine following vaccination.
HP:0020093	Recurrent deep organ abscess formation	Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.
HP:0020095	Prolonged need of intravenous antibiotic therapy	Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.
HP:0020096	Recurrent streptococcal infections	Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.
HP:0020097	Infection due to encapsulated bacteria	An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.
HP:0020099	Severe norovirus infection	An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.
HP:0020100	Unusual fungal infection	An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.
HP:0020101	Invasive fungal infection	Fungal infection characterized by invasion of host tissues.
HP:0020102	Pneumocystis jirovecii pneumonia	An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.
HP:0020103	Invasive pulmonary aspergillosis	Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.
HP:0020104	Unusual protozoan infection	An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.
HP:0020105	Severe toxoplasmosis	Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).
HP:0020106	Severe giardiasis	An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.
HP:0020107	Unusual helminthic infection	An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).
HP:0020108	Unusual parasitic infection	An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.
HP:0020110	Bone fracture	A partial or complete breakage of the continuity of a bone.
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.
HP:0020112	Increased proportion of CD4+CD25+ regulatory T cells	An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.
HP:0020113	Decreased proportion of CD4+CD25+ regulatory T cells	An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.
HP:0020114	Persistent human papillomavirus infection	Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.
HP:0020117	Hypoplastic dermoepidermal hemidesmosomes	Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.
HP:0020118	Radial artery aplasia	Congenital absence of the radial artery.
HP:0020119	Abnormal retinal nerve fiber layer morphology	A structural abnormality of the retinal nerve fiber layer
HP:0020120	Retinal nerve fiber edema	Swelling (edema) of the retinal nerve fibers.
HP:0020121	Conception by assisted reproductive technology	A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.
HP:0020122	Bite cells	Red blood cells that appear to have parts of them bitten away.
HP:0020123	Tympanosclerosis	A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.
HP:0020125	Spontaneous conjunctival filtering bleb	Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.
HP:0020126	Prostate mass	A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.
HP:0020127	Periarticular soft-tissue mass	A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.
HP:0020128	Aplasia of the olfactory tract	Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.
HP:0020129	Abnormal urine protein level	Any deviation of the concentration of one or more proteins in the urine.
HP:0020130	Increased urinary neutrophil gelatinase-associated lipocalin	An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).
HP:0020131	Abnormal tubular basement membrane morphology	Abnormal structure of the basement membrane of the renal tubulus.
HP:0020132	Thickening of the tubular basement membrane	Increase in thickness of the basement membrane of the tubulus of the kidney.
HP:0020133	Podocyte hypertrophy	Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.
HP:0020134	Increased urine neutrophil count	Abnormally increased count of neutrophils in urine.
HP:0020135	Myofibromatosis	A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.
HP:0020136	Anticardiolipin IgG antibody positivity	The presence of circulating IgG autoantibodies to cardiolipin.
HP:0020137	Anticardiolipin IgM antibody positivity	The presence of circulating IgM autoantibodies to cardiolipin.
HP:0020138	History of recent animal bite	Medical history of a recent bite injury due to an animal.
HP:0020139	History of recent insect bite	Medical history of a recent bite injury due to an insect.
HP:0020140	History of recent tick bite	Medical history of a recent bite injury due to a tick.
HP:0020141	Blood pressure substantially higher in legs than arms	An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.
HP:0020142	Blood pressure substantially higher in arms than legs	An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.
HP:0020143	Tracheal duplication cyst	A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.
HP:0020144	Calcium phosphate crystalluria	The presence of calcium phosphate crystals in the urine.
HP:0020145	Calcium oxalate crystalluria	The presence of calcium oxalate crystals in the urine.
HP:0020146	Calcium carbonate crystalluria	The presence of calcium carbonate crystals in the urine.
HP:0020147	2-Methylbutyryl glycinuria	Increased concentration of 2-methylbutyryl glycine in the urine.
HP:0020148	Increased circulating mead acid level	An abnormally elevated concentration od mead acid in the blood circulation.
HP:0020149	Elevated circulating succinate	An increase concentration of succinate in the blood circulation.
HP:0020150	Elevated urinary uromodulin	An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.
HP:0020151	Anti-dsDNA antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.
HP:0020152	Distal joint laxity	Lack of stability of a distal joint (e.g., finger).
HP:0020153	Positive blood 1,3 beta glucan test	Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.
HP:0020154	Nevus comedonicus	A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.
HP:0020155	Abnormal oocyte morphology	An abnormal structure of the female germ cell (egg cell).
HP:0020156	Abnormal zona pellucida morphology	Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.
HP:0020157	Thin zona pellucida	Reduced thickness of the zona pellucida.
HP:0020158	Increased circulating adrenic acid concentration	An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.
HP:0020159	Reduced response to gonadotropin-releasing hormone stimulation test	Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.
HP:0020160	GM1-ganglioside accumulation	Cellular accumulation of GM1 gangliosides.
HP:0020161	Branch retinal artery occlusion	Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.
HP:0020163	Cilioretinal artery occlusion	Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.
HP:0020164	Ophthalmic artery occlusion	A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.
HP:0020165	Branch retinal vein occlusion	Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.
HP:0020166	Central retinal vein occlusion	Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.
HP:0020167	Hemiretinal vein occlusion	A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.
HP:0020169	Abnormal drug response	An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.
HP:0020170	Increased blood drug concentration	High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.
HP:0020171	Decreased blood drug concentration	Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.
HP:0020172	Adverse drug response	An unpleasant or harmful reaction resulting from treatment with a drug.
HP:0020173	Reduced drug efficacy	Decreased response to a drug intervention in comparison to the expected response.
HP:0020174	Refractory drug response	Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.
HP:0020175	Reduced cholinesterase level	A decreased amount of cholinesterase in the blood circulation.
HP:0020176	Cholesterol crystalluria	The presence of cholesterol crystals in the urine.
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
HP:0020178	Abnormal dendritic cell count	A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).
HP:0020179	Abnormal circulating haptoglobin concentration	A deviation from the normal concentration of haptoglobin in the blood circulation.
HP:0020180	Elevated haptoglobin level	An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.
HP:0020181	Reduced haptoglobin level	An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.
HP:0020182	Abnormal circulating A-type atrial natriuretic peptide concentration	A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.
HP:0020183	Increased circulating A-type natriuretic peptide concentration	A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.
HP:0020184	Decreased circulating A-type natriuretic peptide concentration	A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.
HP:0020185	Superior cerebellar dysplasia	Abnormal morphological development of the superior part of the cerebellum.
HP:0020186	Multilobulated spleen	The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.
HP:0020187	Thick pachygyria	Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.
HP:0020188	Anterior predominant pachygyria with 5-10 mm cortical thickness	Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.
HP:0020189	Posterior predominant thick cortex pachygyria	Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.
HP:0020190	Perisylvian predominant thick cortex pachygyria	Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.
HP:0020191	Anterior predominant thick cortex pachygyria	Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.
HP:0020192	Pachygyria with 5-10 mm cortical thickness	Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.
HP:0020193	Prolonged reptilase time	An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.
HP:0020194	IgA heavy chain paraproteinemia	An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
HP:0020195	IgG heavy chain paraproteinemia	An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
HP:0020196	IgM heavy chain paraproteinemia	An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
HP:0020197	Increased circulating arachidonic acid concentration	An increased circulation of arachidonic acid in the blood circulation.
HP:0020198	Abnormal circulating 18-hydroxycorticosterone level	Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.
HP:0020199	Decreased circulating 18-hydroxycortisone level	A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.
HP:0020200	Increased circulating 18-hydroxycortisone level	An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.
HP:0020201	Abnormal sarcomere morphology	Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs.
HP:0020202	Abnormal Z disc morphology	Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.
HP:0020203	Z-band streaming	Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.
HP:0020204	Tubulointerstitial bacterial infiltration	Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.
HP:0020205	Tubulointerstitial fungal infiltration	Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.
HP:0020206	Simple ear	The pinna has fewer folds and grooves than usual.
HP:0020207	Reflex seizure	Seizures precipitated by exogenous stimuli.
HP:0020208	Eating-induced seizure	A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.
HP:0020209	Hot water-induced seizure	A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.
HP:0020210	Praxis-induced seizure	A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.
HP:0020211	Proprioceptive-induced seizure	A seizure precipitated by movement or a change in posture.
HP:0020212	Reading-induced seizure	A seizure precipitated by reading.
HP:0020213	Somatosensory-induced seizure	A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.
HP:0020214	Startle-induced seizure	Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.
HP:0020215	Thinking-induced seizure	Seizures induced by thinking and decision-making.
HP:0020216	Visually-induced seizure	Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.
HP:0020217	Focal aware motor seizure	A type of focal motor seizure in which awareness is retained throughout the seizure.
HP:0020218	Focal aware atonic seizure	A type of focal atonic seizure during which awareness is fully retained throughout.
HP:0020219	Motor seizure	A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
HP:0020220	Focal atonic seizure	A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.
HP:0020221	Clonic seizure	A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
HP:0020222	Hypohomocysteinemia	A decreased concentration of homocystine in the blood.
HP:0020223	Dermal sinus tract	A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.
HP:0025004	Hallux rigidus	Osteoarthritis of the metatarsophalangeal joint of the first toe.
HP:0025005	Thickening of glomerular capillary wall	Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.
HP:0025006	Abnormal glomerular capillary morphology	A structural anomaly of the capillary blood vessels in the renal glomerulus.
HP:0025007	Ectopic fovea	An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.
HP:0025008	Tracheal tug on inspiration	Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.
HP:0025009	Forward slanting upper incisors	The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.
HP:0025010	Foveal atrophy	Partial or complete loss of foveal tissue that was once present.
HP:0025011	Pyriform aperture stenosis	Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.
HP:0025012	Status cribrosum	Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.
HP:0025013	Decerebrate rigidity	A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.
HP:0025014	Subcutaneous spheroids	Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.
HP:0025015	Abnormal vascular morphology	
HP:0025016	Abnormal capillary morphology	A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.
HP:0025017	Capillary fragility	Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).
HP:0025018	Abnormal capillary physiology	A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.
HP:0025019	Arterial rupture	Sudden breakage of an artery leading to leakage of blood from the circulation.
HP:0025020	Elevated prostate-specific antigen level	An increased concentration of prostate specific antigen (PSA) in the circulation.
HP:0025021	Abnormal erythrocyte sedimentation rate	A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.
HP:0025022	Decreased erythrocyte sedimentation rate	A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.
HP:0025023	Rectal atresia	A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.
HP:0025024	Megarectum	An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.
HP:0025025	Rectovestibular fistula	A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.
HP:0025026	H-type rectovestibular fistula	Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.
HP:0025027	Osteoma cutis	The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.
HP:0025028	Abnormality of enteric nervous system morphology	A structural anomaly of nerves of the enteric nervous system.
HP:0025029	Abnormality of enteric neuron morphology	
HP:0025030	Enteric neuronal degeneration	Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.
HP:0025031	Abnormality of the digestive system	
HP:0025032	Abnormality of digestive system physiology	A functional anomaly of the digestive system.
HP:0025033	Abnormality of digestive system morphology	A structural anomaly of the digestive system.
HP:0025034	Abnormal morphology of erythroid progenitor cell	Abnormal form of the progenitor cells committed to the erythroid lineage.
HP:0025035	Abnormal proerythroblast morphology	Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.
HP:0025037	Hypothalamic gliosis	Focal proliferation of glial cells in the hypothalamus.
HP:0025038	Intratesticular abscess	A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.
HP:0025039	Basal ganglia edema	Swelling within the basal ganglia due to the accumulation of fluid.
HP:0025040	Thalamic edema	Swelling within the thalamus due to the accumulation of fluid.
HP:0025041	Thalamic calcification	Calcium deposition in the thalamus.
HP:0025042	Abnormality of mesenteric lymph nodes	A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.
HP:0025043	Enlarged mesenteric lymph node	Increase in size of one or more mesenteric lymph nodes.
HP:0025044	Lung abscess	A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.
HP:0025045	Abnormal brain lactate level by MRS	A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025046	Reduced brain lactate level by MRS	A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025047	Abnormal brain choline level by MRS	A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025048	Reduced brain choline level by MRS	An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025049	Abnormal brain creatine level by MRS	
HP:0025050	Elevated brain creatine level by MRS	An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025051	Reduced brain creatine level by MRS	A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025052	Abnormal brain N-acetyl aspartate level by MRS	A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025053	Elevated brain N-acetyl aspartate level by MRS	An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025057	Abnormality of olfactory lobe morphology	A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.
HP:0025058	Hypothalamic atrophy	Partial or complete wasting (loss) of hypothalamus tissue that was once present.
HP:0025059	Splenic abscess	A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.
HP:0025060	Multifocal splenic abscess	Multiple abscess lesions in the spleen.
HP:0025061	Unifocal splenic abscess	Single (solitary) abscess in the spleen.
HP:0025062	Geophagia	The practice of eating earth or soil-like substrates such as clay or chalk.
HP:0025063	Scaphoid abdomen	The anterior abdominal wall is sunken and presents a concave rather than a convex contour.
HP:0025064	Thalamic hemorrhage	Bleeding in the thalamus.
HP:0025065	Abnormal mean corpuscular volume	A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.
HP:0025066	Decreased mean corpuscular volume	A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
HP:0025068	Incomitant strabismus	Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.
HP:0025069	Concomitant strabismus	Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.
HP:0025070	Abnormal U wave	An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.
HP:0025071	U wave inversion	Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.
HP:0025072	Prominent U wave	Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.
HP:0025073	Exercise-induced U wave inversion	U wave inversion that is induced by exercise stress testing.
HP:0025074	Abnormal QRS complex	An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.
HP:0025075	Increased QRS voltage	Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).
HP:0025076	Abnormal QRS voltage	Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).
HP:0025077	Decreased QRS voltage	Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.
HP:0025078	Electrical alternans	The QRS complexes of the electrocardiogram alternate in height.
HP:0025079	Pancreatic abscess	A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.
HP:0025080	Orthokeratotic hyperkeratosis	A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.
HP:0025081	Darier's sign	A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.
HP:0025082	Abnormal cutaneous elastic fiber morphology	Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.
HP:0025083	Elevated dermal desmosine content	An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.
HP:0025084	Folliculitis	Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.
HP:0025085	Bloody diarrhea	Passage of many stools containing blood.
HP:0025086	Bloody mucoid diarrhea	Passage of many stools containing blood and mucus.
HP:0025087	Delayed recoil upon stretching of skin	Area of skin requiring an increased amount of time to return to its original shape after being stretched.
HP:0025088	Onychomadesis	Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.
HP:0025089	Feculent vomiting	Vomiting of material that is of fecal origin.
HP:0025090	Abnormal large intestinal mucosa morphology	A structural anomaly of the mucous lining of the large intestine.
HP:0025092	Epidermal acanthosis	Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
HP:0025093	Peripapillary exudate	A retinal exudate in the area surrounding the optic nerve head.
HP:0025094	Disciform macular scar	A subretinal scar with a disc-like shape in the region of the macula.
HP:0025095	Sneeze	A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.
HP:0025096	Paroxysmal sneezing	Unprovoked explosive pathological sneezing.
HP:0025097	Eyelid myoclonus	Marked, involuntary jerking of the eyelids.
HP:0025098	Dysgenesis of the hypothalamus	Structural abnormality of the hypothalamus related to defective development.
HP:0025099	Dysgenesis of the thalamus	Structural abnormality of the thalamus related to defective development.
HP:0025100	Abnormal hippocampus morphology	Any structural anomaly of the hippocampus,
HP:0025101	Dysgenesis of the hippocampus	Structural abnormality of the hippocampus related to defective development.
HP:0025102	Dysgenesis of the basal ganglia	Structural abnormality of the basal ganglia related to defective development.
HP:0025103	Umbilicated nodule	A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).
HP:0025104	Capillary malformation	A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).
HP:0025105	Nevus anemicus	A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots.
HP:0025106	Nevus roseus	A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.
HP:0025107	Cutis marmorata telangiectatica congenita	A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.
HP:0025108	Angioma serpentinum	Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.
HP:0025109	Reduced red cell pyruvate kinase level	Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.
HP:0025110	Placoid macular lesion	Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.
HP:0025112	Auditory sensitivity	Decreased tolerance to sound.
HP:0025113	Misophonia	An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.
HP:0025114	Hypergranulosis	Hypergranulosis is an increased thickness of the stratum granulosum.
HP:0025115	Civatte bodies	Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant
HP:0025116	Fetal distress	An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
HP:0025117	Rete ridge flattening	Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.
HP:0025118	Lip discoloration	Lightening or darkening of the lips from their usual coloring.
HP:0025119	Violet lip discoloration	An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.
HP:0025122	Sawtooth acanthosis	A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.
HP:0025123	White streaks/specks on enamel.	Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.
HP:0025124	Fragile teeth	A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.
HP:0025125	White lesion of the oral mucosa	White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.
HP:0025126	Oral hairy leukoplakia	A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.
HP:0025127	Actinic keratosis	A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.
HP:0025128	Reduced intraabdominal adipose tissue	An abnormally reduced amount of adipose tissue in the abdominal cavity.
HP:0025129	Abnormal small intestinal mucosa morphology	A structural anomaly of the mucous lining of the small intestine.
HP:0025130	Decreased small intestinal mucosa lactase level	Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.
HP:0025131	Finger swelling	Enlargement of the soft tissues of one or more fingers.
HP:0025132	Abnormal circulating estrogen level	A deviation from normal concentration of the hormone estrogen in the blood circulation.
HP:0025133	Abnormal serum estradiol	A deviation from normal concentrations of estradiol in the circulation.
HP:0025134	Increased serum estradiol	An elevation above normal limits of the concentration of estradiol in the circulation.
HP:0025135	Abnormal serum estriol	A deviation from normal concentration of estriol in the circulation.
HP:0025136	Increased serum estriol	An elevation above normal limits of estriol concentration in the circulation.
HP:0025137	Decreased serum estriol	A reduction below normal limits of estriol in the circulation.
HP:0025138	Abnormal serum estrone	A deviation from the normal concentration of circulating estrone.
HP:0025139	Increased serum estrone	An elevation above normal limits of the concentration of estrone in the circulation.
HP:0025140	Decreased serum estrone	A reduction below normal limits of the concentration of estrone in the circulation.
HP:0025141	Gingival calcification	Ectopic deposition of calcium salts found in the gingiva.
HP:0025142	Constitutional symptom	A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
HP:0025143	Chills	A sudden sensation of feeling cold.
HP:0025144	Shivering	Involuntary contraction or twitching of the muscles.
HP:0025145	Rigors	Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.
HP:0025146	Foveal degeneration	Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.
HP:0025147	Beaten bronze macular sheen	A shiny appearance of the macula, which is often called a beaten bronze appearance.
HP:0025148	Dark choroid	A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).
HP:0025149	Atrophic muscularis propria	Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.
HP:0025150	Hypoganglionosis	Sparse and small myenteric ganglia
HP:0025151	Ganglioneuromatosis	Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.
HP:0025152	Poor visual behavior for age	Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.
HP:0025153	Transient	Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.
HP:0025154	Portosystemic collateral veins	Presence of biliary veins that serve as a collateral channel to the systemic circulation
HP:0025155	Abnormality of hepatobiliary system physiology	A functional anomaly of the hepatobiliary system
HP:0025156	Dependency on intravenous nutrition	Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.
HP:0025157	Increased urinary sedoheptulose	An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.
HP:0025158	Hyperautofluorescent retinal lesion	Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
HP:0025159	Hypoautofluorescent retinal lesion	Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
HP:0025160	Abnormal temper tantrums	A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual.
HP:0025161	Frequent temper tantrums	Temper tantrums that occur more frequently than usual.
HP:0025162	Severe temper tantrums	Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes.
HP:0025163	Abnormality of optic chiasm morphology	A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.
HP:0025164	Increased number of elastic fibers in the dermis	An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.
HP:0025165	Clumping of elastic fibers in the dermis	Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).
HP:0025166	Thickened elastic fibers in the dermis	An increase of the diameter of elastic fibers in the dermis.
HP:0025167	Fragmented elastic fibers in the dermis	Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.
HP:0025168	Left ventricular diastolic dysfunction	Abnormal function of the left ventricule during left ventricular relaxation and filling.
HP:0025169	Left ventricular systolic dysfunction	Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.
HP:0025170	Neuronal/glioneuronal neoplasm of the central nervous system	A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.
HP:0025171	Rosette-forming glioneuronal tumor	A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.
HP:0025172	Smooth septal thickening on pulmonary HRCT	Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.
HP:0025173	Nodular septal thickening on pulmonary HRCT	Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.
HP:0025174	Irregular septal thickening on pulmonary HRCT	Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.
HP:0025175	Honeycomb lung	Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.
HP:0025176	Intralobular interstitial thickening	A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.
HP:0025177	Peribronchovascular interstitial thickening	Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.
HP:0025178	Subpleural interstitial thickening	Increase in thickness of the subpleural interstitium.
HP:0025179	Ground-glass opacification	On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.
HP:0025181	Abdominal aseptic abscess	An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.
HP:0025182	Localized area of pendulous skin	A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.
HP:0025186	Marcus Gunn jaw winking synkinesis	Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.
HP:0025188	Retinal vasculitis	Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.
HP:0025190	Bilateral tonic-clonic seizure with generalized onset	A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.
HP:0025192	Subtentorial periventricular white matter hyperdensity	Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).
HP:0025193	Posterolateral diaphragmatic hernia	A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.
HP:0025194	Morgagni diaphragmatic hernia	An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.
HP:0025195	Central diaphragmatic hernia	A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.
HP:0025196	Increased total iron binding capacity	An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.
HP:0025197	Inclusion body fibromatosis	A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.
HP:0025198	Inflammatory cap polyp	A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.
HP:0025200	Muscle fiber actin filament accumulation	Accumulation in muscle cells of filaments composed of actin.
HP:0025201	Abnormal circulating apolipoprotein concentration	A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.
HP:0025202	Elevated circulating apolipoprotein A-IV concentration	An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.
HP:0025203	Caput medusae	Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.
HP:0025204	Triggered by	A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.
HP:0025205	Triggered by breast feeding	Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.
HP:0025206	Triggered by cold	Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.
HP:0025207	Triggered by dehydration	Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.
HP:0025208	Triggered by carbohydrate ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.
HP:0025209	Triggered by fructose ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.
HP:0025210	Triggered by glucose ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.
HP:0025211	Triggered by ethanol ingestion	Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.
HP:0025212	Triggered by fasting	Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).
HP:0025213	Triggered by galactose ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.
HP:0025214	Triggered by heat	Applies to a sign or symptom that is provoked or brought about by exposure to heat.
HP:0025215	Triggered by febrile illness	Applies to a sign or symptom that is provoked or brought about by febrile illness.
HP:0025216	Triggered by heavy meal	Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.
HP:0025217	Triggered by high-fat diet	Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.
HP:0025218	Triggered by hyperventilation	Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.
HP:0025219	Triggered by vaccination	Applies to a sign or symptom that is provoked or brought about by a vaccination.
HP:0025220	Triggered by menstruation	Applies to a sign or symptom that is provoked or brought about by menstruation in a female.
HP:0025221	Triggered by pregnancy	Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.
HP:0025222	Triggered by sleep deprivation	Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.
HP:0025223	Triggered by smoking	Applies to a sign or symptom that is provoked or brought about by smoking.
HP:0025224	Triggered by sodium ingestion	Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.
HP:0025225	Triggered by sound	Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.
HP:0025226	Triggered by stress	Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.
HP:0025227	Triggered by excitement	Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.
HP:0025228	Triggered by sudden movement	Applies to a sign or symptom that is provoked or brought about by a sudden movement.
HP:0025229	Triggered by vestibular stimulation	Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.
HP:0025230	Tendonitis	Inflammation of a tendon.
HP:0025231	Abnormal synovial bursa morphology	A structural anomaly of a synovial bursa.
HP:0025232	Bursitis	Inflammation of a synovial bursa.
HP:0025233	Sleep paralysis	An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.
HP:0025234	Parasomnia	An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep.
HP:0025235	Non-rapid eye movement parasomnia	A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).
HP:0025236	Somnambulism	Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.
HP:0025237	Confusional arousal	A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.
HP:0025238	Foot pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.
HP:0025239	Subhyaloid hemorrhage	A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.
HP:0025240	Preretinal hemorrhage	An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.
HP:0025241	Flame-shaped retinal hemorrhage	A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).
HP:0025242	Dot-and-blot retinal hemorrhage	Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.
HP:0025243	Subretinal hemorrhage	Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.
HP:0025244	Subretinal pigment epithelium hemorrhage	An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.
HP:0025245	Cutaneous cyst	A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.
HP:0025246	Trichilemmal cyst	Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.
HP:0025247	Dermoid cyst	A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.
HP:0025248	Eruptive vellus hair cyst	A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.
HP:0025249	Comedo	A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
HP:0025250	Closed comedo	A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.
HP:0025251	Open comedo	A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.
HP:0025252	Geographic tongue	An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.
HP:0025253	Claustrophobia	An abnormal fear of being in a closed or narrow space with no escape.
HP:0025254	Ameliorated by	An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable
HP:0025255	Ameliorated by pregnancy	Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.
HP:0025256	Ameliorated by heat	Applies to a sign or symptom that is improved or made more bearable by heat (including fever).
HP:0025257	Ameliorated by carbohydrate ingestion	Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).
HP:0025258	Stiff neck	A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.
HP:0025259	Stiff elbow	A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.
HP:0025260	Stiff wrist	A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.
HP:0025261	Stiff finger	A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.
HP:0025262	Stiff hip	A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.
HP:0025263	Stiff knee	A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.
HP:0025264	Stiff ankle	A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.
HP:0025265	Stiff toe	A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.
HP:0025267	Snoring	Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.
HP:0025268	Stuttering	Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.
HP:0025269	Panic attack	A sudden episode of intense fear in a situation in which there is no danger or apparent cause.
HP:0025270	Abnormal esophagus physiology	Any physiological abnormality of the esophagus.
HP:0025271	Esophageal spasms	Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.
HP:0025272	Melasma	Symmetrical, blotchy, brownish facial pigmentation.
HP:0025273	Achilles tendonitis	Inflammation of the Achilles tendon.
HP:0025274	Ovarian dermoid cyst	An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.
HP:0025275	Lateral	Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.
HP:0025276	Abnormality of skin adnexa physiology	Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
HP:0025277	Gustatory sweating	Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).
HP:0025278	Cold-induced sweating	Sweating provoked by cold temperature rather than by heat.
HP:0025279	Migratory	
HP:0025280	Pain characteristic	A pain characteristic is defined as a subjective category or type of pain.
HP:0025281	Sharp	Applied to pain that is described as sharp, i.e., sudden and severe.
HP:0025282	Dull	Applied to pain that is dull, i.e., not severe but that continues over a long period of time.
HP:0025283	Tender	Applied to pain that is tender, i.e., elicited by touching the affected body part.
HP:0025284	Sleep-interrupting	Applied to pain that wakes the affecting individual from sleep.
HP:0025285	Aggravated by	An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.
HP:0025286	Aggravated by activity	Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.
HP:0025287	Axial	Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.
HP:0025289	Cervical lymphadenopathy	Enlarged lymph nodes in the neck.
HP:0025290	Upper-body predominance	Applies to an abnormality that affects the arms, trunk, head more than the legs.
HP:0025291	Lower-body predominance	Applies to an abnormality that affects the legs more than the arms, trunk, head.
HP:0025292	Acral	Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).
HP:0025293	Distributed along Blaschko lines	Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.
HP:0025294	Dermatomal	Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.
HP:0025295	Herpetiform	Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.
HP:0025296	Morbilliform	Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.
HP:0025297	Prolonged	Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).
HP:0025300	Malar rash	An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
HP:0025301	Nocturnal	Applies to an abnormality that occurs in or is exacerbated during the night.
HP:0025302	Diurnal	Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.
HP:0025303	Episodic	Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.
HP:0025304	Periodic	Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.
HP:0025305	Quotidian	Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).
HP:0025306	Acute emergence over minutes	Acute appearance of disease manifestations in a period of minutes.
HP:0025307	Acute emergence over hours	Acute appearance of disease manifestations in a period of hours.
HP:0025308	Acute emergence over days	Acute appearance of disease manifestations in a period of days.
HP:0025309	Abnormal pupil shape	A deviation from the normal circular shape of the pupil
HP:0025310	Oval pupil	An abnormal pupil shape that is elliptical, i.e., egg-like.
HP:0025311	Anterior chamber cyst	A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.
HP:0025312	Esophoria	A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.
HP:0025313	Exophoria	A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.
HP:0025314	Choroidal nevus	A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.
HP:0025315	Exacerbated by head trauma	Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.
HP:0025317	Cubitus varus	A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.
HP:0025318	Ovarian carcinoma	A malignant neoplasm originating from the surface ovarian epithelium.
HP:0025319	Rubeosis iridis	Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.
HP:0025320	Leakage of dye on fundus fluorescein angiography	Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.
HP:0025321	Copper accumulation in liver	An anomalous build up of copper (Cu) in the liver.
HP:0025322	Venous occlusion	Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.
HP:0025323	Abnormal arterial physiology	An anomaly of arterial function.
HP:0025324	Arterial occlusion	Blockage of blood flow through an artery.
HP:0025325	Sparse medial eyebrow	Decreased density/number and/or decreased diameter of medial eyebrow hairs.
HP:0025326	Retinal arterial occlusion	Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.
HP:0025327	Decreased renal parenchymal thickness	Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.
HP:0025328	Antepartum hemorrhage	Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.
HP:0025329	Anti-glutamic acid decarboxylase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.
HP:0025330	Downgaze palsy	A limitation of the ability to direct one's gaze below the horizontal meridian.
HP:0025331	Upgaze palsy	A limitation of the ability to direct one's gaze above the horizontal meridian.
HP:0025332	Abnormality of foot cortical bone	An anomaly of the outer shell (cortex) of a foot bone.
HP:0025333	Cortical thinning of foot bones	A reduction in the thickness of the outer shell (cortex) of foot bones.
HP:0025334	Triggered by emotion	Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).
HP:0025335	Delayed ability to stand	A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.
HP:0025336	Delayed ability to sit	A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
HP:0025337	Red eye	A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.
HP:0025338	Circumlimbal hyperemia	A ring of redness at the limbus of the eye, the border between the cornea and the sclera.
HP:0025339	Superficial episcleral hyperemia	Prominence of blood vessels of the superficial episcleral tissues.
HP:0025340	Deep episcleral hyperemia	Prominence of blood vessels of the deep episcleral tissues.
HP:0025341	Corneal keratic precipitates	An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.
HP:0025342	Central retinal artery occlusion	Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.
HP:0025343	Lupus anticoagulant	Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.
HP:0025344	Interlobular bile duct destruction	Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).
HP:0025345	Abnormality of circulating beta-2-microglobulin level	A deviation from the normal concentration of beta-2-microglobulin in the blood.
HP:0025346	Increased circulating beta-2-microglobulin level	Elevated concentration of beta-2-microglobulin in the blood.
HP:0025347	Decreased circulating beta-2-microglobulin level	Reduced concentration of beta-2-microglobulin in the blood.
HP:0025348	Abnormal corneal limbus morphology	An anomaly of the margin of the cornea overlapped by the sclera.
HP:0025349	Limbal edema	Swelling of the margin of the cornea overlapped by the sclera.
HP:0025350	Giant conjunctival papillae	Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.
HP:0025351	Recurrent interdigital mycosis	A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.
HP:0025352	Typically de novo	Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.
HP:0025353	Anti-multiple nuclear dots antibody positivity	A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.
HP:0025354	Abnormal cellular phenotype	An anomaly of cellular morphology or physiology.
HP:0025355	Retinal arterial macroaneurysms	Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.
HP:0025357	Erratic myoclonus	A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.
HP:0025358	Uveal ectropion	Presence of iris pigment epithelium on the anterior surface of the iris.
HP:0025359	Polygonal renal calices	An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).
HP:0025360	Polycalycosis	Increased number of calices of the kidney.
HP:0025361	Abnormality of medullary pyramid morphology	A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.
HP:0025362	Renal medullary pyramid hypoplasia	Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.
HP:0025363	Glomerular endocapillary hypercellularity	Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.
HP:0025364	Glomerular extracapillary hypercellularity	Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.
HP:0025367	Trichoepithelioma	A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.
HP:0025368	Abnormal growth plate morphology	A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).
HP:0025369	Thick growth plates	Increased thickness (dimension along the axis of the bone) of the growth plate.
HP:0025370	Abnormal ossification of the sacrum	Abnormal bone tissue formation (ossification) affecting the sacrum.
HP:0025371	Delayed ossification of the sacrum	Formation of the sacrum bone tissue occurs later than age-adjusted norms.
HP:0025372	Loud snoring	Particularly loud snoring, snoring at high volume.
HP:0025373	Interictal EEG abnormality	Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.
HP:0025374	Duplicated odontoid process	The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.
HP:0025375	Orthotopic os odontoideum	Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.
HP:0025376	Hyperglutaminuria	An increased concentration of glutamine in the urine.
HP:0025377	Triggered by exertion	Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.
HP:0025379	Anti-thyroid peroxidase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
HP:0025380	Increased circulating androstenedione concentration	Increased concentration of androstenedione in the blood circulation.
HP:0025381	Anti-pituitary antibody positivity	Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.
HP:0025382	Hypodipsia	Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.
HP:0025383	Dorsocervical fat pad	An area of fat accumulation at the back of the neck in the form of a hump.
HP:0025384	Diet-resistant subcutaneous adipose tissue	Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.
HP:0025385	Diet-resistant subcutaneous adipose tissue below waist	Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.
HP:0025386	Bitemporal hollowing	Depression of profile in both temporal regions.
HP:0025387	Pill-rolling tremor	A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.
HP:0025388	Thyroid nodule	A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.
HP:0025389	Pulmonary interstitial high-resolution computed tomography abnormality	High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.
HP:0025390	Reticular pattern on pulmonary HRCT	On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.
HP:0025391	Crazy paving pattern	The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.
HP:0025392	Nodular pattern on pulmonary HRCT	A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.
HP:0025393	Reticulonodular pattern on pulmonary HRCT	Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.
HP:0025394	Cystic pattern on pulmonary HRCT	On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.
HP:0025395	Combined cystic and ground-glass pattern on pulmonary HRCT	Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,
HP:0025396	Decreased attenuation pattern on pulmonary HRCT	Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.
HP:0025397	Mosaic attenuation pattern on pulmonary HRCT	A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.
HP:0025398	Nodular-perilymphatic pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.
HP:0025399	Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.
HP:0025400	Nodular-random pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.
HP:0025401	Staring gaze	An abnormality in which the eyes are held permanently wide open.
HP:0025402	Square-wave jerks	Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.
HP:0025403	Stooped posture	A habitual positioning of the body with the head and upper back bent forward.
HP:0025404	Abnormal visual fixation	Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.
HP:0025405	Visual fixation instability	A deficit in the ability to fixate eye movements in order to stabilize images on the retina
HP:0025406	Asthenia	A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
HP:0025407	Rectourethral fistula	An abnormal connection (fistula) between the rectum and the urethra.
HP:0025408	Abnormal spleen morphology	Any anomaly of the structure of the spleen.
HP:0025409	Abnormal spleen physiology	Any anomaly of the function of the spleen.
HP:0025410	Splenogonadal fusion	Joining of the spleen and a gonad during embryological development.
HP:0025413	Fossa navicularis urethral stricture	A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.
HP:0025414	Pendulous urethral stricture	A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.
HP:0025415	Bulbar urethral stricture	A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.
HP:0025416	Vaginal stricture	A narrowing of the vagina owing to scar formation.
HP:0025417	Patulous urethra	Urethra more open or expanded than normal.
HP:0025418	Renal cortical necrosis	Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.
HP:0025419	Pulmonary pneumatocele	A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.
HP:0025420	Diffuse alveolar hemorrhage	A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.
HP:0025421	Pneumomediastinum	The presence of free air in the mediastinum.
HP:0025422	Pleural cyst	A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.
HP:0025423	Abnormal larynx morphology	Any anomaly of the structure of the larynx.
HP:0025424	Abnormal larynx physiology	Any anomaly of the function of the larynx.
HP:0025425	Laryngospasm	A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.
HP:0025426	Abnormal bronchus morphology	Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.
HP:0025427	Abnormal bronchus physiology	Any anomaly of the function of the bronchi.
HP:0025428	Bronchospasm	A spasm (sudden, involuntary constriction) of the bronchioles.
HP:0025429	Abnormal cry	Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.
HP:0025430	High-pitched cry	A type of crying in an abnormally high-pitched voice.
HP:0025431	Staccato cry	A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.
HP:0025432	Acanthoma	A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.
HP:0025433	Decreased lecithin cholesterol acyl transferase level	Reduced level of the enzyme lecithin cholesterol acyl transferase.
HP:0025434	Reduced hemolytic complement activity	A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
HP:0025435	Increased circulating lactate dehydrogenase concentration	An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
HP:0025436	Elevated serum 11-deoxycortisol	Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.
HP:0025437	Macrocephalic sperm head	Increased size of the head of sperm.
HP:0025439	Pharyngitis	Inflammation (due to infection or irritation) of the pharynx.
HP:0025440	Warm reactive autoantibody positivity	Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.
HP:0025441	Achilles tendon calcification	Ectopic deposition of calcium salts in the Achilles tendon.
HP:0025443	Abnormal cardiac atrial physiology	An abnormality of the function of the cardiac atria.
HP:0025444	Reduced amygdala volume	A decrease in the volume (size) of the amygdyla.
HP:0025445	Morphological abnormality of the papillary muscles	Any structural anomaly of the papillary muscles of the left ventricle.
HP:0025446	Anomalous insertion of papillary muscle directly into anterior mitral leaflet	A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.
HP:0025447	Displacement of the papillary muscles	Abnormal location of the insertion of a papillary muscle into the left ventricular wall.
HP:0025448	Anterior displacement of the papillary muscles	Abnormally anterior location of the papillary muscles of the left ventricle.
HP:0025449	Apically displaced anterolateral papillary muscle	Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,
HP:0025451	Testicular adrenal rest tumor	Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.
HP:0025452	Pyoderma gangrenosum	A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.
HP:0025453	Delayed adrenarche	Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.
HP:0025454	Abnormal CSF metabolite concentration	Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.
HP:0025456	Abnormal CSF protein concentration	Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.
HP:0025457	Decreased CSF protein concentration	CSF total protein level is below the lower limit of normal.
HP:0025458	Decreased CSF albumin concentration	CSF albumin level is below the lower limit of normal.
HP:0025459	Increased CSF/serum albumin ratio	An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.
HP:0025460	High myoinositol in brain by MRS	An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025461	Abnormal cell morphology	Any anomaly of cell structure.
HP:0025463	Abnormality of redox activity	An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.
HP:0025464	Increased reactive oxygen species production	An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.
HP:0025465	Abnormal circulating beta globulin level	A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.
HP:0025466	Beta 2-microglobulinuria	Increased level of beta 2-microglobulins in the urine.
HP:0025469	Anagen effluvium	An abnormal loss of anagen (growth phase) hairs.
HP:0025470	Telogen effluvium	A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.
HP:0025471	Congenital panfollicular nevus	A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.
HP:0025472	Recurrent plantar mycosis	A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.
HP:0025473	Hyperpigmented papule	A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.
HP:0025474	Erythematous plaque	A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.
HP:0025475	Erythematous macule	A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.
HP:0025476	Testicular lipomatosis	Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.
HP:0025477	Periarticular calcification	Calcified deposits in soft tissue structures outside a joint.
HP:0025478	Atrial standstill	Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.
HP:0025479	Self-neglect	Neglecting one's own needs and well-being.
HP:0025480	Lipomyelomeningocele	A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.
HP:0025481	Cervical hemivertebrae	Absence of one half of the vertebral body in the cervical spine.
HP:0025482	Positive perchlorate discharge test	An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.
HP:0025483	Abnormal circulating thyroglobulin level	A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.
HP:0025484	Increased circulating thyroglobulin level	An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.
HP:0025485	Vaginal adenosis	Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.
HP:0025486	Fused labia majora	The outer labia are sealed together.
HP:0025487	Abnormality of bladder morphology	Any structural anomaly of the bladder.
HP:0025488	Detrusor sphincter dyssynergia	A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.
HP:0025489	Bladder duplication	A congenital anomaly characterized by the presence of two bladders.
HP:0025490	Myocardial bridging	A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.
HP:0025491	Venous stenosis	Narrowing of a vein due to intimal hyperplasia and fibrosis.
HP:0025492	Microcoria	A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.
HP:0025493	Palmoplantar erythema	Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0025494	Coated aorta	Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans
HP:0025495	Descending aorta hypoplasia	Significant luminal narrowing of a long segment of the descending aorta.
HP:0025496	Abnormal coronary artery physiology	Any anomaly of the function of a coronary artery.
HP:0025497	Coronary artery spasm	A brief and sudden narrowing of a coronary artery.
HP:0025498	Aceruloplasminemia	Absence of ceruloplasmin in the blood.
HP:0025499	Class I obesity	Obesity with a body mass index of 30 to 34.9 kg per square meter.
HP:0025500	Class II obesity	Obesity with a body mass index of 35 to 39.9 kg per square meter.
HP:0025501	Class III obesity	Obesity with a body mass index of 40 kg per square meter or higher.
HP:0025502	Overweight	Increased body weight with a body mass index of 25-29.9 kg per square meter.
HP:0025503	Anomalous coronary artery arising from the opposite sinus	Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.
HP:0025505	Anomalous origin of the circumflex artery from the right sinus of Valsalva	The circumflex coronary artery originates from the right aortic sinus of Valsalva.
HP:0025506	Coronary artery sandwich anomaly	Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,
HP:0025507	Yellow papule	A papule with yellow color.
HP:0025508	Gottron's papules	Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.
HP:0025509	Piezogenic pedal papules	Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.
HP:0025510	Nevus spilus	A tan, regularly bordered patch with darker macules within the lesion.
HP:0025511	Nevus sebaceus	A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.
HP:0025512	Skin-colored papule	A papule with the same color as the surrounding skin.
HP:0025513	Scleral rupture	Breakage of the sclera.
HP:0025514	Morning glory anomaly	An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.
HP:0025515	Delayed thelarche	Later than normal development of the breasts.
HP:0025516	Coronary-pulmonary artery fistula	A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.
HP:0025517	Hypoplastic hippocampus	Underdevelopment of the hippocampus.
HP:0025518	Visual gaze preference	An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.
HP:0025519	Multiple biliary hamartomas	Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.
HP:0025520	Calcinosis cutis	Deposition of calcium in the skin.
HP:0025521	Increased body fat percentage	The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.
HP:0025522	Elongated chordae tendinae of the mitral valve	Abnormal increased in length of the chordae tendinae of the mitral valve.
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.
HP:0025524	Palmoplantar scaling skin	Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.
HP:0025525	Scaling skin on fingertip	Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.
HP:0025526	Psoriasiform lesion	A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.
HP:0025527	Serpiginous cutaneous lesion	A skin lesion with a snake- or serpent-like distribution.
HP:0025528	Annular cutaneous lesion	A lesion of the skin with a ring-like distribution.
HP:0025529	Hyperpigmented nodule	A nodule of the skin that exhibits an increased amount of pigmentation.
HP:0025530	Xanthomas of the palmar creases	The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
HP:0025531	Harlequin phenomenon	The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.
HP:0025532	Positive pathergy test	With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.
HP:0025533	Peau d'orange	
HP:0025534	Ocular melanocytosis	A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.
HP:0025535	Shawl sign	Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.
HP:0025536	V-sign	Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.
HP:0025537	Plantar edema	An abnormal accumulation of fluid beneath the skin on sole of the foot.
HP:0025538	Palmar edema	An abnormal accumulation of fluid beneath the skin on the palm of the hand.
HP:0025539	Abnormal B cell subset distribution	
HP:0025540	Abnormal T cell subset distribution	Any abnormality in the proportion T cells subsets relative to the total number of T cells.
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.
HP:0025547	Decreased mean corpuscular hemoglobin concentration	A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.
HP:0025548	Increased mean corpuscular hemoglobin concentration	An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).
HP:0025549	Eccentric visual fixation	A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.
HP:0025550	Elevated circulating ribitol concentration	An increase above the normal concentration of ribitol in the blood.
HP:0025551	Optic nerve misrouting	Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).
HP:0025552	Periorbital purpura	Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.
HP:0025553	Periorbital ecchymosis with tarsal plate sparing	Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.
HP:0025554	Yellow nodule	A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).
HP:0025555	Periungual teleangiectasia	Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.
HP:0025558	Lamellar cataract with riders	Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.
HP:0025559	Coronary cataract	A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.
HP:0025560	Anterior chamber cells	Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025561	Anterior chamber cells grade 1+	Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025562	Anterior chamber cells grade 0.5+	Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025563	Anterior chamber cells grade 0	Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025564	Anterior chamber cells grade 2+	Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025565	Anterior chamber cells grade 3+	Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025566	Anterior chamber cells grade 4+	Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
HP:0025567	Central serous chorioretinopathy	An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.
HP:0025568	Abnormal morphology of the choroidal vasculature	
HP:0025569	Polypoidal choroidal vasculopathy	The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.
HP:0025570	Choroidal vascular hyperpermeability	Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).
HP:0025571	Christmas tree cataract	A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.
HP:0025572	Punctal stenosis	Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.
HP:0025573	Mild myopia	A mild form of myopia with up to -3.00 diopters.
HP:0025574	Macular hemorrhage	Bleeding occurring within the macula lutea of the retina.
HP:0025575	Abnormal superior vena cava morphology	Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.
HP:0025576	Abnormal inferior vena cava morphology	Any structural anomaly of the principal vein draining blood from the lower portion of the body.
HP:0025578	Aortic valve prolapse	Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.
HP:0025579	Abnormal left atrium morphology	Any structural abnormality of the left atrium.
HP:0025580	Abnormal right atrium morphology	Any structural abnormality of the right atrium.
HP:0025581	Foveal hemorrhage	Bleeding occurring within the fovea.
HP:0025582	Submacular hemorrhage	Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.
HP:0025583	Tapetal-like fundal reflex	Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.
HP:0025584	Hypotropia	A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.
HP:0025585	Hyperphoria	Tendency for the visual axis of one eye to be higher than that of the other.
HP:0025586	Hypertropia	A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
HP:0025587	Hyperdeviation	A type of strabismus in which the visual axis of one eye is higher than that of the other.
HP:0025588	Hypodeviation	A type of strabismus in which the visual axis of one eye is lower than that of the other.
HP:0025589	Cyclodeviation	Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.
HP:0025590	Abnormal extraocular muscle physiology	A functional anomaly of the muscles of the eye.
HP:0025591	Abnormal superior oblique muscle physiology	A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.
HP:0025592	Superior oblique muscle weakness	Decreased strength of the superior oblique muscle.
HP:0025593	Superior oblique muscle restriction	Mechanical limitation of the range of movement of the superior oblique muscle.
HP:0025594	Superior oblique muscle overaction	An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.
HP:0025595	Superior oblique muscle underaction	Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0025596	Abnormal inferior oblique muscle physiology	A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.
HP:0025597	Inferior oblique muscle restriction	Mechanical limitation of the range of movement of the inferior oblique muscle.
HP:0025598	Inferior oblique muscle weakness	Decreased strength of the inferior oblique muscle.
HP:0025599	Inferior oblique muscle overaction	A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.
HP:0025600	Abnormal inferior rectus muscle physiology	A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.
HP:0025601	Inferior rectus muscle weakness	Decreased strength of the inferior rectus muscle.
HP:0025602	Inferior rectus muscle restriction	Mechanical limitation of the range of movement of the inferior rectus muscle.
HP:0025603	Abnormal superior rectus muscle physiology	A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.
HP:0025604	Orbital schwannoma	A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.
HP:0025605	Lid lag on downgaze	Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.
HP:0025606	Abnormal medial rectus muscle physiology	A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.
HP:0025607	Upper eyelid entropion	An inward turning (inversion) of the margin of the upper eyelid.
HP:0025608	Cicatricial ectropion	An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.
HP:0025609	Anterior blepharitis	A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.
HP:0025610	Posterior blepharitis	A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.
HP:0025611	Epicanthus superciliaris	A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).
HP:0025612	Corneal astigmatism	A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.
HP:0025613	Focal emotional seizure	Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.
HP:0025615	Abscess	
HP:0025616	Sterile abscess	An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.
HP:0025617	Abnormal plasma cell count	An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.
HP:0025618	Reduced plasma cell count	An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.
HP:0025619	Elevated plasma cell count	An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.
HP:0025620	Abnormal proportion of CD4+ central memory cells	An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.
HP:0025623	Abnormal proportion of CD4+ effector memory cells	An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0025624	Reduced proportion of CD4+ effector memory T cells	An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-ngative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0025625	Elevated proportion of CD4+ effector memory T cells	An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.
HP:0025626	Increased circulating oleate level	An abnormally high concentration of oleic acid (oleate) in the blood circulation.
HP:0025627	Increased circulating octadecanoate level	An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).
HP:0025628	Increased circulating myristoleate level	An abnormally high concentration of myristoleate in the blood circulation.
HP:0025629	Anti-myelin-associated glycoprotein antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).
HP:0025630	Argininosuccinic aciduria	Increased amount of argininosuccinate in the urine.
HP:0025631	Alpha-aminobutyric aciduria	Increased amount of alpha-aminobutyric acid in the urine.
HP:0025632	Reduced reactive oxygen species production in neutrophils	An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst.
HP:0025633	Abnormal ureter morphology	A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
HP:0025634	Abnormal ureter physiology	A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
HP:0025635	Ureteral polyp	A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.
HP:0025636	Endometritis	Inflammation of the inner lining of the uterus (endometrium).
HP:0025637	Vasospasm	Narrowing of an artery due to constriction of the blood vessels.
HP:0025638	Elevated urinary N-butyrylglycine	An increased level of N-butyrylglycine in the urine.
HP:0025639	Increased urinary zinc level	An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.
HP:0025640	Abnormal urinary mineral level	An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.
HP:0025641	Elevated circulating glycolate concentration	An abnormally increased concentration of glycolate in the blood circulation.
HP:0025643	Tarlov cyst	A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.
HP:0025644	Fixation-off epileptiform discharges	Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).
HP:0025646	Bilateral polymicrogyria	Polymicrogyria that affects all or some of both cerebral hemispheres.
HP:0025647	Steroid-sensitive nephrotic syndrome	A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy.
HP:0025648	Steroid-sensitive nephrotic syndrome with infrequent relapses	A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.
HP:0025649	Steroid-sensitive nephrotic syndrome with frequent relapses	A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.
HP:0025650	Steroid-dependent nephrotic syndrome	A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.
HP:0025652	Abnormal placental adhesion into the uterine wall	Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.
HP:0025653	Placenta percreta	Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.
HP:0025654	Placenta acreta	Abnormally firm adherence of the placenta to the uterine wall.
HP:0025655	Placenta increta	Abnormal placental pentration into but not beyond the uterine wall.
HP:0025656	Prenatal double bubble sign	Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.
HP:0025657	Abnormal umbilical blood flow measurement	
HP:0025659	Decreased circulating creatine kinase concentration	A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.
HP:0025660	Chiari type II malformation	A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele.
HP:0025661	Chiari type III malformation	A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.
HP:0025662	Abnormal fetal skeletal morphology	An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.
HP:0025663	Reduced fetal femur/foot length ratio	This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.
HP:0025664	Moderate to late preterm birth	Birth at 32 to 36 completed weeks of gestation.
HP:0025665	Extremely preterm birth	Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).
HP:0025666	Very preterm birth	Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).
HP:0025667	Fetal neck anomaly	A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0025668	Abnormal neck morphology	Any structural anomaly of the neck region.
HP:0025669	Abnormal neck physiology	Any functional anomaly of the neck region.
HP:0025670	Syntelencephaly	Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.
HP:0025671	Fetal pericardial effusion	An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.
HP:0025672	Fetal skin edema	A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.
HP:0025673	Loculated ascites	A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.
HP:0025674	Meconium pseudocyst	A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.
HP:0025675	Premature closure of the ductus arteriosus	A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).
HP:0025676	Fetal pleural effusion	Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.
HP:0025677	Fetal chylothorax	The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.
HP:0025678	Fetal hydrothorax	Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.
HP:0025679	Diskitis	Inflammation of an intervertebral disc or disk space.
HP:0025680	Compound muscle action potential amplitude facilitation	Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.
HP:0025681	Distal clavicular thinning	Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.
HP:0025682	Crouch gait	A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.
HP:0025683	Abnormal amyloid beta 42 peptide CSF concentration	Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.
HP:0025684	Decreased amyloid beta 42 peptide CSF concentration	A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).
HP:0025685	Increased amyloid beta 42 peptide CSF concentration	An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).
HP:0025686	Abnormal amyloid beta 40 peptide CSF concentration	Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.
HP:0025687	Increased amyloid beta 40 peptide CSF concentration	An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).
HP:0025688	Abnormal amyloid beta peptide CSF concentration	Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.
HP:0025689	Extra-abdominal umbilical vein varix	Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.
HP:0025690	Fetal intra-abdominal umbilical vein varix	Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age.
HP:0025691	Impaired fasting glucose	Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.
HP:0025692	Atelencephaly	A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops).
HP:0025693	Pituitary macroadenoma	A pituitary gland adenoma that is larger than 10mm.
HP:0025694	Pituitary microadenoma	A pituitary adenoma that is less than 10 mm in diameter.
HP:0025695	Mucus plug	Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.
HP:0025696	Airway casts	A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.
HP:0025697	Fibrin casts	A type of airway casts that consist of plasma components and inflammatory cells.
HP:0025698	Mucin casts	A type of airway casts that consist of impacted mucus.
HP:0025699	Perisylvian FDG hypermetabolism	18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.
HP:0025700	Anhydramnios	A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.
HP:0025701	Distended jugular lymphatic sacs	The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.
HP:0025702	Type 1 schizencephaly	A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.
HP:0025703	Type 2 schizencephaly	A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal grey matter that are opposed to each other.
HP:0025704	Type 3 schizencephaly	A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter.
HP:0025705	Abnormal fetal nasal bone visualization	Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.
HP:0025706	Absent fetal nasal bone	The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.
HP:0025707	Hypoplastic nasal bone	Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.
HP:0025708	Early young adult onset	Onset of disease at an age of greater than or equal to 16 to under 19 years.
HP:0025709	Intermediate young adult onset	Onset of disease at an age of greater than or equal to 19 to under 25 years.
HP:0025710	Late young adult onset	Onset of disease at an age of greater than or equal to 25 to under 40 years.
HP:0025711	Convergence-retraction nystagmus	Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.
HP:0025712	Spontaneous chorioamniotic separation	Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).
HP:0025713	Neurite dystrophy	Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.
HP:0025714	Cerebral cortical microinfarct	An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.
HP:0025715	Abnormal umbilical artery doppler waveform during pregnancy	Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.
HP:0025716	Fetal anemia	Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.
HP:0025717	Skeletal muscle autophagosome accumulation	Abnormal accumulation of autophagosomes in skeletal muscle tissue.
HP:0025718	Skeletal muscle hyperechogenicity	An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.
HP:0025719	Maternal vascular malperfusion	Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.
HP:0025720	Limited horizontal extraocular movement	Limited mobility of the eye to move from side to side (horizontally) within its socket.
HP:0025721	Limited vertical extraocular movement	Limited mobility of the eye to move up and down (vertically) within its socket.
HP:0025722	Cerebral infarct	A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.
HP:0025723	Abnormal fetal skin morphology	Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0025724	Caseous vernix-like desquamation	Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.
HP:0025725	Type 1 congenital pulmonary airway malformation	A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.
HP:0025726	Type 2 congenital pulmonary airway malformation	A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).
HP:0025727	Type 3 congenital pulmonary airway malformation	A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.
HP:0025728	Periventricular pseudocyst	Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.
HP:0025729	Fetal vascular malperfusion	The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is throught to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).
HP:0025730	Foramen ovale aneurysm	Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.
HP:0030000	EMG: repetitive nerve stimulation abnormality	Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.
HP:0030001	Lagophthalmos	A condition in which the eyelids do not close to cover the eye completely.
HP:0030002	Nocturnal lagophthalmos	The inability to close the eyelids during sleep.
HP:0030003	Paralytic lagophthalmos	A type of lagophthalmos that occurs in association with facial nerve palsy.
HP:0030004	Cicatricial lagophthalmos	A type of lagophthalmos that occurs following trauma or surgery.
HP:0030005	Capillary leak	An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.
HP:0030006	Single fiber EMG abnormality	Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.
HP:0030007	EMG: positive sharp waves	These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.
HP:0030008	Cervical agenesis	Congenital absence of the cervix.
HP:0030009	Cervical insufficiency	A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent
HP:0030010	Hydrometrocolpos	Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
HP:0030011	Imperforate hymen	A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.
HP:0030012	Abnormal female reproductive system physiology	
HP:0030014	Female sexual dysfunction	A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity
HP:0030015	Female anorgasmia	The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.
HP:0030016	Dyspareunia	Recurrent or persistent genital pain associated with sexual intercourse.
HP:0030017	Vaginismus	Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.
HP:0030018	Decreased female libido	Dminished sexual desire in female.
HP:0030019	Increased female libido	Elevated sexual desire in female
HP:0030021	Auricular tag	Small protrusion within the pinna.
HP:0030022	Question mark ear	Cleft between the helix and the lobe.
HP:0030023	Quelprud nodule	Small cartilaginous prominence on the posterior concha.
HP:0030024	Pretragal ectopia	Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.
HP:0030025	Auricular pit	Small indentation in the lower part of the ascending helix, concha, or in the crus helix.
HP:0030026	Squared superior portion of helix	Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.
HP:0030027	Abnormal nasal cartilage morphology	A morphological anomaly of the nasal cartilage.
HP:0030028	Absent nasal cartilage	Lack of a palpable nasal cartilage.
HP:0030029	Splayed fingers	Divergence of digits along the A/P axis (in the plane of the palm).
HP:0030030	Absent ray	The absence of all phalanges of a digit and the associated metacarpal /metatarsal.
HP:0030031	Small toe	Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.
HP:0030032	Partial absence of foot	An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.
HP:0030033	Small finger	Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.
HP:0030034	Glomerular basement membrane lamellation	Presence of abnormal additional layers of the basement membrane of the glomerulus.
HP:0030035	Struvite nephrolithiasis	Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).
HP:0030036	Isothenuria	Inability of the kidneys to produce either concentrated or dilute urine.
HP:0030037	Bifid ureter	Incomplete duplication of the ureter.
HP:0030038	Enchondroma	A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.
HP:0030039	Fused thoracic vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.
HP:0030040	Fused lumbar vertebrae	A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.
HP:0030041	Schmorl's node	A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.
HP:0030042	Incomplete ossification of pubis	Failure to complete ossification (maturation and calcification) of the pubic bone.
HP:0030043	Hip subluxation	A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
HP:0030044	Flexion contracture of digit	A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
HP:0030045	Serpentine fibula	Elongated curved (S-shaped) fibulae.
HP:0030046	Hypoglycosylation of alpha-dystroglycan	A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.
HP:0030047	Abnormal lateral ventricle morphology	A morphological anomaly of the lateral ventricle.
HP:0030048	Colpocephaly	Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.
HP:0030049	Brain abscess	A collection of pus, immune cells, and other material in the brain.
HP:0030050	Narcolepsy	An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.
HP:0030051	Tip-toe gait	An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
HP:0030052	Inguinal freckling	The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
HP:0030053	Stiff skin	An induration (hardening) of the skin
HP:0030054	Perifollicular fibrosis	Presence of excess fibrous connective tissue surrounding hair follicules.
HP:0030055	Hyperconvex toenail	When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.
HP:0030056	Uncombable hair	Hair that is disorderly, stands out from the scalp, and cannot be combed flat.
HP:0030057	Autoimmune antibody positivity	The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
HP:0030058	Sickled erythrocytes	An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).
HP:0030059	Mitochondrial depletion	An abnormal reduction in mitochondrial DNA content of cells.
HP:0030060	Nervous tissue neoplasm	A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).
HP:0030061	Neuroectodermal neoplasm	A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.
HP:0030062	Craniopharyngioma	A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.
HP:0030063	Neuroepithelial neoplasm	A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.
HP:0030064	Neurocytoma	A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.
HP:0030065	Primitive neuroectodermal tumor	A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.
HP:0030066	Ependymoblastoma	A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.
HP:0030067	Peripheral primitive neuroectodermal neoplasm	A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.
HP:0030068	Olfactory esthesioneuroblastoma	A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.
HP:0030069	Primary central nervous system lymphoma	A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.
HP:0030070	Central primitive neuroectodermal tumor	A primitive neuroectodermal neoplasm that occurs in the central nervous system.
HP:0030071	Medulloepithelioma	A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.
HP:0030072	Paranasal sinus neoplasm	A tumor that originates in the paranasal sinus.
HP:0030074	Chemodectoma	A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
HP:0030075	Ductal carcinoma in situ	Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.
HP:0030076	Lobular carcinoma in situ	
HP:0030077	Bronchial neoplasm	A tumor originating in a bronchus.
HP:0030078	Lung adenocarcinoma	
HP:0030079	Cervix cancer	A tumor of the uterine cervix.
HP:0030080	Burkitt lymphoma	A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.
HP:0030081	Punctate periventricular T2 hyperintense foci	Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.
HP:0030082	Abnormal drinking behavior	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
HP:0030083	Salt craving	An excessive desire to eat salt (sodium chloride) or salty foods.
HP:0030084	Clinodactyly	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
HP:0030085	Abnormal CSF lactate concentration	Abnormal concentration of lactate in the cerebrospinal fluid.
HP:0030086	Reduced CSF lactate	Decreased concentration of lactate in the cerebrospinal fluid.
HP:0030087	Abnormal circulating testosterone concentration	An anomalous concentration of testosterone in the blood.
HP:0030088	Increased serum testosterone level	An elevated circulating testosterone level in the blood.
HP:0030089	Abnormal muscle fiber protein expression	An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.
HP:0030090	Abnormal muscle fiber merosin expression	An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.
HP:0030091	Absent muscle fiber merosin	Lack of merosin protein in the muscle biopsy.
HP:0030092	Reduced muscle fiber merosin	A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.
HP:0030093	Abnormal muscle fiber laminin beta 1	A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.
HP:0030094	Reduced muscle fiber laminin beta 1	A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.
HP:0030095	Reduced muscle collagen VI	A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.
HP:0030096	Abnormal muscle fiber dystrophin expression	A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.
HP:0030097	Absent muscle dystrophin expression	Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.
HP:0030098	Reduced muscle dystrophin expression	A decreased amount of dystrophin in muscle fiber tissue.
HP:0030099	Reduced muscle fiber alpha dystroglycan	Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.
HP:0030100	Abnormal muscle fiber alpha sarcoglycan	Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
HP:0030101	Absent muscle fiber alpha sarcoglycan	Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.
HP:0030102	Reduced muscle fiber alpha sarcoglycan	A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.
HP:0030103	Abnormal muscle fiber beta sarcoglycan	Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
HP:0030104	Abnormal muscle fiber gamma sarcoglycan	Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
HP:0030105	Abnormal muscle fiber delta sarcoglycan	Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
HP:0030106	Absent muscle fiber beta sarcoglycan	Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.
HP:0030107	Reduced muscle fiber beta sarcoglycan	Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.
HP:0030108	Reduced muscle fiber gamma sarcoglycan	Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.
HP:0030109	Absent muscle fiber gamma sarcoglycan	Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.
HP:0030110	Absent muscle fiber delta sarcoglycan	Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.
HP:0030111	Reduced muscle fiber delta sarcoglycan	Abnormally reduced amount of delta sarcoglycan in muscle.
HP:0030112	Abnormal muscle fiber alpha dystroglycan	A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.
HP:0030113	Abnormal muscle fiber dysferlin	A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.
HP:0030114	Absent muscle fiber dysferlin	Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.
HP:0030115	Reduced muscle fiber dysferlin	Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.
HP:0030116	Abnormal muscle fiber emerin	A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.
HP:0030117	Absent muscle fiber emerin	Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.
HP:0030118	Reduced muscle fiber emerin	Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.
HP:0030119	Abnormal muscle fiber calpain-3	A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.
HP:0030120	Absent muscle fiber calpain-3	Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.
HP:0030121	Reduced muscle fiber calpain-3	Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.
HP:0030122	Reduced muscle fiber perlecan	Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).
HP:0030123	Abnormal muscle fiber lamin A/C	A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.
HP:0030124	Reduced muscle fiber lamin A/C	A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.
HP:0030125	Sacralization of the fifth lumbar vertebra	A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.
HP:0030126	Abnormal endometrium morphology	An anomaly of the inner mucous membrane of the uterus.
HP:0030127	Endometriosis	The growth of endometrial tissue outside the uterus.
HP:0030129	Impaired ristocetin cofactor assay activity	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.
HP:0030130	Impaired von Willebrand factor collagen binding activity	Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.
HP:0030131	Abnormal von Willebrand factor multimer distribution	Deviation from the normal von Willebrand factor multimer pattern.
HP:0030132	Absence of large von Willebrand factor multimers	Absence of large von Willebrand Factor multimers on gel electrophoresis.
HP:0030133	Abnormal presence of ultra-large von Willebrand factor multimers	Detection of abnormal ultra-large von Willebrand factor multimers.
HP:0030134	Total absence von Willebrand factor multimers	Complete absence of all von Willebrand factor multimers.
HP:0030135	Absence of intermediate von Willebrand factor multimers	Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.
HP:0030136	Enhanced ristocetin cofactor assay activity	Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.
HP:0030137	Prolonged bleeding following circumcision	Bleeding that persists for a longer than usual time following circumcision.
HP:0030138	Excessive bleeding from superficial cuts	An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.
HP:0030139	Excessive bleeding after a venipuncture	An abnormal high amount of bleeding following the procedure of taking a blood sample.
HP:0030140	Oral cavity bleeding	Recurrent or excessive bleeding from the mouth.
HP:0030141	Abnormality of the posterior hairline	An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.
HP:0030142	Abnormal bowel sounds	An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.
HP:0030143	Hyperactive bowel sounds	Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.
HP:0030144	Hypoactive bowel sounds	An decreased amount of bowel sounds.
HP:0030145	Lack of bowel sounds	Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.
HP:0030146	Abnormal liver parenchyma morphology	A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.
HP:0030147	Truncal titubation	Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.
HP:0030148	Heart murmur	An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.
HP:0030149	Cardiogenic shock	Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.
HP:0030150	Plasmacytosis	An abnormally increased number of plasma cells in tissues, exudates, or blood
HP:0030151	Cholangitis	Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
HP:0030153	Cholangiocarcinoma	Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.
HP:0030154	Gallbladder perforation	Rupture of the wall of the gallbladder.
HP:0030155	Scrotal pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.
HP:0030156	Bence Jones Proteinuria	The presence of free monoclonal immunoglobulin light chains in the urine.
HP:0030157	Flank pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.
HP:0030158	Cervical ectropion	Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu
HP:0030159	Cervical polyp	Abnormal growth of tissue projecting from a mucous membrane of the endocervix.
HP:0030160	Cervicitis	Inflammation of the uterine cervix.
HP:0030161	Vaginal pruritus	A sensation of itching in the vagina.
HP:0030162	Glomerulomegaly	Abnormally large size of glomeruli.
HP:0030163	Abnormal vascular physiology	Abnormality of vascular function.
HP:0030164	Jaw claudication	Pain in the jaw or ear induced by chewing or otherwise moving the jaw.
HP:0030165	Temporal artery tortuosity	The presence of an increased number of twists and turns of the temporal artery.
HP:0030166	Night sweats	Occurrence of excessive sweating during sleep.
HP:0030167	Antimitochondrial antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.
HP:0030168	Dilated superficial abdominal veins	Increase in diameter of the veins located underneath the skin of the abdomen.
HP:0030169	Gastric varix	Extreme dilation of the submucusoal veins in the stomach.
HP:0030170	Cystic artery pseudoaneurysm	Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.
HP:0030171	Perirenal hematoma	A collection of clotted blood surrounding the kidney.
HP:0030172	Peripheral amyelination	Congenital absence of the myelin sheath on a nerve.
HP:0030173	Peripheral hypermyelination	Increased amount of peripheral myelination.
HP:0030174	Increased peripheral myelin thickness	Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.
HP:0030175	Myelin tomacula	The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).
HP:0030176	Asymmetric peripheral demyelination	Loss of myelin from peripheral nerves in a pattern that differs between right and left.
HP:0030177	Abnormality of peripheral nervous system electrophysiology	An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.
HP:0030178	Abnormality of central nervous system electrophysiology	
HP:0030179	Abnormal peripheral action potential amplitude	An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.
HP:0030180	Oppenheim reflex	Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).
HP:0030181	Gordon reflex	Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).
HP:0030182	Tetraplegia/tetraparesis	Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.
HP:0030183	Impaired visually enhanced vestibulo-ocular reflex	The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).
HP:0030185	Isometric tremor	An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).
HP:0030186	Kinetic tremor	Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
HP:0030187	Titubation	Nodding movement of the head or body.
HP:0030188	Tremor by anatomical site	Tremor classified by the affected body part.
HP:0030190	Oral motor hypotonia	Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.
HP:0030191	Abnormal peripheral nervous system synaptic transmission	An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.
HP:0030192	Fatigable weakness of bulbar muscles	A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030193	Fatigable weakness of chewing muscles	A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030194	Fatigable weakness of speech muscles	A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030195	Fatigable weakness of swallowing muscles	A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030196	Fatigable weakness of respiratory muscles	A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030197	Fatigable weakness of skeletal muscles	A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030198	Fatigable weakness of distal limb muscles	A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030199	Fatigable weakness of neck muscles	A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030200	Fatiguable weakness of proximal limb muscles	A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
HP:0030201	Response to drugs acting on neuromuscular transmission	Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.
HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.
HP:0030205	Increased jitter at single fiber EMG	The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).
HP:0030206	EMG: incremental response of compound muscle action potential to repetitive nerve stimulation	A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.
HP:0030207	Paradoxical respiration	Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.
HP:0030208	Anti-acetylcholine receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.
HP:0030209	Calcium channel antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.
HP:0030210	Anti-muscle-specific tyrosine kinase antibody	The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).
HP:0030211	Slow pupillary light response	Reduced velocity and acceleration in the pupillary light response.
HP:0030212	Collectionism	Excessive or pathological tendency to save and collect possessions.
HP:0030213	Emotional blunting	Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.
HP:0030214	Hypersexuality	Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.
HP:0030215	Inappropriate crying	Uncontrolled episodes of crying, without apparent motivating stimuli.
HP:0030216	Inertia	Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).
HP:0030217	Limb apraxia	Difficulty in performing the correct execution of limbs movements in absence of motor impairment.
HP:0030218	Punding	Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.
HP:0030219	Semantic dementia	A progressive loss of the ability to remember the meaning of words, faces and objects.
HP:0030220	Socially inappropriate behavior	Behavior that is not in line with social norms.
HP:0030221	Sweet craving	Excessive desire to eat sweet foods.
HP:0030222	Visual agnosia	Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.
HP:0030223	Manifestations of perseverative thought or action	Results from continuous and inappropriate maintenance of a current set, framework, or behavior.
HP:0030224	Abnormal muscle fiber desmin	A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.
HP:0030225	Accumulation of muscle fiber desmin	Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.
HP:0030226	Abnormal muscle fiber myotilin	A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.
HP:0030227	Accumulation of muscle fiber myotilin	Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.
HP:0030228	Abnormal muscle fiber valosin-containing protein	A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.
HP:0030229	Accumulation of muscle fiber valosin-containing protein	Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.
HP:0030230	Central core regions in muscle fibers	The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.
HP:0030231	Glycogen accumulation in muscle fiber lysosomes	An increased amount of glycogen in muscle tissue found specifically in lysosomes.
HP:0030232	Increased sarcoplasmic glycogen	Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.
HP:0030233	Bethlem sign	Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.
HP:0030234	Highly elevated creatine kinase	An increased CPK level between 4X and 50X above the upper normal level.
HP:0030235	Extremely elevated creatine kinase	An increased creatine kinase level more than 50X above the upper normal level.
HP:0030236	Abnormality of muscle size	Abnormalities of the overall muscle bulk based on clinical observation.
HP:0030237	Hand muscle weakness	Reduced strength of the musculature of the hand.
HP:0030239	Hypoplasia of the upper arm musculature	Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.
HP:0030241	Hypoplasia of deltoid muscle	Underdevelopment of the deltoid muscle.
HP:0030242	Portal vein thrombosis	Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.
HP:0030243	Hepatic vein thrombosis	An obstruction in the veins of the liver caused by a blood clot (thrombosis).
HP:0030244	Maternal fever in pregnancy	The occurence of an elevated body temperature of the mother during pregnancy.
HP:0030245	Intrapartum fever	The occurence of maternal fever during labor.
HP:0030246	Maternal first trimester fever	The occurence of fever in a mother during the first trimester of pregnancy.
HP:0030247	Splanchnic vein thrombosis	The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).
HP:0030248	Mesenteric venous thrombosis	A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).
HP:0030249	Enanthema	A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.
HP:0030250	Pulmonary granulomatosis	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.
HP:0030251	Absence of memory B cells	Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.
HP:0030252	Absent circulating B cells	Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
HP:0030253	Defective T cell proliferation	A reduced ability of a T cell population to expand by cell division following T cell activation.
HP:0030254	Nail bed hemorrhage	Small areas of bleeding (hemorrhage) under the fingernail or toenail.
HP:0030255	Large intestinal polyposis	The presence of multiple polyps in the large intestine.
HP:0030256	Small intestinal polyposis	The presence of multiple polyps in the small intestine.
HP:0030257	Freckled genitalia	One or more brown punctate macules on the skin of the genitalia.
HP:0030258	Hyperpigmented genitalia	Localized or generalized increased genital pigmentation.
HP:0030259	Hypopigmented genitalia	Localized or generalized decreased genital pigmentation.
HP:0030260	Microphallus	Length of penis more than 2 SD below the mean for age accompanied by hypospadias.
HP:0030261	Absent penis	Lack of recognizable penile structures.
HP:0030262	Narrow penis	Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.
HP:0030263	Torsion of the penis	Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.
HP:0030264	Webbed penis	Ventral skinfold extending from penis to scrotum.
HP:0030265	Wide penis	Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.
HP:0030267	Calcification of the interosseus membrane of the forearm	Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.
HP:0030268	Hyperplastic callus formation	Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.
HP:0030269	Increased circulating insulin-like growth factor 1 concentration	An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.
HP:0030270	Elevated red cell adenosine deaminase level	Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.
HP:0030271	Reduced erythrocyte 2,3-diphosphoglycerate concentration	This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.
HP:0030272	Abnormal erythrocyte enzyme level	An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.
HP:0030273	Reduced red cell adenosine deaminase level	Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.
HP:0030274	Accessory scrotum	Additional scrotum, or part of a scrotum in an abnormal location.
HP:0030275	Ectopic scrotum	Scrotum in a position other than the usual position inferior to the base of the penis.
HP:0030277	Abnormal vertebral pedicle morphology	Abnormal morphology of a vertebral pedical.
HP:0030278	Hypoplastic vertebral pedicle	Underdeveloped vertebral pedicle.
HP:0030279	Hypoplastic L5 vertebral pedicle	Underdeveloped pedicle of the fifth lumbar vertebra.
HP:0030280	Rib gap	Radiolucent focal defect of a rib shaft.
HP:0030281	Cervical C3/C4 vertebral fusion	Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.
HP:0030282	Posterior rib gap	Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.
HP:0030283	Partial absence of the septum pellucidum	Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.
HP:0030284	Triangular tongue	A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.
HP:0030285	Splayed superior cerebellar peduncle	Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.
HP:0030286	Atrophic superior cerebellar peduncle	Atrophy of the superior cerebellar peduncle.
HP:0030289	Flattened femoral epiphysis	An abnormal flattening of an epiphysis of femur.
HP:0030290	Unossified sacrum	Lack of ossification of the sacrum.
HP:0030291	Lower-limb metaphyseal irregularity	Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.
HP:0030292	Tibial metaphyseal irregularity	Irregularity of the normally smooth surface of a metaphysis of a tibia.
HP:0030293	Fibular metaphyseal irregularity	Irregularity of the normally smooth surface of a metaphysis of a fibula.
HP:0030294	Metaphyseal chondromatosis of tibia	
HP:0030295	Metaphyseal chondromatosis of femur	
HP:0030296	Metaphyseal chondromatosis of radius	
HP:0030297	Metaphyseal chondromatosis of ulna	
HP:0030298	Metaphyseal chondromatosis of humerus	
HP:0030299	Distal femoral metaphyseal abnormality	An anomaly of the metaphysis of the distal femur (close to the knee).
HP:0030300	10 pairs of ribs	Presence of only 10 (instead of the usual 12) pairs of ribs.
HP:0030301	Abnormality of the anterior commissure	An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.
HP:0030302	Agenesis of the anterior commissure	Absence of the anterior commissure.
HP:0030303	Hypoplastic anterior commissure	Underdevelopment of the anterior commissure.
HP:0030304	Abnormal number of vertebrae	A deviation from the normal number of vertebrae in the spinal column.
HP:0030305	Decreased number of vertebrae	
HP:0030306	11 thoracic vertebrae	The presence of 11 instead of the normal 12 thoracic vertebrae.
HP:0030307	Flared lower limb metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.
HP:0030308	Flared distal tibial metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.
HP:0030309	Flared distal fibular metaphysis	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.
HP:0030310	Upper extremity joint dislocation	Displacement or malalignment of one or more joints in the upper extremity (arm).
HP:0030311	Lower extremity joint dislocation	Displacement or malalignment of one or more joints in the lower extremity (leg).
HP:0030312	Obliteration of the calvarial diploe	Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).
HP:0030313	Abnormal periosteum morphology	An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.
HP:0030314	Periostosis	Abnormal deposition of periosteal bone.
HP:0030318	Angular cheilitis	A type of inflammation of the lips involving one or both of the corners of the mouth.
HP:0030319	Weakness of facial musculature	Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0030320	Increased intervertebral space	An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.
HP:0030321	Abnormal vertebral artery morphology	An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.
HP:0030322	Vertebral artery hypoplasia	Underdevelopment of the vertebral artery.
HP:0030323	Unilateral vertebral artery hypoplasia	Underdevelopment of the vertebral artery on one side.
HP:0030324	Bilateral vertebral artery hypoplasia	Underdevelopment of the vertebral artery on both sides.
HP:0030325	Cervicomedullary schisis	Fissure within the spinal cord of the neck.
HP:0030326	Abnormal macrophage count	An anomaly in the number of macrophages.
HP:0030327	Abnormal osteoclast count	An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.
HP:0030328	Decreased osteoclast count	Decreased number of osteoclasts in bone tissue.
HP:0030329	Retinal thinning	Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).
HP:0030330	Multinucleated giant chondrocytes in epiphyseal cartilage	The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.
HP:0030331	Impaired stimulus-induced skin wrinkling	A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).
HP:0030333	Abnormal alpha-beta T cell morphology	A structuraly anomaly of T cells that express an alpha-beta T cell receptor.
HP:0030334	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology	A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.
HP:0030335	Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count	A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.
HP:0030336	Absence of CD4-positive, CD25-positive regulatory T cells	Lack of CD4+CD25+ T regulatory cells.
HP:0030337	Elevated CD4-positive, CD25-positive regulatory T cell count	An increased number of CD4-positive, CD25-positive regulatory T cells.
HP:0030338	Abnormal circulating gonadotropin concentration	An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
HP:0030339	Decreased circulating gonadotropin concentration	A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
HP:0030341	Decreased circulating follicle stimulating hormone concentration	A reduction of the circulating level of follicle-stimulating hormone (FSH).
HP:0030344	Decreased circulating luteinizing hormone level	A reduction in the circulating level of luteinizing hormone (LH).
HP:0030345	Abnormal circulating luteinizing hormone concentration	An anomaly of the circulating level of luteinizing hormone (LH).
HP:0030346	Abnormal circulating follicle-stimulating hormone concentration	An anomaly of the circulating level of follicle-stimulating hormone (FSH).
HP:0030347	Abnormal circulating androgen level	An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
HP:0030348	Increased circulating androgen concentration	An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
HP:0030349	Decreased circulating androgen concentration	A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
HP:0030350	Erythematous papule	A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.
HP:0030351	Urticarial plaque	A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.
HP:0030352	Abnormal serum insulin-like growth factor 1 level	An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.
HP:0030353	Decreased serum insulin-like growth factor 1	A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
HP:0030354	Abnormal circulating interferon concentration	Abnormal levels of interferon in the blood.
HP:0030355	Abnormal circulating interferon-gamma concentration	Abnormal levels of interferon gamma measured in the blood circulation.
HP:0030356	Increased circulating interferon-gamma concentration	An elevation in the concentration of interferon gamma measured in the blood circulation.
HP:0030357	Small cell lung carcinoma	Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.
HP:0030358	Non-small cell lung carcinoma	
HP:0030359	Squamous cell lung carcinoma	A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.
HP:0030360	Large cell lung carcinoma	A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.
HP:0030361	Abnormal circulating eicosanoid concentration	Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).
HP:0030362	Reduced muscle carnitine level	A reduction in the level of carnitine in muscle tissue.
HP:0030363	Primary Caesarian section	Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.
HP:0030364	Secondary Caesarian section	Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.
HP:0030365	Vaginal birth after Caesarian	Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.
HP:0030366	Delivery by Odon device	The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.
HP:0030367	Finger hyperphalangy	Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.
HP:0030368	Hyperphalangy of the 2nd finger	An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.
HP:0030369	Induced vaginal delivery	Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.
HP:0030370	Abnormal proportion of naive B cells	A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.
HP:0030371	Increased proportion of naive B cells	An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.
HP:0030372	Decreased proportion of naive B cells	A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.
HP:0030373	Abnormal proportion of memory B cells	A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
HP:0030374	Decreased proportion of memory B cells	A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
HP:0030375	Increased proportion of memory B cells	An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
HP:0030376	Abnormal proportion of immature B cells	A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).
HP:0030377	Increased proportion of immature B cells	An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).
HP:0030378	Decreased proportion of immature B cells	A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).
HP:0030379	Abnormal proportion of transitional B cells	A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
HP:0030380	Decreased proportion of transitional B cells	A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
HP:0030381	Increased proportion of transitional B cells	An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
HP:0030383	Abnormal proportion of marginal zone B cells	A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.
HP:0030384	Decreased proportion of marginal zone B cells	A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.
HP:0030385	Increased proportion of marginal zone B cells	An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.
HP:0030386	Abnormal proportion of class-switched memory B cells	A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
HP:0030387	Increased proportion of class-switched memory B cells	An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
HP:0030388	Decreased proportion of class-switched memory B cells	A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
HP:0030389	Abnormal circulating thromboxane concentration	Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.
HP:0030390	Reduced circulating leukotriene C4 concentration	An abnormally decreased concentration of leukotriene C4 in the blood circulation.
HP:0030391	Spoken word recognition deficit	Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.
HP:0030392	Choroid plexus carcinoma	Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.
HP:0030393	Endolymphatic sac tumor	A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).
HP:0030394	Fallopian tube carcinoma	Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.
HP:0030396	Abnormal platelet granule secretion	Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.
HP:0030397	Abnormal platelet dense granule secretion	Abnormal release of dense granules from platelets.
HP:0030398	Abnormal platelet ATP dense granule secretion	Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).
HP:0030399	Abnormal platelet alpha granule secretion	Abnormal release of alpha granule contents from platelets.
HP:0030400	Abnormal platelet lysosome secretion	Abnormal release of lysosome contents from platelets.
HP:0030401	Abnormal platelet dense granule ATP/ADP ratio	Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.
HP:0030402	Abnormal platelet aggregation	An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
HP:0030403	Spontaneous platelet aggregation	Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.
HP:0030404	Glucagonoma	An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.
HP:0030405	Pancreatic endocrine tumor	A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.
HP:0030406	Primary peritoneal carcinoma	A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.
HP:0030407	Pineocytoma	A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumor (WHO grade I).
HP:0030408	Pineoblastoma	Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.
HP:0030409	Renal transitional cell carcinoma	A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.
HP:0030410	Sebaceous gland carcinoma	A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)
HP:0030411	Jejunal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the jejunum.
HP:0030412	Ileal adenocarcinoma	A malignant epithelial tumor with a glandular organization that originates in the ileum.
HP:0030413	Squamous cell carcinoma of the tongue	A carcinoma derived from a squamous epithelial cell of the tongue.
HP:0030414	Verrucous cell carcinoma of the tongue	A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.
HP:0030415	Sarcomatoid carcinoma of the tongue	Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.
HP:0030416	Vulvar neoplasm	A tumor (abnormal growth of tissue) of the female external genital tract (vulva).
HP:0030417	Squamous cell carcinoma of the vulva	A cancer that originates in the squamous cells that line the surface of the vulva.
HP:0030418	Vulvar melanoma	A type of vulvar cancer that originates from melanocytes of the vulva.
HP:0030419	Bartholin gland carcinoma	A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.
HP:0030420	Vulvar adenocarcinoma	An adenocarcinoma arising in the vulva.
HP:0030421	Epididymal neoplasm	A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.
HP:0030423	Splenic cyst	A closed sac located in the spleen.
HP:0030424	Epididymal cyst	A smooth, extratesticular, spherical cyst in the head of the epididymis.
HP:0030425	Calcified ovarian cyst	A cyst of the ovary that exhibits deposition of calcium salts.
HP:0030426	Ossifying fibroma	A benign central bone tumor composed of fibrous connective tissue within which bone is formed.
HP:0030427	Ossifying fibroma of the jaw	A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.
HP:0030428	Cutaneous myxoma	A myxoma originating in the skin.
HP:0030429	Juvenile nasopharyngeal angiofibroma	A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.
HP:0030430	Neuroma	A tumor made up of nerve cells and nerve fibers.
HP:0030431	Osteochondroma	A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
HP:0030432	Chondroblastoma	A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.
HP:0030433	Osteoid osteoma	A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.
HP:0030434	Pilomatrixoma	Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.
HP:0030436	Fibrofolliculoma	Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
HP:0030437	Anal canal neoplasm	
HP:0030438	Anal canal squamous cell carcinoma	A squamous cell carcinoma that originates in the anal canal.
HP:0030439	Anal canal adenocarcinoma	An adenoma carcinoma that originates in the anal canal.
HP:0030440	Anal margin neoplasm	A tumor of the anal margin.
HP:0030441	Anal margin Paget's disease	An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.
HP:0030442	Anal margin squamous cell carcinoma	A squamous cell carcinoma that originates in the skin of the anal margin.
HP:0030443	Anal margin basal cell carcinoma	A basal cell carcinoma that originates in the anal margin.
HP:0030444	Anal margin melanoma	A melanoma that originates in the anal margin.
HP:0030445	Pulmonary carcinoid tumor	A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.
HP:0030446	Atypical pulmonary carcinoid tumor	
HP:0030447	Merkel cell skin cancer	A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.
HP:0030448	Soft tissue sarcoma	A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.
HP:0030449	Therapeutic abortion	Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.
HP:0030450	Neoplasm of the autonomic nervous system	A tumor that arises from an element of the autonomic nervous system.
HP:0030451	Mesenteric cyst	A closed fluid filled sac originating from the mesentary.
HP:0030452	Chylolymphatic mesenteric cyst	A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.
HP:0030453	Abnormal visual electrophysiology	
HP:0030454	Abnormal electrooculogram	The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.
HP:0030455	Abnormality of pattern visual evoked potentials	
HP:0030456	Abnormality of pattern onset/offset visual evoked potentials	
HP:0030457	Abnormal amplitude of pattern onset/offset visual evoked potentials	
HP:0030458	Abnormal timing of pattern onset/offset visual evoked potentials	
HP:0030460	Abnormal timing of pattern reversal visual evoked potentials	
HP:0030461	Abnormal timing of flash visual evoked potentials	
HP:0030462	Abnormal amplitude of flash visual evoked potentials	
HP:0030463	Asymmetrical distribution of flash visual evoked potentials	
HP:0030464	Asymmetrical distribution of pattern reversal visual evoked potentials	
HP:0030465	Undetectable light-adapted electroretinogram	No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.
HP:0030466	Abnormal full-field electroretinogram	
HP:0030467	Abnormal pattern electroretinogram	An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.
HP:0030468	Abnormal multifocal electroretinogram	
HP:0030469	Abnormal dark-adapted electroretinogram	
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	
HP:0030471	Abnormal dark-adapted dim flash electroretinogram	
HP:0030472	Abnormal light-adapted single flash electroretinogram	
HP:0030473	Abnormal light-adapted flicker electroretinogram	
HP:0030474	Undetectable dark-adapted electroretinogram	
HP:0030475	Abnormal timing of dark-adapted dim flash electroretinogram	
HP:0030476	Abnormal amplitude of dark-adapted dim flash electroretinogram	
HP:0030477	Abnormal timing of dark-adapted bright flash electroretinogram	
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	
HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	
HP:0030480	Abnormal timing of light-adapted flicker electroretinogram	
HP:0030481	Abnormal amplitude of light-adapted single flash electroretinogram	
HP:0030482	Abnormal timing of light-adapted single flash electroretinogram	
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	An abnormal reduction in the amplitude of the a-wave.
HP:0030484	Supernormal dark-adapted bright flash electroretinogram b-wave	
HP:0030485	Abnormal amplitude of pattern electroretinogram	
HP:0030486	Abnormal timing of pattern electroretinogram	
HP:0030487	Abnormal P50/N95 ratio of pattern electroretinogram	
HP:0030488	Abnormal central response of multifocal electroretinogram	
HP:0030489	Abnormal paracentral response of multifocal electroretinogram	
HP:0030490	Exudative vitreoretinopathy	
HP:0030491	Choriocapillaris atrophy	Atrophy of the capillary lamina of choroid.
HP:0030493	Abnormality of foveal pigmentation	An anomaly of the pigmentation in the fovea centralis.
HP:0030494	Macular microaneurysm/hemorrhage	Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).
HP:0030495	Abnormality morphology of the macular vasculature	Any structural anomaly of the blood vessels of the macula.
HP:0030496	Macular exudate	Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.
HP:0030497	Macular cotton wool spot	Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.
HP:0030498	Macular thickening	Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.
HP:0030499	Macular drusen	Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.
HP:0030500	Yellow/white lesions of the macula	
HP:0030501	Macular crystals	Crystalline deposits in the macula.
HP:0030502	Retinoschisis	Splitting of the neuroretinal layers of the retina.
HP:0030503	Macular telangiectasia	
HP:0030504	Grouped congenital hypertrophy of retinal pigment epithelium	
HP:0030505	Nummular pigmentation of the fundus	Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.
HP:0030506	Yellow/white lesions of the retina	
HP:0030507	Retinal crystals	Crystalline deposits in the retina.
HP:0030508	Retinal cavernous hemangioma	
HP:0030509	Retinal racemose hemangioma	
HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	
HP:0030511	Bradyopsia	Difficulty in seeing moving objects.
HP:0030512	Difficulty adjusting to changes in luminance	
HP:0030513	Difficulty adjusting from light to dark	
HP:0030514	Difficulty adjusting from dark to light	
HP:0030515	Moderately reduced visual acuity	Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).
HP:0030516	Homonymous hemianopia	
HP:0030517	Heteronymous hemianopia	
HP:0030518	Congruous homonymous hemianopia	
HP:0030519	Congruous heteronymous hemianopia	
HP:0030520	Binasal hemianopia	
HP:0030521	Bitemporal hemianopia	
HP:0030522	Mild constriction of peripheral visual field	A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.
HP:0030525	Moderate constriction of peripheral visual field	Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.
HP:0030526	Severe constriction of peripheral visual field	Peripheral visual field constriction with 10-19 degrees central field preserved.
HP:0030527	Very severe constriction of peripheral visual field	Peripheral visual field constriction with <10 degrees central field preserved.
HP:0030528	Paracentral scotoma	
HP:0030529	Ring scotoma	An annular field defect centered on fixation.
HP:0030530	Arcuate scotoma	
HP:0030531	Altitudinal visual field defect	
HP:0030532	Visual acuity test abnormality	
HP:0030533	Abnormal unaided visual acuity test	
HP:0030534	Abnormal best corrected visual acuity test	
HP:0030535	Abnormal pinhole visual acuity test	
HP:0030536	Unaided visual acuity 0.1 LogMAR	
HP:0030537	Unaided visual acuity 0.2 LogMAR	
HP:0030538	Unaided visual acuity 0.3 LogMAR	
HP:0030539	Unaided visual acuity 0.4 LogMAR	
HP:0030540	Unaided visual acuity 0.5 LogMAR	
HP:0030541	Unaided visual acuity 0.6 LogMAR	
HP:0030542	Unaided visual acuity 0.7 LogMAR	
HP:0030543	Unaided visual acuity 0.8 LogMAR	
HP:0030544	Unaided visual acuity 0.9 LogMAR	
HP:0030545	Unaided visual acuity 1.0 LogMAR	
HP:0030546	Unaided visual acuity 1.1 LogMAR	
HP:0030547	Unaided visual acuity 1.2 LogMAR	
HP:0030548	Unaided visual acuity 1.3 LogMAR	
HP:0030549	Unaided visual acuity 2.0 LogMAR	
HP:0030550	Unaided visual acuity 3.0 LogMAR	
HP:0030551	Visual acuity light perception with projection	
HP:0030552	Visual acuity light perception without projection	
HP:0030553	Visual acuity no light perception	
HP:0030554	Best corrected visual acuity 0.1 LogMAR	
HP:0030555	Best corrected visual acuity 0.2 LogMAR	
HP:0030556	Best corrected visual acuity 0.3 LogMAR	
HP:0030557	Best corrected visual acuity 0.4 LogMAR	
HP:0030558	Best corrected visual acuity 0.5 LogMAR	
HP:0030559	Best corrected visual acuity 0.7 LogMAR	
HP:0030560	Best corrected visual acuity 0.6 LogMAR	
HP:0030561	Best corrected visual acuity 0.8 LogMAR	
HP:0030562	Best corrected visual acuity 0.9 LogMAR	
HP:0030563	Best corrected visual acuity 1.0 LogMAR	
HP:0030564	Best corrected visual acuity 1.1 LogMAR	
HP:0030565	Best corrected visual acuity 1.2 LogMAR	
HP:0030566	Best corrected visual acuity 1.3 LogMAR	
HP:0030567	Best corrected visual acuity 2.0 LogMAR	
HP:0030568	Best corrected visual acuity 3.0 LogMAR	
HP:0030569	Pinhole visual acuity 0.1 LogMAR	
HP:0030570	Pinhole visual acuity 0.2 LogMAR	
HP:0030571	Pinhole visual acuity 0.3 LogMAR	
HP:0030572	Pinhole visual acuity 0.4 LogMAR	
HP:0030573	Pinhole visual acuity 0.5 LogMAR	
HP:0030574	Pinhole visual acuity 0.6 LogMAR	
HP:0030575	Pinhole visual acuity 0.7 LogMAR	
HP:0030576	Pinhole visual acuity 0.8 LogMAR	
HP:0030577	Pinhole visual acuity 0.9 LogMAR	
HP:0030578	Pinhole visual acuity 1.0 LogMAR	
HP:0030579	Pinhole visual acuity 1.1 LogMAR	
HP:0030580	Pinhole visual acuity 1.2 LogMAR	
HP:0030581	Pinhole visual acuity 1.3 LogMAR	
HP:0030582	Pinhole visual acuity 2.0 LogMAR	
HP:0030583	Pinhole visual acuity 3.0 LogMAR	
HP:0030584	Color vision test abnormality	
HP:0030585	Red desaturation	
HP:0030586	Abnormal Ishihara plate test	
HP:0030587	Abnormal Hardy-Rand-Rittler plate test	
HP:0030588	Abnormal visual field test	Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.
HP:0030589	Abnormal confrontational visual field test	
HP:0030590	Abnormal Amsler grid test	
HP:0030591	Abnormal kinetic perimetry test	
HP:0030592	Abnormal static perimetry test	
HP:0030593	Abnormal manual kinetic perimetry test	
HP:0030594	Abnormal automated kinetic perimetry test	
HP:0030595	Abnormal static automated perimetry test	
HP:0030596	Abnormal Humphrey SITA 30-2 perimetry test	
HP:0030597	Abnormal Humphrey SITA 24-2 perimetry test	
HP:0030598	Abnormal Humphrey SITA 10-2 perimetry test	
HP:0030599	Abnormal Esterman grid perimetry test	The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.
HP:0030601	Abnormal posterior segment imaging	
HP:0030602	Abnormal fundus autofluorescence imaging	Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.
HP:0030603	Abnormal optical coherence tomography	
HP:0030604	Abnormal fundus fluorescein angiography	An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.
HP:0030605	Abnormal indocyanine green angiography	
HP:0030606	Abnormal OCT-measured macular thickness	
HP:0030607	Reduced OCT-measured macular thickness	
HP:0030608	Increased OCT-measured macular thickness	
HP:0030609	Photoreceptor layer loss on macular OCT	Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.
HP:0030610	Photoreceptor outer segment loss on macular OCT	
HP:0030611	Retinal pigment epithelial loss on macular OCT	
HP:0030612	Abnormal retinal morphology on macular OCT	
HP:0030613	Abnormal foveal morphology on macular OCT	
HP:0030614	Foveal photoreceptor layer loss on macular OCT	
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	
HP:0030616	Foveal retinal pigment epithelial loss on macular OCT	
HP:0030617	Abnormal OCT-measured foveal thickness	
HP:0030618	Increased OCT-measured foveal thickness	
HP:0030619	Reduced OCT-measured foveal thickness	
HP:0030620	Inner retinal layer loss on macular OCT	
HP:0030621	Foveal inner retinal layer loss on macular OCT	
HP:0030622	Abnormal foveal pit on macular OCT	
HP:0030623	Intraretinal hyporeflective spaces on macular OCT	
HP:0030624	Subretinal hyporeflective spaces on macular OCT	
HP:0030625	Hyporeflective spaces on macular OCT	
HP:0030626	Foveal intraretinal hyporeflective spaces on macular OCT	
HP:0030627	Foveal hyporeflective spaces on macular OCT	
HP:0030628	Foveal subretinal hyporeflective spaces on macular OCT	
HP:0030629	Perifoveal ring of hyperautofluorescence	
HP:0030630	Irregular central macular autofluorescence	
HP:0030631	Hyperautofluorescent macular lesion	Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
HP:0030632	Hypoautofluorescent macular lesion	Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
HP:0030633	Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence	
HP:0030634	Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence	
HP:0030635	Retinal dystrophy with early macular involvement	
HP:0030636	Occult macular dystrophy	Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.
HP:0030637	Congenital stationary cone dysfunction	Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.
HP:0030638	Congenital stationary night blindness with normal fundus	
HP:0030639	Congenital stationary night blindness with abnormal fundus	
HP:0030640	Complete congenital stationary night blindness	
HP:0030641	Incomplete congenital stationary night blindness	
HP:0030642	Fundus albipunctatus	
HP:0030643	Vitelliform-like retinal lesions	
HP:0030644	Blind-spot enlargment	
HP:0030645	Central	Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.
HP:0030646	Peripheral	
HP:0030647	Paracentral	
HP:0030648	Midperipheral	
HP:0030649	Pericentral	
HP:0030650	Focal	
HP:0030651	Multifocal	
HP:0030652	Vitreous haze	Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.
HP:0030654	Umbilical cord cyst	Any cystic lesion associated with the umbilical cord.
HP:0030655	Umbilical cord knot	An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.
HP:0030656	Umbilical vein varix	Focal dilation of the umbilical vein.
HP:0030657	Umbilical cord hematoma	Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.
HP:0030658	Marginal umbilical cord insertion	Insertion of the umbilical cord within 2 cm from the placental edge.
HP:0030659	Velamentous cord insertion	Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.
HP:0030660	Furcate cord insertion	Branching of the umbilical cord before its insertion into the placenta.
HP:0030661	Vitreous snowballs	Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.
HP:0030662	Vitreous inflammatory cells	The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.
HP:0030663	Optically empty vitreous	Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.
HP:0030664	Beevor's sign	Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.
HP:0030665	Rubral tremor	Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.
HP:0030666	Retinal neovascularization	In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.
HP:0030667	Peripheral retinal neovascularization	A type of retinal neovascularization that affects the periphery of the retina.
HP:0030668	Periorbital dermoid cyst	A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.
HP:0030669	Abnormal ocular adnexa morphology	A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
HP:0030670	Hamartoma of the orbital region	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.
HP:0030671	Abnormal common tendinous ring morphology	Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.
HP:0030672	Asteroid hyalosis	The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.
HP:0030673	Erosive vitreoretinopathy	A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.
HP:0030674	Antenatal onset	Onset prior to birth.
HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.
HP:0030676	Satyr ear	Sharp pointed superior portion of the ear, with variable overfolding of the helix.
HP:0030677	Mozart ear	A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.
HP:0030679	Ash-leaf spot	A hypopigmented spot in the shape of a leaf from the mountain ash tree.
HP:0030680	Abnormality of cardiovascular system morphology	Any structural anomaly of the heart and great vessels.
HP:0030681	Abnormal morphology of myocardial trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).
HP:0030682	Left ventricular noncompaction	Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.
HP:0030683	Vaginitis	Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.
HP:0030684	Abnormal adiponectin level	A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.
HP:0030685	Decreased adiponectin level	A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
HP:0030686	Increased adiponectin level	An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
HP:0030687	Abnormal glucagon level	A deviation from the normal concentration of glucagon in the blood circulation.
HP:0030688	Increased glucagon level	An elevated concentration of glucagon in the blood circulation.
HP:0030689	Decreased glucagon level	A reduced concentration of glucagon in the blood circulation.
HP:0030690	Gingival cleft	A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.
HP:0030691	Divergence nystagmus	A condition in which both eyes beat outward simultaneously.
HP:0030692	Brain neoplasm	A benign or malignant neoplasm that arises from or metastasizes to the brain.
HP:0030693	Supratentorial neoplasm	A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.
HP:0030694	Pineal parenchymal cell neoplasm	
HP:0030706	Ranula	A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.
HP:0030707	Unilateral lung agenesis	Lack of development of one lung.
HP:0030708	Myeloschisis	The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.
HP:0030709	Myelocystocele	Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.
HP:0030710	Lipomeningocele	A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.
HP:0030711	Hydrocolpos	Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.
HP:0030712	Uterine synechiae	Adhesions or scar tissue that form inside the cavity of the uterus.
HP:0030713	Vein of Galen aneurysmal malformation	Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.
HP:0030714	Subchorionic thrombohematoma	A large maternal clot that separates the chorionic plate from the villous chorion.
HP:0030715	Bronchial atresia	A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.
HP:0030716	Acrania	Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.
HP:0030717	Meconium peritonitis	Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.
HP:0030718	Right atrial enlargement	Increase in size of the right atrium.
HP:0030719	Unguarded tricuspid valve	A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.
HP:0030720	Subchorionic septal cyst	Cyst on the surface of the placenta consisting of amnion and chorion.
HP:0030721	Tetraphocomelia	Phocomelia involving all four extremities.
HP:0030722	Ectopic liver	Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.
HP:0030723	Congenital megalourethra	Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.
HP:0030724	Central nervous system cyst	A fluid-filled sac (cyst) located within the central nervous system.
HP:0030725	Neurenteric cyst	The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.
HP:0030726	Spinal neurenteric cyst	A neurenteric cyst located in the spine.
HP:0030727	Intracranial neurenteric cyst	A neurenteric cyst located within the skull.
HP:0030728	Meromelia	Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.
HP:0030729	Frontoethmoidal meningocele	A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.
HP:0030730	Parietal meningocele	A herniation of meninges through a congenital bone defect in the skull in the parietal region.
HP:0030731	Carcinoma	A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
HP:0030732	Dysplastic tricuspid valve	A congenital malformation of the tricuspid valve characterized by leaflet deformation.
HP:0030733	Vesicoallantoic abdominal wall defect	An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.
HP:0030735	Ureterovesical junction obstruction	Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.
HP:0030736	Sacrococcygeal teratoma	A teratoma arising in the sacro-coccygeal region.
HP:0030737	Altman type I sacrococcygeal teratoma	A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.
HP:0030738	Altman type II sacrococcygeal teratoma	A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.
HP:0030739	Altman type III sacrococcygeal teratoma	A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.
HP:0030740	Anomalous muscle bundle of the right ventricle	An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.
HP:0030741	Mediastinal teratoma	A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).
HP:0030742	Glial remnants posterior to lens	This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.
HP:0030743	Glial remnants anterior to the optic disc	Persistance of a posterior remnant of the hyaloid artery located at the optic disc.
HP:0030744	Hyaloid vascular remnant and retrolental mass	A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.
HP:0030745	Dilatation of the ductus arteriosus	Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.
HP:0030746	Intraventricular hemorrhage	Bleeding into the ventricles of the brain.
HP:0030747	Preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a premature infant.
HP:0030748	Grade I preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.
HP:0030749	Grade II preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.
HP:0030750	Grade III preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.
HP:0030751	Grade IV preterm intraventricular hemorrhage	Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.
HP:0030752	Dacryocystocele	A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.
HP:0030753	Intrauterine fetal demise of one twin after midgestation	Loss of one twin occurring after midgestation (17 weeks gestation).
HP:0030754	Allantoic cyst	A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.
HP:0030755	Craniofacial teratoma	A teratoma located in the craniofacial region.
HP:0030756	Erythrodontia	Reddish, brown opalescent discoloration of teeth in normal light.
HP:0030757	Tooth abscess	A pocket of pus located within a region of a tooth.
HP:0030758	Periapical tooth abscess	A tooth abscess that occurs at the tip of the root (apex) of a tooth.
HP:0030759	Adipocyte hypertrophy	An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.
HP:0030760	Renal fibrosis	Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.
HP:0030762	Mesangiolysis	Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.
HP:0030763	Amniotic Sheet	A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.
HP:0030764	Ochronosis	Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.
HP:0030765	Sleep terror	Episodes of intense fear, screaming and flailing although affected individuals are still asleep.
HP:0030766	Ear pain	Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).
HP:0030767	Epignathus	Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.
HP:0030769	Exencephaly	A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.
HP:0030770	Craniorachischisis	A neural tube defect in which both the brain and spinal cord remain open to varying degrees.
HP:0030771	Mallet finger	Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.
HP:0030772	Proximal femoral focal deficiency	Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.
HP:0030773	Internuclear ophthalmoplegia	An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.
HP:0030774	Mitochondrial swelling	The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.
HP:0030775	Modic type vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.
HP:0030776	Modic type I vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.
HP:0030777	Modic type II vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.
HP:0030778	Modic type III vertebral endplate changes	An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.
HP:0030779	Ethmocephaly	Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.
HP:0030780	Abnormality of the protein C anticoagulant pathway	An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.
HP:0030781	Increased circulating free fatty acid level	A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.
HP:0030782	Abnormal circulating interleukin concentration	An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.
HP:0030783	Increased circulating interleukin 6 concentration	An increased concentration of interleukin-6 in the blood circulation.
HP:0030784	Anomic aphasia	An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.
HP:0030785	Mediastinal cystic lymphangioma	A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.
HP:0030786	Photopsia	Perceived flashes of light.
HP:0030787	Cerumen abnormality	Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.
HP:0030788	Impacted cerumen	Blockage of the external auditory canal by a buildup of earwax.
HP:0030789	Excessive cerumen	An increased quantity of earwax.
HP:0030790	Abnormal cerumen color	An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.
HP:0030791	Abnormal jaw morphology	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.
HP:0030792	Jaw neoplasm	A tumor originating in the jaw (mandible or maxilla).
HP:0030793	Jaw swelling	Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).
HP:0030794	Abnormal circulating C-peptide concentration	An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.
HP:0030795	Reduced C-peptide level	A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.
HP:0030796	Increased C-peptide level	An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.
HP:0030797	Reduced volume of central subdivision of bed nucleus of stria terminalis	A diminished volume of the central part of the bed nucleus of the stria terminalis.
HP:0030798	Abnormality of the bed nucleus of stria terminalis	The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.
HP:0030799	Scaphocephaly	Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
HP:0030800	Abnormal visual accommodation	An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.
HP:0030801	Reduced visual accommodation	A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.
HP:0030802	Lower eyelid retraction	Inferior malposition of the lower eyelid margin without eyelid eversion.
HP:0030803	Platonychia	Abnormal flat nail.
HP:0030804	Trachyonychia	Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.
HP:0030805	Absent lunula	Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.
HP:0030806	Fast-growing nails	Nails whose growth is quicker than normal.
HP:0030807	Abnormal nail growth	Nail whose growth pattern or speed deviates from normal.
HP:0030808	Ragged cuticle	The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.
HP:0030809	Abnormal tongue morphology	Any structural anomaly of the tongue.
HP:0030810	Abnormal tongue physiology	Any functional anomaly of the tongue.
HP:0030811	Tongue pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.
HP:0030812	Enlarged tonsils	Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.
HP:0030813	Absent tonsils	Lack of observable tonsillar tissue.
HP:0030814	Orange discolored tonsils	A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.
HP:0030815	Lipoma of the tongue	A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.
HP:0030816	Gingival recession	The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.
HP:0030817	Beaked nails	Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.
HP:0030818	Central nail canal	The presence of a depressed line ("canal") in the center of the nail.
HP:0030819	Ski jump nail	Nails that slope upward at the free edge.
HP:0030820	Hooded eyelid	Eyelid partly covered by skin when eyes are open.
HP:0030821	Hooded lower eyelid	Lower eyelid partly covered by skin when eyes are open.
HP:0030822	Hooded upper eyelid	Upper eyelid partly covered by skin when eyes are open.
HP:0030823	Scleral thickening	Increased dimension of the sclera in the anterior-posterior axis.
HP:0030824	Mizuo phenomenon	Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].
HP:0030825	Absent foveal reflex	Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
HP:0030826	Eyelid fasciculation	Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.
HP:0030828	Wheezing	A high-pitched whistling sound associated with labored breathing.
HP:0030829	Abnormal breath sound	An anomalous (adventitious) sound produced by the breathing process.
HP:0030830	Crackles	Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.
HP:0030831	Rhonchi	Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.
HP:0030832	Vitreous strands	Fiber- or rope-like opacities located within the vitreous humor.
HP:0030833	Neck pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.
HP:0030834	Shoulder pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.
HP:0030835	Elbow pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.
HP:0030836	Wrist pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.
HP:0030837	Finger pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.
HP:0030838	Hip pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
HP:0030839	Knee pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
HP:0030840	Ankle pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
HP:0030841	Toe pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.
HP:0030842	Choking episodes	Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.
HP:0030843	Cardiac amyloidosis	Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
HP:0030844	Undetectable pattern electroretinogram	Absent response to a pattern electroretinogram (PERG).
HP:0030845	Heliotrope rash of eyelid	Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.
HP:0030846	Abnormality of venous physiology	An anomaly of venous function.
HP:0030847	Abnormal jugular venous pressure	An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.
HP:0030848	Elevated jugular venous pressure	Increased jugular venous pressure.
HP:0030849	Hepatojugular reflux	The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.
HP:0030850	Abnormal pulse pressure	An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.
HP:0030851	Low pulse pressure	Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).
HP:0030852	High pulse pressure	Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).
HP:0030853	Heterotaxy	An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.
HP:0030854	Scleral staphyloma	A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
HP:0030855	Anterior staphyloma	A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
HP:0030856	Posterior staphyloma	A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
HP:0030857	Eye movement-induced pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.
HP:0030858	Addictive behavior	When an activity, substance, object, or behavior becomes the main focus of a person's life excluding other activities, or has begun to harm the individual or others physically, mentally, or socially can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.
HP:0030859	Anti-topoisomerase I antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.
HP:0030860	Abnormal CSF amyloid concentration	Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).
HP:0030861	Decreased CSF amyloid concentration	Reduced concentration of amyloid in the cerebrospinal fluid (CSF).
HP:0030862	Elevated CSF amyloid concentration	Increased concentration of amyloid in the cerebrospinal fluid (CSF).
HP:0030863	Nasal flaring	Widening of the nostrils upon inhalation as a manifestation of respiratory distress.
HP:0030864	Intercostal retractions	A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.
HP:0030865	Large elbow	Abnormal increased size of the elbow joint.
HP:0030866	Large knee	Abnormally increased size of the knee joint.
HP:0030867	Vertical orbital dystopia	The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.
HP:0030868	Monorchism	Having only one testis in the scrotum.
HP:0030869	Anorchism	An abnormality of XY sexual development characterized by the absence of both testes at birth.
HP:0030870	Abnormality of spinal facet joint	An anomaly of the small joints located between and behind adjacent vertebrae.
HP:0030871	Facet joint arthrosis	Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.
HP:0030872	Abnormal cardiac ventricular function	An abnormality of the cardiac ventricular function.
HP:0030873	Anti-centromere antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.
HP:0030874	Oxygen desaturation on exertion	Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.
HP:0030875	Abnormality of pulmonary circulation	A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.
HP:0030876	Increased pulmonary capillary wedge pressure	Pulmonary capillary wedge pressure (PCWP) above 15mmHg.
HP:0030877	Reduced FEV1/FVC ratio	Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
HP:0030878	Abnormality on pulmonary function testing	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
HP:0030879	Interlobular septal thickening	Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.
HP:0030880	Raynaud phenomenon	
HP:0030881	Shoulder impingement	Trapping and compression of the rotator cuff tendons during shoulder movements.
HP:0030882	Coronary artery aneurysm	Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.
HP:0030883	Femoroacetabular impingement	Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.
HP:0030884	Gastrojejunal tube feeding in infancy	Feeding problem necessitating gastrojejunal tube feeding.
HP:0030885	Recurrent parasitic infections	Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.
HP:0030886	Abnormal lymphocyte apoptosis	A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.
HP:0030887	Increased lymphocyte apoptosis	A elevation in the rate of apoptosis in lymphocytes.
HP:0030888	C3 nephritic factor positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).
HP:0030889	Congenital shortened small intestine	Substantially shortened length of the small intestine as a result of a developmental defect.
HP:0030890	Hyperintensity of cerebral white matter on MRI	A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
HP:0030891	Periventricular white matter hyperintensities	Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
HP:0030892	Deep cerebral white matter hyperintensities	Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.
HP:0030893	Abnormal response to short acting pulmonary vasodilator	Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.
HP:0030894	Insufficient response to short acting pulmonary vasodilator	No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.
HP:0030895	Abnormal gastrointestinal motility	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.
HP:0030896	Abnormal gastrointestinal transit time	A deviation from the normal amount of time required for food to pass through the intestines.
HP:0030897	Decreased intestinal transit time	A reduction in the length of time required for food to pass through the intestines.
HP:0030898	Pruritis on abdomen	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.
HP:0030899	Pruritis on hand	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.
HP:0030900	Pruritus on foot	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.
HP:0030901	Pruritis on breast	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.
HP:0030902	Palmomental reflex	A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.
HP:0030903	Grasp reflex	A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].
HP:0030904	Glabellar reflex	A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.
HP:0030905	Snout reflex	A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.
HP:0030906	Suck reflex	A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.
HP:0030907	Thunderclap headache	Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.
HP:0030908	Liver kidney microsome type 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).
HP:0030909	Anti-liver cytosolic antigen type 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.
HP:0030911	Bifid clitoris	Two clitorides located side by side.
HP:0030912	Duplicated clitoris	Supernumerary clitoris.
HP:0030913	Exaggerated rugosity of the labia majora	Marked rugae formation of the skin of the labia majora.
HP:0030914	Abnormal peristalsis	An anomaly of the wave-like muscle contractions of the digestive tract.
HP:0030915	Cerebellar edema	Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.
HP:0030917	Low APGAR score	
HP:0030918	Low 1-minute APGAR score	
HP:0030919	Low 5-minute APGAR score	
HP:0030920	5-minute APGAR score of 0	
HP:0030921	5-minute APGAR score of 1	
HP:0030922	5-minute APGAR score of 2	
HP:0030923	5-minute APGAR score of 3	
HP:0030924	5-minute APGAR score of 4	
HP:0030925	5-minute APGAR score of 5	
HP:0030926	5-minute APGAR score of 6	
HP:0030927	1-minute APGAR score of 0	
HP:0030928	1-minute APGAR score of 1	
HP:0030929	1-minute APGAR score of 2	
HP:0030930	1-minute APGAR score of 3	
HP:0030931	1-minute APGAR score of 4	
HP:0030932	1-minute APGAR score of 5	
HP:0030933	1-minute APGAR score of 6	
HP:0030934	Oral erythroplakia	A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.
HP:0030935	Abnormality of intestinal smooth muscle morphology	A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.
HP:0030936	Abnormal layering of muscularis propria	Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.
HP:0030937	Fibrotic muscularis propria	The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.
HP:0030938	Enteric intraneuronal nuclear inclusion bodies	Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.
HP:0030939	Palpebral thickening	An increased thickness of the eyelid not related to acute inflammation.
HP:0030943	Vulvodynia	Pain in the vulvar area
HP:0030946	Conjunctival papillae	Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.
HP:0030947	Conjunctival follicles	Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.
HP:0030948	Elevated gamma-glutamyltransferase level	Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
HP:0030949	Glomerular deposits	An abnormal accumulation of protein in the glomerulus.
HP:0030950	Pulmonary venous hypertension	An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.
HP:0030951	Skeletal muscle fibrosis	Excessive formation of fibrous bands of scar tissue in between muscle fibers.
HP:0030952	Birdshot retinochoroidopathy	Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus.
HP:0030953	Conjunctival hyperemia	Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.
HP:0030955	Alcoholism	An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.
HP:0030956	Abnormality of cardiovascular system electrophysiology	An anomaly of the electrical conduction physiology of the heart.
HP:0030957	Ventricular septal aneurysm	A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.
HP:0030958	Membranous ventricular septal aneurysm	Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).
HP:0030959	Muscular ventricular septal aneurysm	Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).
HP:0030961	Microspherophakia	Lens of the eye is smaller than normal and spherically shaped.
HP:0030962	Abnormal morphology of the great vessels	A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.
HP:0030964	Abnormal aortic physiology	
HP:0030965	Aortic stiffness	The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.
HP:0030966	Abnormal pulmonary artery morphology	An abnormality of the structure of the pulmonary artery.
HP:0030967	Abnormal pulmonary artery physiology	An abnormality of the function of the pulmonary artery.
HP:0030968	Abnormal pulmonary vein morphology	An abnormality of the structure of the pulmonary veins.
HP:0030969	Abnormal pulmonary vein physiology	An abnormality of the function of the pulmonary veins.
HP:0030970	Abnormal vena cava physiology	An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.
HP:0030972	Abnormal systemic blood pressure	A chronic deviation from normal pressure in the systemic arterial system.
HP:0030973	Postexertional symptom exacerbation	Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.
HP:0030974	Cryptozoospermia	A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out).
HP:0030975	Pontine tegmental cap	An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.
HP:0030976	Abnormal factor VIII activity	A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
HP:0030977	Increased factor VIII activity	Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
HP:0030978	Decreased CSF/serum albumin ratio	A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.
HP:0030979	Dilatation of large choroidal vessels	Enlargement of the large blood vessels in the choroid.
HP:0030980	Reduced brain glutamine level by MRS	An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0030981	Abnormal CSF/serum albumin ratio	A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.
HP:0030983	Ovarian thecoma	A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.
HP:0030984	Abnormal serum bile acid concentration	A deviation from the normal concentration of serum bile acid concentration.
HP:0030985	Decreased serum bile acid concentration	A reduction in the concentration of bile acid in the blood.
HP:0030986	Biliary epithelial hyperplasia	Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.
HP:0030987	Suppurative cholangitis	Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).
HP:0030988	Granulomatous cholangitis	Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.
HP:0030989	Lymphoid cholangitis	Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.
HP:0030990	Pleomorphic cholangitis	Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.
HP:0030991	Sclerosing cholangitis	Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.
HP:0030992	Abnormal pancreatic duct morphology	Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.
HP:0030993	Duplication of pancreatic duct	A congenital anomaly characterized by the presence of two separate pancreatic ducts.
HP:0030994	Pancreas divisum	A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.
HP:0030995	Peritoneal effusion	An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).
HP:0030996	Megaduodenum	Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.
HP:0030997	Atretic vas deferens	Abnormal closure or blockage of the vas deferens.
HP:0030998	Cerebrospinal fluid rhinorrhoea	Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.
HP:0030999	Abnormal vestibular saccule morphology	Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).
HP:0031000	Vestibular saccular degeneration	Deterioration or loss of the tissues of the saccule of the vestibule.
HP:0031001	Minifascicle formation	A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.
HP:0031002	Neuritis	Inflammation of a nerve.
HP:0031003	Polyneuritis	Simulataneous inflammation of multiple nerves.
HP:0031004	Hemiareflexia	Areflexia that is limited to one side of the body.
HP:0031006	Acroparesthesia	A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.
HP:0031007	Orofacial action-specific dystonia induced by speech	
HP:0031008	Lingual dystonia	Involuntary protrusions, movements, spams and contortions of the tongue.
HP:0031009	Ainhum	Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.
HP:0031010	Hyperphalangy of the 3rd finger	An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.
HP:0031011	Fatty streak	Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.
HP:0031012	Thin-cap fibroatheroma	Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.
HP:0031013	Ankylosis	A reduction of joint mobility resulting from changes involving the articular surfaces.
HP:0031014	Arteria lusoria	Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.
HP:0031015	Intrahepatic portal vein sclerosis	Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.
HP:0031016	Alternating radiolucent and radiodense metaphyseal lines	Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.
HP:0031017	Swiss cheese atrial septal defect	Multiple defects in the atrial septum.
HP:0031018	Eccrine syringofibroadenoma	Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).
HP:0031019	Pyknotic bone marrow neutrophils	Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.
HP:0031020	Bone marrow hypercellularity	A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.
HP:0031021	Squamous Papilloma	A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].
HP:0031022	Oropharyngeal squamous papilloma	A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].
HP:0031023	Multiple mucosal neuromas	Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.
HP:0031024	Cylindroma	A benign skin adnexal tumor of eccrine differentiation.
HP:0031025	Gastric leiomyosarcoma	A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.
HP:0031026	Snail-like ilia	The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.
HP:0031027	Internal notch of the femoral head	A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.
HP:0031028	Lactescent serum	Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.
HP:0031029	Elevated carcinoembryonic antigen level	An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.
HP:0031030	Elevated carcinoma antigen 125 level	An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.
HP:0031031	Abnormal retinol-binding protein level	A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.
HP:0031032	Decreased retinol-binding protein level	A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.
HP:0031033	Impaired urinary acidification	The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.
HP:0031034	Abnormal insulin like growth factor binding protein acid labile subunit level	A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.
HP:0031035	Chronic infection	Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.
HP:0031036	Reduced growth-hormone binding protein level	A decreased blood concentration of growth hormone binding protein.
HP:0031037	Reduced insulin-like factor 3 level	Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.
HP:0031038	Spermatogenesis maturation arrest	Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.
HP:0031039	Early spermatogenesis maturation arrest	A type of maturation arrest in which only spermatogonia or spermatocytes are found.
HP:0031040	Late spermatogenesis maturation arrest	A type of maturation arrest in which spermatids are detected without spermatozoa.
HP:0031041	Obstruction of the superior vena cava	Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.
HP:0031042	Strawberry tongue	Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.
HP:0031043	Type A4 brachydactyly	A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.
HP:0031044	Type A5 brachydactyly	A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.
HP:0031045	Acral blistering	Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).
HP:0031046	Absent soft palate	A developmental defect characterized by lack of a soft palate.
HP:0031047	Paraproteinemia	An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.
HP:0031048	Light-chain paraproteinemia	An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
HP:0031049	Heavy-chain paraproteinemia	An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
HP:0031050	Whole-immunoglobulin paraproteinemia	An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
HP:0031051	Tarsal sclerosis	An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0031052	Elevated vascular endothelial growth factor level	Increased blood concentration of vascular endothelial growth factor (VEGF).
HP:0031053	Coarctation in the transverse aortic arch	Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.
HP:0031054	Long segment coarctation of the aorta	Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.
HP:0031055	Abnormal branching pattern of left aortic arch	A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).
HP:0031056	Fusiform cerebral aneurysm	A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.
HP:0031057	Skin fissure	A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.
HP:0031058	Impairment of activities of daily living	Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.
HP:0031059	Impaired ability to bathe oneself	This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.
HP:0031060	Impaired ability to dress oneself	This applies to an individual who needs help with dressing or needs to be completely dressed.
HP:0031061	Impaired toileting ability	This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.
HP:0031062	Impaired transferring ability	Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.
HP:0031063	Impaired feeding ability	Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.
HP:0031064	Impaired continence	Partial or total incontinence of bowel or bladder.
HP:0031065	Abnormal ovarian morphology	
HP:0031066	Abnormal ovarian physiology	Any anomaly of ovarian function.
HP:0031067	Empty ovarian follicle	A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.
HP:0031069	Abnormal femoral torsion	Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.
HP:0031071	Abnormal endocrine morphology	Any anomaly of the structure of an organ ofthe endocrine system.
HP:0031072	Abnormal endocrine physiology	Any anomaly of the function of the endocrine system.
HP:0031073	Abnormal response to endocrine stimulation test	An anomalous response to a test that is designed to probe the function of the endocrine system.
HP:0031074	Abnormal response to ACTH stimulation test	An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.
HP:0031075	Abnormal response to insulin tolerance test	An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.
HP:0031076	Impaired cortisol response to insulin stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
HP:0031077	Abnormal response to corticotropin releasing hormone stimulation test	An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.
HP:0031078	Impaired cortisol response to corticotropin releasing hormone stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.
HP:0031079	Impaired growth-hormone response to insulin stimulation test	Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
HP:0031080	Abnormal response to glucagon stimulation test	An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).
HP:0031081	Impaired cortisol response to glucagon stimulation test	Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.
HP:0031082	Impaired growth-hormone response to glucagon stimulation test	Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.
HP:0031083	Abnormal response to human chorionic gonadotrophin stimulation test	An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.
HP:0031084	Excessive insulin response to glucagon test	An abnormally high increase in insulin levels following a glucagon stimulation test.
HP:0031085	Decreased prealbumin level	A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.
HP:0031086	Ectopic ovary	Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.
HP:0031087	Absent pubertal growth spurt	The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.
HP:0031088	Vaginal dryness	Persistent vaginal dryness.
HP:0031089	Palatal edema	Swelling related to fluid accumulation within the palate.
HP:0031090	Finger dactylitis	Fingers appear swollen and plump owing to inflammation of the complete finger.
HP:0031091	Toe dactylitis	Toes appear swollen and plump owing to inflammation of the complete toe.
HP:0031092	Spindle-shaped finger	Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).
HP:0031093	Abnormal breast morphology	Any anomaly of the structure of the breast.
HP:0031094	Abnormal breast physiology	Any anomaly of the function of the breast.
HP:0031095	Abnormal humerus morphology	Any anomaly of the structure of the humerus.
HP:0031096	Delayed vertebral ossification	A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.
HP:0031097	Abnormal thyroid-stimulating hormone level	Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
HP:0031098	Decreased thyroid-stimulating hormone level	Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
HP:0031099	Abnormal circulating inhibin level	Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.
HP:0031100	Decreased inhibin B level	A reduced concentration of inhibin B in the blood.
HP:0031101	Abnormal circulating antimullerian hormone concentration	Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.
HP:0031102	Increased circulating antimullerian hormone concentration	An elevation above the normal range of the antimullerian hormone in the circulation.
HP:0031103	Decreased cirrculating antimullerian hormone circulation	A reduction below the normal range of the antimullerian hormone in the circulation.
HP:0031104	Insulin receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.
HP:0031105	Abnormal uterus morphology	Any anomaly of the structure of the uterus
HP:0031106	T-shaped uterus	An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.
HP:0031107	Decreased fibular diameter	Reduced width of the cross sectional diameter of the fibula.
HP:0031108	Triceps weakness	A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.
HP:0031109	Agalactia	Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.
HP:0031110	Twin-to-twin transfusion	As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.
HP:0031111	Cutaneous hamartoma	A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.
HP:0031117	Purely bicuspid aortic valve	A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.
HP:0031118	Single raphe bicuspid aortic valve	A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.
HP:0031119	Bicuspid aortic valve with right-left cusp fusion	A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.
HP:0031120	Bicuspid aortic valve with right-noncoronary cusp fusion	A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.
HP:0031121	Bicuspid aortic valve with left-noncoronary cusp fusion	A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.
HP:0031122	Two-raphe bicuspid aortic valve	A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.
HP:0031123	Recurrent gastroenteritis	Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.
HP:0031124	Decreased platelet thromboxane A2 receptor	Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).
HP:0031125	Decreased platelet alpha-2A-adrenergic receptor	Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.
HP:0031126	Impaired clot retraction	Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.
HP:0031127	Impaired convulxin-induced platelet aggregation	Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.
HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.
HP:0031129	Impaired phorbol myristate acetate-induced platelet aggregation	Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.
HP:0031130	Impaired calcium ionophore-induced platelet aggregation	Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.
HP:0031131	Abnormal platelet phosphatidylserine exposure	An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.
HP:0031132	Impaired annexin V binding to platelet phosphatidylserine	Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.
HP:0031133	Increased annexin V binding to platelet phosphatidylserine	Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.
HP:0031134	Cor triatrium sinister	A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.
HP:0031135	Triggered by physical trauma	Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).
HP:0031136	Decreased acrosin in sperm head	A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.
HP:0031137	Storage in hepatocytes	Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.
HP:0031138	Abnormal B-type natriuretic peptide concentration	A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).
HP:0031139	Frog-leg posture	A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.
HP:0031140	Abnormal liver sonography	An abnormal appearance of the liver or any of its components on sonography (ultrasound).
HP:0031141	Increased hepatic echogenicity	Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.
HP:0031142	Abnormal hepatic echogenicity	Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).
HP:0031143	Decreased hepatic echogenicity	Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.
HP:0031144	Coarsened hepatic echotexture	The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.
HP:0031145	Starry sky appearance on hepatic sonography	An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).
HP:0031146	Impaired oral bolus formation	An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.
HP:0031150	Vitreomacular adhesion	Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.
HP:0031151	Vitreomacular traction	Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.
HP:0031152	Full-thickness macular hole	Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.
HP:0031153	Membranous vitreous appearance	Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.
HP:0031154	Beaded vitreous appearance	Vitreous humor of the eye displaying beaded bundles of irregular diameters.
HP:0031155	Increased Arden ratio of electrooculogram	An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.
HP:0031156	Decreased platelet glycoprotein Ib	Decreased platelet cell membrane concentration of glycoprotein Ib.
HP:0031157	Carotid cavernous fistula	An abnormal connection between a carotid artery and the cavernous sinus.
HP:0031158	Widened atrophic scar	An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.
HP:0031159	Thinning of Descemet membrane	A reduction in the thickness of Descemet's membrane.
HP:0031160	Myelokathexis	Impaired egress of mature neutrophils from bone marrow causing neutropenia.
HP:0031161	Reduced brain glutamate level by MRS	An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0031162	Impaired oropharyngeal swallow response	Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.
HP:0031163	Low femoral bone density	Reduced bone mineral density of the femur.
HP:0031164	Growth arrest lines	Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.
HP:0031165	Multifocal seizures	Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).
HP:0031166	Eyelid myokymia	Involuntary, fine, continuous, undulating contractions of the eyelid.
HP:0031167	Triggered by ingestion of potassium-rich food	Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.
HP:0031169	Postterm pregnancy	A pregnancy that extends to 42 weeks of gestation or beyond.
HP:0031170	Female fetal virilization	Fetal masculinization of female external genitalia.
HP:0031171	Femoral spur	A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.
HP:0031172	Sectoral retinitis pigmentosa	A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.
HP:0031173	Tibial spur	A bony projection (spur, osteophyte) originating from the tibia.
HP:0031174	Double-layered patella	An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.
HP:0031175	Absent cervical vertebra	A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.
HP:0031176	Absent thoracic vertebra	A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.
HP:0031177	Finger flexor weakness	Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.
HP:0031178	Fixed head retroflexion	Head is bent in the posterior direction in a permanent fashion.
HP:0031179	Nuchal rigidity	Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.
HP:0031180	Erythema migrans	An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).
HP:0031181	Necrolytic migratory erythema	Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.
HP:0031185	Increased circulating NT-proBNP concentration	An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).
HP:0031186	Abnormal circulating deoxycorticosterone level	An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.
HP:0031187	Abnormal circulating pregnenolone concentration	An abnormality of the concentration of pregnenolone in the blood.
HP:0031188	Genital edema	A buildup of fluid that causes swelling in the soft tissues of the genital area.
HP:0031189	Wrist drop	A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.
HP:0031190	Superficial dermal perivascular inflammatory infiltrate	Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.
HP:0031191	Deep dermal perivascular inflammatory infiltrate	Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.
HP:0031192	Abnormal morphology of left ventricular trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).
HP:0031193	Abnormal morphology of right ventricular trabeculae	Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).
HP:0031194	Increased density of left ventricular trabeculae	An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).
HP:0031195	Apical hypertrabeculation of the left ventricle	An increased number and density of the trabeculae in the apex (tip) of the left ventricle.
HP:0031196	Thin myocardium compact layer	Reduced thickness of the outer, dense layer of the myocardium.
HP:0031197	Cellular urinary casts	A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).
HP:0031198	Renal tubular epithelial cell casts	A type of cellular urinary cast composed of renal tubular epithelial cells.
HP:0031199	Acellular urinary casts	A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.
HP:0031200	Hyaline casts	A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.
HP:0031201	Granular casts	A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.
HP:0031202	Waxy casts	A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.
HP:0031203	Fatty casts	A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.
HP:0031204	Bacterial cell casts	A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.
HP:0031205	Reduced lysosomal acid lipase activity	Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.
HP:0031206	Striatal T2 hyperintensity	Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.
HP:0031207	Hepatic hemangioma	A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.
HP:0031208	Increased pituitary glycoprotein hormone alpha subunit level	An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.
HP:0031209	Decreased circulating lipoprotein lipase concentration	Reduction in the level of lipoprotein lipase in the blood.
HP:0031210	Abnormal circulating hyaluronic acid concentration	A deviation from the normal concentration of hyaluronic acid in the blood.
HP:0031211	Elevated cholesterol ester level	An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.
HP:0031212	Abnormal circulating progesterone level	
HP:0031213	Elevated circulating 17-hydroxyprogesterone concentration	An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.
HP:0031214	Decreased circulating dehydroepiandrosterone concentration	
HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate concentration	A reduced concentration of dehydroepiandrosterone-sulfate in the blood.
HP:0031216	Increased circulating progesterone	An elevated concentration of progesterone in the blood.
HP:0031217	Hot flashes	Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.
HP:0031218	Inappropriate antidiuretic hormone secretion	A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.
HP:0031219	Reduced radioactive iodine uptake	A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.
HP:0031220	Increased radioactive iodine uptake	An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.
HP:0031221	Abnormal radioactive iodine uptake test result	Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.
HP:0031222	Increased circulating thyroxine-binding globulin level	An elevated concentration of thyroxine-binding globulin (TBG) in the blood.
HP:0031223	Focal pancreatic islet hyperplasia	Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.
HP:0031224	Diffuse pancreatic islet hyperplasia	Hyperplasia of the islets of Langerhans with a generalized distribution.
HP:0031225	Intrapulmonary shunt	Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.
HP:0031226	Perinephric fluid collection	An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.
HP:0031227	Nasopharyngeal teratoma	A teratoma arising in the nasopharyngeal region.
HP:0031228	Abnormal incisura morphology	An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.
HP:0031229	Increased incisura length	The length of the incisura from the upper to lower border is greater than that observed in the average population.
HP:0031230	Decreased incisura length	The length of the incisura from the upper to lower border is less than that observed in the average population.
HP:0031231	Narrow incisura width	Width of the incisura from the anterior to posterior border less than that observed in the average population.
HP:0031232	Increased incisura width	Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.
HP:0031233	Horizontal inferior border of scapula	A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).
HP:0031234	Neutrophilic infiltration of the skin	A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).
HP:0031235	Predominantly epidermal neutrophilic infiltrate	Collection of neutrophils in the epidermis.
HP:0031236	Predominantly dermal neutrophilic infiltrate	Collection of neutrophils in the dermis.
HP:0031237	Internally nucleated skeletal muscle fibers	An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.
HP:0031238	Necklace skeletal muscle fibers	A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.
HP:0031239	Extrafoveal choroidal neovascularization	A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.
HP:0031240	Juxtafoveal choroidal neovascularization	A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.
HP:0031241	Subfoveal choroidal neovascularization	A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.
HP:0031242	Decreased circulating chylomicron concentration	Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.
HP:0031243	Decreased VLDL cholesterol concentration	A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.
HP:0031244	Swollen lip	Enlargement of the lip typically due to fluid buildup or inflammation.
HP:0031245	Productive cough	A cough that produces phlegm or mucus.
HP:0031246	Nonproductive cough	A cough that does not produce phlegm or mucus.
HP:0031247	Whooping cough	A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.
HP:0031248	Palmar pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.
HP:0031249	Parageusia	A distortion of the sense of taste, often characterized by the sensation of a metallic taste.
HP:0031250	Lip fissure	A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.
HP:0031251	Abnormal subclavian artery morphology	Any anomaly of a subclavian artery.
HP:0031252	Dilated left subclavian artery	Abnormally increased caliber of the left subclavian artery.
HP:0031253	Anomalous origin of left subclavian artery	Origin of the left subclavian artery from an anomalous anatomical location.
HP:0031254	Thalamic arteriovenous malformation	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.
HP:0031255	Hypothalamic arteriovenous malformation	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.
HP:0031256	Optic nerve arteriovenous malformation	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.
HP:0031257	Arteriovenous malformation of the maxilla	An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.
HP:0031258	Delirium	A state of sudden and severe confusion.
HP:0031259	Oophoritis	An inflammation of the ovary or ovaries.
HP:0031260	Triangular tibia	A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.
HP:0031261	Bladder polyp	An abnormal growth that projects from the mucous membrane of the urinary bladder.
HP:0031263	Abnormal renal corpuscle morphology	Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.
HP:0031264	Abnormal Bowman capsule morphology	A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.
HP:0031266	Podocyte foot process effacement	An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.
HP:0031267	Abnormal CD69 upregulation upon TCR activation	Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.
HP:0031268	Decreased CD69 upregulation upon TCR activation	Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).
HP:0031269	Abnormal CD25 upregulation upon TCR activation	Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.
HP:0031270	Decreased CD25 upregulation upon TCR activation	Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).
HP:0031271	Absent ankle pulse	The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.
HP:0031272	Pulmonary arterial atherosclerosis	Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.
HP:0031273	Shock	The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.
HP:0031274	Hypovolemic shock	A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.
HP:0031275	Distributive shock	A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage
HP:0031276	Obstructive shock	A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).
HP:0031278	Abnormal thoracic duct morphology	Any structural anomaly of the thoracic duct.
HP:0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
HP:0031280	Increased LH response to gonadotropin-releasing hormone stimulation test	An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.
HP:0031281	Sialadenitis	Inflammation of a salivary gland.
HP:0031282	Malalignment of the great toenail	A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.
HP:0031283	Tufted hairs	The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.
HP:0031284	Flushing	Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.
HP:0031285	Abnormal perifollicular morphology	Any structural anomaly in the areas surrounding the hair follicles.
HP:0031286	Perifollicular erythema	Redness surrounding the hair follicles.
HP:0031287	Seborrheic keratosis	A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.
HP:0031288	Cobblestone-like hyperkeratosis	The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.
HP:0031289	White papule	A papule with white color.
HP:0031290	Tuberous xanthoma	A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.
HP:0031291	Ichthyosis follicularis	Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.
HP:0031292	Cutaneous abscess	A circumscribed area of pus or necrotic debris in the skin.
HP:0031293	Digital pitting scar	Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.
HP:0031294	Hypoplastic right atrium	Underdeveloped, small right heart atrium.
HP:0031295	Left atrial enlargement	Increase in size of the left atrium.
HP:0031296	Atrial septal hypertrophy	An abnormal increase in the thickness of the atrial septum.
HP:0031297	Unroofed coronary sinus	Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.
HP:0031298	Coronary sinus enlargement	Abnormal increase in size of the coronary sinus.
HP:0031299	Elevated left atrial pressure	An abnormal increase in magnitude of the pressure in the left atrium.
HP:0031300	Abnormal circulating properdin level	A deviation from the normal concentration of properdin in the blood.
HP:0031301	Peripheral arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.
HP:0031302	Lower extremity peripheral arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.
HP:0031303	Femoral arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.
HP:0031304	Iliac arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.
HP:0031305	Tibial arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.
HP:0031306	Intracranial arterial calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).
HP:0031307	Internal carotid artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.
HP:0031308	Vertebral artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.
HP:0031309	Cerebral artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.
HP:0031310	Basilar artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.
HP:0031311	Middle cerebral artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.
HP:0031313	Abdominal aortic calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.
HP:0031314	Carotid artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.
HP:0031315	External carotid artery calcification	An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.
HP:0031316	Abnormal ventricular myocardium morphology	A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.
HP:0031317	Fatty replacement of ventricular myocardial tissue	Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.
HP:0031318	Myofiber disarray	A nonparallel arrangement of cardiac myocytes.
HP:0031319	Cardiomyocyte hypertrophy	An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.
HP:0031320	Cardiomyocyte mitochondrial proliferation	An abnormal increase in the number of mitochondria per cardiac myocyte.
HP:0031321	Myocardial immune cell infiltration	An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).
HP:0031322	Myocardial lymphocytic infiltration	An increase in the number of lymphocytes in myocardial tissue.
HP:0031323	Myocardial eosinophilic infiltration	An increase in the number of eosinophils in myocardial tissue.
HP:0031324	Myocardial multinucleated giant cells	The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.
HP:0031325	Myocardial granulomatous infiltrates	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.
HP:0031326	Monoclonal light chain cardiac amyloidosis	A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.
HP:0031327	Transthyretin cardiac amyloidosis	A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.
HP:0031328	Perivascular cardiac fibrosis	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.
HP:0031329	Interstitial cardiac fibrosis	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.
HP:0031330	Perivascular myocardial immune cell infiltration	An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.
HP:0031331	Abnormal cardiomyocyte morphology	Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.
HP:0031332	Cardiomyocyte degeneration	Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.
HP:0031333	Myocardial sarcomeric disarray	A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.
HP:0031334	Cardiomyocyte inclusion bodies	Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.
HP:0031335	Abnormal cardiomyocyte mitochondrial morphology	An anomaly of the structure of mitochondria within cardiomyocytes.
HP:0031336	Intranuclear cardiomyocyte mitochondria	Abnormal localization of mitochondria within the nuclei of cardiomyocytes.
HP:0031337	Abnormal cardiomyocyte connexin43 staining	Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.
HP:0031338	Abnormal cardiomyocyte plakoglobin staining	Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.
HP:0031339	Abnormal cardiomyocyte dystrophin staining	Anomalous staining of dystrophin in cardiomyocytes.
HP:0031340	Abnormal lysosomal morphology	A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.
HP:0031341	Gastric arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.
HP:0031342	Duodenal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.
HP:0031343	Jejunal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.
HP:0031344	Pelvic arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.
HP:0031345	Colonic arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.
HP:0031346	Rectal arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.
HP:0031347	Uterine arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.
HP:0031348	Dextrotransposition of the great arteries	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.
HP:0031349	Levotransposition of the great arteries	A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.
HP:0031350	Cardiac sarcoma	A malignant soft tissue neoplasm that arises from the heart.
HP:0031351	Calcified amorphous tumor of the heart	A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.
HP:0031352	Chest tightness	An unpleasant sensation of tightness or pressure in the chest.
HP:0031353	Otitis media with effusion	Otitis media characterized by thick or sticky fluid behind the tympanic membrane.
HP:0031354	Sleep onset insomnia	Difficulty initiating sleep, that is, increased sleep onset latency.
HP:0031355	Maintenance insomnia	Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.
HP:0031356	Terminal insomnia	A type of insomnia characterized by waking up (too) early in the morning.
HP:0031357	Glomeruloid hemangioma	A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.
HP:0031358	Vegetative state	Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).
HP:0031359	Cutaneous sclerotic plaque	A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).
HP:0031360	Yellow skin plaque	A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.
HP:0031361	Zebra bodies	Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.
HP:0031363	Palpable purpura	A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).
HP:0031364	Ecchymosis	A purpuric lesion that is larger than 1 cm in diameter.
HP:0031365	Macular purpura	Purpura that is flat (non-palpable, not raised).
HP:0031366	Palate neoplasm	A neoplasm that affects the hard palate, soft palate, or uvula.
HP:0031367	Metaphyseal striations	Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).
HP:0031368	Intestinal perforation	A hole (perforation) in the wall of the intestine.
HP:0031369	Colon perforation	A hole (perforation) in the wall of the colon.
HP:0031370	Small intestinal perforation	A hole (perforation) in the wall of the small intestine.
HP:0031371	Rectal perforation	A hole (perforation) in the wall of the rectum.
HP:0031372	Cold paresis	Increased muscle weakness upon exposure to cold temperatures.
HP:0031373	Stiff tongue	Increased rigidity and reduced mobility of the tongue.
HP:0031374	Ankle weakness	Reduced strength of the muscles that lift or otherwise move the foot at the ankle.
HP:0031375	Refractory	Applies to a sign or symptom that is difficult to treat or cure.
HP:0031377	Abnormal cell proliferation	Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.
HP:0031378	Abnormal lymphocyte proliferation	Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.
HP:0031379	Abnormal T cell proliferation	Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.
HP:0031380	Abnormal B cell proliferation	Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.
HP:0031381	Decreased lymphocyte proliferation in response to mitogen	A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
HP:0031382	Decreased lymphocyte proliferation in response to anti-CD3	A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.
HP:0031383	Abnormal lymphocyte surface marker expression	Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.
HP:0031384	Reduced T cell CD40 expression	A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.
HP:0031385	Megakaryocyte nucleus hypolobulation	The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.
HP:0031386	Increased micromegakaryocyte count	The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.
HP:0031387	Increased multinucleated megakaryocyte count	The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.
HP:0031388	Megakaryocyte nucleus hyperlobulation	The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.
HP:0031389	Abnormal MHC II surface expression	A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
HP:0031390	Reduced MHC II surface expression	A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
HP:0031391	Elevated MHC II surface expression	An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
HP:0031392	Abnormal proportion of CD4-positive T cells	Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.
HP:0031393	Abnormal proportion of CD8-positive T cells	Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.
HP:0031394	Abnormal CD4:CD8 ratio	Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.
HP:0031396	Abnormal proportion of naive T cells	Any abnormality in the proportion of naive T cells relative to the total number of T cells.
HP:0031397	Decreased proportion of naive T cells	An abnormally decreased proportion of naive T cells relative to the total number of T cells.
HP:0031398	Increased proportion of naive T cells	An abnormally increased proportion of naive T cells relative to the total number of T cells.
HP:0031399	Abnormal proportion of double-negative alpha-beta regulatory T cell	An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
HP:0031401	Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
HP:0031402	Reduced antigen-specific T cell proliferation	Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.
HP:0031403	Impaired pathogen-specific CD8 cytoxicity	Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.
HP:0031404	Impaired antigen-specific response	An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
HP:0031405	Poroma	A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].
HP:0031406	Abnormal cytokine signaling	Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.
HP:0031407	Impaired cytokine signaling	A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.
HP:0031408	Increased proportion of CD25+ mast cells	An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).
HP:0031409	Abnormal lymphocyte physiology	Any anomaly of lymphocyte function.
HP:0031410	Abnormal distribution of CD56 bright/dim natural killer cells	An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.
HP:0031411	Abnormal chromosome morphology	Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.
HP:0031412	Abnormal telomere morphology	
HP:0031413	Short telomere length	An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.
HP:0031414	High serum calcifediol	An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.
HP:0031415	High serum calcitriol	An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
HP:0031416	Abnormal nasal mucus secretion	Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.
HP:0031417	Rhinorrhea	Increased discharge of mucus from the nose.
HP:0031418	Increased body mass index	Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.
HP:0031419	Reduced sex -hormone binding protein level	A decreased concentration of sex-hormone binding protein in the circulation.
HP:0031420	Small yellow foveal lesion with surrounding gray zone	A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.
HP:0031421	Small superior frontal cortex	Reduced size of the superior frontal portion of the cerebral cortex.
HP:0031422	Abnormal cerebellar cortex morphology	Any structural anomaly of the cortex of the cerebellum.
HP:0031423	Small cerebellar cortex	Reduced size of the cerebellar cortex.
HP:0031424	Abnormal circulating beta-C-terminal telopeptide concentration	A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.
HP:0031425	Increased circulating beta-C-terminal telopeptide concentration	A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.
HP:0031426	Decreased circulating beta-C-terminal telopeptide concentration	A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.
HP:0031427	Abnormal circulating osteocalcin level	A deviation from the normal concentration of osteocalcin in the blood circulation.
HP:0031428	Increased circulating osteocalcin level	An elevated level of osteocalcin in the blood.
HP:0031429	Decreased circulating osteocalcin level	A reduced level of osteocalcin in the blood.
HP:0031430	Oligoclonal T cell expansion	The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.
HP:0031431	Persistent repetition of words or sounds	Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.
HP:0031432	Atypical repetitive behaviors	A broad range of behaviors that are repeated including simple motor stereotypies and tics as well as more complex repetitive movements or compulsions.
HP:0031433	Alexithymia	A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.
HP:0031434	Abnormal prosody	Abnormalities in the patterns of stress or intonation of speech or vocalization.
HP:0031435	Monotonic speech	A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.
HP:0031436	Singsong Intonation	A speech pattern characterized by abnormal fluctuations in the pitch of the voice.
HP:0031437	Pregnancy exposure	Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.
HP:0031438	Abnormal sex hormone-binding globulin level	A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.
HP:0031439	Abnormal angiostatin level	A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.
HP:0031441	Abnormal tricuspid valve annulus morphology	Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.
HP:0031442	Abnormal tricuspid chordae tendinae morphology	Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.
HP:0031443	Abnormal tricuspid valve leaflet morphology	Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.
HP:0031444	Dilatation of the tricuspid annulus	An increase in the diameter of the ring (annulus) of the tricuspid valve.
HP:0031445	Oral mucosa nodule	A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.
HP:0031446	Erosion of oral mucosa	Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.
HP:0031447	Penile freckling	Multiple pigmented macules located on the skin of the penis.
HP:0031448	Herpetiform vesicles	Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.
HP:0031449	Perineal hemangioma	Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.
HP:0031450	Polycyclic	A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.
HP:0031451	Lower extremity subcutanous fat hypertrophy	An abnormal increase in the amount of subcutaneous fat in the legs.
HP:0031452	Lichenoid skin lesion	Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.
HP:0031453	Oral lichenoid lesion	Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.
HP:0031454	Apocrine hidrocystoma	A cystic lesions that forms a benign tumor of an apocrine sweat gland.
HP:0031455	Presacral ganglioneuroma	A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.
HP:0031456	Ectopic pregnancy	A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).
HP:0031457	Pulmonary opacity	Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.
HP:0031458	Adenoiditis	An inflammation of the adenoid tissue.
HP:0031459	Soft tissue neoplasm	A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.
HP:0031460	Benign muscle neoplasm	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].
HP:0031461	Intramuscular Myxoma	A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.
HP:0031462	Musculotendinous retraction	Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.
HP:0031463	Esophageal squamous papilloma	A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.
HP:0031464	Genital blistering	The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
HP:0031465	Abnormal vasa vasorum morphology	A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.
HP:0031466	Impairment in personality functioning	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.
HP:0031467	Negative affectivity	A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.
HP:0031468	Separation insecurity	Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.
HP:0031469	Low self esteem	Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.
HP:0031472	Risk taking	Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality or personal danger.
HP:0031473	Hostility	Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.
HP:0031474	Pulmonary chondroma	A benign cartilaginous tumors of the lung.
HP:0031475	Status epilepticus without prominent motor symptoms	There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.
HP:0031476	Abnormal buccal mucosa cell morphology	Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).
HP:0031478	Abnormal mitral valve annulus morphology	Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.
HP:0031479	Dilatation of the mitral annulus	An increase in the diameter of the ring (annulus) of the mitral valve.
HP:0031480	Abnormal mitral valve leaflet morphology	Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.
HP:0031481	Abnormal mitral valve physiology	Any functional anomaly of the mitral valve.
HP:0031482	Abnormal regional left ventricular contraction	A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.
HP:0031483	Reduced contraction of the left ventricular apex	Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.
HP:0031484	Cold-induced hemolysis	A form of hemolytic anemia that can be triggered by cold temperatures.
HP:0031485	Subperiosteal bone formation	The formation of new bone along the cortex and underneath the periosteum of a bone.
HP:0031486	Vascular malformation of the lip	An anomaly of blood vessels located in the lip.
HP:0031487	Capillary malformation of the lip	A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.
HP:0031488	Arteriovenous malformation of the lip	A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.
HP:0031489	Venous malformation of the lip	A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.
HP:0031490	Hemangioma of the lip	A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.
HP:0031491	Continuous spike and waves during slow sleep	Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.
HP:0031492	Epithelial neoplasm	A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].
HP:0031493	Glandular cell neoplasm	A tumor that arises from a gland cell.
HP:0031494	Ovarian mucinous tumor	Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.
HP:0031495	Mucinous neoplasm	
HP:0031496	Mucinous cystic neoplasm of the pancreas	Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.
HP:0031497	Mucinous colorectal carcinoma	A subtype of colorectal carcinoma with mucin lakes.
HP:0031498	Mucinous gastric carcinoma	A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.
HP:0031499	Appendiceal mucinous neoplasm	An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.
HP:0031500	Abdominal mass	An abnormal enlargement or swelling in the abdomen.
HP:0031501	Pelvic mass	An abnormal enlargement or swelling in the pelvic region.
HP:0031502	Trophoblastic tumor	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].
HP:0031503	Night gasping	Waking up at night gasping for breath.
HP:0031504	Foamy urine	Urine has an increased amount of frothy fine bubbles.
HP:0031505	Abnormal circulating T4 concentration	A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
HP:0031506	Increased circulating T4 concentration	An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
HP:0031507	Decreased circulating T4 concentration	A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
HP:0031508	Abnormal circulating thyroid hormone concentration	Any deviation from the normal range of the hormones produced by the thyroid gland.
HP:0031509	Dry nipple	Abnormally dry skin in the area of the nipple of the breast.
HP:0031510	Linear earlobe crease	A transverse linear fissure (crease) in the lobule of the ear.
HP:0031511	Diagonal earlobe crease	Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.
HP:0031512	Abnormal cutaneous collagen fibril morphology	
HP:0031513	Luse bodies	Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.
HP:0031514	Increased proportion of exhausted T cells	An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.
HP:0031515	Abnormal meiosis	Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.
HP:0031516	Oocyte arrest at metaphase I	Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.
HP:0031517	Verruciform xanthoma	A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.
HP:0031518	Absent posterior alpha rhythm	Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.
HP:0031519	Cauliflower deformity of dermal collagen fibrils	An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.
HP:0031520	Groin pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.
HP:0031521	Vaginal clear cell adenocarcinoma	A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.
HP:0031522	Cervical clear cell adenocarcinoma	A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.
HP:0031523	Salivary gland oncocytoma	A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)
HP:0031524	Ampulla of Vater carcinoma	A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.
HP:0031525	Keratoacanthoma	Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.
HP:0031526	Subretinal fluid	Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.
HP:0031527	Intraretinal fluid	Edema/fluid accumulating within the retinal layers.
HP:0031528	Subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium.
HP:0031529	Focal subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.
HP:0031530	Multifocal subretinal deposits	Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.
HP:0031531	Sub-RPE deposits	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.
HP:0031532	Focal sub-RPE deposits	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.
HP:0031533	Multifocal sub-RPE deposits	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.
HP:0031534	Passive dorsiflexion of the 5th finger more than 90 degrees	An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.
HP:0031535	Increased theta frequency activity in EEG	Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.
HP:0031536	Separate origin of the left anterior descending and left circumflex artery	Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).
HP:0031537	Anomalous origin of the left circumflex artery from the right coronary artery	An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).
HP:0031538	Abnormal dermoepidermal junction morphology	Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.
HP:0031539	Linear IgA deposits along the epidermal basement membrane zone	Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.
HP:0031540	Linear IgG deposits along the epidermal basement membrane zone	Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.
HP:0031541	Linear C3 deposits along the epidermal basement membrane zone	Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.
HP:0031542	Myelin-like whorls in vacuolated fibers	Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.
HP:0031544	Elevated circulating palmitoleylcarnitine concentration	An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.
HP:0031545	Abnormally low T cell receptor excision circle level	Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.
HP:0031546	Cardiac conduction abnormality	Any anomaly of the progression of electrical impulses through the heart.
HP:0031547	Abnormal QT interval	Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
HP:0031548	Follicular infundibulum tumor	A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.
HP:0031549	Lymphocytoma cutis	Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.
HP:0031550	Abnormal flow cytometry test result	Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.
HP:0031551	Reduced cell surface marker level	Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.
HP:0031552	Reduced fibroblast surface marker level	Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.
HP:0031553	Reduced granulocyte surface marker level	Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.
HP:0031554	Reduced granulocyte CD55 level	Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.
HP:0031555	Reduced granulocyte CD59 level	Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.
HP:0031556	Reduced granulocyte CD16 level	Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.
HP:0031557	Reduced fibroblast CD55 level	Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.
HP:0031558	Reduced fibroblast CD59 level	Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.
HP:0031559	Reduced fibroblast CD16 level	Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.
HP:0031560	Coronary cameral fistula	An abnormal communication between coronary artery and a cardiac chamber.
HP:0031561	Coronary cameral fistula to right ventricle	An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.
HP:0031562	Balanced double aortic arch	A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.
HP:0031563	Coronary arteriovenous fistula	An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.
HP:0031564	Bronchial isomerism	An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).
HP:0031565	Abdominal situs ambiguus	An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
HP:0031566	Abnormal pulmonary valve cusp morphology	Any structural anomaly of the pulmonary valve leaflets.
HP:0031567	Abnormal aortic valve cusp morphology	Any structural anomaly of the aortic valve leaflets.
HP:0031568	Thickened aortic valve cusp	An abnormally increased thickness of a leaflet of the aortic valve.
HP:0031569	Absent aortic valve cusps	A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.
HP:0031570	Tessier number 0 facial cleft	A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.
HP:0031571	Paramedian facial cleft	A type of facial cleft located near to but not directly on the midline of the face.
HP:0031572	Tessier number 1 facial cleft	As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.
HP:0031573	Tessier number 2 facial cleft	As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.
HP:0031574	Orbital cleft	A facial cleft characterized by involvement of the orbit.
HP:0031575	Tessier number 3 facial cleft	As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.
HP:0031576	Tessier number 4 facial cleft	The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.
HP:0031577	Tessier number 5 facial cleft	The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.
HP:0031578	Tessier number 6 facial cleft	A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.
HP:0031579	Tessier number 7 facial cleft	The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.
HP:0031580	Tessier number 8 facial cleft	The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.
HP:0031581	Tessier number 9 facial cleft	This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.
HP:0031582	Tessier number 10 facial cleft	In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.
HP:0031583	Tessier number 11 facial cleft	An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.
HP:0031584	Tessier number 12 facial cleft	There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.
HP:0031585	Tessier number 13 facial cleft	There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.
HP:0031586	Tessier number 14 facial cleft	This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.
HP:0031587	Tessier number 30 facial cleft	A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.
HP:0031588	Unhappy demeanor	A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.
HP:0031589	Suicidal ideation	Frequent thinking about or preoccupation with killing oneself.
HP:0031590	Asthenopia	Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.
HP:0031591	Enlarged Eustachian valve	An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.
HP:0031592	Situs inversus with levocardia	Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.
HP:0031593	Abnormal PR interval	An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.
HP:0031594	PR segment depression	A reduction in voltage of the PR segment below baseline.
HP:0031595	Abnormal P wave	Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.
HP:0031596	Abnormal PR segment	An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.
HP:0031597	PR segment elevation	An increase in voltage of the PR segment above baseline.
HP:0031598	Notched P wave	V-shaped cut (notch) in the middle of the P wave.
HP:0031599	P mitrale	A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.
HP:0031600	P wave inversion	P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.
HP:0031601	P pulmonale	The presence of tall, peaked P waves in EKG lead II.
HP:0031602	Abnormal mucociliary clearance	An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary  beating.
HP:0031603	Impaired nasal mucociliary clearance	An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.
HP:0031604	Agenesis of the carotid canal	A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.
HP:0031605	Abnormality of fundus pigmentation	Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.
HP:0031606	Retinal cotton wool spot	Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.
HP:0031607	Pelvic organ prolapse	Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.
HP:0031609	Geographic atrophy	Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.
HP:0031610	Recurrent shoulder dislocation	Shoulder dislocation occurring repeated times.
HP:0031611	Sub-inner limiting membrane hemorrhage	A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.
HP:0031613	Inferior chorioretinal coloboma	Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.
HP:0031614	Inferior retinal coloboma	A notch or cleft of the lower part of the retina.
HP:0031615	Hypopyon	Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.
HP:0031616	Anterior chamber flare	An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.
HP:0031618	Anterior chamber flare grade 1+	Faint anterior chamber flare.
HP:0031619	Anterior chamber flare grade 2+	Moderate anterior chamber flare (iris and lens details clear).
HP:0031620	Anterior chamber flare grade 3+	Marked anterior chamber flare (iris and lens details hazy).
HP:0031621	Anterior chamber flare grade 4+	Intense anterior chamber flare (fibrin/plastic aqueous).
HP:0031622	Brown anomaly	An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.
HP:0031623	Brow ptosis	Drooping of the upper eyebrow below the superior orbital rim.
HP:0031624	Moderate myopia	A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.
HP:0031625	Pseudoaneurysm	A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.
HP:0031626	Coronary ostial atresia	Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.
HP:0031627	Globus pallidus calcification	Pathological deposition of calcium salts in the globus pallidus.
HP:0031628	Aborted sudden cardiac death	Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.
HP:0031629	Impaired tandem gait	Reduced ability to walk in a straight line while placing the feet heel to toe.
HP:0031630	Abnormal subpleural morphology	Any structural anomaly located between the pleura and the chest wall.
HP:0031631	Subpleural honeycombing	So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.
HP:0031632	Anomalous origin of the right subclavian artery from the descending aorta	Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.
HP:0031633	Isolation of the left subclavian artery	The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.
HP:0031634	Anomalous origin of the left common carotid artery from the main pulmonary artery	The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.
HP:0031635	Anomalous origin of the left common carotid artery from the brachiocephalic artery	The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.
HP:0031636	Anomalous origin of the right common carotid artery from the aorta	The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.
HP:0031637	Right coronary artery ostial atresia	Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.
HP:0031638	Anomalous origin of the left anterior descending artery from the pulmonary artery	The left anterior descending artery (LAD) branches off from the pulmonary artery.
HP:0031639	Absent left main coronary artery	The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.
HP:0031640	Abnormal radial artery morphology	Any structural anomaly of the radial artery.
HP:0031643	Fusiform ascending tubular aorta aneurysm	A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.
HP:0031644	Fusiform abdominal aortic aneurysm	A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall
HP:0031645	Saccular abdominal aortic aneurysm	An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.
HP:0031646	Fusiform aortic arch aneurysm	A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.
HP:0031647	Saccular aortic arch aneurysm	An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.
HP:0031648	Penetrating aortic ulcer	A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.
HP:0031649	Aortic rupture	Tearing of the aortic wall generally associated with profuse internal bleeding.
HP:0031650	Abnormal atrioventricular valve physiology	Any functional defect of the mitral or tricuspid valve.
HP:0031651	Abnormal tricuspid valve physiology	Any functional defect of the tricuspid valve.
HP:0031652	Abnormal aortic valve physiology	
HP:0031653	Abnormal heart valve physiology	Any functional abnormality of a cardiac valve.
HP:0031654	Abnormal pulmonary valve physiology	Any functional anomaly of the pumonary valve.
HP:0031655	Quadricuspid aortic valve	The presence of an aortic valve with four instead of the normal three cusps (flaps).
HP:0031656	Systolic anterior motion of the mitral valve	Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.
HP:0031657	Abnormal heart sound	Any abnormal noise generated by the beating heart.
HP:0031658	Third heart sound	The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.
HP:0031659	Fourth heart sound	The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.
HP:0031660	Loud first heart sound	Abnormally increased volume of the first heart sound.
HP:0031661	Abnormal second heart sound	Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.
HP:0031662	Fixed splitting of the second heart sound	Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.
HP:0031663	Paradoxical splitting of the second heart sound	Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).
HP:0031664	Systolic heart murmur	A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.
HP:0031665	Midsystolic murmur	A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.
HP:0031666	Late systolic murmur	A murmur that occurs in the latter phase of systole.
HP:0031667	Holosystolic murmur	A heart murmur that occurs during the entire systolic phase from S1 to S2.
HP:0031668	Diastolic heart murmur	A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.
HP:0031669	Middiastolic murmur	A murmur that occurs in the middle of the diastolic phase.
HP:0031670	Continuous heart murmur	A murmur that occurs in both systole and diastole.
HP:0031671	Typical atrial flutter	Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.
HP:0031672	Reverse typical atrial flutter	A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.
HP:0031673	Orthodromic atrioventricular reentrant tachycardia	A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.
HP:0031674	Antidromic atrioventricular reentrant tachycardia	A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.
HP:0031675	Fascicular left ventricular tachycardia	A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).
HP:0031676	Monomorphic ventricular tachycardia	A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).
HP:0031677	Polymorphic ventricular tachycardia	A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).
HP:0031678	Atherosclerotic lesion	A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.
HP:0031679	Type I atherosclerotic lesion	Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).
HP:0031680	Type II atherosclerotic lesion	Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.
HP:0031681	Type III atherosclerotic lesion	Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.
HP:0031682	Type V atherosclerotic lesion	Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.
HP:0031683	Type VI atherosclerotic lesion	Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.
HP:0031684	Renal artery atherosclerosis	An atherosclerotic lesion located in the renal artery.
HP:0031685	Abnormal stool composition	Abnormal level of metabolite or other abnormal analyte result in a stool test.
HP:0031686	Increased stool alpha1-antitrypsin concentration	An abnormally elevated amount of alpha1-antitrypsin in the feces.
HP:0031687	Abnormally loud pulmonic component of the second heart sound	
HP:0031688	Erythroid dysplasia	Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.
HP:0031689	Megakaryocyte dysplasia	The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.
HP:0031690	Opportunistic infection	An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
HP:0031691	Severe viral infection	An unusually severe viral infection.
HP:0031692	Severe cytomegalovirus infection	An unusually severe infection by cytomegalovirus.
HP:0031693	Severe Epstein Barr virus infection	An unusually severe Epstein Barr virus (EBV) infection.
HP:0031694	Severe adenovirus infection	An unusually severe adenovirus infection.
HP:0031695	Severe parainfluenza infection	An unusually severe infection by a parainfluenza virus.
HP:0031696	Disseminated viral infection	A viral infection that fails to be contained by the immune sytem and spreads throughout the body.
HP:0031697	Disseminated infection with live vaccine virus	A dissemination viral infection caused by a live attenuated vaccine virus.
HP:0031699	Disseminated cryptosporidium infection	Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.
HP:0031700	Invasive parasitic infection	A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.
HP:0031701	Anterior chamber inflammatory cells	The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.
HP:0031702	Anterior chamber red blood cells	The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.
HP:0031703	Abnormal ear morphology	Any structural anomaly of the ear.
HP:0031704	Abnormal ear physiology	Any functional anomaly of the ear.
HP:0031705	Compensatory head posture	A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.
HP:0031706	Compensatory chin depression	A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.
HP:0031707	Compensatory face turn to the right	A tendency to turn the face to the right to compensate for a limitation of eye movement.
HP:0031708	Compensatory face turn to the left	A tendency to turn the face to the left to compensate for a limitation of eye movement.
HP:0031709	Compensatory head tilt to the right shoulder	A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.
HP:0031710	Compensatory head tilt to the left shoulder	A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.
HP:0031711	Asymmetric abdominal aortic aneurysm	An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).
HP:0031713	Constant exotropia	A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.
HP:0031714	Distance exotropia	A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.
HP:0031715	Near exotropia	An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).
HP:0031716	Cyclic exotropia	A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.
HP:0031717	Alternating exotropia	A type of exotropia in which either eye may be used for fixation.
HP:0031718	Consecutive exotropia	Exotropia in an individual who has previously had esotropia or esophoria.
HP:0031719	True distance exotropia	Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.
HP:0031720	Simulated distance exotropia	Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.
HP:0031721	Sensory exotropia	A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.
HP:0031722	Near esotropia	An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.
HP:0031723	Secondary esotropia	Convergent squint which follows loss or impairment of vision.
HP:0031724	Microtropia	A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.
HP:0031725	Hypophoria	A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.
HP:0031726	Incyclotropia	A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.
HP:0031727	Excyclotropia	A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.
HP:0031728	Mild hypermetropia	A form of hypermetropia with not more than +2.00 diopters.
HP:0031729	Moderate hypermetropia	A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.
HP:0031730	Axial myopia	A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.
HP:0031731	Increased tear production	Increased lacrimation owing to overproduction of tears.
HP:0031732	Increased basal tear production	A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.
HP:0031733	Reflex tearing	A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).
HP:0031734	Lacrimal pump failure	A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.
HP:0031736	Involutional entropion	An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.
HP:0031737	Cicatricial entropion	Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.
HP:0031738	Mechanical entropion	A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.
HP:0031739	Abnormal oblique muscle physiology	A functional anomaly of the inferior or superior oblique muscle.
HP:0031740	Abnormal horizontal rectus muscle physiology	A functional anomaly of the medial rectus muscle or lateral rectus muscle.
HP:0031741	Inferior oblique muscle underaction	Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031742	Inferior rectus muscle underaction	Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031743	Inferior rectus muscle overaction	Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
HP:0031744	Superior rectus muscle weakness	Decreased strength of the superior rectus muscle.
HP:0031745	Superior rectus muscle overaction	Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
HP:0031746	Superior rectus muscle restriction	Mechanical limitation of the range of movement of the superior rectus muscle.
HP:0031747	Superior rectus muscle underaction	Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031748	Abnormal vertical rectus muscle physiology	A functional anomaly of the superior or inferior rectus muscle.
HP:0031749	Abnormal lateral rectus muscle physiology	A functional anomaly of the lateral rectus muscle.
HP:0031750	Lateral rectus muscle weakness	Decreased strength (ability to move) of the lateral rectus muscle.
HP:0031751	Lateral rectus muscle underaction	Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031752	Lateral rectus muscle overaction	Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
HP:0031753	Medial rectus muscle weakness	Decreased strength of the medial rectus muscle.
HP:0031754	Medial rectus muscle overaction	Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
HP:0031755	Abnormal rectus muscle physiology	A functional anomaly of a vertical or horizontal rectus muscle.
HP:0031756	Medial rectus muscle underaction	Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031757	Medial rectus muscle restriction	Mechanical limitation of the range of movement of the medial rectus muscle.
HP:0031758	Lateral rectus muscle restriction	Mechanical limitation of the range of movement of the lateral rectus muscle.
HP:0031759	Basic constant esotropia	A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).
HP:0031760	Non-accomodative esotropia	A form of esotropia in which the angle of deviation is not affected by accommodative effort.
HP:0031761	Infantile constant esotropia	Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.
HP:0031762	Distance esotropia	An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.
HP:0031763	Cyclic esotropia	Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.
HP:0031764	Fully accomodative esotropia	Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.
HP:0031765	Partially accomodative esotropia	A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.
HP:0031766	Convergence excess esotropia	An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.
HP:0031767	Consecutive esotropia	Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.
HP:0031768	Parafoveal fixation	Fixation of an object in the area adjacent to the fovea.
HP:0031769	Peripheral fixation	Fixation of an object in a peripheral area of the retina.
HP:0031770	Epicanthus palpebralis	A type of epicanthus in which a medial vertical fold is present between upper and lower lids.
HP:0031771	Epicanthus tarsalis	A type of epicanthus in which a primarily upper lid fold is present.
HP:0031772	Abnormal posterior circulating artery morphology	Any structural anomaly of the posterior circulating artery (PCOM).
HP:0031773	Posterior communicating artery aneurysm	A widening (ballooning) localized in the wall of the posterior communicating artery.
HP:0031774	Posterior communicating artery infundibulum	A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.
HP:0031775	Neurogenic strabismus	An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.
HP:0031776	Cyclotropia	A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).
HP:0031777	Cyclophoria	A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.
HP:0031778	Incyclophoria	A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.
HP:0031779	Excyclophoria	A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.
HP:0031780	Eosinophilic ascites	A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.
HP:0031781	Microtropia with identity	A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.
HP:0031782	Microtropia without identity	A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.
HP:0031783	Absent coronary sinus	A developmental defect in which the coronary sinus fails to form.
HP:0031784	Abnormal ascending aorta morphology	Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.
HP:0031785	Abnormal eyelid movement	An abnormality in voluntary or involuntary eyelid movements or their control.
HP:0031786	Cogan lid twitch	Transient eyelid retraction during refixation from down to straight ahead.
HP:0031787	Oblique astigmatism	Astigmatism in which the refractive power of the vertical meridian is the greatest.
HP:0031788	With the rule astigmatism	Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).
HP:0031789	Against the rule astigmatism	Astigmatism with more plus power on the horizontal meridian.
HP:0031790	Mixed astigmatism	A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).
HP:0031791	Lenticular astigmatism	A type of astigmatism related to an irregular shape of the lens.
HP:0031792	Irregular astigmatism	A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.
HP:0031793	Increased serum leptin	An increased concentration of leptin in the blood.
HP:0031794	Decreased circulating glycerol level	A decrease below the normal concentration of glycerol in the blood.
HP:0031795	Abnormal circulating glycerol level	Any deviation from the normal concentration of glycerol in the blood.
HP:0031796	Recurrent	Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.
HP:0031797	Clinical course	The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.
HP:0031798	Elevated circulating apolipoprotein B concentration	Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.
HP:0031799	Decreased circulating apolipoprotein A-I concentration	Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.
HP:0031800	Elevated circulating apolipoprotein A-II concentration	An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.
HP:0031801	Vocal cord dysfunction	Any functional anomaly of the vocal cord.
HP:0031803	Fundus hemorrhage	Bleeding within the fundus of the eye.
HP:0031804	Premacular hemorrhage	
HP:0031805	Intraretinal hemorrhage	A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.
HP:0031806	Abnormal basophil count	Any deviation from the normal number of basophils per volume in the blood circulation.
HP:0031807	Increased basophil count	An abnormally increased count of basophils per volume in the blood circulation.
HP:0031808	Decreased basophil count	An abnormally reduced count of basophils per volume in the blood circulation.
HP:0031809	Archibald's sign	Shortening of the fourth and fifth metacarpals when the fist is clenched.
HP:0031810	Anti-ganglioside antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.
HP:0031811	Bilirubinuria	Presence of conjugated bilirubin in the urine.
HP:0031812	Nitrituria	Presence of nitrites in the urine.
HP:0031813	Colonic eosinophilia	An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.
HP:0031814	Palilalia	Repetition of one's own words or phrases.
HP:0031815	Abnormal oral physiology	A functional anomaly of the mouth (which is also known as the oral cavity).
HP:0031816	Abnormal oral morphology	Any structural anomaly of the mouth, which is also known as the oral cavity.
HP:0031817	Decreased circulating parathyroid hormone level	An abnormally decreased concentration of parathyroid hormone.
HP:0031818	Abnormal waist to hip ratio	A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.
HP:0031819	Increased waist to hip ratio	Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
HP:0031820	Decreased waist to hip ratio	Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
HP:0031821	Abnormal hypoxanthine-guanine phosphoribosyltransferase level	Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
HP:0031822	Elevated hypoxanthine-guanine phosphoribosyltransferase level	Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
HP:0031823	Reduced hypoxanthine-guanine phosphoribosyltransferase level	Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
HP:0031824	Hepatic mastocytosis	Liver mast cell infiltration.
HP:0031825	Freezing of gait	Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.
HP:0031826	Abnormal reflex	Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).
HP:0031827	Absent abdominal reflex	Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.
HP:0031828	Abnormal superficial reflex	An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.
HP:0031829	Absent cremaster reflex	Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.
HP:0031830	Pinguecula	A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.
HP:0031831	Decreased serum zinc	A reduced concentration of zinc in the blood.
HP:0031832	Hypermetric downward saccades	Overshoot of downward saccadic eye movements.
HP:0031833	Hypometric upward saccades	Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
HP:0031834	Aortopulmonary collateral arteries	Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.
HP:0031835	Abnormal superoxide dismutase level	An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
HP:0031836	Increased superoxide dismutase level	Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
HP:0031837	Decreased superoxide dismutase level	Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
HP:0031838	Presence of xenobiotic	Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.
HP:0031840	Urine xenobiotic	The presence of a xenobiotic in urine.
HP:0031841	Positive urine methadone test	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.
HP:0031842	Lymphangiectasis	Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.
HP:0031843	Bradyphrenia	Abnormal slowness of thought processes.
HP:0031844	Euphoria	A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.
HP:0031845	Abnormal libido	Any deviation from the normal sexual drive or desire for sexual activity.
HP:0031846	Femur fracture	A break or crush injury of the thigh bone (femur).
HP:0031847	Difficulty walking backward	Reduced ability to walk (ambulate) in a backwards direction.
HP:0031848	Cock-walk gait	An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.
HP:0031849	Sleep-wake inversion	A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.
HP:0031850	Abnormal hematocrit	Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.
HP:0031851	Reduced hematocrit	A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.
HP:0031853	Isomerism	Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
HP:0031854	Left Isomerism	A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.
HP:0031855	Right isomerism	A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.
HP:0031856	Hobby horse gait	An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.
HP:0031857	Ineffective esophageal peristalsis	Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.
HP:0031858	Esophageal furrows	Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).
HP:0031860	Abnormal heart rate variability	Any abnormality in the variability of the time interval between successive heartbeats.
HP:0031861	Decreased heart rate variability	Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
HP:0031862	Increased heart rate variability	Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
HP:0031863	Bloodstream infectious agent	The presence of an infectious agent in the blood circulation.
HP:0031864	Bacteremia	Presence of viable bacteria in the blood.
HP:0031865	Abnormal liver physiology	Any functional anomaly of the liver.
HP:0031866	Clasp-knife sign	Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.
HP:0031867	Neck hypertonia	Increased passive stiffness or tightness of the neck musculature.
HP:0031868	Optic ataxia	Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.
HP:0031869	Recurrent joint dislocation	Dislocation of a given joint repeated times.
HP:0031870	Phosphohydroxylysinuria	An elevated concentration of phosphohydroxylysine in the urine.
HP:0031871	Abnormal Langerhans cell morphology	Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.
HP:0031872	Absent Birbeck granules in Langerhans cells	Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.
HP:0031873	Early chronotype	A tendency towards rising very early in the morning and going to bed early in the evening.
HP:0031874	Late chronotype	A tendency towards rising very late in the morning and going to bed late at night.
HP:0031875	Abnormal circulating hepcidin concentration	Any deviation from the normal concentration of hepcidin in the blood circulation.
HP:0031876	Decreased circulating hepcidin concentration	Concentration of hepcidin in the blood circulation below the lower limit of normal.
HP:0031877	Elevated circulating hepcidin concentration	Concentration of hepcidin in the blood circulation above the upper limit of normal.
HP:0031878	Acromicria	Small hands and feet in proportion to the rest of the body.
HP:0031879	Abnormal eyelid physiology	Any functional abnormality of the eyelid.
HP:0031880	Eyelid laxity	Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.
HP:0031881	Decreased tear drainage	A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.
HP:0031882	Agyria	A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.
HP:0031883	Increased proinsulin:insulin ratio	An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.
HP:0031884	Abnormal CSF glucose concentration	A deviation from normal concentration of glucose content in the cerebrospinal fluid.
HP:0031885	Hyperglycorrhachia	Abnormally high glucose concentration in the cerebrospinal fluid.
HP:0031886	Abnormal LDL cholesterol concentration	Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.
HP:0031887	Abnormal chylomicron concentration	Any deviation from the normal circulating concentration of chylomicrons.
HP:0031888	Abnormal HDL cholesterol concentration	Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.
HP:0031889	Abnormal VLDL cholesterol concentration	Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.
HP:0031890	Increased urine urobilinogen	An elevated concentration of urobilinogen in the urine.
HP:0031891	Decreased eosinophil count	Abnormal reduction in the count of eosinophils in the blood per volume.
HP:0031898	Rouleaux formation	Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.
HP:0031899	Abnormal coagulation factor V activity	Any deviation from the activity of coagulation factor V.
HP:0031901	Elevated total serum tryptase	An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.
HP:0031903	Abnormal circulating selenium concentration	Any deviation from the normal circulating concentration of selenium.
HP:0031904	Abnormal total hemolytic complement activity	Any deviation from the normal total hemolytic complement activity in the circulation.
HP:0031905	Increased total hemolytic complement activity	An abnormally elevated total hemolytic complement activity in the circulation.
HP:0031906	Decreased total hemolytic complement activity	An abnormally reduced total hemolytic complement activity in the circulation.
HP:0031907	Anti-mitochondrial M2 antibody positivity	The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.
HP:0031908	Micrographia	Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.
HP:0031909	Unicornuate uterus	A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.
HP:0031910	Abnormal cranial nerve physiology	A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
HP:0031911	Abnormal fifth cranial nerve physiology	
HP:0031912	Trigeminal anesthesia	Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.
HP:0031913	Rhombencephalosynapsis	Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.
HP:0031914	Fluctuating	Varying irregularly over time in severity, amount, or amplitude.
HP:0031915	Stable	This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.
HP:0031917	Digital ulcer	An open sore on the surface of the skin of a finger or toe.
HP:0031918	Ovarian sex cord-stromal tumor	A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
HP:0031919	Juvenile type ovarian granulosa cell tumor	Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.
HP:0031920	Malignant ovarian granulosa cell tumor	An aggressive granulosa cell tumor that arises from the ovary.
HP:0031921	Gastrocnemius myalgia	Pain of the gastrocnemius muscle.
HP:0031922	Renal artery duplication	The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.
HP:0031923	Hematocolpos	Accumulation of blood in the vagina usually due to vaginal obstruction.
HP:0031924	Rope sign	The presence of linear erythematous palpable cords, often on the lateral trunk.
HP:0031925	Rosette	A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.
HP:0031926	Homer Wright rosette	A type of rosette in which the central lumen or hub is filled with fiber-like processes.
HP:0031927	Flexner-Wintersteiner rosette	The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.
HP:0031928	True ependymal rosette	A type of rosette in which a halo of cells surrounds an empty lumen.
HP:0031929	Perivascular pseudorosette	A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.
HP:0031930	Neurocytic rosette	A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.
HP:0031931	Ocular flutter	Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.
HP:0031932	Aorto-left ventricular tunnel	Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.
HP:0031933	Aorto-right ventricular tunnel	The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.
HP:0031934	Abnormal descending aorta morphology	A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.
HP:0031935	Ascending aorta hypoplasia	Significant luminal narrowing of a long segment of or the entire ascending aorta.
HP:0031936	Delayed ability to walk	A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
HP:0031937	Tachylalia	Fast speech.
HP:0031938	Abnormal conus terminalis morphology	Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).
HP:0031939	Conus terminalis arteriovenous malformation	
HP:0031941	Abnormal portal venous system morphology	Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.
HP:0031942	Congenital absence of portal vein	Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.
HP:0031943	Akathisia	A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.
HP:0031944	Pleural thickening	An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.
HP:0031945	Elevated circulating N,N-dimethylglycine concentration	An increased concentration of N,N-dimethylglycine in the circulation.
HP:0031946	Elevated urinary N,N-dimethylglycine level	An increased concentration of N,N-dimethylglycine in the urine.
HP:0031947	Tongue tremor	An unintentional, oscillating to-and-fro muscle movement affecting the tongue.
HP:0031948	Snowball lesion of corpus callosum	Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.
HP:0031949	Recurrent bacterial upper respiratory tract infections	An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
HP:0031950	Usual interstitial pneumonia	Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.
HP:0031951	Nocturnal seizures	Seizures that occur while the affected individual is sleeping.
HP:0031952	Neurogenic claudication	Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.
HP:0031953	Cautious gait	Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.
HP:0031954	Dystonic gait	Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.
HP:0031955	Antalgic gait	To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.
HP:0031956	Elevated circulating aspartate aminotransferase concentration	An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
HP:0031957	Spastic hemiparetic gait	Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.
HP:0031958	Spastic paraparetic gait	A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.
HP:0031959	Leg dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.
HP:0031960	Arm dystonia	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
HP:0031961	Abnormal serum anion gap	Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.
HP:0031962	Elevated serum anion gap	An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).
HP:0031963	Decreased serum anion gap	An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).
HP:0031964	Elevated circulating alanine aminotransferase concentration	An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
HP:0031965	Increased RBC distribution width	Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.
HP:0031967	Cloudy urine	The appearance of the urine having visible material in suspension, i.e., appearing cloudy.
HP:0031969	Reduced blood urea nitrogen	An abnormally low concentration of urea nitrogen in the blood.
HP:0031970	Abnormal blood urea nitrogen concentration	Any deviation from the normal concentration of urea nitrogen in the blood.
HP:0031971	Subaortic ventricular septal bulge	A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.
HP:0031972	Presyncope	Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.
HP:0031973	Increased vertical cup-to-disc ratio	An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.
HP:0031974	Increased vertical cup-to-disc ratio - 0.6	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.6 (The normal cup-to-disc ratio is 0.3).
HP:0031975	Increased vertical cup-to-disc ratio - 0.7	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).
HP:0031976	Increased vertical cup-to-disc ratio - 0.8	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).
HP:0031977	Increased vertical cup-to-disc ratio - 0.9	Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).
HP:0031978	Increased vertical cup-to-disc ratio - 1.0	Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).
HP:0031979	Abnormal urine carbohydrate level	Any deviation from the normal concentration of a carbohydrate in the urine.
HP:0031980	Abnormal urine carboxylic acid level	Any deviation from the normal concentration of a carboxylic acid in the urine.
HP:0031981	Elevated urine glycolate	An increased concentration of glycolate in the urine.
HP:0031982	Abnormal putamen morphology	Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.
HP:0031983	Abnormal pulmonary thoracic imaging finding	This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.
HP:0031984	Esophageal food impaction	A piece of food that has gotten stuck in the esophagus and prevents further swallowing.
HP:0031985	Esophageal exudate	An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.
HP:0031986	Polyminimyoclonus	Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.
HP:0031987	Diminished ability to concentrate	Being unable to focus one's attention or mental effort on a particular object or activity.
HP:0031989	Perioral spasm	A sudden involuntary contraction of the musculature surrounding the mouth.
HP:0031990	Chvostek sign	A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.
HP:0031991	Increased urinary excretion of galactosyl hydroxylysine	An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.
HP:0031992	Apical hypertrophic cardiomyopathy	Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.
HP:0031993	Hoffmann sign	A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
HP:0031994	Bronchial breath sound	Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.
HP:0031995	Squawks	Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.
HP:0031996	Inspiratory crackles	Crackles that are heard during the inspiratory phase.
HP:0031997	Early inspiratory crackles	Crackles that appear at the beginning of inspiration and end before mid-inspiration.
HP:0031998	Late inspiratory crackles	Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.
HP:0031999	Expiratory crackles	Crackles that occur during expiration.
HP:0032000	Pleural rub	An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles
HP:0032001	Pink urine	An abnormal pink color of urine.
HP:0032002	Orange urine	An abnormal orange color of urine.
HP:0032003	Green urine	An abnormal green color of urine.
HP:0032004	Pruritus vulvae	A sensation of itching in the vulvar region.
HP:0032005	Hemidystonia	Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.
HP:0032006	Lip tremor	An unintentional, oscillating to-and-fro muscle movement affecting the lip.
HP:0032007	Maceration	A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.
HP:0032008	Pulmonary fat embolism	The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.
HP:0032009	Infantile constant exotropia	Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.
HP:0032010	Basic constant exotropia	Constant exotropia for near and distance, presenting after 6 months of age.
HP:0032011	Heterophoria	Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.
HP:0032012	Heterotropia	Manifest deviation of the visual axes not controlled by fusion.
HP:0032013	Hypermetric horizontal saccades	Overshoot of horizontal (sideways) saccadic eye movements.
HP:0032014	Dysmetric vertical saccades	Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.
HP:0032015	Dysmetric horizontal saccades	Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.
HP:0032016	Abnormal sputum	Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.
HP:0032017	Sputum eosinophilia	An increased proportion of eosinophils in sputum in the differentiated cell count.
HP:0032018	Multiple mononeuropathy	A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.
HP:0032019	Muscle eosinophilia	Eosinophil infiltration of skeletal muscle.
HP:0032020	Eosinophilic bladder infiltration	Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.
HP:0032021	Eosinophilic liver infiltration	Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.
HP:0032022	Eosinophilic dermal infiltration	Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.
HP:0032023	Eosinophilic gallbladder infiltration	Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.
HP:0032024	Ileal ulcer	An erosion of the mucous membrane in a portion of the ileum.
HP:0032025	Reduced serum alpha-1-antitrypsin	A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
HP:0032026	Anetoderma	Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.
HP:0032027	Retinal dots	Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.
HP:0032028	Macular dots	Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.
HP:0032029	Floppy eyelid	Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.
HP:0032030	Lateral canthal tendon laxity	Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.
HP:0032031	Medial canthal tendon laxity	Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.
HP:0032032	Horizontal eyelid laxity	Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.
HP:0032033	Vertical eyelid laxity	Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.
HP:0032034	Upper eyelid laxity	Abnormally lax upper eyelid associated with tissue relaxation.
HP:0032035	Lower eyelid laxity	Abnormally lax lower eyelid associated with tissue relaxation.
HP:0032036	Reduced contrast sensitivity	An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.
HP:0032037	Mildly reduced visual acuity	Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).
HP:0032039	Abnormality of the ocular adnexa	An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
HP:0032040	Abnormal ocular adnexa physiology	A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
HP:0032041	Vocal cord polyp	A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.
HP:0032043	Odynophagia	Pain experienced with swallowing.
HP:0032044	Decreased vigilance	A reduction in the ability to maintain sustained attention characterized by reduced alertness.
HP:0032045	Hypoplastic carotid canal	Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.
HP:0032046	Focal cortical dysplasia	A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.
HP:0032047	Focal cortical dysplasia type I	A type of focal cortical dysplasia that is characterized by abnormal cortical layering.
HP:0032048	Focal cortical dysplasia type Ia	A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.
HP:0032049	Focal cortical dysplasia type Ib	A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.
HP:0032050	Focal cortical dysplasia type Ic	A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.
HP:0032051	Focal cortical dysplasia type II	A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.
HP:0032052	Focal cortical dysplasia type IIa	A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.
HP:0032053	Focal cortical dysplasia type IIb	A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.
HP:0032054	Focal cortical dysplasia type III	A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.
HP:0032055	Focal cortical dysplasia type IIIa	A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).
HP:0032056	Focal cortical dysplasia type IIIb	A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.
HP:0032057	Focal cortical dysplasia type IIIc	A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).
HP:0032058	Focal cortical dysplasia type IIId	A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.
HP:0032059	Mild malformation of cortical development	A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.
HP:0032060	Epithelioid hemangioma	A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.
HP:0032061	Hypereosinophilia	A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.
HP:0032062	Mallory-Weiss tear	Vomiting-induced mucosal laceration at the esophago-gastric junction.
HP:0032063	Ankle joint effusion	Abnormal accumulation of fluid in or around the ankle joint.
HP:0032064	Gastrointestinal eosinophilia	Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.
HP:0032065	Abnormal serum bicarbonate concentration	Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.
HP:0032066	Decreased serum bicarbonate concentration	An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.
HP:0032067	Elevated serum bicarbonate concentration	An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.
HP:0032068	Increased urinary mucus	An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.
HP:0032069	Anti-thyroglobulin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
HP:0032070	Leptomeningeal enhancement	Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.
HP:0032071	Eosinophilic pneumonia	The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.
HP:0032072	Popliteal synovial cyst	A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.
HP:0032073	Aplasia of the fallopian tube	Aplasia, that is failure to develop, of the fallopian tube.
HP:0032075	Splenopancreatic fusion	Fusion of the pancreatic tail and spleen.
HP:0032076	Abnormal male urethral meatus morphology	
HP:0032077	Male urethral meatus stenosis	An abnormal narrowing of the urethral opening (meatus) of the penis.
HP:0032078	Angel-shaped phalanx	A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).
HP:0032079	Medial degeneration	Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.
HP:0032081	Intralamellar mucoid extracellular matrix accumulation	A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.
HP:0032082	Translamellar mucoid extracellular matrix accumulation	A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.
HP:0032083	Aortic elastic fiber fragmentation	Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.
HP:0032084	Aortic elastic fiber thinning	A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.
HP:0032085	Aortic elastic fiber disorganization	Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.
HP:0032086	Aortic smooth muscle cell nuclei loss	A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.
HP:0032087	Aortic laminar medial collapse	Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.
HP:0032088	Aortic smooth muscle cell disorganization	Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.
HP:0032089	Aortic medial fibrosis	An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).
HP:0032090	Intralamellar aortic medial fibrosis	A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.
HP:0032091	Translamellar aortic medial fibrosis	A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.
HP:0032092	Left ventricular outflow tract obstruction	Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.
HP:0032094	Increased circulating surfactant protein level	An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.
HP:0032096	Abnormal manganese concentration	A deviation from the normal range of manganese in the blood circulation.
HP:0032097	Hypermanganesemia	An elevation above the normal concentration of manganese in the blood.
HP:0032098	Hypomanganesemia	A reduction below the normal concentration of manganese in the blood.
HP:0032099	Perioral radial furrowing	The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).
HP:0032100	Abnormal doll's eye reflex	The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.
HP:0032101	Unusual infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.
HP:0032102	Wilson sign	Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.
HP:0032104	Saccadic oscillation	An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.
HP:0032105	Macrosaccadic oscillations	A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.
HP:0032106	Conjunctival icterus	Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.
HP:0032107	Limbal stem cell deficiency	A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.
HP:0032108	Mildly reduced contrast sensitivity	A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.
HP:0032109	Moderately reduced contrast sensitivity	A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.
HP:0032110	Severely reduced contrast sensitivity	A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.
HP:0032111	Abnormal Vistech contrast sensitivity test	An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.
HP:0032112	Abnormal Pelli Robson contrast sensitivity chart test	An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.
HP:0032113	Semidominant inheritance	A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.
HP:0032114	Saccadic intrusion	An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.
HP:0032116	Macrosquare-wave jerks	Horizontal 10-40 degree excursions from fixation and back again.
HP:0032118	Retinitis	Inflammation of the retina of the eye.
HP:0032120	Abnormal peripheral nervous system physiology	Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.
HP:0032121	Froment sign	An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.
HP:0032122	Very low visual acuity	A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).
HP:0032123	Ultra-low vision	Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).
HP:0032124	Abnormal proportion of unswitched memory B cells	A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.
HP:0032125	Increased proportion of unswitched memory B cells	An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.
HP:0032126	Decreased proportion of unswitched memory B cells	A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.
HP:0032127	Abnormal plasmablast proportion	A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.
HP:0032128	Increased proportion of plasmablasts	An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.
HP:0032129	Decreased proportion of plasmablasts	A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.
HP:0032130	Mycobacterium abscessus abscessus infection	Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.
HP:0032131	Cervical dysplasia	Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.
HP:0032132	Decreased circulating total IgG	A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0032133	Transient decreased circulating total IgG	A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0032134	Chronic decreased circulating total IgG	A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0032135	Decreased circulating IgG subclass level	A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.
HP:0032136	Decreased circulating IgG1 level	A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.
HP:0032137	Decreased circulating IgG3 level	A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.
HP:0032138	Decreased circulating IgG4 level	A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.
HP:0032139	Reduced isohemagglutinin level	Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
HP:0032140	Decreased specific antibody response to vaccination	A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
HP:0032141	Precordial pain	A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.
HP:0032142	Fetor hepaticus	Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.
HP:0032143	Burning mouth	An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.
HP:0032144	Coffee ground vomitus	Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.
HP:0032145	Sural nerve atrophy	Wasting of the sural nerve, a sensory nerve in the calf region of the leg.
HP:0032146	HbC hemoglobin	Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.
HP:0032147	Erythromelalgia	Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.
HP:0032148	Episodic pain	Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.
HP:0032149	Breakthrough pain	A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.
HP:0032150	Paroxysmal rectal pain	Excruciating burning pain in the rectal area that may be triggered by defecation.
HP:0032151	Episodic eosinophilia	Recurrent episodes of marked eosinophilia that resolve spontaneously.
HP:0032152	Keratosis pilaris	An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
HP:0032153	Joint subluxation	A partial dislocation of a joint.
HP:0032154	Aphthous ulcer	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
HP:0032155	Abdominal cramps	A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.
HP:0032156	Skin detachment	Loss of sections of skin either spontaneously or after gentle handling.
HP:0032157	Recurrent genital herpes	Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.
HP:0032158	Unusual infection by anatomical site	An unusual infection classified by the affected body part.
HP:0032159	Fungal meningitis	An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.
HP:0032160	Cryptococcal meningitis	A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.
HP:0032161	Coccidioidal meningitis	A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.
HP:0032162	Unusual skin infection	A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.
HP:0032163	Molluscum contagiosum	Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.
HP:0032164	Increased blood folate concentration	An elevated circulating concentration of folic acid, which is also known as vitamin B9.
HP:0032165	Placental mesenchymal dysplasia	Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.
HP:0032166	Unusual gastrointestinal infection	
HP:0032167	Clostridium difficile enteritis	An infection of the small intestine (enteritis) by clostridium difficile.
HP:0032168	Clostridium difficile colitis	An infection of the colon (colitis) by clostridium difficile.
HP:0032169	Severe infection	A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.
HP:0032170	Severe varicella zoster infection	An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
HP:0032171	Bladder pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.
HP:0032172	Air crescent sign	A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.
HP:0032173	Continuous diaphragm sign	This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.
HP:0032174	Tree-in-bud pattern	The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).
HP:0032175	Signet ring sign	This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.
HP:0032176	Apical pulmonary opacity	An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.
HP:0032177	Parenchymal consolidation	Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).
HP:0032178	Flaky paint dermatosis	A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).
HP:0032179	Abnormal circulating globulin concentration	An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.
HP:0032180	Abnormal circulating metabolite concentration	An abnormal level of an analyte measured in the blood.
HP:0032181	Anomalous hepatic venous drainage into the left atrium	An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.
HP:0032182	Abnormal proportion of memory T cells	An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.
HP:0032183	Decreased proportion of memory T cells	An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.
HP:0032184	Increased proportion of memory T cells	An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.
HP:0032185	Disseminated molluscum contagiosum	The presense of molluscum contagiosum lesions across multiple areas of the body.
HP:0032186	Anal neoplasm	A benign or malignant neoplasm that affects the anal canal or anal margin.
HP:0032187	Anal intraepithelial neoplasia	Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.
HP:0032188	Cellular hypersensitivity to mitomycin C	An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.
HP:0032189	Cellular hypersensitivity to diepoxybutane	An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.
HP:0032190	Abnormal meniscus morphology	Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.
HP:0032191	Torn meniscus	A tear in the cartilaginous pad (meniscus) of the knee.
HP:0032192	Hydatidiform mole	Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.
HP:0032193	Decreased low-density lipoprotein particle size	An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.
HP:0032195	Abnormal S wave	Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.
HP:0032196	Prominent S wave in lead I	Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.
HP:0032197	Deep S wave in lead V5	Abnormal depth of the S wave in lead V5 of the electrocardiogram.
HP:0032198	Decreased prothrombin time	Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
HP:0032199	Abnormal prothrombin time	Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
HP:0032200	Perivascular fibrosis	The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.
HP:0032201	Rotator cuff tear	The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.
HP:0032202	Vulvar intraepithelial neoplasia	Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.
HP:0032203	Lymphoid nodular hyperplasia	Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).
HP:0032204	Chronic active Epstein-Barr virus infection	Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.
HP:0032205	Increased circulating galectin-3 level	An increased circulation of galectin-3 in the blood circulation.
HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.
HP:0032209	Abnormal circulating free T3 concentration	A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.
HP:0032210	Decreased circulating free T3	A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
HP:0032211	Increased urinary epithelial cell count	An increased number of epithelial cells per high-power field in urinanalysis.
HP:0032212	Increased urinary squamous epithelial cell count	An increased number of squamous epithelial cells per high-power field in urinanalysis.
HP:0032213	Increased urinary renal tubular epithelial cell count	An increased number of renal tubular epithelial cells per high-power field in urinanalysis.
HP:0032214	Increased urinary transitional epithelial cell count	An increased number of transitional epithelial cells per high-power field in urinanalysis.
HP:0032215	Disseminated cutaneous warts	Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.
HP:0032216	Lymphocytic infiltration of the colorectal mucosa	Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.
HP:0032217	Indurated nodule	A skin nodule that is unusually hard (indurated).
HP:0032218	Decreased proportion of CD4-positive T cells	A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.
HP:0032219	Increased proportion of CD4-positive T cells	An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.
HP:0032220	Interface hepatitis	Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.
HP:0032221	Periportal emperipolesis	The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.
HP:0032222	Serrated intestinal polyps	The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.
HP:0032223	Blood group	Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.
HP:0032224	ABO blood group	The ABO system consists of A and B antigens and antibodies against these antigens.
HP:0032225	Perifollicular fibroma	Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.
HP:0032226	Abnormal sebaceous gland morphology	Any structural anomaly of the sebaceous glands.
HP:0032227	Sebaceous hyperplasia	A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.
HP:0032228	Trichodiscoma	A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.
HP:0032229	Perinuclear antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
HP:0032230	Cytoplasmic antineutrophil antibody positivity	The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.
HP:0032231	Hypochromia	A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
HP:0032232	Increased circulating creatine kinase MB isoform	An increased concentration of the MB isoform of creatine kinase in the blood circulation.
HP:0032233	Increased circulating creatine kinase BB isoform	An increased concentration of the BB isoform of creatine kinase in the blood circulation.
HP:0032234	Increased circulating creatine kinase MM isoform	An increased concentration of the MM isoform of creatine kinase in the blood circulation.
HP:0032235	Anti-La/SS-B antibody positivity	The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.
HP:0032236	Increased circulating immature neutrophil count	An abnormally increased number of immature neutrophils in the peripheral blood circulation.
HP:0032237	Increased circulating myelocyte count	An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.
HP:0032238	Increased circulating metamyelocyte count	An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.
HP:0032239	Increased circulating band cell count	An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2.
HP:0032240	Elevated circulating E selectin level	An increased concentration of E selectin in the blood circulation.
HP:0032241	Cervical neoplasm	A tumor (abnormal growth of tissue) of the uterine cervix.
HP:0032242	Cervical intraepithelial neoplasia	A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.
HP:0032243	Abnormal tissue metabolite concentration	Any deviation from the normal concentration of a metabolite in a tissue.
HP:0032244	Decreased serum thromboxane B2	A reduction in the concentration of thromboxane B2 in the blood circulation.
HP:0032245	Abnormal metabolism	An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.
HP:0032247	Persistent CMV viremia	Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.
HP:0032248	Persistent viremia	Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.
HP:0032249	Coccidioidomycosis	Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.
HP:0032250	Acinetobacter infection	An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.
HP:0032251	Abnormal immune system morphology	
HP:0032252	Granuloma	A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.
HP:0032253	Eosinophilic granuloma	A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.
HP:0032254	Increased circulating copper concentration	An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.
HP:0032255	Opportunistic fungal infection	An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
HP:0032256	Histoplasmosis	Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.
HP:0032257	Disseminated histoplasmosis	Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.
HP:0032258	Pulmonary histoplasmosis	Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.
HP:0032259	Chronic tinea infection	The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.
HP:0032260	Opportunistic bacterial infection	An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
HP:0032261	Nontuberculous mycobacterial pulmonary infection	An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.
HP:0032262	Pulmonary tuberculosis	A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.
HP:0032263	Increased blood pressure	Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.
HP:0032264	Anti-NMDA receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.
HP:0032265	CSF autoimmune antibody positivity	The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.
HP:0032266	CSF anti-NMDA receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.
HP:0032267	Empty delta sign	This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.
HP:0032268	Dural tail sign	This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.
HP:0032269	Lemon sign	The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.
HP:0032270	Optic nerve tram-track sign	A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.
HP:0032271	Extrapulmonary tuberculosis	A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.
HP:0032272	Elevated urinary N-acetylaspartic acid level	Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.
HP:0032273	Increased circulating N-acetylaspartic acid concentration	Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.
HP:0032274	Increased CSF N-acetylaspartic acid concentration	An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).
HP:0032275	Recurrent shingles	Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.
HP:0032276	Prominent subcalcaneal fat pad	Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.
HP:0032277	Lozenge-shaped umbilicus	
HP:0032278	2-hydroxyglutarate aciduria	An increase in the level of 2-hydroxyglutaric acid in the urine.
HP:0032281	Abnormal base excess	Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).
HP:0032282	Contact dermatitis	An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.
HP:0032283	Disseminated nontuberculous mycobacterial infection	An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.
HP:0032284	Ultra-low vision with retained motion projection	Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).
HP:0032285	Ultra-low vision with retained light projection	Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.
HP:0032286	Ultra-low vision with retained light perception	Ultra-low vision but with retained ability to perceive the difference between light and dark.
HP:0032287	Ultra-low vision with no light perception	Ultra-low vision with complete lack of light and form perception.
HP:0032288	Polyclonal elevation of circulating IgG	An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.
HP:0032289	Oligoclonal elevation of circulating IgG	An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
HP:0032290	Monoclonal elevation of IgG	An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
HP:0032291	Monoclonal elevation of intact IgG	A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.
HP:0032292	Monoclonal elevation of IgG light chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.
HP:0032293	Monoclonal elevation of IgG heavy chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.
HP:0032294	Monoclonal elevation of IgG kappa chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.
HP:0032295	Monoclonal elevation of IgG lambda chain	A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.
HP:0032296	Increased circulating IgG subclass	An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.
HP:0032297	Increased circulating IgG3 level	An abnormally increased concentration of the IgG3 subtype in the blood circulation.
HP:0032298	Increased circulating IgG1 level	An abnormally increased concentration of the IgG1 subtype in the blood circulation.
HP:0032299	Increased circulating IgG2 level	An abnormally increased concentration of the IgG2 subtype in the blood circulation.
HP:0032300	Increased circulating IgG4 level	An abnormally increased concentration of the IgG4 subtype in the blood circulation.
HP:0032301	Genital warts	Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.
HP:0032302	Kappa Bence Jones proteinuria	The presence of free monoclonal kappa immunoglobulin light chains in the urine.
HP:0032303	Lambda Bence Jones proteinuria	The presence of free monoclonal lambda immunoglobulin light chains in the urine.
HP:0032304	Abnormal circulating mannose-binding protein concentration	Any deviation from the normal concentration of mannose-binding protein in the blood circulation.
HP:0032305	Decreased circulating mannose-binding protein concentration	Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.
HP:0032306	Increased circulating mannose-binding protein concentration	Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.
HP:0032308	Increased circulating procalcitonin concentration	An elevated concentration of procalcitonin in the blood circulation.
HP:0032309	Abnormal granulocyte count	Any deviation from the normal cell count per volume of granulocytes in the blood circulation.
HP:0032310	Granulocytosis	An increased count of granulocytes in the peripheral blood circulation.
HP:0032311	Increased circulating globulin level	An abnormally elevated concentration of globulins in the blood.
HP:0032312	Decreased circulating globulin level	An abnormally reduced concentration of globulins in the blood.
HP:0032313	Frontotemporal hypertrichosis	Excessive, increased hair growth located in the region of the forehead and temple.
HP:0032314	Abnormal areolar morphology	An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.
HP:0032315	Areolar fullness	The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.
HP:0032316	Family history	Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.
HP:0032317	Family history of cancer	A close blood relative had cancer.
HP:0032318	Family history of heart disease	A close blood relative had heart disease.
HP:0032319	Health status	Health status of a family member with respect to the disease being investigated in a proband.
HP:0032320	Affected	This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).
HP:0032321	Unaffected	This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.
HP:0032322	Healthy	No history of any serious disease, including the disease being investigated in the proband.
HP:0032323	Periodic fever	Episodic fever that recurs at regular intervals.
HP:0032324	Non-periodic recurrent fever	Episodic fever that recurs at irregular intervals.
HP:0032325	Lacunar stroke	A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.
HP:0032326	Methicillin-resistant Staphylococcus aureus infection	Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.
HP:0032327	Interhemispheric cyst	Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.
HP:0032328	Temporomandibular joint adhesion	Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.
HP:0032329	Increased urinary 11-deoxycortisol level	An abnormally elevated concentration of 11-deoxycortisol in the urine.
HP:0032330	Increased urinary 11-deoxycorticosterone level	An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.
HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.
HP:0032332	Oligoclonal elevation of circulating IgM	An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.
HP:0032333	Polyclonal elevation of circulating IgA	A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.
HP:0032334	Oligoclonal elevation of circulating IgA	An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
HP:0032335	Monoclonal elevation of circulating IgA	An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
HP:0032336	Increased circulating specific IgE antibody	
HP:0032337	Monoclonal elevation of circulating IgE	An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
HP:0032338	Oligoclonal elevation of circulating IgE	An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
HP:0032339	Polyclonal elevation of circulating IgE	A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.
HP:0032341	Reduced forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal inspiration.
HP:0032342	Reduced forced expiratory volume in one second	An abnormal reduction in the amount of air a person can forcefully expel in one second.
HP:0032344	Upslanting toenail	Upturned concavity of toenails.
HP:0032345	Elevated cancer Ag 19-9 level	An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.
HP:0032346	Cutaneous lichen amyloidosis	Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.
HP:0032347	Cutaneous macular amyloidosis	A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.
HP:0032348	Cutaneous nodular amyloidosis	A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.
HP:0032349	Serinuria	A increased concentration of serine in the urine.
HP:0032350	Sulfocysteinuria	A increased concentration of sulfocysteine in the urine.
HP:0032351	Phenylalaninuria	Increased level of phenylalanine in urine.
HP:0032352	Methioninuria	Increased level of methionine in urine.
HP:0032353	Leucinuria	Increased level of leucine in urine.
HP:0032355	Decreased peak expiratory flow	A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.
HP:0032356	Decreased pre-bronchodilator forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.
HP:0032357	Decreased post-bronchodilator forced vital capacity	An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.
HP:0032358	Decreased post-bronchodilator forced expiratory volume in one second	An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.
HP:0032359	Decreased forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.
HP:0032360	Decreased pre-bronchodilator forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.
HP:0032361	Decreased post-bronchodilator forced expiratory flow 25-75%	A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.
HP:0032362	Increased circulating corticosterone level	An abnormally elevated concentration of corticosterone in the blood.
HP:0032363	Decreased circulating corticosterone level	An abnormally reduced concentration of corticosterone in the blood.
HP:0032365	Exacerbated by aspirin ingestion	Applied to a sign or symptom that is worsened by ingestion of aspirin.
HP:0032366	Positive direct antiglobulin test	A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.
HP:0032367	Abnormal growth hormone level	Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.
HP:0032368	Acidemia	An abnormally low blood pH (usually defined as less than 7.35).
HP:0032369	Alkalemia	An abnormally high blood pH (usually defined as 7.41 or above).
HP:0032370	Blood group A	ABO phenotype A, corresponding to the genotype AO or AA.
HP:0032371	Isoleucinuria	An increased concentration of isoleucine in the urine.
HP:0032372	Increased peripheral blast count	An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.
HP:0032373	Duffy blood group	The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.
HP:0032374	Duffy Fya positivity	Presence of the Duffy Fya antigen.
HP:0032375	Duffy Fyb positivity	Presence of the Duffy Fyb antigen.
HP:0032376	Anti-beta 2 glycoprotein I antibody positivity	Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).
HP:0032377	Increased urinary orosomucoid	An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.
HP:0032378	Immediate-type hypersensitivity drug reaction	Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.
HP:0032379	Polymorphous light eruption	The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.
HP:0032381	Hydroa vacciniforme	In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.
HP:0032382	Uniparental disomy	Inheritance of both homologues of a chromosome pair from the same parent.
HP:0032383	Uniparental heterodisomy	A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.
HP:0032384	Uniparental isodisomy	A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.
HP:0032385	Abnormal circulating transferrin concentration	Any deviation from the normal concentration of transferrin in the blood circulation.
HP:0032386	Elevated circulating transferrin concentration	An abnormally increased concentration of transferrin in the blood circulation.
HP:0032387	Reduced circulating transferrin concentration	An abnormally decreased concentration of transferrin in the blood circulation.
HP:0032388	Periventricular nodular heterotopia	Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
HP:0032389	Periventricular laminar heterotopia	A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.
HP:0032390	Periventricular ribbonlike heterotopia	Heterotopia that forms a continuous wavy line along the ventricular wall.
HP:0032391	Subcortical heterotopia	A form of heterotopia were the mislocalized gray matter is located deep within the white matter.
HP:0032392	Nodular subcortical heterotopia in peritrigonal regions	Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.
HP:0032393	Diffuse ribbon-like subcortical heterotopia	Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.
HP:0032394	Mesial parasagittal subcortical heterotopia	Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.
HP:0032395	Curvilinear subcortical heterotopia	Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.
HP:0032396	Transmantle columnar heterotopia	Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.
HP:0032397	Citrullinuria	An increased concentration of citrulline in the urine.
HP:0032398	Dysgyria	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.
HP:0032399	Dysgyria with normal cortical thickness	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.
HP:0032400	Dysgyria with thickened cortex	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.
HP:0032401	Aspartic aciduria	A increased concentration of aspartic acid in the urine.
HP:0032403	Asparaginuria	An increased concentration of asparagine in the urine.
HP:0032404	Testicular mass	An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.
HP:0032405	Increased urinary phosphoserine level	An increased level of phosphoserine in the urine.
HP:0032406	Unilateral perisylvian polymicrogyria	A type of perisylvian polymicrogyria that largely affects one side of the brain.
HP:0032407	Bilateral perisylvian polymicrogyria	A type of perisylvian polymicrogyria that affects both sides of the brain.
HP:0032408	Breast mass	A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.
HP:0032409	Subcortical band heterotopia	A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.
HP:0032410	Bilateral generalized polymicrogyria	Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.
HP:0032411	Posterior predominant subcortical band heterotopia	Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.
HP:0032412	Anterior predominant subcortical band heterotopia	Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.
HP:0032413	Diffuse subcortical band heterotopia	Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.
HP:0032414	Hydroxylysinuria	The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.
HP:0032415	Parasagittal parieto-occipital polymicrogyria	Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.
HP:0032416	Retinal microaneurysm	A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.
HP:0032417	Periglomerular fibrosis	Circumferential fibrosis in the interstitium surrounding Bowman's capsule
HP:0032418	Abnormal HDL subfraction concentration	An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).
HP:0032419	Abnormal HDL2a concentration	Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.
HP:0032420	Increased HDL2a concentration	An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.
HP:0032421	Decreased HDL2a concentration	A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.
HP:0032422	Abnormal HDL2b concentration	Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm.
HP:0032423	Decreased HDL2b concentration	A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.
HP:0032424	Increased HDL2b concentration	An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.
HP:0032425	Abnormal HDL3a concentration	Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.
HP:0032426	Abnormal HDL3b concentration	Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.
HP:0032427	Abnormal HDL3c concentration	Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.
HP:0032428	Increased HDL3a concentration	An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.
HP:0032429	Decreased HDL3a concentration	A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.
HP:0032430	Increased HDL3b concentration	An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.
HP:0032431	Decreased HDL3b concentration	A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.
HP:0032432	Increased HDL3c concentration	An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.
HP:0032433	Decreased HDL3c concentration	A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.
HP:0032434	Delayed umbilical cord separation	Separation of the umbilical cord occurs at an abnormally late timepoint.
HP:0032435	Neonatal omphalitis	An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.
HP:0032436	Abnormal circulating C-reactive protein concentration	Any deviation from the normal concentration of C-reactive protein in the blood circulation.
HP:0032437	Reduced circulating C-reactive protein concecntration	An abnormal decrease of the C-reactive protein level in serum.
HP:0032438	Platelet anisocytosis	Abnormally increased variability in the size of platelets.
HP:0032439	Airborn particle hypersensitivity	An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.
HP:0032440	Blood group B	ABO phenotype B, corresponding to the genotype BO or BB.
HP:0032441	Blood group AB	ABO phenotype AB, corresponding to the genotype AB.
HP:0032442	Blood group O	ABO phenotype O, corresponding to the genotype OO.
HP:0032443	Past medical history	In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.
HP:0032444	Status post organ transplantation	The affected individual has received an organ transplant previous to the current medical encounter.
HP:0032445	Pulmonary cyst	A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.
HP:0032446	Pulmonary bulla	Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.
HP:0032447	Pulmonary bleb	A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.
HP:0032448	Achlorhydria	A condition in which production of hydrochloric acid in the stomach is absent.
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.
HP:0032450	Positive blood arsenic test	Detection of arsenic in the blood circulation.
HP:0032451	Oral melanotic macule	Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.
HP:0032452	Oral melanoacanthoma	Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.
HP:0032453	Abnormal lip pigmentation	Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.
HP:0032454	Labial melanotic macule	Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.
HP:0032455	Reduced granulocyte CD18 level	Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.
HP:0032456	Unlayered lissencephaly	A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.
HP:0032457	2-3-layered lissencephaly	Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.
HP:0032458	Narrowing of medullary canal	A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.
HP:0032459	Abnormal phosphoribosylpyrophosphate synthetase level	Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
HP:0032460	Decreased phosphoribosylpyrophosphate synthetase level	Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
HP:0032462	Increased circulating palmitate level	An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.
HP:0032463	Reduced circulating fibronectin level	A reduction below the normal concentration of fibronectin the the blood circulation.
HP:0032464	Ureteral hypoplasia	Underdevelopment of the ureter.
HP:0032465	Bladder trabeculation	Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.
HP:0032466	Aplasia of the olfactory bulb	Lack of formation (congenital absence) of the olfactory bulb.
HP:0032467	Past obstetric history	Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.
HP:0032468	History of stillbirth	One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).
HP:0032469	Anti-asialoglycoprotein receptor antibody positivity	Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.
HP:0032470	Monilethrix	The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.
HP:0032471	Focal polymicrogyria	Polymicrogyria affecting one or multiple small areas of the cerebral cortex.
HP:0032472	Abnormal urine urobilinogen level	An abnormal concentration of urobilinogen in the urine.
HP:0032473	Decreased urine urobilinogen	An abnormally reduced concentration of urobilinogen in the urine.
HP:0032475	6-layered lissencephaly	
HP:0032476	Abnormal circulating vitamin B6 level	An abnormal concentration of vitamin B6 in the blood circulation.
HP:0032477	Elevated circulating vitamin B6 level	An abnormally increased concentration of vitamin B6 in the blood circulation.
HP:0032478	Lateral spinal meningocele	Protrusion of the arachnoid and dura through spinal foramina.
HP:0032479	Preimplantation lethality	It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.
HP:0032480	Beta-aminoisobutyric aciduria	An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.
HP:0032481	Abnormal pituitary glycoprotein hormone alpha subunit level	Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).
HP:0032482	Decreased pituitary glycoprotein hormone alpha subunit level	An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).
HP:0032484	Elevated fecal sodium	An elevated concentration of sodium in feces.
HP:0032485	Abnormal fecal osmolality	Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.
HP:0032486	Elevated fecal osmolality	Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.
HP:0032487	Reduced fecal osmolality	Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.
HP:0032488	Abnormal fecal pH	Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.
HP:0032489	Elevated fecal pH	Abnormally high fecal pH, i.e., abnormal alkalinity of feces.
HP:0032490	Decreased fecal pH	Abnormally low fecal pH, i.e., abnormal acidity of feces.
HP:0032491	Increased circulating argininosuccinic acid	An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.
HP:0032492	Anti-myelin oligodendrocyte glycoprotein antibody positivity	Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.
HP:0032493	Increased circulating trypsinogen	An abnormally high concentration of trypsinogen in the blood circulation.
HP:0032495	Abnormal terminal:vellus ratio	A deviation from the normal proportion of terminal to vellus hairs.
HP:0032496	Elevated terminal:vellus ratio	An increased proportion of terminal hairs compared to vellus hairs.
HP:0032497	Reduced terminal:vellus ratio	A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.
HP:0032499	Giant neutrophil granules	The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.
HP:0032500	Exacerbated by tobacco use	Applied to a sign or symptom that is worsened by smoking tobacco products.
HP:0032501	Exacerbated by contraceptive medication	Applied to a sign or symptom that is worsened by taking contraceptive medication.
HP:0032502	Exacerbated by barbiturate medication	Applied to a sign or symptom that is worsened by taking barbituates.
HP:0032503	Ameliorated by ethanol ingestion	Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).
HP:0032504	Lhermitte's sign	An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.
HP:0032505	Hydrophobia	Pharyngeal spasms provoked by an attempt to drink.
HP:0032506	Alien limb phenomenon	Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.
HP:0032507	Labiomental fasciculations	Fasciculations affecting the tongue muscle and the musculature of the chin.
HP:0032508	Polyembolokoilamania	Habitual insertion of foreign bodies into bodily orifices.
HP:0032509	Onychotillomania	Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.
HP:0032510	Tendon pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.
HP:0032511	Superiorly positioned umbilicus	The position of the umbilicus (belly button) is abnormally high (superior).
HP:0032513	Four-vessel umbilical cord	Four-vessel umbilical cord containing two arteries and two veins.
HP:0032514	Duplicated lacrimal punctum	A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face.
HP:0032515	Deep dermatophytosis	A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.
HP:0032516	Invasive dermatophyte infection	Infection that extends deeply into the dermins by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.
HP:0032517	Majocchi's granuloma	Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.
HP:0032518	Disseminated dermatophytosis	A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.
HP:0032519	Increased Burr cell count	Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.
HP:0032520	Masseter muscular weakness	Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.
HP:0032521	Self hugging	Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.
HP:0032522	Ameliorated by immunosuppresion	Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.
HP:0032523	Tendon thickening	An abnormal increase in the thickness (diameter) of a tendon.
HP:0032524	Long thumb	Length of the thumb is greater than normal.
HP:0032525	Aggravated by acetylcholinesterase inhibitor	Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).
HP:0032526	Ameliorated by acetylcholinesterase inhibitor	Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.
HP:0032527	Inferiorly positioned umbilicus	The position of the umbilicus (belly button) is abnormally low (inferior).
HP:0032528	Elevated urinary 4-hydroxybutyric acid	An increased amount of 4-hydroxybutyric acid in the urine.
HP:0032530	Decreased succinic semialdehyde dehydrogenase level	Reduced level of succinic semialdehyde dehydrogenase (SSADH).
HP:0032531	Elevated CSF gamma-aminobutyric acid concentration	
HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration	Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).
HP:0032533	Elevated circulating acetone concentration	An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.
HP:0032534	Exacerbated by methylxanthine ingestion	Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).
HP:0032535	Cervical (neck)	Applies to an abnormality that is situated in the neck.
HP:0032536	Increased number of lymph nodes	An abnormally elevated number of lymph nodes in an anatomical region.
HP:0032537	Delayed fracture healing	A delay in healing of a fracture past the expected duration.
HP:0032538	Pretibial dimple	A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.
HP:0032539	Joint extensor surface localization	Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.
HP:0032540	Joint flexor surface localization	Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).
HP:0032541	Knuckle pad	Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.
HP:0032542	Exacerbated by pregnancy	Applied to a sign or symptom that is worsened by being pregnant.
HP:0032543	Lithoptysis	Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.
HP:0032544	Predominant small joint localization	Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.
HP:0032545	Abdominal rigidity	Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.
HP:0032546	Abdominal guarding	A voluntary contraction of the abdominal wall musculature to avoid pain.
HP:0032547	Low intraocular pressure	An abnormal decrease of the pressure within the eye.
HP:0032548	Increased placental thickness	Abnormally elevated placental thickness.
HP:0032549	Persistent asymmetrical tonic neck reflex	Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.
HP:0032550	Howell-Jolly bodies	Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.
HP:0032551	Hemorrhoids	Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.
HP:0032552	Abnormal pulse	An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.
HP:0032553	Weak pulse	A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.
HP:0032554	Absent pulse	The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.
HP:0032555	Bounding pulse	Increased amplitude (strength) of the pulse.
HP:0032556	Circumoral cyanosis	Persistent blue color of the skin that surrounds the mouth.
HP:0032557	History of bone marrow transplant	A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.
HP:0032558	Absent sperm flagella	Sperm cells lacking flagella.
HP:0032559	Short sperm flagella	Sperm cells with abnormally short flagella.
HP:0032560	Coiled sperm flagella	Sperm cells whose flagella are twisted (coiled).
HP:0032561	Microcephalic sperm head	Decreased size of the head of sperm.
HP:0032562	Tapered sperm head	Sperm with cigar-shaped heads that gradually dimish in diameter (taper).
HP:0032563	Dacryocytosis	Presence of teardrop-shaped red blood cells.
HP:0032564	Ileitis	Inflammation of the ileum.
HP:0032565	Vaginal mucosal ulceration	
HP:0032566	Oval macrocytosis	Enlarged, oval-shaped erythrocytes (red blood cells).
HP:0032567	Lipiduria	An increased lipid content in the urine.
HP:0032568	Urinary mulberry cells	Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.
HP:0032569	Temporal bossing	Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.
HP:0032570	Pontine ischemic lacunes	Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.
HP:0032571	Increased oocyte death	An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.
HP:0032572	Abnormal urinary nucleobase concentration	A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).
HP:0032573	Elevated urinary cytidine	Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.
HP:0032574	Elevated urinary uridine level	Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.
HP:0032575	Decreased circulating 12-HETE	A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.
HP:0032576	Intracellular accumulation of Dol-PP-GlcNAc2Man5	Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.
HP:0032577	Clonal T cell receptor rearrangement	Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.
HP:0032578	Third ventricle colloid cyst	An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.
HP:0032579	Vascular hamartoma	A benign focal growth composed of vascular tissue.
HP:0032580	Abnormal bulbus cordis morphology	Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.
HP:0032581	Abnormal renal insterstitial morphology	Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.
HP:0032582	Renal interstitial foam cells	Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.
HP:0032583	Renal glomerular foam cells	
HP:0032584	Renal interstitial neutrophil infiltration	Increased numbers of neutrophils in the interstitial tissues of the kidney.
HP:0032585	Renal interstitial eosinophil infiltration	Increased numbers of eosinophils in the interstitial tissues of the kidney.
HP:0032586	Renal interstitial plasma cell infiltration	Increased numbers of plasma cells in the interstitial tissues of the kidney.
HP:0032587	Renal interstitial calcium oxalate	The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.
HP:0032588	Hand apraxia	Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.
HP:0032589	Renal lymphocytic tubulitis	Infiltration of the renal tubular epithelium by lymphocytes.
HP:0032590	Renal neutrophilic tubulitis	Infiltration of the renal tubular epithelium by neutrophils.
HP:0032591	Renal interstitial hemosiderin	Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.
HP:0032592	Aplasia of the right hemidiaphragm	Congenital absence of the right-sided diaphragm.
HP:0032593	Myoglobin casts	A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.
HP:0032594	Renal tubular basement membrane denudation	Naked basement membranes without tubular epithelium.
HP:0032595	Renal tubular epithelial cell detachment	Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.
HP:0032596	Renal tubular epithelial cell cytoplasmic vacuolization	Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.
HP:0032597	Renal tubular epithelial cell sloughing	At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.
HP:0032598	Blebbing of apical cytoplasm of renal tubular epithelial cells	Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.
HP:0032599	Abnormal renal tubular epithelial morphology	Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.
HP:0032600	Renal tubular epithelial cell hyaline droplets	Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.
HP:0032601	Multinucleation of renal tubular epithelial cells	Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.
HP:0032602	Prominent nucleoli of renal tubular epithelial cells	Tubular epithelium with nucleoli clearly visible at 100-fold magnification.
HP:0032603	Renal tubular epithelial cell simplification	Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.
HP:0032604	Renal tubular epithelial cell mitosis	Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.
HP:0032605	High renal tubular epithelial cell N/C ratio	At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.
HP:0032606	Renal tubular epithelial lipofuscin	Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.
HP:0032607	Renal tubular epithelial cell swelling	Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.
HP:0032608	Thyroidization-type tubular atrophy	A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.
HP:0032609	Endocrine-type tubular atrophy	A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.
HP:0032610	Tubulointerstitial mycobacterial infiltration	Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.
HP:0032611	Renal tubular epithelial cell hemosiderin	Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.
HP:0032612	Triphalangeal hallux	A hallux (big toe) with three phalanges in a single, proximo-distal axis.
HP:0032613	Renal interstitial amyloid deposits	Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.
HP:0032614	Renal glomerular amyloid deposition	Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.
HP:0032615	Abnormal diffusion weighted cerebral MRI morphology	A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.
HP:0032616	Renal interstitial immunoglobulin deposits	Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).
HP:0032617	Renal interstitial hemorrhage	A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.
HP:0032618	Renal necrosis	Cell death (necrosis) affecting one or more parts of the kidney.
HP:0032619	Perinephric abscess	A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).
HP:0032620	Intrarenal abscess	An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.
HP:0032621	Hyperchromasia of renal tubular epithelial cells	At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.
HP:0032622	Tubular luminal dilatation	Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.
HP:0032623	Renal intratubular casts	Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.
HP:0032624	Intratubular bilirubin casts	A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).
HP:0032625	Intratubular erythrocyte cast	Casts that contain red blood cells and are located within the tubuli of the kidney.
HP:0032626	Intratubular vancomycin casts	Intratubular casts composed of vancomycin aggregates and uromodulin.
HP:0032627	Intratubular leukocyte casts	Casts that contain white blood cells and are located within the tubuli of the kidney.
HP:0032628	Renal intratubular crystals	
HP:0032629	Intratubular dihydroxyadenuria crystals	Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.
HP:0032630	Intratubular light-chain casts	The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.
HP:0032631	Intratubular hemoglobin casts	A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.
HP:0032632	Renal papillary necrosis	Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.
HP:0032633	Intratubular hyaline casts	A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.
HP:0032634	Intratubular myoglobin cast	Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.
HP:0032635	Tubulointerstitial microganismal infiltration	Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.
HP:0032636	Tubulointerstitial viral infiltration	Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.
HP:0032637	Renal interstitial edema	Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.
HP:0032638	Elevated urine mevalonic acid level	An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.
HP:0032639	Elevated leukocyte cystine	An increased concentration of cystine within white blood cells.
HP:0032640	Elevated circulating CCL18 level	An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.
HP:0032641	Renal interstitial granulomas	Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.
HP:0032642	Renal interstitial necrotizing granulomas	An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.
HP:0032643	Renal interstitial non-necrotizing granulomas	Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.
HP:0032644	Renal interstitial deposits	Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.
HP:0032645	Renal interstitial mononuclear cell infiltration	Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).
HP:0032646	Renal interstitial xanthogranulomatous inflammation	Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.
HP:0032647	Renal tubular epithelial cell apoptosis	Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.
HP:0032648	Tubularization of Bowman capsule	The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.
HP:0032649	Skewfoot	A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus.
HP:0032650	Elevated CSF glial fibrillary acidic protein concentration	Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.
HP:0032651	Elevated CSF chitinase-3-like protein 1 concentration	Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.
HP:0032652	Elevated CSF chitotriosidase 1 concentration	Increased concentration of chitotriosidase 1 in cerebrospinal fluid.
HP:0032653	Elevated lactate:pyruvate ratio	An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.
HP:0032654	Impaired flow-mediated arterial dilatation	Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.
HP:0032655	Decreased adipose tissue tocopherol level	A reduced concentration of tocopherol in fat tissue.
HP:0032656	Febrile status epilepticus	A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.
HP:0032657	Elevated circulating lyso-globotriaosylsphingosine concentration	An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.
HP:0032658	Status epilepticus with prominent motor symptoms	Status epilepticus with prominent motor signs during the prolonged seizure.
HP:0032659	Non-convulsive status epilepticus with coma	A type of status epilepticus without prominent motor symptoms and in the presence of coma.
HP:0032660	Convulsive status epilepticus	A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.
HP:0032661	Generalized convulsive status epilepticus	A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.
HP:0032662	Focal-onset seizure evolving into bilateral convulsive status epilepticus	A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.
HP:0032663	Focal motor status epilepticus	Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
HP:0032664	Adversive status epilepticus	A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.
HP:0032665	Repeated focal motor seizures	A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.
HP:0032666	Hyperkinetic status epilepticus	Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.
HP:0032667	Myoclonic status epilepticus	A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.
HP:0032668	Myoclonic status epilepticus without coma	A type of myoclonic status epilepticus in the absence of coma.
HP:0032669	Myoclonic status epilepticus with coma	A type of myoclonic status epilepticus in the presence of coma.
HP:0032670	Tonic status epilepticus	Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.
HP:0032671	Non-convulsive status epilepticus without coma	A type of status epilepticus without prominent motor symptoms in the absence of coma.
HP:0032672	Autonomic status epilepticus	Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.
HP:0032673	Focal non-convulsive status epilepticus without coma	Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.
HP:0032674	Cutaneous wound	A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occured owing to an injury of the skin. Wound healing is a dynamic, interactive processinvolving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.
HP:0032675	Acute cutaneous wound	A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.
HP:0032676	Chronic cutaneous wound	A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.
HP:0032677	Generalized-onset motor seizure	A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
HP:0032678	Eyelid myoclonia seizure	An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.
HP:0032679	Focal non-motor seizure	A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation.
HP:0032680	Focal cognitive seizure	A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.
HP:0032681	Focal aware cognitive seizure	A focal aware cognitive seizure during which awareness is retained throughout the seizure.
HP:0032682	Focal aware non-motor seizure	A focal non-motor seizure in which awareness is retained throughout the seizure.
HP:0032684	Focal aware cognitive seizure with auditory agnosia	A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.
HP:0032685	Focal cognitive seizure with auditory agnosia	A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.
HP:0032686	Focal aware cognitive seizure with memory impairment	A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.
HP:0032687	Focal cognitive seizure with memory impairment	A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).
HP:0032688	Focal aware cognitive seizure with dissociation	A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.
HP:0032689	Focal cognitive seizure with dissociation	A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.
HP:0032690	Focal aware cognitive seizure with dyscalculia/acalculia	A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.
HP:0032691	Focal cognitive seizure with dyscalculia/acalculia	A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.
HP:0032692	Focal cognitive seizure with forced thinking	A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.
HP:0032693	Focal cognitive seizure with neglect	A focal cognitive seizure characterized by neglect as the initial semiological manifestation.
HP:0032694	Focal cognitive seizure with dyslexia/alexia	A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.
HP:0032696	Focal cognitive seizure with receptive dysphasia/aphasia	A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.
HP:0032698	Focal cognitive seizure with conduction dysphasia/aphasia	A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.
HP:0032699	Focal cognitive seizure with dysgraphia/agraphia	A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.
HP:0032700	Focal cognitive seizure with left-right confusion	A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.
HP:0032701	Focal cognitive seizure with anomia	A focal cognitive seizure characterized by anomia as the initial semiological manifestation.
HP:0032702	Focal cognitive seizure with expressive dysphasia/aphasia	A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.
HP:0032704	Focal aware cognitive seizure with illusion	A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.
HP:0032705	Focal aware cognitive seizure with forced thinking	A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.
HP:0032706	Focal aware cognitive seizure with left-right confusion	A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.
HP:0032707	Focal aware cognitive seizure with dyslexia/alexia	A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.
HP:0032708	Focal aware cognitive seizure with anomia	A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.
HP:0032709	Focal aware cognitive seizure with dysgraphia/agraphia	A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.
HP:0032710	Focal aware cognitive seizure with receptive dysphasia/aphasia	A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.
HP:0032711	Focal aware clonic seizure	A type of focal clonic seizure during which awareness is fully retained throughout.
HP:0032712	Focal impaired awareness motor seizure	A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032713	Focal impaired awareness motor seizure with version	A focal motor seizure with version characterized by impaired awareness at some point during the seizure.
HP:0032714	Focal impaired awareness bilateral motor seizure	A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.
HP:0032715	Focal bilateral motor seizure	A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.
HP:0032716	Focal impaired awareness non-motor seizure	A focal non-motor seizure characterized by impaired awareness at some point during the seizure.
HP:0032717	Focal impaired awareness motor seizure with dystonia	A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.
HP:0032718	Focal motor seizure with dystonia	A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.
HP:0032719	Focal impaired awareness motor seizure with dysarthria/anarthria	A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.
HP:0032720	Focal motor seizure with dysarthria/anarthria	A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.
HP:0032721	Focal motor seizure with paresis/paralysis	A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.
HP:0032722	Focal aware tonic seizure	A type of focal tonic seizure during which awareness is fully retained throughout.
HP:0032723	Focal aware motor seizure with dystonia	A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.
HP:0032724	Focal impaired awareness tonic seizure	A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032725	Focal impaired awareness clonic seizure	A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.
HP:0032726	Focal impaired awareness hyperkinetic seizure	A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032727	Focal emotional seizure with agitation	Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.
HP:0032728	Focal impaired awareness atonic seizure	A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032729	Focal emotional seizure with pleasure	Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.
HP:0032730	Focal impaired awareness myoclonic seizure	A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032731	Focal aware hyperkinetic seizure	A type of focal hypermotor seizure during which awareness is fully retained throughout.
HP:0032732	Focal aware motor seizure with paresis/paralysis	A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.
HP:0032733	Focal aware motor seizure with dysarthria/anarthria	A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.
HP:0032734	Focal aware emotional seizure	A focal emotional seizure during which awareness is retained throughout the seizure.
HP:0032735	Focal aware emotional seizure with anger	Focal emotional seizure with anger in which awareness is retained throughout.
HP:0032736	Focal emotional seizure with anger	Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.
HP:0032737	Focal emotional seizure with paranoia	Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.
HP:0032738	Focal aware emotional seizure with fear/anxiety/panic	Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.
HP:0032739	Focal emotional seizure with fear/anxiety/panic	Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.
HP:0032740	Focal aware autonomic seizure	A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.
HP:0032741	Focal aware emotional seizure with paranoia	Focal emotional seizure with paranoia in which awareness is retained throughout.
HP:0032742	Focal aware emotional seizure with pleasure	Focal emotional seizure with pleasure in which awareness is retained throughout.
HP:0032743	Focal aware emotional seizure with crying	Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.
HP:0032744	Focal aware emotional seizure with agitation	Focal emotional seizure with agitation in which awareness is retained throughout.
HP:0032745	Focal aware emotional seizure with laughing	Focal emotional seizure with laughing in which awareness is retained throughout.
HP:0032746	Focal impaired awareness emotional seizure	A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032747	Focal impaired awareness emotional seizure with pleasure	Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032748	Focal impaired awareness emotional seizure with anger	Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.
HP:0032749	Focal impaired awareness emotional seizure with paranoia	Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.
HP:0032750	Focal impaired awareness emotional seizure with laughing	Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.
HP:0032751	Focal impaired awareness emotional seizure with crying	Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.
HP:0032752	Focal impaired awareness emotional seizure with fear/anxiety/panic	Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.
HP:0032753	Focal impaired awareness emotional seizure with agitation	A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.
HP:0032754	Focal aware sensory seizure	A focal sensory seizure during which awareness is retained throughout the seizure.
HP:0032755	Focal impaired awareness autonomic seizure	A focal autonomic seizure characterised by impaired awareness at some point within the seizure.
HP:0032756	Focal impaired awareness cognitive seizure	A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032757	Focal aware hemiclonic seizure	A focal hemiclonic seizure in which awareness is retained throughout.
HP:0032758	Focal aware myoclonic seizure	A type of focal myoclonic seizure during which awareness is fully retained throughout.
HP:0032759	Focal sensory seizure with vestibular features	A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.
HP:0032760	Focal sensory seizure with hot-cold sensations	A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.
HP:0032761	Focal aware autonomic seizure with pallor/flushing	A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.
HP:0032762	Focal autonomic seizure with pallor/flushing	A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.
HP:0032763	Focal autonomic seizure with pupillary dilation/constriction	A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.
HP:0032764	Focal autonomic seizure with erection	A type of focal autonomic seizure characterised by penile erection as the intial semiological feature.
HP:0032765	Focal autonomic seizure with urge to urinate/defecate	A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.
HP:0032766	Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration	A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.
HP:0032767	Focal autonomic seizure with piloerection	A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.
HP:0032768	Focal aware autonomic seizure with pupillary dilation/constriction	A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.
HP:0032769	Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration	An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.
HP:0032770	Focal aware autonomic seizure with erection	A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.
HP:0032771	Focal autonomic seizure with lacrimation	A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.
HP:0032772	Focal impaired awareness autonomic seizure with piloerection	A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.
HP:0032773	Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.
HP:0032774	Focal impaired awareness autonomic seizure with urge to urinate/defecate	A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.
HP:0032775	Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration	An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.
HP:0032776	Focal aware autonomic seizure with lacrimation	
HP:0032777	Focal impaired awareness autonomic seizure with pallor/flushing	A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.
HP:0032778	Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.
HP:0032779	Focal impaired awareness autonomic seizure with pupillary dilation/constriction	A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.
HP:0032780	Focal impaired awareness autonomic seizure with erection	A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.
HP:0032781	Focal aware autonomic seizure with urge to urinate/defecate	A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.
HP:0032782	Focal impaired awareness autonomic seizure with lacrimation	A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.
HP:0032783	Focal aware autonomic seizure with piloerection	A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.
HP:0032784	Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole	An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.
HP:0032785	Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena	A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.
HP:0032786	Migrating focal seizure	A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.
HP:0032787	Focal impaired awareness sensory seizure	A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032788	Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole	A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.
HP:0032789	Focal aware behavior arrest seizure	A focal behavior arrest seizure characterised by retained awareness throughout the seizure.
HP:0032790	Focal impaired awareness behavior arrest seizure	A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.
HP:0032791	Focal impaired awareness cognitive seizure with anomia	A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.
HP:0032792	Tonic seizure	A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.
HP:0032793	Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia	A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.
HP:0032794	Myoclonic seizure	A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
HP:0032795	Generalized myoclonic-tonic-clonic seizure	A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.
HP:0032796	Focal impaired awareness cognitive seizure with left-right confusion	A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.
HP:0032797	Focal aware sensory seizure with olfactory features	Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.
HP:0032798	Focal impaired awareness cognitive seizure with neglect	A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.
HP:0032799	Focal impaired awareness hemiclonic seizure	A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.
HP:0032800	Focal aware sensory seizure with vestibular features	A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.
HP:0032801	Focal impaired awareness cognitive seizure with memory impairment	A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.
HP:0032802	Focal impaired awareness cognitive seizure with dyscalculia/acalculia	A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.
HP:0032803	Focal impaired awareness cognitive seizure with dysgraphia/agraphia	A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.
HP:0032804	Focal impaired awareness sensory seizure with olfactory features	A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.
HP:0032805	Focal impaired awareness sensory seizure with vestibular features	A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.
HP:0032806	Focal impaired awareness sensory seizure with visual features	A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.
HP:0032807	Neonatal seizure	A seizure occurring within the neonatal period (28 days beyond the full term date).
HP:0032808	Neonatal seizure with electrographic correlate	Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.
HP:0032809	Neonatal electro-clinical seizure	Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.
HP:0032810	Focal sensory seizure with cephalic sensation	A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.
HP:0032811	Neonatal electrographic only seizure	Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.
HP:0032812	Neonatal electro-clinical non-motor seizure	
HP:0032813	Neonatal electro-clinical motor seizure	Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.
HP:0032814	Neonatal electro-clinical clonic seizure	Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.
HP:0032815	Neonatal electro-clinical myoclonic seizure	Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).
HP:0032816	Neonatal multifocal myoclonic seizure	Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites.
HP:0032817	Neonatal focal myoclonic seizure	Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.
HP:0032818	Neonatal focal clonic seizure	Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.
HP:0032819	Neonatal bilateral clonic seizure	Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.
HP:0032820	Neonatal multifocal clonic seizure	Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.
HP:0032821	Neonatal electro-clinical tonic seizure	Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.
HP:0032822	Neonatal electro-clinical autonomic seizure	Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.
HP:0032823	Neonatal electro-clinical seizure with behavior arrest	Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.
HP:0032824	Neonatal focal tonic seizure	Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.
HP:0032825	Neonatal electro-clinical sequential seizure	Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.
HP:0032826	Focal neonatal sequential seizure	Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.
HP:0032827	Multifocal neonatal sequential seizure	Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.
HP:0032828	Neonatal bilateral symmetric tonic seizure	Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.
HP:0032829	Neonatal electro-clinical motor seizure with automatism	Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, and in association with other features.
HP:0032830	Neonatal seizure with bilateral asymmetric automatism	Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.
HP:0032831	Neonatal bilateral asymmetric tonic seizure	Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.
HP:0032832	Neonatal bilateral asymmetric myoclonic seizure	Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body asymmetrically.
HP:0032833	Neonatal epileptic spasm	A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.
HP:0032834	Neonatal seizure with unilateral automatism	Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.
HP:0032835	Neonatal seizure with bilateral symmetric automatism	Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at both sides of the body symmetrically.
HP:0032836	Neonatal bilateral symmetric myoclonic seizure	Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at both sides of the body symmetrically.
HP:0032837	Bilateral asymmetric neonatal sequential seizure	Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.
HP:0032838	Neonatal unilateral epileptic spasm	Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.
HP:0032839	Bilateral symmetric neonatal sequential seizure	Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.
HP:0032840	Neonatal bilateral symmetric epileptic spasm	Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.
HP:0032841	Neonatal bilateral asymmetric epileptic spasm	Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.
HP:0032842	Generalized-onset epileptic spasm	A type of epileptic spasm of generalized onset.
HP:0032843	Focal-onset epileptic spasm	A type of epileptic spasm of focal onset.
HP:0032844	Focal impaired awareness epileptic spasm	A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.
HP:0032845	Focal aware epileptic spasm	A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.
HP:0032846	Focal motor seizure with negative myoclonus	A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.
HP:0032847	Focal impaired awareness hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.
HP:0032848	Focal aware cognitive seizure with neglect	A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.
HP:0032849	Aphasic status epilepticus	Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.
HP:0032850	Focal aware cognitive seizure with expressive dysphasia/aphasia	A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.
HP:0032851	Focal aware sensory seizure with visual features	A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis.
HP:0032852	Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia	A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.
HP:0032853	Focal impaired awareness sensory seizure with hot-cold sensations	A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.
HP:0032854	Focal aware hemifacial clonic seizure	Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.
HP:0032855	Photosensitive myoclonic-tonic-clonic seizure	Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.
HP:0032856	Focal aware bilateral motor seizure	A type of focal bilateral motor seizure during which awareness is fully retained throughout.
HP:0032857	Focal aware motor seizure with negative myoclonus	A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.
HP:0032858	Focal impaired awareness motor seizure with negative myoclonus	A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.
HP:0032859	Focal impaired awareness motor seizure with paresis/paralysis	A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.
HP:0032860	Generalized non-convulsive status epilepticus without coma	Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.
HP:0032861	Focal non-convulsive status epilepticus with impairment of consciousness	Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.
HP:0032862	Status epilepticus with ictal paresis	A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.
HP:0032863	Typical absence status epilepticus	Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.
HP:0032864	Focal aware sensory seizure with auditory features	A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.
HP:0032865	Myoclonic absence status epilepticus	Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.
HP:0032866	Oculoclonic status epilepticus	A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.
HP:0032867	Refractory status epilepticus	Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.
HP:0032868	Super-refractory status epilepticus	Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.
HP:0032869	Focal non-convulsive status epilepticus without impairment of consciousness	Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.
HP:0032870	Focal impaired awareness cognitive seizure with dyslexia/alexia	A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.
HP:0032871	Focal aware cognitive seizure with hallucination	A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.
HP:0032872	Focal impaired awareness cognitive seizure with illusion	A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.
HP:0032873	Focal aware sensory seizure with cephalic sensation	A seizure characterized by a sensation in the head such as light-headedness or headache.
HP:0032874	Focal impaired awareness cognitive seizure with auditory agnosia	A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.
HP:0032876	Focal aware cognitive seizure with conduction dysphasia/aphasia	A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.
HP:0032877	Focal aware sensory seizure with hot-cold sensations	A seizure characterized by sensations of feeling hot and then cold.
HP:0032878	Focal impaired awareness sensory seizure with cephalic sensation	A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.
HP:0032879	Focal impaired awareness seizure with dissociation at onset	A focal cognitive seizure with dissociation at the onset of the seizure impairment of awareness at at some point during the seizure.
HP:0032880	Focal impaired awareness sensory seizure with auditory features	A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.
HP:0032882	Focal impaired awareness cognitive seizure with deja vu/jamais vu	A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.
HP:0032883	Focal aware cognitive seizure with deja vu/jamais vu	A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.
HP:0032884	Focal aware sensory seizure with somatosensory features	A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.
HP:0032885	Focal impaired awareness cognitive seizure with hallucination	A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.
HP:0032886	Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia	A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.
HP:0032887	Generalized atonic seizure	Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.
HP:0032888	Focal impaired awareness cognitive seizure with forced thinking	A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.
HP:0032889	Focal aware sensory seizure with gustatory features	A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.
HP:0032890	Focal impaired awareness sensory seizure with somatosensory features	A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.
HP:0032891	Focal aware motor seizure with version	A focal motor seizure with version characterized by retained awareness throughout the seizure.
HP:0032892	Infection-related seizure	Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.
HP:0032893	Gastroenteritis-related afebrile seizure	Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.
HP:0032894	Seizure precipitated by febrile infection	Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.
HP:0032895	Febrile seizure outside the age of 3 months to 6 years	Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.
HP:0032896	Music-induced seizure	Seizure precipitated by listening to music or other complex sounds.
HP:0032897	Focal impaired awareness sensory seizure with gustatory features	A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.
HP:0032898	Focal automatism seizure	A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.
HP:0032899	Focal orofacial automatism seizure	A type of focal automatism seizure characterized by orofacial automatisms at onset.
HP:0032900	Focal manual automatism seizure	A type of focal automatism seizure characterized by manual automatisms at onset.
HP:0032901	Focal pedal automatism seizure	A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.
HP:0032902	Focal perseverative automatism seizure	A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.
HP:0032903	Focal vocal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.
HP:0032904	Focal verbal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.
HP:0032905	Focal sexual automatism seizure	A type of focal automatism seizure characterized by involuntary sexual behavior at onset.
HP:0032906	Focal head nodding automatism seizure	A type of focal automatism seizure characterized by involuntary head nodding at onset.
HP:0032907	Focal undressing automatism seizure	A type of focal automatism seizure characterized by involuntary undressing at onset.
HP:0032908	Focal aware undressing automatism seizure	A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.
HP:0032909	Focal impaired awareness automatism seizure	A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.
HP:0032910	Focal aware automatism seizure	A type of focal automatism seizure during which awareness is fully retained throughout.
HP:0032911	Focal aware orofacial automatism seizure	A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.
HP:0032912	Focal aware manual automatism seizure	A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.
HP:0032913	Focal aware pedal automatism seizure	A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.
HP:0032914	Focal aware perseverative automatism seizure	A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.
HP:0032915	Focal aware vocal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.
HP:0032916	Focal aware verbal automatism seizure	A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.
HP:0032917	Focal aware sexual automatism seizure	A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.
HP:0032918	Focal impaired awareness orofacial automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.
HP:0032919	Focal aware head nodding automatism seizure	A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.
HP:0032920	Focal impaired awareness manual automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.
HP:0032921	Focal impaired awareness pedal automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.
HP:0032922	Focal impaired awareness perseverative automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.
HP:0032923	Focal impaired awareness vocal automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.
HP:0032924	Focal impaired awareness verbal automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.
HP:0032925	Focal impaired awareness sexual automatism seizure	A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.
HP:0032926	Focal impaired awareness head nodding automatism seizure	A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.
HP:0032927	Focal impaired awareness undressing automatism seizure	A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.
HP:0032928	Elevated CSF neurofilament light chain concentration	Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.
HP:0032929	Abnormal chondrocyte morphology	Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.
HP:0032930	Lacunar halos around chondrocytes	Concentric rings around the chondrocytes.
HP:0032932	Increased circulating pancreatic triacylglycerol lipase level	An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).
HP:0032933	Airway hyperresponsiveness	An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.
HP:0032934	Spontaneous cerebrospinal fluid leak	A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).
HP:0032935	Posterior crocodile shagreen of the cornea	Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.
HP:0032936	Intrusion symptom	Unintentional reexperiencing a traumatic event comprising symptoms are usually sensory impressions and emotional responses from the trauma that appear to lack a time perspective and a context.
HP:0032937	Recurrent, involuntary and intrusive distressing memories	After suffering psychological trauma, people can repeatedly experience sensory-perceptual impressions of the event, which intrude involuntarily into consciousness. These intrusive memories typically take the form of visual images (e.g., pictures in the mind's eye), but can also include sounds, smells, tastes and bodily sensations, and come with a range of negative emotions associated with the hotspots in the trauma memory.
HP:0032938	Recurrent trauma-related distressing dreams	Recurrent distressing dreams in which the content and/or affect of the dream are related to the traumatic event or events.
HP:0032939	Physiological reactivity to cues	Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).
HP:0032940	Dissociative reaction	A disruption and/or discontinuity in the normal integration of consciousness, memory, identity, emotion, perception, body representation, motor control, and behavior. Clinical presentations of dissociation may include a wide variety of symptoms, including experiences of depersonalization, derealisation, emotional numbing, flashbacks of traumatic events, absorption, amnesia, voice hearing, interruptions in awareness, and identity alteration.
HP:0032941	Intense psychological distress to cues	Intense or prolonged psychological distress at exposure to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.
HP:0032942	Avoidance of stimuli associated with traumatic event	Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).
HP:0032943	Abnormal urine pH	A deviation of urine pH from the normal range of 4.5 to 7.8.
HP:0032944	Alkaline urine	Urine pH of 8 or higher.
HP:0032945	Renal interstitial inflammation	Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.
HP:0032946	Renal cortical interstitial inflammation	Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.
HP:0032947	Renal medullary interstitial inflammation	Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.
HP:0032948	Renal interstitial fibrosis	The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.
HP:0032949	Renal interstitial calcium phosphate deposits	The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.
HP:0032950	Abnormal renal tubular lumen morphology	Abnormal structure or form of the lumen (opening) of kidney tubules.
HP:0032951	Renal tubular viral cytopathic changes	Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.
HP:0032952	Usual-type tubular atrophy	A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.
HP:0032953	Renal tubular cytomegalovirus inclusions	Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.
HP:0032954	Renal tubular adenovirus inclusions	Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbersof neutrophils, with interstitial edema and hemorrhage.
HP:0032955	Renal tubular polyoma virus inclusions	Renal ltubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.
HP:0032956	Renal tubular herpes simplex virus inclusions	Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.
HP:0032957	Dysmorphic hematuria	The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.
HP:0032958	Urinary oval fat bodies	The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.
HP:0032959	Intratubular calcium oxalate casts	Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.
HP:0032960	Intratubular calcium phosphate casts	Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.
HP:0032961	Magnesium ammonium phosphate crystalluria	Magnesium ammonium phosphate crystals in the urine.
HP:0032962	Tubular microcystic change	Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.
HP:0032963	Complex renal cyst	A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.
HP:0032964	Uric acid crystalluria	The presence of uric acid crystals in the urine.
HP:0032965	Interstitial emphysema	Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.
HP:0032966	Centrilobular emphysema	A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.
HP:0032967	Panacinar emphysema	Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.
HP:0032968	Expiratory air trapping	Abnormal retention of gas within a lung or part of a lung, as a result of airway obstuction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.
HP:0032969	Traction bronchiectasis	Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.
HP:0032970	Traction bronchiolectasis	
HP:0032971	Computed tomographic halo sign	CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.
HP:0032972	Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT	A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.
HP:0032973	Abnormal bronchoalveolar lavage fluid morphology	Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.
HP:0032974	Abnormal cellular composition of bronchoalveolar fluid	Deviation from the commonly in healthy people observe cellular distribution. Normal ranghes are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.
HP:0032975	Abnormal bronchoalveolar fluid protein level	Any deviation from the normal concentration of protein in the bronchoalveolar fluid.
HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.
HP:0032977	Elevated bronchoalveolar lavage fluid neutrophil proportion	Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.
HP:0032978	Lipid-laden macrophages in bronchoalveolar fluid	Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.
HP:0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid	Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).
HP:0032980	Absent bronchoalveolar surfactant-protein C	Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.
HP:0032981	Absent bronchoalveolar dimeric surfactant-protein B	Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.
HP:0032983	Atoll sign	CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thicknes. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.
HP:0032984	Abnormal alveolar macrophage morphology	Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.
HP:0032985	Dust particle inclusion in alveolar macrophages	Accumulation of inhaled, nondigestable particles in macrophages.
HP:0032986	Smoker-inclusions in alveolar macrophages	In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.
HP:0032987	Elevated bronchoalveolar lavage fluid eosinophil proportion	Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.
HP:0032988	Persistent head lag	The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.
HP:0032989	Delayed ability to roll over	Delayed ahcievement of the ability to roll front to back and back to front.
HP:0032990	Localized pulmonary hemorrhage	Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.
HP:0032991	Abnormal pulmonary fissure morphology	An abnormal form or number of the pulmonary fissures.
HP:0032992	Abnormal pulmonary fissure architecture	An abnormal form or location of a pulmonary fissure.
HP:0032993	Abnormal pulmonary fissure count	A deviation from the normal number of pulmonary fissures.
HP:0032994	Supernumerary pulmonary fissure	Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.
HP:0032995	Decreased pulmonary fissure count	Lack of one or more of the normal pulmonary fissures.
HP:0032996	Abnormal cystatin C level	Any deviation from the normal concentration of cystatin C in serum or plasma.
HP:0032997	Decreased cystatin C level	A decreased concentration of cystatin C in the blood circulation.
HP:0032998	Increased cystatin C level	A elevated concentration of cystatin C in the blood circulation.
HP:0032999	Increased fecal porphyrin	Abnormally high concentration of fecal porphyrins in feces.
HP:0033000	Subglottic laryngitis	Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.
HP:0033001	Laryngeal papilloma	A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.
HP:0033002	Bronchial papilloma	A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.
HP:0033003	Tracheal papilloma	A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.
HP:0033004	Palmar warts	Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).
HP:0033005	Plantar warts	Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).
HP:0033006	Diffuse alveolar damage	Diffuse alveolar damage (DAD) describes a comon histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis and crack cocaine inhalation.
HP:0033007	Architectural distortion of the lung	Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.
HP:0033008	Increased Z-disc width	Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).
HP:0033009	Increased fecal coproporphyrin 1	Abnormally high concentration of coproporphyrin 1 in feces.
HP:0033010	Increased fecal coproporphyrin 3	Abnormally high concentration of coproporphyrin 3 in feces
HP:0033011	Platystencephaly	Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.
HP:0033012	Abnormal salivary metabolite concentration	Any deviation from the normal concentration of a metabolite in saliva.
HP:0033013	Abnormal salivary cortisol level	Any deviation from the normal concentration of cortisol in saliva.
HP:0033014	Decreased salivary cortisol level	Abnormally reduced concentration of cortisol in saliva.
HP:0033015	Increased salivary cortisol level	Abnormally elevated concentration of cortisol in saliva.
HP:0033016	Chronic decreased circulating IgD	A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.
HP:0033017	Transient decreased circulating IgD	A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.
HP:0033018	Chronic absent circulating IgD	A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.
HP:0033019	Male reproductive system neoplasm	A neoplasm that affects the male reproductive system.
HP:0033020	Female reproductive system neoplasm	A neoplasm that affects the female reproductive system.
HP:0033021	Transient decreased circulating IgE	A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.
HP:0033022	Chronic decreased circulating IgE	A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.
HP:0033023	Chronic absent circulating IgE	A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.
HP:0033024	Transient decreased circulating IgA	A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.
HP:0033025	Chronic absent circulating total IgG	A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.
HP:0033026	White oral mucosal macule	A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.
HP:0033027	Retinal peau d'orange	A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.
HP:0033028	Anti-U1 ribonucleoprotein antibody positivity	The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.
HP:0033030	Anti-glomerular basement membrane-antibody positivity	The presence of autoantibodies in the serum that react to the glomerular basement membrane.
HP:0033031	Hyperpyrexia	An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).
HP:0033032	Triggered by an abusive adult	Applies to a sign or symptom that is induced by an abusive adult (usually a parent).
HP:0033033	Anti-MDA5 antibody positivity	The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).
HP:0033034	Anti-citrullinated protein antibody positivity	The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.
HP:0033035	Abnormal Schwann cell morphology	Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.
HP:0033036	Decreased nasal nitric oxide	Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.
HP:0033037	Migratory arthritis	
HP:0033038	Anti-RNA-polymerase-III-autoantibody positivity	The presence of autoantibodies in the serum that react to RNA-polymerase III.
HP:0033039	Increased circulating precipitin level	The presence of high titers of antigen-precipitating IgG in the serum.
HP:0033040	Anti-Sm antibody positivity	The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.
HP:0033041	Cytokine storm	Excessive or uncontrolled release of proinflammatory cytokines.
HP:0033042	Abnormal chorion morphology	Any structural anomaly of the fetal part of the placenta, which is known as the chorion.
HP:0033043	Edematous chorionic villi	Swelling of the chorionic villi owing to fluid accumulation.
HP:0033044	Motor regression	Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.
HP:0033045	Bipedal edema	A palpable swelling in both feet and ankles caused by palpable swelling caused by an increase in interstitial fluid volume (excess fulid).
HP:0033046	Michaelis-Gutmann bodies	Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.
HP:0033047	Body ache	Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.
HP:0033048	Substantia nigra hypointensity on susceptibility-weighted imaging	Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).
HP:0033050	Pharyngalgia	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.
HP:0033051	Impaired executive functioning	A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.
HP:0033052	Psychogenic non-epileptic seizure	Psychogenic non-epileptic seizures (PNES) are an important cause of apparently treatment-resistant epilepsy and remain a major diagnostic challenge in epileptology. The two main PNES groups are panic disorder (also occurring as a reaction in people with epilepsy) and dissociative disorder (pseudoseizure), often developing inpatients with no history of epilepsy. The main markers distinguishing PNES from epileptic seizures are (i) the way the patient tells the story (not focusing on the seizure symptoms, avoidance of the word seizure, etc); (ii) that they are prolonged (many minutes); (iii) associated with hyperventilation and eyes closed; and that they present as treatment-resistant epilepsy despite an often normal intellect and brain imaging.
HP:0033053	Pseudoseizure	Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.
HP:0033054	Myoclonic tremor	A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.
HP:0033055	Impaired ability to plan	Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.
HP:0033056	Impaired ability to organize	Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.
HP:0033057	Decreased circulating terminal complement component concentration	Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.
HP:0033058	Decreased circulating complement C7 concentration	Concentration of the complement component C7 in the blood circulation below the lower limit of normal.
HP:0033059	Decreased circulating complement C6 concentration	Concentration of the complement component C6 in the blood circulation below the lower limit of normal.
HP:0033060	Decreased circulating complement C5 concentration	Concentration of the complement component C5 in the blood circulation below the lower limit of normal.
HP:0033061	Increased factor IX activity	Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
HP:0033062	Abnormal factor IX activity	Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
HP:0033063	Shortened sleep cycle	A tendency to sleep less hours than usual while feeling well rested.
HP:0033064	Renal interstitial globotriaosylceramide inclusions	Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).
HP:0033065	Mild albuminuria	The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).
HP:0033066	Severe albuminuria	The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).
HP:0033067	Cystine crystalluria	
HP:0033068	Medication crystalluria	A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber colour. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.
HP:0033069	Renal interstitial IgG4+ plasma cell infiltration	An increased number of IgG4+ plasma cells in the interstitial space of the kidney.
HP:0033070	Impaired self monitoring	Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.
HP:0033071	Impaired task monitoring	Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.
HP:0033072	Abnormal macroscopic urine appearance	Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.
HP:0033073	Urate tophus	Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.
HP:0033074	Steroid-responsive anemia	Amelioration of anemia upon treatment with a steroid medication.
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.
HP:0033076	Abnormal circulating free T4 concentration	A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.
HP:0033077	Increased circulating free T4 concentration	An elevated concentration of free thyroxine (fT4) in the blood circulation.
HP:0033078	Decreased circulating free T4 concentration	A reduced concentration of free thyroxine (fT4) in the blood circulation.
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	Absence or underdevelopment of the thyroid gland.
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesised by, stored within and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal reponse in the TRH stimulation test.
HP:0033081	Absent TSH response to thyrotrophin-releasing hormone stimulation test	Failure to increase serum TSH levels in response to a TRH stimulation test.
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.
HP:0033083	Increased circulating farnesol concentration	An elevated level of farnesol in the blood circulation.
HP:0033084	Abnormal antral follicle count	Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.
HP:0033085	Reduced antral follicle count	A count of antral follicles that is lower than normal for age.
HP:0033086	Increased antral follicle count	A count of antral follicles that is higher than normal for age.
HP:0033087	Quotidian fever	Fever that occurs at daily intervals.
HP:0033088	Valinuria	Urine valine level above the normal range.
HP:0033089	Branched-chain aminoaciduria	An increased level of a branched chain family amino acid in the urine.
HP:0033090	Increased aromatic amino acid level in urine	An elevated level of an aromatic amino acid in the urine.
HP:0033091	Tyrosinuria	An abnormally increased level of tyrosine in the urine.
HP:0033092	Increased urine succinate level	An increase in the level of succinate in the urine.
HP:0033093	Increased glutamine family amino acid level in urine	An elevated level of an glutamine family amino acid in the urine.
HP:0033094	Increased urine glutamate level	An increased concentration of glutamate in the urine.
HP:0033095	Increased sulfur amino acid level in urine	An elevated level of a sulfur-containing amino acid in the urine.
HP:0033096	Increased aspartate family amino acid level in urine	An elevated level of an aspartate family amino acid in the urine.
HP:0033097	Increased urine proteinogenic amino acid derivative level	An elevated urine level of a compound that is derived from an amino acid.
HP:0033098	Increased urinary non-proteinogenic amino acid level	An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.
HP:0033099	Increased serine family amino acid in urine	An increased level of a serine family amino acid in the urine.
HP:0033100	Increased proteinogenic amino acid level in urine	An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.
HP:0033101	Elevated urine aconitic acid level	An abnormally increased level of aconitic acid in the urine.
HP:0033102	Monkey wrench femoral neck	The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.
HP:0033103	Elevated circulating CHI3L1 level	Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.
HP:0033104	Inappropriate absence of fever	Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.
HP:0033105	Interhypothalamic Adhesion	An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.
HP:0033106	Elevated circulating D-dimer concentration	An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.
HP:0033108	Abnormal circulating proteinogenic amino acid derivative concentration	Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.
HP:0033109	Abnormal circulating non-proteinogenic amino acid concentration	Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.
HP:0033110	Elevated circulating alpha-aminobutyric acid concentration	An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.
HP:0033111	3-hydroxyisovaleric aciduria	Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.
HP:0033112	Elevated circulating apolipoprotein C-III concentration	An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.
HP:0033113	Gallop rhythm	In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.
HP:0033114	Quadruple gallop rhythm	A type of gallop rhytm in which both the third and the fourth sounds are present.
HP:0033115	Elevated circulating tenascin-C level	Abnormally increased concentration of tenascin-C in the blood circulation.
HP:0033116	Duodenal gastric metaplasia	Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.
HP:0033117	Duodenitis	Inflammation of the lining of the upper small intestine (duodenum).
HP:0033118	Abnormal right ventricular function	Anomalous physiology (function) of the right ventricle.
HP:0033119	Elevated right ventricular systolic pressure	Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.
HP:0033120	Nummular eczema	A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet
HP:0033121	Barking cough	A cough with a characteristic sound that has been compared to a seal's bark.
HP:0033122	Absent P wave	The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.
HP:0033123	Elevated circulating osteopontin level	Abnormally increased level of osteopontin in the blood circulation
HP:0033124	Increased serum sorbitol concentration	An increased level of sorbitol in the blood circulation.
HP:0033125	Follicular lymphoma	An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement.
HP:0033126	Cutaneous necrosis	Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red coloured skin.
HP:0033127	Abnormality of the musculoskeletal system	An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.
HP:0033128	Delayed ability to crawl	A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.
HP:0033129	Abnormal shoulder physiology	Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.
HP:0033130	Abnormal renal echogenicity	Anomalous echogenicity of the kidney on ultrasound examination.
HP:0033131	Renal medullary hyperechogenicity	Increased echogenecity of the medullary region of the kidney.
HP:0033132	Renal cortical hyperechogenicity	Increased echogenecity of the kidney cortex.
HP:0033133	Renal cortical hypoechogeneity	
HP:0033134	Abdominal adhesions	Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).
HP:0033135	Hepatic infarction	Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.
HP:0033136	Lymph node abscess	An inflammed lymph node that is filled with pus.
HP:0033137	Abnormal pulmonary alveolar system morphology	A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.
HP:0033138	Right atrial thrombus	A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.
HP:0033139	Elevated circulating uracil concentration	Concentration of uracil in the blood circulation is above the normal range.
HP:0033140	Blake's pouch cyst	The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.
HP:0033141	Severe SARS-CoV-2 infection	Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.
HP:0033142	Long nasal bridge	Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.
HP:0033143	Jejunitis	Inflammation of the lining of the middle section of the small intestine.
HP:0033144	Abnormal circulating ceruloplasmin concentration	Any deviation of the concentration of ceruloplasmin in the blood from the normal range.
HP:0033145	Increased circulating ceruloplasmin concentration	Elevated concentration of ceruloplasmin in the blood circulation.
HP:0033146	Elevated circulating methylsuccinic acid concentration	Increased concentration of methylsuccinic acid in the blood circulation.
HP:0033147	Abnormal circulating short-chain fatty-acid concentration	Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.
HP:0033148	Increased circulating isovaleric acid concentration	Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.
HP:0033149	Intrahepatic bile duct dilatation	Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).
HP:0033150	Anorectal abscess	An abscess located at the junction of the anal canal and the rectum.
HP:0033151	Abnormal pharynx morphology	A structural anomaly of the pharynx.
HP:0033152	Abnormal pharynx physiology	A functional anomaly of the pharynx.
HP:0033153	Elevated circulating dodecenoylcarnitine concentration	An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.
HP:0033154	Elevated circulating deoxypyridinoline concentration	An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation.
HP:0033155	Elevated circulating L-alloisoleucine concentration	Abnormally increased concentration of L-alloisoleucine in the blood circulation.
HP:0033156	Elevated urine L-alloisoleucine level	Abnormally increased level of L-alloisoleucine in the urine.
HP:0033157	Elevated circulating 3-methylhistidine concentration	Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.
HP:0033158	Reduced respiratory ciliary beating frequency	An abnormal reduction in the number of beats per unit time of the respiratory cilia.
HP:0033159	Reduced urinary inosine level	Decreased level of inosine in urine. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.
HP:0033160	Decreased urinary guanosine level	Decreased level of guanosine in urine. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.
HP:0033161	Abnormal urinary purine level	Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.
HP:0033162	Abnormal urinary pyrimidine level	Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.
HP:0033163	Small intestinal bacterial overgrowth	An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.
HP:0033164	Focal active colitis	Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.
HP:0033165	Necrotizing enterocolitis	Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.
HP:0033166	Recurrent viral upper respiratory tract infections	An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).
HP:0033167	Neutrophilic urticarial dermatosis	A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.
HP:0033168	Reduced mevalonate kinase activity	Abnormally reduced activity of mevalonate kinase, ,which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.
HP:0033169	Reduced total lung capacity	Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.
HP:0033170	Abnormal skinfold thickness measurement	Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.
HP:0033171	Abnormal triceps skinfold thickness	Any deviation from the normal range of the thickness of the tricpes skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.
HP:0033172	Increased triceps skinfold thickness	Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.
HP:0033173	Milky appearance of bronchoalveolar lavage fluid	Return of lavage fluid with a milky apperance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.
HP:0033174	Bloody bronchoalveolar lavage fluid	Return of lavage fluid characteristically has a bloody apperance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.
HP:0033175	Elevated circulating 5-oxoproline concentration	Concentration of L-pyroglutamic acid in the blood is above the normal range.
HP:0033176	Submandibular lymph node enlargement	Increased size of the lymph nodes that are located beneath the mandible (lower jaw).
HP:0033177	Elevated circulating suberic acid concentration	An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.
HP:0033178	Increased circulating interleukin 8 concentration	An increased concentration of interleukin-8 in the circulation.
HP:0033179	Elevated circulating aconitic acid concentration	An increased concentration of aconitic acid in the blood circulation.
HP:0033180	Torsion of appendix of testis	The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.
HP:0033181	Spinal epidural abscess	Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.
HP:0033182	Increased circulating cathepsin D level	An increase in concentration of cathepsin D in the blood circulation.
HP:0033183	Bilobed right lung	A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.
HP:0033184	Triggered by infection	
HP:0033185	Triggered by EBV infection	Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus.
HP:0033186	Misalignment of the pulmonary veins	The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.
HP:0033187	Hyperimidodipeptiduria	Elevated levels of proline-containing dipeptides in urine.
HP:0033188	Cystic acne	A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.
HP:0033189	Radiculomegaly	Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.
HP:0033190	Hypertrichotic hyperpigmented patch	A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.
HP:0033191	Increased circulating selenium concentration	An increased concentration of selenium in the blood circulation.
HP:0033192	Decreased circulating selenium concentration	An abnormally reduced concentration of selenium in the blood circulation.
HP:0033193	Ballooning hepatocyte degeneration	Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.
HP:0033194	Perioral erythema	Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.
HP:0033195	Perianal erythema	Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.
HP:0033196	Portal inflammation	Infiltration of portal fields by inflammatory cells.
HP:0033197	Hepatic lobular inflammation	Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).
HP:0033198	Triggered by viral infection	Applies to a sign or symptom that is provoked or brought about by infection by a virus.
HP:0033199	Increased circulating interleukin 10 concentration	An elevation of the concentration of interleukin 10 in the blood circulation.
HP:0033200	Triceps hyporeflexia	Reduced intensity of the triceps tendon reflex.
HP:0033201	Biceps hyporeflexia	Reduced intensity of the biceps tendon reflex.
HP:0033202	Brachioradialis hyporeflexia	Reduced intensity of the brachioradialis tendon reflex.
HP:0033203	Brachioradialis hyperreflexia	Increased intensity of the brachioradialis reflex.
HP:0033204	Triceps hyperreflexia	Increased intensity of the triceps reflex.
HP:0033205	Biceps hyperreflexia	Increased intensity of the biceps reflex.
HP:0033206	Hyperactive Achilles reflex	Increased intensity of the Achilles reflex.
HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.
HP:0033208	Alveolar capillary dysplasia	A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.
HP:0033209	Acinar dysplasia	Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.
HP:0033210	Congenital alveolar dysplasia	Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.
HP:0033211	Decreased total iron binding capacity	A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.
HP:0033212	Abnormal total iron binding capacity	Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.
HP:0033213	Elevated urine suberic acid level	An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.
HP:0033214	Recurrent viral pneumonia	Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.
HP:0033215	Obliterative abnormality of the renal glomerulus	
HP:0033216	Glomerular hyalinosis	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.
HP:0033217	Perihilar glomerular hyalinosis	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.
HP:0033218	Glomerular hyalinosis at the tubular pole	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.
HP:0033219	Glomerular hyalinosis away from the vascular and tubular poles	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.
HP:0033220	2-ethylhydracylic aciduria	An increased concentration of 2-ethylhydracylic acid in the urine.
HP:0033221	Increased CD4:CD8 ratio	An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.
HP:0033222	Decreased CD4:CD8 ratio	An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
HP:0033223	Abnormal glomerular parietal epithelial cell morphology	Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.
HP:0033224	Glomerular parietal epithelial cell hyperplasia	Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.
HP:0033225	Glomerular parietal epithelial cell hypertrophy	An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present
HP:0033226	Bowman capsular hyaline drops	An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.
HP:0033227	Glomerular synechial adhesion	An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.
HP:0033228	Triceps areflexia	Inability to elicit triceps tendon reflex.
HP:0033229	Brachioradialis areflexia	Inability to elicit brachioradialis tendon reflex.
HP:0033230	Biceps areflexia	Inability to elicit biceps tendon reflex.
HP:0033231	Abnormal glomerular mesangial cellularity	Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.
HP:0033232	Abnormal glomerular mesangial matrix morphology	Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.
HP:0033233	Paramesangial deposits	Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.
HP:0033234	Mesangial hyaline deposition	Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.
HP:0033235	Difficulty descending stairs	Reduced ability to desscend stairs.
HP:0033236	Cognitive fatigue	A failure to sustain attention that requires self-motivation to optimize performance.
HP:0033237	Visceral epithelial cell detachment	Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.
HP:0033238	Podocyte microvillous transformation	Cytoplasmic projections into the urinary space from the luminal side of the podocyte.
HP:0033239	Visceral epithelial cell capping	Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.
HP:0033240	Elevated RV/TLC ratio	An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.
HP:0033241	Polyalveolar lobe	An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.
HP:0033242	Horseshoe lung	A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.
HP:0033243	Pulmonary necrosis	Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.
HP:0033244	Glycogen accumulation in pulmonary interstitial cells	Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.
HP:0033245	Abnormal alveolar type II pneumocyte morphology	Any structural abnormality of alveolar type 2 (ATII) cells.
HP:0033246	Type II pneumocyte hypertrophy	Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.
HP:0033247	Pulmonary amyloidosis	Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
HP:0033248	Multiple pulmonary interstitial hyalinized nodules	Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.
HP:0033249	Focal substantia nigra T2 hyperintensity	Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.
HP:0033250	Nailfold capillary tortuosity	An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.
HP:0033251	Elevated residual volume	Increase in the amount of air remaining in a person's lungs after full exhalation.
HP:0033252	Palmar hyperlinearity	Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
HP:0033253	Reduced circulating interferon gamma concentration	A reduction in the concentration of interferon gamma measured in the blood circulation.
HP:0033254	Anorectal stricture	Narrowing of the anorectum associated with inflammation or scar tissue.
HP:0033255	Congenital lobar overinflation	A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.
HP:0033256	Pancolitis	Inflammation of the entire colon.
HP:0033257	Delayed ability to walk with support	A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.
HP:0033258	Sudden unexpected death in epilepsy	Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.
HP:0033259	Non-motor seizure	A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.
HP:0033260	Livedo racemosa	Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.
HP:0033261	Renal artery aneurysm	Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.
HP:0033262	Transphyseal fracture of the distal humerus	A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.
HP:0033263	Absent platelet dense granules	Lack of platelet dense granules, a type of platelet organelles.
HP:0033264	Enlarged platelet dense granules	Increased size of platelet dense granules.
HP:0033265	Podocyte myelin figures	Lamellated intracytoplasmic lipid inclusions within podocytes.
HP:0033266	Glomerular pseudocrescent	Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.
HP:0033267	Abnormal glomerular capillary lumen morphology	Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.
HP:0033268	Deflation of the glomerular tuft	Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.
HP:0033269	Glomerular capillary collapse	Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).
HP:0033270	Glomerular capillary congestion	Global distention of glomerular capillaries with intraluminal intact red blood cells.
HP:0033271	Glomerular capillary microaneurysm	Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.
HP:0033272	Abnormal glomerular endothelial cell morphology	An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.
HP:0033273	Loss of glomerular endothelial cell fenestration	Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.
HP:0033274	Glomerular endotheliosis	Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.
HP:0033275	Glomerular endothelial tubuloreticular inclusion	Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.
HP:0033277	Glomerular fibrinoid necrosis	Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.
HP:0033278	Reduced CD95-induced lymphocyte apoptosis	Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.
HP:0033279	Enterocutaneous fistula	An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.
HP:0033280	Paratracheal lymphadenopathy	Enlargement of lymph nodes surrounding the trachea.
HP:0033281	Circulating nucleated red blood cells	The presence of nucleated red blood cells in the peripheral blood circulation.
HP:0033282	Abnormal glomerular basement membrane morphology	Any abnormal sttructure of the glomerular basement membrane.
HP:0033283	Segmentally thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.
HP:0033284	Diffusely thickened glomerular basement membrane	Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.
HP:0033285	Thickened glomerular basement membranes with no electron dense deposits	Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.
HP:0033286	Thickened glomerular basement membranes with electron dense deposits	
HP:0033287	Glomerular basement membrane lucencies	Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.
HP:0033288	Glomerular basement membrane spikes	
HP:0033289	Glomerular basement membrane wrinkling	Irregular folding of the glomerular basement membrane with an intact lamina densa.
HP:0033290	Glomerular subendothelial widening	Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.
HP:0033291	Glomerular karyhorrhectic debris	Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.
HP:0033292	Glomerular fibrin thrombus	An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.
HP:0033293	Glomerular hyaline pseudothrombus	Intracapillary amorphous, eosinophilic material consisting of immune deposits.
HP:0033294	Glomerular lipoprotein thrombus	Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.
HP:0033295	Mesangial Immune complex deposition	Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.
HP:0033296	Binucleated visceral epithelial cells	Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.
HP:0033297	Multinucleated visceral epithelial cells	Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.
HP:0033298	Abnormal circulating complement factor H related protein 1 concentration	A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)
HP:0033299	Reduced circulating complement factor H related protein 1 concentration	Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.
HP:0033300	Increased circulating complement factor H related protein 1 concentration	Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.
HP:0033301	Elevated circulating 1-methylhistidine concentration	An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.
HP:0033302	Elevated circulating 4-hydroxyphenylacetic acid concentration	An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation.
HP:0033303	Elevated urinary monocarboxylic acid level	Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.
HP:0033305	Abnormal circulating fetuin A concentration	Any deviation from the normal concentration of fetuin A in the blood circulation.
HP:0033306	Decreased circulating fetuin A concentration	A reduction below normal of fetuin A in the blood circulation.
HP:0033307	Increased circulating fetuin A concentration	An elevation above normal of fetuin A in the blood circulation.
HP:0033308	Patellar overgrowth	Excessive growth of the kneecap (patella).
HP:0033309	Ileoileal intussusception	A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.
HP:0033310	Osmotic diarrhea	Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.
HP:0033311	Abdominal aortic dissection	A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.
HP:0033312	Abnormal Bowman space morphology	Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.
HP:0033313	Urinary space collagenization	Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.
HP:0033314	Visceral epithelial cell hyperplasia	Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.
HP:0033315	Visceral epithelial hyaline droplets	Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.
HP:0033316	Glomerular crescent formation	Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.
HP:0033317	Cellular crescent	A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.
HP:0033318	Fibrocellular crescent	A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.
HP:0033319	Fibrous crescent	A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.
HP:0033320	Mesangial cell loss	Loss of mesangial cells segmentally or globally.
HP:0033321	Glomerular obsolescence	Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.
HP:0033322	Glomerular capillary wall duplication without cellular interposition	Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.
HP:0033323	Glomerular capillary wall duplication with cellular interposition	Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.
HP:0033324	Elevated circulating homovanillic acid concentration	Increased concentration of homovanillic acid in the blood circulation.
HP:0033325	Elevated circulating sebacic acid concentration	Increased concentration of sebacic acid in the blood circulation.
HP:0033326	Elevated circulating hydroxyphenlyllactic acid concentration	An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.
HP:0033327	Nail psoriasis	Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.
HP:0033328	Type II pneumocyte hyperplasia	Increase in the number of type II pneumocytes.
HP:0033329	Abnormal postural reflex	Anomaly of the physiological response to maintain the body's posture when movement and position is altered.
HP:0033330	Impaired neck-righting reflex	Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.
HP:0033331	Acute phase response	Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.
HP:0033332	Elevated circulating amyloid A	An increased concentration of serum amyloid A in the blood circulation.
HP:0033333	Jaw contracture	Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.
HP:0033334	Abnormal embryonic development	An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.
HP:0033335	Abnormal preimplantation embryonic development	An anomaly in the development of the embryo in a stage prior to implantation.
HP:0033336	Zygotic cleavage failure	Failure of a fertilized oocyte to undergo the first round of cell division.
HP:0033337	Abnormal gametogenesis	An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.
HP:0033338	Abnormal female meiosis	Anomalous oocyte meiosis
HP:0033339	Increased circulating inosine concentration	An increased concentration of inosine in the blood circulation.
HP:0033340	Increased circulating guanosine concentration	Increased concentration of guanosine in the blood circulation.
HP:0033341	Elevated circulating sitosterol concentration	An increased concentration of beta-sitosterol in the blood circulation.
HP:0033342	Anti-aquaporin 4 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.
HP:0033343	Mucoid diarrhea	Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.
HP:0033344	Pleural cobblestoning	A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.
HP:0033345	Neuralgia	Pain (An unpleasant sensory and emotional experience) along the course of a nerve.
HP:0033346	Psychic epileptic aura	Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.
HP:0033347	Cognitive epileptic aura	A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.
HP:0033348	Epileptic aura	An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.
HP:0033349	Seizure cluster	A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient.
HP:0033350	Elevated forced expiratory volume in one second	An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.
HP:0033351	Candida esophagitis	Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.
HP:0033352	Pulmonary hypertensive crisis	Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.
HP:0033353	Abnormal blood vessel morphology	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).
HP:0033354	Abnormal urine metabolite level	Any deviation from the normal amount of a metabolite in urine.
HP:0033355	Increased urine deoxypyridinoline level	An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.
HP:0033356	Elevated circulating o-phosphoserine concentration	An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.
HP:0033357	Limited head rotation	Reduced range of motion turning the head side to side.
HP:0033358	Abnormal urine osmolality	A deviation from the normal range of concentration of particles in urine.
HP:0033359	Hyperosthenuria	An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.
HP:0033360	Impaired ability to shift attention	A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.
HP:0033361	Nasal ulcer	An open sore of the nasal mucosa.
HP:0033362	Recurrent coughing spasms	Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.
HP:0033363	Hyaline membranes	Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.
HP:0033364	Lipoid pneumonia	A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.
HP:0033365	Endogenous lipoid pneumonia	A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.
HP:0033366	Exogenous lipoid pneumonia	A type of lipoid pneumonia in which the source of the lipids is external to the body.
HP:0033367	Orthodeoxia	Low level of blood oxygen induced by changing from a recumbent to an upright position.
HP:0033368	Platypnea	A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.
HP:0033369	Cavitating leukodystrophy	A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.
HP:0033370	Bronchial telangiectasia	Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.
HP:0033371	Bronchocentric granulomatosis	Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.
HP:0033372	Abnormal KCO	Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.
HP:0033373	Increased KCO	Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).
HP:0033374	Decreased KCO	Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).
HP:0033375	Anthracosis	Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers.
HP:0033376	Alveolar septal thickening	Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.
HP:0033377	Increased airway neuroendocrine cells	Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).
HP:0033378	Increased airway neuroepithelial bodies	Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.
HP:0033379	Bilateral superior vena cava	The presence of a left and a right superior vena cava.
HP:0033380	Nasal chondritis	Inflammation of the cartilage of the nose.
HP:0033381	Elevated circulating stearoylcarnitine concentration	Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.
HP:0033382	Elevated circulating palmitoylcarnitine concentration	Abnormally increased concentration of palmitoylcarnitine in the blood circulation.
HP:0033383	Decreased compound muscle action potential amplitude	Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.
HP:0033384	Elevated urinary collagen degradation products	Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.
HP:0033385	Elevated urine pyridinoline level	An increased amount of pyridinoline in the urine.
HP:0033386	Abnormal circulating collagen degradation product concentration	Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.
HP:0033387	Elevated circulating pyridinoline concentration	An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.
HP:0033388	Abnormal bronchial artery morphology	Any structural abnormality of a bronchial artery.
HP:0033389	Bronchopulmonary anastomosis	Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.
HP:0033390	Bronchial artery dilatation	Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.
HP:0033391	Bronchial artery hypertrophy	Increase in the volume of bronchial artery wall due to the enlargement of its component cells.
HP:0033392	Perivascular pre-capillary pulmonary artery inflammation	Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).
HP:0033393	Irregularly shaped sperm tail	Irregular or changing caliber (diameter) along the tail of the sperm.
HP:0033394	Anti-carbonic anhydrase II antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.
HP:0033395	Antilactoferrin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.
HP:0033396	Glomerular extracapillary fibrin	Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.
HP:0033397	Bowman-space proteinaceous debris	The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.
HP:0033398	Pleural plaque	Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).
HP:0033399	Persistent fever	Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.
HP:0033400	Acute abdomen	A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.
HP:0033401	Tissue ischemia	Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.
HP:0033402	Digital ischemia	Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.
HP:0033403	Testicular ischemia	Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.
HP:0033404	Intestinal ischemia	Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain.
HP:0033405	Abnormal circulating organic amino compound concentration	Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.
HP:0033406	Elevated circulating o-phosphoethanolamine concentration	An increased concentration of o-phosphoethanolamine in the blood circulation.
HP:0033407	Elevated urine acetoacetic acid level	Elevated amount of acetoacetic acid in the urine.
HP:0033408	Elevated circulating acetoacetic acid concentration	An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.
HP:0033409	Elevated urinary 2-hydroxybutyric acid	An increased amount of 2-hydroxybutyric acid in the urine.
HP:0033410	Elevated circulating cartilage oligomeric matrix protein concentration	An increased blood concentration of cartilage oligomeric matrix protein (COMP).
HP:0033411	Lower extremity akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.
HP:0033412	Upper extremity akinesia	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.
HP:0033413	Upper extremity hypokinesia	Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
HP:0033414	Lower extremity hypokinesia	Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
HP:0033415	Cardiac tamponade	The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.
HP:0033416	Hip adductor weakness	Reduced ability to bring the leg toward the midline of the body.
HP:0033417	Elevated circulating hydroxybutyric acid concentration	An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.
HP:0033418	Elevated circulating 2-hydroxybutyric acid concentration	Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.
HP:0033419	Elevated circulating 3-hydroxybutyric acid concentration	Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.
HP:0033420	Pulmonary arterial plexiform lesion	Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.
HP:0033421	Pulmonary artery intimal thickening	Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.
HP:0033422	Pulmonary artery adventitial fibrosis	Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.
HP:0033423	Pulmonary arterial hypertension with positive acute response to NO challenge	A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at leasy 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.
HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).
HP:0033425	Periungual erythema	Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.
HP:0033426	Pulmonary air embolism	Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.
HP:0033427	Pulmonary capillary angioectasia	Focal accumulation of dilated pulmonary capillaries.
HP:0033428	Systemic autoinflammation	Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.
HP:0033429	Neuroinflammation	Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.
HP:0033430	Non-infectious meningitis	Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.
HP:0033431	Cytomegalovirus colitis	A form of cytomegalovirus infection characterized by infection and inflammation of the colon.
HP:0033432	Opportunistic viral infection	
HP:0033433	Ileocecal ulcer	An erosion of the mucous membrane in the region connecting the ileum and cecum.
HP:0033434	Nasal septum perforation	A full-thickness defect of the nasal septum.
HP:0033435	Abnormal circulating keto acid concentration	A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.
HP:0033436	Elevated circulating 3-methyl-2-oxovaleric acid concentration	An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation.
HP:0033437	Elevated circulating 4-methyl-2-oxopentanoic acid concentration	Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation.
HP:0033438	Elevated circulating myoglobin concentration	An increased blood concentration of myoglobin.
HP:0033439	Elevated circulating decenoylcarnitine concentration	Increased concentration of decenoylcarnitine in the blood circulation.
HP:0033440	Elevated circulating octenoylcarnitine concentration	Increased concentration of octenoylcarnitine in the blood circulation.
HP:0033441	Elevated circulating hexanoylcarnitine concentration	Increased concentration of hexanoylcarnitine in the blood circulation.
HP:0033442	Elevated circulating glutarylcarnitine concentration	Increased concentration of glutarylcarnitine in the blood circulation.
HP:0033443	Elevated circulating propionylcarnitine concentration	Increased concentration of propionylcarnitine in the blood circulation.
HP:0033444	Elevated circulating dodecanoylcarnitine concentration	Increased concentration of dodecanoylcarnitine in the blood circulation.
HP:0033445	Reduced circulating acylcarnitine concentration	An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.
HP:0033446	Elevated circulating butyrylcarnitine concentration	Increased concentration of O-butyrylcarnitine in the blood circulation.
HP:0033447	Elevated circulating isovalerylcarnitine concentration	Increased concentration of O-isovalerylcarnitine in the blood circulation.
HP:0033448	Increased mid-arm muscle circumference	Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.
HP:0033449	Decreased mid-arm muscle circumference	Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.
HP:0033450	Abnormal circulating prealbumin concentration	Any deviation from normal concentration of albumin in the blood circulation.
HP:0033451	Increased circulating prealbumin concentration	An elevation above the normal concentration of prealbumin in the blood circulation.
HP:0033452	Decreased circulating prealbumin concentration	A reduction from the normal concentration of prealbumin in the blood circulation.
HP:0033453	Limited neck extension	Reduced abilty to move the head back towards the ceiling so that one is looking upwards.
HP:0033454	Tube feeding	Feeding problem necessitating food and nutrient delivery via a tube.
HP:0033456	Elevated urine keto acid level	Increased amount of a keta acid in the urine.
HP:0033457	Elevated urine 3-methyl-2-oxovaleric acid level	Increased amount of 3-methyl-2-oxovaleric acid in the urine.
HP:0033458	Elevated urine 4-methyl-2-oxopentanoic acid level	Increased amount of 4-methyl-2-oxopentanoic acid in the urine.
HP:0033459	Decreased circulating apolipoprotein concentration	Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).
HP:0033460	Increased circulating apolipoprotein circulation	Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).
HP:0033461	Elevated circulating 3-hydroxylinoleylcarnitine concentration	Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.
HP:0033462	Elevated circulating oleylcarnitine concentration	Increased concentration of oleylcarnitine in the blood circulation.
HP:0033464	Elevated circulating 3-hydroxypalmitoleylcarnitine concentration	Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation.
HP:0033465	Elevated circulating tetradecanoylcarnitine concentration	Elevated circulating tetradecanoyl concentration.
HP:0033466	Weak grip	Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.
HP:0033467	Low 10-minute APGAR score	A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.
HP:0033468	10-minute APGAR score of 0	
HP:0033469	10-minute APGAR score of 1	
HP:0033470	10-minute APGAR score of 2	
HP:0033471	10-minute APGAR score of 3	
HP:0033472	10-minute APGAR score of 4	
HP:0033473	10-minute APGAR score of 5	
HP:0033474	10-minute APGAR score of 6	
HP:0033475	Limited shoulder abduction	Decreased ability to move the arm away from the midline of the body.
HP:0033476	Extractable nuclear antigen positivity	The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.
HP:0033477	Abnormal circulating lipoprotein lipase concentration	A deviation from the normal concentration of lipoprotein lipase in the blood circulation.
HP:0033478	Increased circulating lipoprotein lipase concentration	Increased concentration of lipoprotein lipase in the blood circulation.
HP:0033479	Abnormal circulating bilirubin concentration	
HP:0033480	Hypobilirubinemia	Decreased circulation of bilirubin in the blood circulation.
HP:0033481	Limited lateral neck flexion	Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.
HP:0033482	Limited shoulder flexion	A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.
HP:0033483	Podocyte infolding	Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.
HP:0033484	Elevated circulating linoleylcarnitine concentration	Increased concentration of linoleylcarnitine in the blood circulation.
HP:0033485	Glomerular basement membrane disruption	A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.
HP:0033486	Abnormal glomerular basement membrane texture	Anomalous appearance or structure of the surface of the glomerular basement membrane.
HP:0033487	Glomerular basement membranes powdery deposit	Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.
HP:0033488	Glomerular endocapillary leukocyte hypercellularity	Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.
HP:0033489	Glomerular endocapillary neutrophil hypercellularity	Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.
HP:0033490	Glomerular endocapillary foam-cell hypercellularity	Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.
HP:0033491	Global mesangial sclerosis	A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).
HP:0033492	Podocyte cytoskeletal condensation	Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.
HP:0033493	Mesangial matrix expansion	Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.
HP:0033494	Glomerular basement membrane amyloid spicule	Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.
HP:0033495	Segmental glomerulosclerosis	Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule.
HP:0033496	Perihilar segmental glomerulosclerosis	Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.
HP:0033497	Tip variant segmental glomerulosclerosis	Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.
HP:0033498	Segmental glomerulosclerosis away from the vascular and tubular poles	Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.
HP:0033499	Glomerular basement membrane electron dense deposits	Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.
HP:0033500	Subendothelial glomerular basement membrane electron dense deposits	Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.
HP:0033501	Subepithelial glomerular basement membrane electron dense deposits	Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.
HP:0033502	Abnormal esterified to free carnitine ratio	Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.
HP:0033503	Elevated CSF fumarate concentration	An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.
HP:0033504	Elevated circulating fumarate concentration	An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.
HP:0033505	Livedo reticularis	Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.
HP:0033506	Increased esterified to free carnitine ratio	An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.
HP:0033507	Decreased esterified to free carnitine ratio	A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.
HP:0033508	EBV meningitis	Inflammation of the meninges related to infection by Epstein-Barr virus.
HP:0033509	EBV encephalitis	Inflamation of the brain related to infection by Epstein-Barr virus.
HP:0033510	Cutaneous horn	A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.
HP:0033511	Drug addiction	Chronic compulsive drug seeking and continued use despite harmful consequences.
HP:0033512	Stimulant addiction	Addiction to a stimulant drug, defined as a drug that typically increases alertness, attention and energy while also elevating blood pressure, heart rate and breathing.
HP:0033513	Cocaine addiction	Addiction to cocaine.
HP:0033514	Amphetamine addiction	Addiction to amphetamine or dextroamphetamine.
HP:0033515	Opioid addiction	Addiction to opioids.
HP:0033516	Benzodiazepine addiction	Addiction to a benzodiazepine.
HP:0033517	Heroin addiction	Addiction to heroin.
HP:0033518	Methylphenidate addiction	Addiction to methylphenidate.
HP:0033519	Methamphetamine addiction	Addiction to methamphetamine.
HP:0033520	Paradoxical embolism	Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.
HP:0033521	Nasal dryness	A lack of humidification of the nasal mucosa.
HP:0033522	Cerebral cavernous malformation	A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.
HP:0033523	Abnormal sperm principal piece morphology	A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.
HP:0033524	Abnormal sperm axoneme morphology	Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.
HP:0033525	Absent sperm axoneme central pair complex	Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.
HP:0033526	Limited ankle dorsiflexion	Reduced ability to move the foot up toward the shin.
HP:0033527	Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio	A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).
HP:0033528	Abnormal cardiac output	A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.
HP:0033529	Abnormal cardiac index	Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.
HP:0033530	Increased cardiac index	An elevated cardiac index, defined as cardiac output divided by body surface area.
HP:0033531	Decreased cardiac index	A reduced cardiac index, defined as cardiac output divided by body surface area.
HP:0033532	Decreased cardiac output	A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.
HP:0033533	Increased cardiac output	An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.
HP:0033534	Increased circulating brain natriuretic peptide concentration	An increased concentration of brain natriuretic peptide in the blood circulation.
HP:0033535	Reduced platelet dense granules	Decreased number of platelet dense granules, a type of platelet organelle.
HP:0033536	Reduced platelet alpha granules	A reduced number of platelet alpha granules.
HP:0033537	Mosaic pulmonary attenuation pattern	Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.
HP:0033538	Aortic annulus calcification	Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.
HP:0033539	Bilateral apical pulmonary fibrosis	A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.
HP:0033540	Reversible airflow obstruction	Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.
HP:0033541	Irreversible airflow obstruction	Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.
HP:0033542	Bronchial wall thickening	Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.
HP:0033543	Nicotine addiction	Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences.
HP:0033544	Mesangial fibril deposition	Extracellular mesangial accumulation of slender proteinaceous fibers.
HP:0033545	Mesangial fibrillary deposits	Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.
HP:0033546	Mesangial microfibril deposition	Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.
HP:0033547	Mesangial immunotactoid deposits	Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.
HP:0033548	Mesangial amyloid deposition	Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.
HP:0033549	Nodular mesangiosclerosis	Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.
HP:0033550	Necrotizing pulmonary granulomatosis	A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.
HP:0033551	Non-necrotizing pulmonary granulomatosis	A granuloma located in the lung that is not associated with necrotic changes.
HP:0033552	Chronic villitis	Villitis of unknown etiology (synonymous with villitis of unknown aetiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.
HP:0033553	Septic embolism	Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.
HP:0033554	Anti-Mi2 antibody positivity	The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.
HP:0033555	Anti-Ro/SS-A antibody positivity	The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.
HP:0033556	Anti-nucleoporin 62 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.
HP:0033557	Anti-proteinase 3 antibody positivity	The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils
HP:0033558	Anti-histone antibody positivity	The presence of autoantibodies in the blood circulation that react against histone antigens.
HP:0033559	Anti-myeloperoxidase antibody positivity	The presence of autoantibodies in the blood circulation that react against myeloperoxidase.
HP:0033560	Anti-PM-Scl antibody positivity	Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.
HP:0033561	Anti-bactericidal/permeability-increasing protein antibody positivity	The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa.  BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.
HP:0033562	Anti-glycoprotein-210 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.
HP:0033563	Anti-tissue transglutaminase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.
HP:0033564	Stasis dermatitis	Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.
HP:0033565	Anti-epidermal transglutaminase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.
HP:0033566	Abnormal ventricular axis	Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.
HP:0033567	Right axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.
HP:0033568	Left axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.
HP:0033569	Extreme axis deviation	A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.
HP:0033570	Indeterminate ventricular axis	A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.
HP:0033571	Peripheral lung neovascularity	The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.
HP:0033572	Anti-H1 antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H1.
HP:0033573	Anti-H4 antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H4.
HP:0033574	Anti-H3 antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H3.
HP:0033575	Anti-H2A antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H2A.
HP:0033576	Anti-H2B antibody positivity	The presence of autoantibodies in the blood circulation that react against histone H2B.
HP:0033577	In situ pulmonary artery thrombosis	Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.
HP:0033578	Pre-capillary pulmonary hypertension	Pre-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).
HP:0033579	Decreased growth hormone responses to growth hormone-releasing hormone challenge	Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.
HP:0033580	Compound motor action potential abnormality	An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibres in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fibre action potentials. The shortest latency of the CMAP is the time from stimulus artefact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).
HP:0033581	Absent peripheral lymph nodes in presence of infection	The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.
HP:0033582	Pulmonary interstitial lymphocyte infiltration	Abnormal accumulation of lymphocytes in the interstitium of the lung.
HP:0033583	Follicular bronchiolitis	Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.
HP:0033584	Nonspecific interstitial pneumonia	Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.
HP:0033585	Fibrotic non-specific interstitial pneumonia	A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.
HP:0033586	Cellular non-specific interstitial pneumonia	A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.
HP:0033587	Vulvar abscess	A circumscribed area of pus or necrotic debris in the vulvar region.
HP:0033588	Labial adhesion	Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.
HP:0033589	Flatulence	Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.
HP:0033590	Inguinal abscess	A circumscribed area of pus or necrotic debris in the groin (inguinal region).
HP:0033591	Staghorn calculus	Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.
HP:0033592	Anti-H3-H4 antibody positivity	The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.
HP:0033593	Anti-H2A-H2B antibody positivity	The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.
HP:0033594	Elevated urinary 7-biopterin level	An abnormally increased amount of 7-biopterin in the urine.
HP:0033595	Elevated circulating globotriaosylceramide concentration	Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.
HP:0033596	Elevated urinary 3-methylcrotonylglycine level	An abnormally increased amount of 3-methylcrotonylglycine in the urine.
HP:0033597	Decreased mucosal sucrase-isomaltase activity	Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.
HP:0033598	Fibrillar glomerular subepithelial deposits	Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).
HP:0033599	Glomerular amyloid subepithelial deposits	A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).
HP:0033600	Fibrillary glomerular subepithelial deposits	A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).
HP:0033601	Glomerular subepithelial immune-complex deposits	A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).
HP:0033602	Glomerular hyaline subepithelial deposits	A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).
HP:0033603	Glomerular subepithelial deposits	Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).
HP:0033604	Glomerular capillary wire loop deposits	Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.
HP:0033605	Pustular rash	A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.
HP:0033606	Bone marrow maturation arrest	Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.
HP:0033607	Bone marrow arrest at the promyelocytic stage	A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.
HP:0033608	Pulmonary nodule	Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.
HP:0033609	Solid pulmonary nodule	A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.
HP:0033610	Subsolid pulmonary nodule	Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.
HP:0033611	Part-solid pulmonary nodule	Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.
HP:0033612	Pure ground-glass pulmonary nodule	Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.
HP:0033613	Perifissural pulmonary nodule	Solid, homogenous nodules characterised by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.
HP:0033614	Tracheal bronchus	Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.
HP:0033615	Displaced tracheal bronchus	Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.
HP:0033616	Accessory cardiac bronchus	Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.
HP:0033617	Supernumerary tracheal bronchus	Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.
HP:0033618	Displaced lobar tracheal bronchus	Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.
HP:0033619	Typical perifissural nodule	A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).
HP:0033620	Atypical perifissural nodule	A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).
HP:0033621	Bronchial diverticula	Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.
HP:0033622	Migratory erythematous plaque	A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.
HP:0033623	Birth history	Information about the delivery and health status at birth typically elicited as a part of the past medical history.
HP:0033624	History of congenital CMV infection	A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.
HP:0033625	Emotional insecurity	A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability which is perceived as threatening.
HP:0033626	Increased non-HDL cholesterol concentration	Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).
HP:0033627	Increased urine harderoporphyrin level	Increased amount of harderoporphyrin in the urine.
HP:0033628	Bowel irritability	Intermittent abdominal pain with diarrhea and/or constipation.
HP:0033629	IgG4 autoimmune antibody positivity	The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.
HP:0033630	Brain fog	Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.
HP:0033631	Spondylitis	Inflammation of the vertebrae (vertebral bodies) or spine.
HP:0033632	Abnormal alveolar volume	Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.
HP:0033633	Decreased alveolar volume	An abnormal reduction in alveolar volume.
HP:0033634	Increased alveolar volume	An abnormal elevation in alveolar volume.
HP:0033635	Post-capillary pulmonary hypertension	Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).
HP:0033636	Combined pre- and post-capillary pulmonary hypertension	Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).
HP:0033637	Anti-endomysial antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).
HP:0033638	Intralobular septal thickening	Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.
HP:0033639	Septic pulmonary embolism	Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.
HP:0033640	Acetabular erosions	Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.
HP:0033641	Aortic valve leaflet calcification	Deposition of calcium salts in the leaflets (cusps) of the aortic valve.
HP:0033642	Mitral valve leaflet calcification	Deposition of calcium salts in the leaflets (cusps) of the mitral valve.
HP:0033643	Increased circulating very long-chain fatty acid concentration	Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.
HP:0033644	Elevated circulating erythropoietin concentration	Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.
HP:0033645	Midline brainstem cleft	A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons.
HP:0033646	Absent hippocampal commissure	Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.
HP:0033647	Silhouette sign	The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.
HP:0033648	Pulmonary pseudocavity	A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.
HP:0033649	Paraseptal emphysema	Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.
HP:0033650	Pulmonary parenchymal band	A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.
HP:0033651	Pulmonary mycetoma	A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.
HP:0033652	Broncholith	A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis
HP:0033653	Bronchocele	A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.
HP:0033654	Beaded septum sign	Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.
HP:0033655	Pulmonary cavity	A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.
HP:0033656	Juxtaphrenic peak	A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.
HP:0033657	Linear atelectasis	Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.
HP:0033658	Rounded atelectasis	Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.
HP:0033660	Hand paresthesia	Tingling (often refered to as a pins and needles feeling) and numbness in the hand.
HP:0033661	Air crescent	An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.
HP:0033662	Air bronchogram	An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).
HP:0033663	Air trapping	Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.
HP:0033664	Ganglioglioma	Gangliogliomas are rare tumors of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumors consisting of both dysplastic neuronal and neoplastic glial cells.
HP:0033665	Diminished health-related quality of life	A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.
HP:0033666	Diminished physical functioning	A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.
HP:0033667	Diminished mental health	A reduction in the subjective feeling of mental well being.
HP:0033668	Abnormal amygdala morphology	A structural anomaly of the amygdala.
HP:0033669	Enlarged amygdala	A increase in the volume (size) of the amygdyla.
HP:0033670	Organizing pneumonia	Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.
HP:0033671	Pulmonary oligemia	Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.
HP:0033672	Positive carpal Tinel sign	The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.
HP:0033673	Positive Phalen test	The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).
HP:0033674	Pulmonary blood flow redistribution	Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.
HP:0033675	Frailty	A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.
HP:0033676	Posttraumatic stress symptom	A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events. Posttraumatic stress disorder (PTSD) symptoms include intrusive recollections (re-experiencing the trauma in flashbacks, memories or nightmares); avoidant and numbing symptoms (including diminished emotions and avoidance of situations that are reminders of the traumatic event); and hyperarousal (including increased irritability, exaggerated startle reactions or difficulty sleeping or concentrating).
HP:0033677	Acute respiratory distress syndrome	Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.
HP:0033678	Acute coronary syndrome	The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).
HP:0033679	Abnormal red nucleus morphology	Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.
HP:0033680	Pilocytic astrocytoma	The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signalling pathway abnormalities.
HP:0033681	Oligodendroglioma	Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.
HP:0033682	Pleomorphic xanthoastrocytoma	Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.
HP:0033683	Jaw hyperreflexia	Increased intensity of muscle tendon reflexes in jaw.
HP:0033684	Abnormal muscle fiber-type distribution	Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types
HP:0033685	Fiber type grouping	An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.
HP:0033686	Mitochondrial hypertrophy	Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.
HP:0033687	Short term memory impairment	A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).
HP:0033688	Long term memory impairment	A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).
HP:0033689	Anterograde memory impairment	The impaired ability to establish new long-term memories.
HP:0033690	Retrograde memory impairment	Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.
HP:0033691	Procedural memory loss	A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.
HP:0033692	Declarative memory loss	Impaired ability to remember facts and events.
HP:0033693	Phantosmia	Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.
HP:0033694	Tactile hallucination	The false perception of tactile sensory input that creates a hallucinatory sensation of physical contact with an imaginary object.
HP:0033695	Occupational disability	This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.
HP:0033696	Pseudo-chilblain	Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.
HP:0033697	Vesicular eruption	A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.
HP:0033698	Monomorphic vesicular eruption	A type of vesicular eruption in which the vesicles are at same stages.
HP:0033699	Polymorphic vesicular eruption	A type of vesicular eruption in which the vesicles are at different stages.
HP:0033700	Papulovesicular eruption	An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.
HP:0033701	Cortical sclerosis of the iliac wing	Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.
HP:0033702	Subpleural curvilinear line	This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).
HP:0033703	Dysembryoplastic neuroepithelial tumor	Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found
HP:0033704	Elevated urinary homogentisic acid	An increased amount of homogentisic acid in the urine.
HP:0033705	Tearfulness	A feeling of sadness characterized by crying episodes that can come on suddenly and are not under usual social control.
HP:0033706	Progressive massive fibrosis	This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.
HP:0033707	Perioral hyperkeratosis	Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.
HP:0033708	Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity	
HP:0033709	Increased sputum production	An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).
HP:0033710	Rest dyspnea	A perception of shortness of breath that occurs independently of exertion.
HP:0033711	Pulmonary interstitial thickening	Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.
HP:0033712	Repeated implantation failure	Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.
HP:0033713	Anti-signal recognition particle antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.
HP:0033714	Multiple meningiomas	The occurrence of multiple distinct meningiomas in the same individual.
HP:0033715	Hippocampal sclerosis	Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.
HP:0033716	EEG with frontal epileptiform discharges	Focal epileptiform EEG discharges recorded in the frontal region.
HP:0033717	EEG with temporal epileptiform discharges	Focal epileptiform EEG discharges recorded in the temporal region.
HP:0033718	EEG with central epileptiform discharges	Focal epileptiform EEG discharges recorded in the central region.
HP:0033719	EEG with parietal epileptiform discharges	Focal epileptiform EEG discharges recorded in the parietal region.
HP:0033720	EEG with occipital epileptiform discharges	Focal epileptiform EEG discharges recorded in the occipital region.
HP:0033721	EEG with centrotemporal epileptiform discharges	Focal epileptiform EEG discharges recorded in the centrotemporal region.
HP:0033722	Autonomic epileptic aura	An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.
HP:0033723	Abnormal cerebral venous sinus morphology	Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.
HP:0033724	Cerebral venous sinus thrombosis	An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.
HP:0033725	Thin corpus callosum	An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).
HP:0033726	Lupus nephritis	Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.
HP:0033727	Diffuse lupus nephritis	A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.
HP:0033728	Mesangial proliferative lupus nephritis	A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.
HP:0033729	Minimal mesangial lupus nephritis	A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.
HP:0033730	Membranous lupus nephritis	A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis
HP:0033731	Focal lupus nephritis	A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations
HP:0033732	Advanced sclerotic lupus nephritis	A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.
HP:0033733	Low-grade vesicoureteral reflux	Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).
HP:0033734	High-grade vesicoureteral reflux	Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).
HP:0033735	Grade I vesicoureteral reflux	Vesicoureteral reflux into the ureter only.
HP:0033736	Grade II vesicoureteral reflux	Vesicoureteral reflux into a non-dilated pyelocalyceal system.
HP:0033737	Grade III vesicoureteral reflux	Vesicoureteral reflux with dilatation of the collecting system.
HP:0033738	Primary vesicoureteral reflux	Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.
HP:0033739	Secondary vesicoureteral reflux	Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.
HP:0033740	Grade V vesicoureteral reflux	Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.
HP:0033741	Grade IV vesicoureteral reflux	Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.
HP:0033742	Intrarenal reflux	Severe vesicoureteral reflux reaching the kidney parenchyma.
HP:0033743	Macular agenesis	A congenital defect characterized by lack of development of the macula.
HP:0033744	Global cerebellar dysplasia	A type of cerebellar dysplasia that affects the entire cerebellum.
HP:0033745	Dysplasia of the superior cerebellar vermis	A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.
HP:0033746	Intrascapular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.
HP:0033747	Abnormal exteroceptive sensation	A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.
HP:0033748	Hypoesthesia	Decreased ability to perceive touch.
HP:0033749	Abnormal functional residual capacity	A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.
HP:0033750	Reduced functional residual capacity	An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.
HP:0033751	Elevated functional residual capacity	An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.
HP:0033752	Abnormal residual volume	Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).
HP:0033753	Reduced residual volume	Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.
HP:0033754	Abnormal left ventricular end-diastolic volume	Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).
HP:0033755	Increased left ventricular end-diastolic volume	Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).
HP:0033756	Decreased left ventricular end-diastolic volume	Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).
HP:0033757	Pancreatic steatosis	Fat infiltration in the pancreas.
HP:0033758	Labial abscess	A circumscribed area of pus or necrotic debris in the labia.
HP:0033759	Impaired renal tubular reabsorption of magnesium	Decreased renal tubular reabsorption of magnesium.
HP:0033760	Decreased maximal oxygen uptake	Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.
HP:0033761	Xanthogranulomatous pyelonephritis	Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells.
HP:0033762	Middle cerebral artery stroke	Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain.
HP:0033763	Death in adulthood	Cessation of life at the age of 16 years or later.
HP:0033764	Death in middle age	Death between the age of 40 and 60 years.
HP:0033765	Death in late adulthood	Death at an age of at least 60 years.
HP:0033766	Polymelia	Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).
HP:0033767	Abnormal single motor unit action potential	Abnormally high or low single motor unit action potential reading (-Pk Amps).
HP:0033768	Penile thrush	Overgrowth of candida albicans in the penis.
HP:0033769	Fundic gland polyposis	Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.
HP:0033770	Gastric adenocarcinoma	An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.
HP:0033771	Pleuritic chest pain	Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.
HP:0033772	Abnormal RV/TLC ratio	Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.
HP:0033773	Decreased RV/TLC ratio	An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.
HP:0033774	Impaired renal tubular reabsorption of uric acid	Decreased renal tubular reabsorption of uric acid.
HP:0033775	Pulmonary imaging sign	An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.
HP:0033776	Enamel pearls	Small nodules of enamel on the root of a tooth.
HP:0033777	Supernumerary cusp	Additional cusps of a dental crown.
HP:0033778	Leung cusp	An additional cusp located in the middle of the occlusal surface.
HP:0033779	Barrel-shaped tooth	A tooth crown with convex mesial and distal surfaces.
HP:0033780	Bulbous tooth	A tooth crown with a marked cervical area constriction.
HP:0033781	Tapered tooth	A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.
HP:0033782	Semilunar tooth	An incisor with a half-moon shape incisal edge.
HP:0033783	Molar incisor malformation	Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.
HP:0033784	Dentin dysplasia	This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.
HP:0033785	Enamel agenesis	Complete or almost complete absence of enamel.
HP:0033786	Hypomature enamel	Enamel with a white or brown discoloration without hypoplasia.
HP:0033787	Cementum hypoplasia	The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.
HP:0033788	Cementum overgrowth	Excess of cementum on the tooth root surface.
HP:0033789	Triggered by cheese ingestion	Applies to a sign or symptom that is provoked or brought about by eating cheese.
HP:0033790	Thistle tube shaped pulp	A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.
HP:0033791	Tooth ankylosis	Fusion of a tooth with alveolar bone.
HP:0033792	Cross bite	Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.
HP:0033793	Triggered by food ingestion	Applies to a sign or symptom that is provoked or brought about by eating a certain food.
HP:0033794	Acral overgrowth	Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement.
HP:0033795	Growth without growth hormone	
HP:0033796	Abnormal leukocyte physiology	A functional abnormality of a white blood cell.
HP:0033797	Leukocyte migration defect	Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.
HP:0033798	Impaired leukocyte adhesion	During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.
HP:0033799	Abnormal circulating sex hormone concentration	Any deviation from the normal concentration of a sex hormone in the blood circulation
HP:0033800	Blistering by anatomical location	Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.
HP:0033801	Blistering by histological location	Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.
HP:0033802	Intra-epidermal blistering	A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleave occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.
HP:0033803	Sub-lamina densa cleavage	A type of blistering in which the cleavage plane of blisters is located below the lamina densa.
HP:0033804	Subepidermal blistering	A type of blistering in which the lesions are located beneath the epidermis.
HP:0033805	Non-necrotizing granuloma	A granuloma which is not associated with necrotic changes.
HP:0033806	Abnormal epidermis stratum granulosum morphology	An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.
HP:0033807	Absent keratohyalin granules	Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.
HP:0033808	Spermatocele	A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.
HP:0033809	Increased circulating 17 hydroxypregnenolone concentration	Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.
HP:0033810	Decreased circulating dihydrotestosterone concentration	A reduced concentration of dihydrotestosterone in the blood circulation.
HP:0033811	Abnormal circulating androstenedione concentration	Any deviation from the normal concentration of androstenedione in the blood circulation.
HP:0033812	Decreased circulating androstenedione concentration	Reduced concentration of androstenedione in the blood circulation.
HP:0033813	Perilobular	Situated or occurring around a lobe of an organ.
HP:0033814	Paraseptal	Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa.
HP:0033815	Bronchocentric	Centered in bronchi or bronchioles.
HP:0033816	Centrilobular	Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs.
HP:0033817	Miliary	Characterized by numerous small lesions said to resemble millet seed.
HP:0033818	Reticular	Applies to an abnormality whose distribution and appearance resembles a net or network-like structure.
HP:0033819	Perilymphatic	Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel).
HP:0033820	Apical	Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung.
HP:0033821	Pulmonary mass	A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).
HP:0033822	Mass on thoracic imaging	A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.
HP:0033823	Mediastinal mass	A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).
HP:0033824	Pleural mass	A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).
HP:0033825	Superior mediastinal mass	A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).
HP:0033826	Inferior mediastinal mass	A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).
HP:0033827	Anterior mediastinal mass	A type of inferior mediastinal mass that is located in front of the pericardium.
HP:0033828	Middle mediastinal mass	A type of inferior mediastinal mass that is located withinthe pericardium.
HP:0033829	Posterior mediastinal mass	A type of inferior mediastinal mass that is located behind the pericardium.
HP:0033830	Hyperdense pulmonary mass	A type of pulmonary mass with high attenuation.
HP:0033831	Cavitating pulmonary mass	Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.
HP:0033832	Livedo	A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.
HP:0033833	Elevated circulating soluble CD25 concentration	Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.
HP:0033834	Malaise	A feeling of general discomfort, weakness, or lack of health.
HP:0033835	Abnormal renal vascular morphology	Anomalous structure of a blood vessel in the kidney.
HP:0033836	Abnormal intrarenal artery morphology	An anomalous structure of an artery located in the kidney.
HP:0033837	Abnormal arcuate artery morphology	Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.
HP:0033838	Dysphoria	A state of feeling very unhappy, uneasy, or dissatisfied.
HP:0033839	Testicular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.
HP:0033840	Postmenopausal bleeding	Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.
HP:0033841	Ocular pruritus	Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.
HP:0033842	Early satiety	The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.
HP:0033843	Postprandial fullness	Feeling excessively full after meals.
HP:0033844	Tachyphrenia	The sensation that thoughts are moving too quickly.
HP:0033845	Sense of impending doom	A feeling that something life-threatening or tragic is about to occur.
HP:0033846	Spinal hypomyelination	Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.
HP:0033847	Phantageusia	A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.
HP:0033848	Receptive aphasia	A type of aphasia that is characterized by impaired language comprehension.
HP:0033849	Bilingual aphasia	The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.
HP:0033850	Coldness	Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.
HP:0033851	Oculomotor synkinesis	Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.
HP:0033852	Abnormal intrarenal vein morphology	Abnormal structure of a vein located inside the kidney parenchyma.
HP:0033853	Abnormal arcuate vein morphology	Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).
HP:0033854	Abnormal interlobular vein morphology	Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).
HP:0033855	Abnormal interlobular vein lumen morphology	Any structural anomaly located in the the inside space of the interlobular veins of the kidney.
HP:0033856	Cholesterol emboli within interlobular vein lumen	Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033857	Intraluminal thrombi within interlobular veins	Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.
HP:0033858	Organized thrombi within interlobular vein lumen	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.
HP:0033859	Abnormal peritubular capillary morphology	Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,
HP:0033860	Abnormal cortical peritubular capillary morphology	Anomalous structure of the peritubular capillaries located in the cortex of the kidney.
HP:0033861	Multilamellation of cortical peritubular capillary basement membranes	Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.
HP:0033862	Cortical peritubular capillaritis	Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.
HP:0033863	Abnormal cortical peritubular capillary lumen morphology	Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.
HP:0033864	Abnormal medullary peritubular capillary morphology	Anomalous structure of the peritubular capillaries located in the medulla of the kidney.
HP:0033865	Medullary peritubular capillaritis	Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.
HP:0033866	Medullary peritubular capillary erythrocyte congestion	Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).
HP:0033867	Multilamellation of medullary peritubular capillary basement membranes	Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.
HP:0033868	Abnormal medullary peritubular capillary lumen morphology	Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.
HP:0033869	Medullary peritubular capillary lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033870	Medullary peritubular capillary intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.
HP:0033871	Medullary peritubular capillary lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.
HP:0033872	Cortical peritubular capillary lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033873	Cortical peritubular capillary intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.
HP:0033874	Cortical peritubular capillary lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.
HP:0033875	Abnormal arcuate vein lumen morphology	Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.
HP:0033876	Arcuate vein lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033877	Arcuate vein intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.
HP:0033878	Arcuate vein lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.
HP:0033879	Abnormal arcuate vein intima/media morphology	Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.
HP:0033880	Arcuate vein intimal mucoid edema	Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.
HP:0033881	Arcuate vein intimal/medial myxomatous degeneration	Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.
HP:0033882	Arcuate vein intima/medial amyloidosis	Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.
HP:0033883	Abnormal cortical radial artery morphology	Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.
HP:0033884	Abnormal cortical radial artery lumen morphology	Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.
HP:0033885	Cortical radial artery lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033886	Abnormal arcuate artery intima/media morphology	Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.
HP:0033887	Cortical radial artery intimal/medial amyloidosis	Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy
HP:0033888	Abnormal cortical radial artery intima/media morphology	Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.
HP:0033889	Abnormal renal arteriole morphology	Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.
HP:0033890	Abnormal renal arteriole lumen morphology	Abnormal structural characteristics of the interior space (lumen) of renal arterioles.
HP:0033891	Renal arteriolar lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033892	Abnormal renal arteriole intima/media morphology	Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.
HP:0033893	Renal arteriolar lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.
HP:0033894	Renal arteriolar intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.
HP:0033895	Abnormal renal arteriole endothelium morphology	Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.
HP:0033896	Abnormal arcuate artery lumen morphology	Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.
HP:0033897	Arcuate artery lumen cholesterol emboli	Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.
HP:0033898	Arcuate artery intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.
HP:0033899	Arcuate artery lumen organized thrombi	Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.
HP:0033900	Renal arteriole intima/media amyloidosis	Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.
HP:0033901	Abnormal arcuate artery endothelium morphology	Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.
HP:0033902	Arcuate artery endotheliosis	Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.
HP:0033903	Arcuate artery endoarterial hypercellularity	Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.
HP:0033904	Renal arteriole intima/media hyalinosis	Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.
HP:0033905	Arcuate artery intima/media arteriosclerosis	Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.
HP:0033906	Renal intimal/medial arteriolitis	Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.
HP:0033907	Renal arteriole intima/media arteriolosclerosis	Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.
HP:0033908	Renal arteriole medial atrophy	Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.
HP:0033909	Arcuate vein medial hypertrophy	Increased thickness of middle layer of the arcuate veins of the kidney.
HP:0033910	Arcuate vein medial atrophy	Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.
HP:0033911	Cortical radial artery medial hypertrophy	Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.
HP:0033912	Cortical radial artery medial atrophy	Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.
HP:0033913	Cortical radial artery medial/intimal arteriitis	Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.
HP:0033914	Arcuate artery intima/media amyloidosis	Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.
HP:0033915	Arcuate artery intimal mucoid edema	Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.
HP:0033916	Medial/intimal arcuate venosclerosis	Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.
HP:0033917	Arcuate intimal/medial venulitis	Inflammation of arcuate veins of the kidney, which may involve only the intima or can be transmural.
HP:0033918	Renal arteriole medial hypertrophy	Increased thickness of middle layer of the arterioles of the kidney.
HP:0033919	Medial/intimal arcuate venulitis	Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.
HP:0033920	Renal arteriole intima/media storage material accumulation	Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.
HP:0033921	Renal arteriole endoarterial hypercellularity	Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.
HP:0033922	Renal arteriole leukocytic endoarterial hypercellularity	A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).
HP:0033923	Renal arteriole foam cell endoarterial hypercellularity	A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.
HP:0033924	Renal arteriole neutrophil endoarterial hypercellularity	A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.
HP:0033925	Renal arteriole lymphocyte endoarterial hypercellularity	A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.
HP:0033926	Renal arteriole intimal/medial multilamellation	Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.
HP:0033927	Arcuate artery endoarterial leukocyte hypercellularity	Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).
HP:0033928	Arcuate artery endoarterial foam cell hypercellularity	A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.
HP:0033929	Arcuate artery endoarterial neutrophil hypercellularity	A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.
HP:0033930	Arcuate artery endoarterial lymphocyte hypercellularity	A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.
HP:0033931	Arcuate artery intima/media necrosis	Death of tissue in the inner or middle layer of the arcuate artery of the kidney.
HP:0033932	Arcuate artery intima/media coagulative necrosis	A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.
HP:0033933	Arcuate artery intima/media liquefactive necrosis	A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.
HP:0033934	Arcuate vein intimal/medial storage material accumulation	Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.
HP:0033935	Cortical radial artery intima/media necrosis	Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.
HP:0033936	Cortical radial artery intima/media liquefactive necrosis	A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.
HP:0033937	Cortical radial artery intima/media coagulative necrosis	A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.
HP:0033938	Renal arteriole intima/media necrosis	Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.
HP:0033939	Renal arteriole intima/media liquefactive necrosis	A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.
HP:0033940	Renal arteriole intima/media coagulative necrosis	A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.
HP:0033941	Granulomatous arteriolitis of the arteriolar intima/media	A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.
HP:0033942	Arcuate vein medial/intimal necrosis	Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.
HP:0033943	Arcuate vein medial/intimal coagulative necrosis	A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.
HP:0033944	Arcuate vein medial/intimal liquefactive necrosis	A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.
HP:0033945	Arcuate intimal/medial granulomatous venulitis	A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.
HP:0033946	Arcuate vein intima/media crystal accumulation	Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.
HP:0033947	Renal arteriole intima/media crystal accumulation	Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.
HP:0033948	Arcuate artery intima/media arteriitis	Inflammation of the inner or middle layer of the arcuate arteries of the kidney.
HP:0033949	Arcuate artery intima/media granulomatous arteriitis	A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.
HP:0033950	Cortical radial artery intraluminal thrombi	Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.
HP:0033951	Cortical radial artery intraluminal organized thrombi	Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.
HP:0033952	Abnormal cortical radial artery endothelium morphology	Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.
HP:0033953	Cortical radial artery endotheliosis	Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.
HP:0033954	Cortical radial artery hypercellularity	Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.
HP:0033955	Cortical radial artery leukocyte hypercellularity	A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).
HP:0033956	Cortical radial artery lymphocyte hypercellularity	A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.
HP:0033957	Cortical radial artery neutrophil hypercellularity	A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.
HP:0033958	Cortical radial artery foam cell hypercellularity	A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.
HP:0033959	Cortical radial artery intima/media arteriosclerosis	Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.
HP:0033960	Cortical radial artery intimal mucoid edema	Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.
HP:0033961	Cortical radial artery intima/media multilamellation	Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.
HP:0033962	Cortical radial artery medial/intimal granulomatous arteriitis	A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.
HP:0033963	Abnormal interlobular vein intima/media morphology	Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.
HP:0033964	Interlobular intima/media venosclerosis	Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.
HP:0033965	Interlobular vein intimal mucoid edema	Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.
HP:0033966	Interlobular vein intima/media amyloidosis	Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy
HP:0033967	Interlobular vein intima/media venulitis	Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.
HP:0033968	Interlobular vein intima/media granulomatous venulitis	A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.
HP:0033969	Interlobular vein intima/media necrosis	Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.
HP:0033970	Interlobular vein intima/media liquefactive necrosis	A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.
HP:0033971	Interlobular vein intima/media coagulative necrosis	A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.
HP:0033972	Interlobular vein medial atrophy	Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.
HP:0033973	Interlobular vein medial hypertrophy	Increased thickness of middle layer of the interlobular veins of the kidney.
HP:0033974	Interlobular vein intima/media multilamellation	Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.
HP:0033975	Absent second fingernail	Absence of the fingernail of the index (second) finger.
HP:0033976	Volar fingernail	The presence of an extra nail on the palmar (volar, ventral) surface of the finger.
HP:0033977	Talar aplasia	Absent talus owing to a congenital defect.
HP:0033978	Reduced beta-hexosaminidase activity	Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.
HP:0033979	Excessive dynamic airway collapse	Excessive anterior displacement of the tracheal and/or bronchial membranous wall.
HP:0033980	Paroxysmal tonic upgaze	Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.
HP:0033981	Vertebral artery tortuosity	Abnormal tortuous (i.e., twisted) form of the vertebral arteries.
HP:0033982	Celiac artery dissection	A separation (dissection) of the layers of the celiac artery wall.
HP:0033983	Decreased circulating apolipoprotein C-II concentration	Reduced concentration of apolipoprotein C-II in the blood circulation.
HP:0033984	Increased urinary 8-oxo-7,8-dihydroguanosine level	An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.
HP:0033985	Elongated femoral neck	Increased length of the neck of the femur.
HP:0033986	Tortuous lymphatic vessels	The presence of an increased number of twists and turns of lymphatic vessels.
HP:0033987	Phosphaturic mesenchymal tumor	A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.
HP:0033988	Amygdala microinfarct	An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.
HP:0033989	Hippocampal microinfarct	An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.
HP:0033990	Cartilaginous tracheobronchomalacia	Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.
HP:0033991	Vasa previa	Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.
HP:0033992	Chronotropic incompetence	Inability of the heart to increase its rate commensurate with increased activity or demand.
HP:0033993	Viral encephalitis	An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.
HP:0033994	Dependency on parenteral nutrition	Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.
HP:0033995	Microvillus inclusions	The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.
HP:0033996	Microvillar PAS-positive secretory granules	The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.
HP:0033997	Perinuclear cardiomyocyte vacuolization	Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.
HP:0033998	Single-lobed right lung	A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.
HP:0033999	Bronchial hemorrhage	Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.
HP:0034000	Tracheal hemorrhage	Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.
HP:0034001	Anti-Complement factor H antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.
HP:0034002	Anti-phospholipase A2 receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.
HP:0034003	Broad medial eyebrow	Regional increase in the width (height) of the middle portion of the eyebrow.
HP:0034004	Parosmia	Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.
HP:0034005	Decreased dendritic spine number	An abnormal reduction in the amount of spines on a given dendrite.
HP:0034006	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio	A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.
HP:0034007	Posterior atrophy of corpus callosum	The presence of atrophy (wasting) of the posterior portion of the corpus callosum.
HP:0034008	Opto-chiasmatic atrophy	Wasting (atrophy) of the optic chiasm.
HP:0034009	Pelvic lipomatosis	Overgrowth of fat in the perivesical and perirectal area.
HP:0034010	Increased megakaryocyte colony forming unit count	Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.
HP:0034011	Reduced progressive sperm motility	A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increaed proportion of sperm that move in tight circles or in some other non-linear fashion.
HP:0034012	Palmoplantar hypohidrosis	Decreased sweating on the palms and soles.
HP:0034013	Curvilinear pericallosal lipoma	A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.
HP:0034014	Tubulonodular pericallosal lipoma	A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.
HP:0034015	Cavitating pulmonary nodule	Thick-walled abnormal gas-filled interstitial nodule within a lung.
HP:0034016	Anti-HLA antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).
HP:0034017	Anti-class I HLA antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).
HP:0034018	Anti-class II HLA antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).
HP:0034019	Anti-HLA-A antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).
HP:0034020	Anti-HLA-A IgG1 antibody positivity	The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).
HP:0034021	Anti-HLA-A IgG3 antibody positivity	The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).
HP:0034022	Anti-HLA-B antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).
HP:0034023	Anti-HLA-B IgG1 antibody positivity	The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).
HP:0034024	Anti-HLA-B IgG3 antibody positivity	The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).
HP:0034025	Abnormal circulating GABA concentration	Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.
HP:0034026	Elevated circulating sacchoropine concentration	An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.
HP:0034027	Abnormal urinary non-proteinogenic amino acid level	Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.
HP:0034028	Saccharopinuria	Presence of saccharopine in the urine.
HP:0034029	Hepatic foam cells	The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.
HP:0034030	Lip cyanosis	Bluish discoloration of the lips.
HP:0034031	Facial cyanosis	Bluish discoloration of one or more regions of the face.
HP:0034032	Central cyanosis	Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.
HP:0034033	Peripheral cyanosis	Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.
HP:0034034	Differential cyanosis	Differential degree of bluish discoloration between the upper and lower extremities.
HP:0034035	Pharyngeal exudate	Fluid exuded from the posterior wall of the pharynx.
HP:0034036	Pseudo-chilblains on toes	Inflammatory chilblain-like nodules on the feet and/or toes.
HP:0034037	Pseudo-chilblains on fingers	Inflammatory chilblain-like nodules on the hands and/or fingers.
HP:0034038	Silent hypoxemia	Abnormally low blood oxygen level without the presence of dyspnea.
HP:0034039	Ventricular couplet	Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.
HP:0034040	Bidirectional ventricular tachycardia	Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.
HP:0034041	Ventricular ectopy	Ventricular ectopics, also known as ventricular extrasystoles, premature ventricular contractions or complexes (PVC) and ventricular premature depolarisations (VPD) are beats arising from within the ventricles. When they occur in groupings such as bigeminy, trigeminy, couplets and triplets they are referred to as ventricular ectopy.
HP:0034042	Dorsal hirsutism	Abnormally increased hair growth in the lskin of the back.
HP:0034043	Increased fecal bile acid	Elevated amount of bile acids in the feces.
HP:0034044	Trident pelvis	Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.
HP:0034045	Angulated muscle fibers	Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.
HP:0034046	Mandibular osteolysis	Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.
HP:0034047	Rib osteolysis	Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.
HP:0034048	Decreased circulating chenodeoxycholic acid concentration	A reduced concentration of chenodeoxycholic acid in the blood circulation.
HP:0034049	Elevated urinary prostaglandin E2 level	An increased amount of prostaglandin E2 in the urine.
HP:0034050	Elevated urinary prostaglandin E2 metabolite level	An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.
HP:0034051	Hypoplastic anterior limbs of the internal capsule	Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.
HP:0034052	Impaired toe-walking ability	Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.
HP:0034053	Decreased acid ceramidase activity	
HP:0034054	Probst bundles	Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.
HP:0034055	Anti-side-chain cleavage enzyme antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).
HP:0034056	Increased fecal calprotectin level	An increased amount of calprotectin in the feces.
HP:0034057	Fetal anomaly	Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.
HP:0034058	Abnormal fetal morphology	Any structural anomaly of the fetus.
HP:0034059	Abnormal fetal physiology	Any functional anomaly of the fetus.
HP:0034060	Triggered by fava bean ingestion	Applies to a sign or symptom that is provoked or brought about by eating fava beans.
HP:0034061	Anti-steroid 17alpha-hydroxylase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.
HP:0034062	Anti-insulin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.
HP:0034063	Anti-islet antigen-2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.
HP:0034064	Anti-salivary protein antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.
HP:0034065	Anti-Zinc transporter 8 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.
HP:0034066	Anti-carbonic anhydrase VI antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.
HP:0034067	Tonofilament clumping	Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.
HP:0034068	Anti-plasminogen binding peptide antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.
HP:0034069	Anti-parotid secretory protein antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.
HP:0034070	Anti-enterocyte antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes.
HP:0034071	Anti-21-hydroxylase antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.
HP:0034072	Abnormal fetal long-bone echogenicity	Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.
HP:0034073	Reduced fetal long bone echogenicity	An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.
HP:0034074	Increased fetal long bone echogenicity	An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.
HP:0034075	Decreased circulating apolipoprotein B concentration	Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.
HP:0034076	Anti-ribosome Po antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.
HP:0034077	Anti-complement component C1q antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.
HP:0034078	Anti-centromere protein A antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A.
HP:0034079	Anti-centromere protein B antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B.
HP:0034080	Anti-U3 RNP antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.
HP:0034081	Anti-Th/To antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To.
HP:0034082	Anti-bicaudal D2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.
HP:0034083	Anti-nucleolus-organizing region antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.
HP:0034084	Anti-phosphatidyl ethanolamine antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine.
HP:0034085	Anti-PM-Scl100 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.
HP:0034086	Anti-PM-Scl75 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.
HP:0034087	Anti-U11/U12 RNP antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.
HP:0034088	Anti-Ku antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku.
HP:0034089	Anti-B23 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.
HP:0034090	Anti-RuvBL1/2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.
HP:0034091	Anti-platelet derived growth factor receptor	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.
HP:0034092	Anti-cyclic citrullinated peptide antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide.
HP:0034093	Anti-Ro52/TRIM21 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.
HP:0034094	Anti-angiotensin receptor type-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.
HP:0034095	Anti-endothelin-1 type A receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.
HP:0034096	Anti-phosphatidic acid antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.
HP:0034097	Anti-phosphatidyl choline antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline.
HP:0034098	Anti-phosphatidyl glycerol antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol.
HP:0034099	Anti-phosphatidyl inositol antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol.
HP:0034100	Anti-phosphatidyl serine antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine.
HP:0034101	Anti-annexin-V antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V.
HP:0034102	Anti-sphingolipid antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids.
HP:0034103	Anti-GM1 antibody positivity	Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury
HP:0034104	Anti-neutrophil elastase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase.
HP:0034105	Anti-transcription intermediary factor-1gamma antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.
HP:0034106	Anti-Su antigen/argonaute 2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.
HP:0034107	Anti-p53 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.
HP:0034108	Anti-Y-box protein-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.
HP:0034109	Anti-GW182 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.
HP:0034110	Anti-Gerbich phenotype 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.
HP:0034111	Anti-MIT3 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.
HP:0034112	Anti-GM1 IgG antibody positivity	The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.
HP:0034114	Anti-hexokinase-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1.
HP:0034115	Anti-Kelch like protein 12 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.
HP:0034116	Anti-thyrotropin receptor antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thyrotropin receptor antibody.
HP:0034117	Anti-angiotensin-converting enzyme 2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.
HP:0034118	Anti-GM1 IgM antibody positivity	The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.
HP:0034119	Anti-GD1a IgG antibody positivity	The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.
HP:0034120	Anti-GD1a IgM antibody positivity	The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.
HP:0034121	Anti-GD1a antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.
HP:0034122	Anti-GQ1b antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.
HP:0034123	Anti-GQ1b IgM antibody positivity	The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.
HP:0034124	Anti-GD1b antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.
HP:0034125	Anti-GD1b IgM antibody positivity	The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.
HP:0034126	Anti-GD1b IgG antibody positivity	The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.
HP:0034127	Anti-GQ1b IgG antibody positivity	The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.
HP:0034128	Anti-GT1a antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.
HP:0034129	Anti-GT1a IgM antibody positivity	The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.
HP:0034130	Anti-GT1a IgG antibody positivity	The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.
HP:0034131	Anti-GT1b antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.
HP:0034132	Anti-GM2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.
HP:0034133	Anti-GM3 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.
HP:0034134	Anti-GM4 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.
HP:0034135	Anti-neurofascin-155 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.
HP:0034136	Anti-neurofascin 186 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.
HP:0034137	Anti-contactin-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.
HP:0034138	Anti-contactin-associated protein 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.
HP:0034139	Anti-SUMO-activating enzyme antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE.
HP:0034140	Anti-SUMO-activating enzyme subunit 1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.
HP:0034141	Anti-SUMO-activating enzyme subunit 2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.
HP:0034142	Anti-nuclear matrix protein-2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.
HP:0034143	Anti-threonyl-tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.
HP:0034144	Anti-hY-RNA complex antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.
HP:0034145	Anti-alanyl-tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase.
HP:0034146	Anti-glycyl tRNA-synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase.
HP:0034147	Anti-aminoacyl-tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.
HP:0034148	Anti-isoleucyl tRNA-synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.
HP:0034149	Anti-phenylalanyl tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase.
HP:0034150	Anti-tyrosyl-tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase.
HP:0034151	Anti-asparaginyl-tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.
HP:0034152	Anti-histidyl tRNA synthetase antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase.
HP:0034153	Anti-cytosolic-5-nucleotidase-1A antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).
HP:0034154	Anti-Ki antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki.
HP:0034155	Anti-sp100 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.
HP:0034156	Anti-beta-2-Glycoprotein I IgG antibody positivity	Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.
HP:0034157	Anti-beta-2-Glycoprotein I IgM antibody positivity	Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.
HP:0034158	Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.
HP:0034159	Paget disease of bone	A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture.
HP:0034160	Abnormal circulating interleukin 9 concentration	Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.
HP:0034161	Reduced circulating interleukin 9 concentration	An abnormally decreased concentration of interleukin 9 in the blood circulation.
HP:0034162	Abnormal circulating interleukin 10 concentration	Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.
HP:0034163	Reduced circulating interleukin 10 concentration	An abnormally decreased concentration of interleukin 10 in the blood circulation.
HP:0034164	Abnormal circulating interleukin 21 concentration	Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation.
HP:0034165	Reduced circulating interleukin 21 concentration	An abnormally decreased concentration of interleukin 21 in the blood circulation.
HP:0034166	Increased circulating interleukin 21 concentration	An abnormally increased concentration of interleukin 21 in the blood circulation.
HP:0034167	Abnormal circulating interleukin 22 concentration	Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation.
HP:0034168	Reduced circulating interleukin 22 concentration	An abnormally decreased concentration of interleukin 22 in the blood circulation.
HP:0034169	Increased circulating interleukin 22 concentration	An abnormally increased concentration of interleukin 22 in the blood circulation.
HP:0034170	Abnormal circulating interleukin 23 concentration	Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation.
HP:0034171	Reduced circulating interleukin 23 concentration	An abnormally decreased concentration of interleukin 23 in the blood circulation.
HP:0034172	Increased circulating interleukin 23 concentration	An abnormally increased concentration of interleukin 23 in the blood circulation.
HP:0034173	Abnormal circulating interleukin 27 concentration	Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation.
HP:0034174	Reduced circulating interleukin 27 concentration	An abnormally decreased concentration of interleukin 27 in the blood circulation.
HP:0034175	Increased circulating interleukin 27 concentration	An abnormally increased concentration of interleukin 27 in the blood circulation.
HP:0034176	Abnormal circulating interleukin 17A concentration	Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation.
HP:0034177	Reduced circulating interleukin 17A concentration	An abnormally decreased concentration of interleukin 17A in the blood circulation.
HP:0034178	Increased circulating interleukin 17A concentration	An abnormally increased concentration of interleukin 17A in the blood circulation.
HP:0034179	Vertebral artery aneurysm	Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .
HP:0034180	Fusion of the caudate and putamen	Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.
HP:0034181	Aplasia/Hypoplasia of the liver	Absence or underdevelopment of the liver.
HP:0034182	Segmental hypoplasia of liver	Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.
HP:0034183	Spastic triplegia	Spastic weakness found in both lower extremities and one upper extremity.
HP:0034184	Increased insulin like growth factor binding protein acid labile subunit concentration	An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.
HP:0034185	Median pseudocleft lip	A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.
HP:0034186	Patella alta	Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.
HP:0034187	Clavicular pseudarthrosis	A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).
HP:0034188	Midline liver	Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.
HP:0034189	Anti-thyroid-stimulating hormone receptor antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.
HP:0034190	Abnormal fetal cardiovascular physiology	Abnormal functionality of the fetal cardiovascular system.
HP:0034191	Elevated fetal middle cerebral artery peak systolic velocity	Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.
HP:0034192	Pulmonary thromboembolism	Pulmonary embolism is caused by emboli, which have originated from venous thrombi, travelling to and occluding the arteries of the lung.
HP:0034193	Stratum basale cleavage	Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.
HP:0034194	Suprabasal cleavage	Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.
HP:0034195	Triggered by muscle relaxant	Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium.
HP:0034196	Ductus venosus agenesis	A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).
HP:0034197	Third trimester onset	This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond.
HP:0034198	Second trimester onset	This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive).
HP:0034199	Late first trimester onset	This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive).
HP:0034200	Abnormal CSF homovanillic acid concentration	Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.
HP:0034201	Increased CSF homovanillic acid concentration	Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.
HP:0034202	Abnormal iduronate sulfatase concentration	
HP:0034203	Decreased iduronate sulfatase level	An decreased level of iduronate-2-sulfatase activity in the blood circulation.
HP:0034204	Decreased circulating C1-esterase inhibitor concentration	Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.
HP:0034205	Iniencephaly	Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion.
HP:0034206	Abnormal fetal central nervous system morphology	An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0034207	Abnormal fetal gastrointestinal system morphology	An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0034208	Fetal intracranial hemorrhage	Abnormal bleeding inside the skull (cranium) of a fetus.
HP:0034209	Fetal subependymal hemorrhage	A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.
HP:0034210	Fetal intraventricular hemorrhage	A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.
HP:0034211	Fetal cerebral parenchymal hemorrhage	A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.
HP:0034212	Fetal extra-axial hemorrhage	A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).
HP:0034213	Fetal posterior fossa hemorrhage	A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.
HP:0034214	Fetal intraventricular hemorrhage without ventriculomegaly	A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.
HP:0034215	Fetal cerebellar hemisphere hemorrhage	A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.
HP:0034216	Fetal cerebellar vermis hemorrhage	A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.
HP:0034217	Sonographic non-visualized fetal bladder	Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.
HP:0034218	Fetal intraventricular hemorrhage with ventriculomegaly	A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.
HP:0034219	Fetal intraventricular hemorrhage with periventricular hemorrhage	A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.
HP:0034220	Temporal lobe megalencephaly	Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.
HP:0034221	Abnormal temporal lobe morphology	An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.
HP:0034222	Temporal lobe dysplasia	A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.
HP:0034223	Elevated umbilical artery pulsatility	Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.
HP:0034224	Absent end-diastolic umbilical artery flow	An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.
HP:0034225	Reversed end-diastolic umbilical artery flow	An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).
HP:0034226	Champagne cork sign	Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.
HP:0034227	Aortic isthmus hypoplasia	A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.
HP:0034228	Proximal aortic arch hypoplasia	A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.
HP:0034229	Distal aortic arch hypoplasia	A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.
HP:0034230	Inferior crossed fused renal ectopia	A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).
HP:0034231	Sigmoid kidney	A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.
HP:0034232	Unilateral lump kidney	A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.
HP:0034233	Disc kidney	A type of cross fused renal ectopia in which kidneys fuse along their medial borders.
HP:0034234	L-shaped kidney	A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.
HP:0034235	Superior crossed-fused renal ectopia	A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.
HP:0034236	Apnea of prematurity	Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation.
HP:0034237	Open neural tube defect	A type of neural tube defect that is not covered by skin.
HP:0034238	Closed neural tube defect	A type of neural tube defect that is covered by skin.
HP:0034239	Renal vein thrombosis	The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.
HP:0034240	Fetal neck mass	An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.
HP:0034241	Prenatal death	Death of a fetus in the uterus.
HP:0034242	Abnormal fetal genitourinary system morphology	An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0034243	Abnormal fetal pulmonary morphology	An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.
HP:0034244	Gastric pseudomass	At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.
HP:0034245	Fetal head anomaly	
HP:0034246	Fetal scalp mass	An abnormal growth (lump) of tissue that projects from the fetal scalp.
HP:0034247	Fetal lower urinary tract obstruction	An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.
HP:0034248	Increased fetal lens echogenicity	Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.
HP:0034249	Severe influenza infection	An unusually severe infection by an influenza virus.
HP:0034250	Fetal nuchal edema	Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.
HP:0034251	Abnormal corneal reflex	An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.
HP:0034252	Absent corneal reflex	Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.
HP:0034253	Eosinophil nuclear hypersegmentation	An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.
HP:0034254	Face of the giant panda sign	The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.
HP:0034255	Colovesical fistula	An aberrant, pathological communication between the colon and the bladder.
HP:0034256	Absent dermoepidermal hemidesmosomes	Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.
HP:0034257	C4 nephritic factor positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.
HP:0034258	Aplasia/Hypoplasia of the midbrain	Absence or underdevelopment of the midbrain (mesencephalon).
HP:0034259	Hypoplasia of the midbrain	A developmental defect characterized by underdevelopment of the mesencephalon.
HP:0034260	Aplastic zygomatic arch	Developmental defect characterized by the absence of the zygomatic arch.
HP:0034261	Aplasia/Hypoplasia of facial bones	A developmental defect characterized by absence or underdevelopment of one or more facial bone.
HP:0034262	Absent lanugo	Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.
HP:0034263	Abnormal vaginal bleeding	Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.
HP:0034264	Postcoital vaginal bleeding	Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.
HP:0034265	Mastalgia	Pain in the breast.
HP:0034266	Vaginal bleeding during sex	Bleeding during sex.
HP:0034267	Pelvic pain	Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.
HP:0034268	Abnormal vaginal physiology	Any anomaly of vagina function.
HP:0034269	Abnormal vaginal discharge	Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina
HP:0034270	Serrated incisors	Incisor teeth with irregular edges said to resemble a saw.
HP:0034271	Copper beaten skull	Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.
HP:0034272	Perifoveal hypoautofluorescence	Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.
HP:0034273	Premature sagging cheeks	Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.
HP:0034274	Gastrointestinal ulcer	A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.
HP:0034275	Verrucous epidermal nevus	A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.
HP:0034276	Elevated circulating thymidine concentration	Concentration of thymidine in the blood circulation above the normal range.
HP:0034277	Elevated circulating deoxyuridine concentration	Concentration of 2-deoxyuridine in the blood circulation is above the normal range.
HP:0034278	Multinucleated erythroblast	Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.
HP:0034279	2,8-dihydroxyadenine crystalluria	The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.
HP:0034280	Target cells	Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.
HP:0034281	Phalangeal cone-shaped epiphyses	Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
HP:0034282	Subcutaneous ossification	Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.
HP:0034283	Increased fecal protoporphyrin concentration	Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.
HP:0034284	Recurrent gingivitis	Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.
HP:0034285	Enteroviral encephalitis	Inflamation of the brain related to infection by an enterovirus.
HP:0034286	Pneumocystis carinii pneumonia	Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.
HP:0034287	Afibrinogenemia	Lack of detectable fibrinogen in the blood circulation.
HP:0034288	Elevated circulating reverse T3 concentration	Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.
HP:0034289	Elevated circulating rT3/T3 ratio	An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.
HP:0034290	Elevated circulating tiglylglycine concentration	An increased concentration of tiglylglycine in the blood circulation.
HP:0034291	Elevated circulating creatine concentration	An elevation above the normal range of creatine in the blood circulation.
HP:0034292	Reduced circulating creatine concentration	An reduction below the normal range of creatine in the blood circulation.
HP:0034293	Temporal lobe calcification	The presence of calcium deposition within the temporal lobe of the brain.
HP:0034294	Ductal bile plugs	Bile thrombi that form an obstruction (plug) in a dilated bile duct.
HP:0034295	Reduced cerebral white matter volume	An abnormally low volume of the white matter of the brain.
HP:0034296	Elevated urine 3,5,6-trichloro-2-pyridinol level	Detection of 3,5,6-trichloro-2-pyridinol in the urine.
HP:0034297	Elevated circulating tetracosanoic acid concentration	Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.
HP:0034298	Elevated circulating hexacosanoic acid concentration	Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.
HP:0034299	Sertoli cell-only phenotype	A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.
HP:0034300	Decreased acid sphingomyelinase activity	Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation.
HP:0034301	Congenital pouch colon	A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.
HP:0034302	Megalopapilla	A congenitally anomalous enlarged optic disk (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.
HP:0034303	Notched T wave	A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.
HP:0034304	Epsilon wave	An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.
HP:0034305	2:1 atrioventricular block	A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.
HP:0034306	Ventricular bigeminy	An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.
HP:0034307	Elevated left ventricular end-diastolic diameter	The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.
HP:0034308	Prolonged P wave	Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.
HP:0034309	Multiflagellar spermatozoa	Spermatozoa with multiple flagella attached to the sperm head.
HP:0034310	Post-vaccination yellow fever	Infection with the yellow fever virus of the live-attenuated vaccine.
HP:0034311	Hypoplastic optic chiasm	Developmental defect characterized by undergrowth of the optic chiasm.
HP:0034312	Nocturnal hypoxemia	Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.
HP:0034313	Hyperdynamic left ventricular ejection fraction	An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.
HP:0034314	Abnormal left ventricular ejection fraction	Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.
HP:0034315	Chronic cough	A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.
HP:0034316	Thinning of the substantia nigra pars compacta	Reduced volume of pars compacta of the substantia nigra.
HP:0034317	Unusual viral infection	
HP:0034318	Unusual virus reactivation	Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the rreactivation would not be observed in an immunocompetent host.
HP:0034319	CNS vasculitis with reactivation of varicella-zoster virus	A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries.
HP:0034320	Muscle fiber intracytoplasmic reducing inclusion bodies	Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.
HP:0034321	Elevated circulating guanidinoacetic acid concentration	An increased concentration of guanidinoacetic acid in the blood circulation.
HP:0034322	Reduced galactocerebrosidase activity	Diminished enzyme activity of galactocerebrosidase.
HP:0034323	Reduced circulating growth hormone concentration	Concentration of growth hormone in the blood circulation below normal limits.
HP:0034324	Brachiocephalic artery aneurysm	An abnormal widening (dilatation) of the brachiocephalic artery
HP:0034325	Common carotid artery aneurysm	An abnormal widening (dilatation) of the common carotid artery.
HP:0034326	Adenomyosis	Ectopic endometrial tissue within the uterine myometrium.
HP:0034327	Posterior corneal stroma punctiform multicolored opacities	Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.
HP:0034328	Fibro-obliterative bile-duct lesion	A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.
HP:0034329	Dysplastic megalencephaly	A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.
HP:0034330	Regional right ventricular hypokinesis	Decreased range of right ventricular motion in a portion of the right ventricle of the heart.
HP:0034331	McConnell sign	Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.
HP:0034332	Cognitive regression	Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.
HP:0034333	Increased circulating hypoxanthine concentration	Elevated concentration of hypoxanthine in the blood circulation.
HP:0034335	Inheritance modifier	The terms in this hierarchy can be used to specificy the context in which inheritance of a disease is typically observed.
HP:0034336	Splenic infarction	Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion.
HP:0034337	Claw hand deformity	An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.
HP:0034338	Imprinted	Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated.
HP:0034339	Pseudoautosomal inheritance	A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes.
HP:0034340	Pseudoautosomal dominant inheritance	A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype.
HP:0034341	Pseudoautosomal recessive inheritance	A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype.
HP:0034342	Trapezius muscle aplasia	A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).
HP:0034343	Requires heterozygosity	A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females.
HP:0034344	Female-limited expression	Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex.
HP:0034345	Mendelian inheritance	A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.
HP:0034346	Nesidioblastosis	An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.
HP:0034347	Greater auricular nerve thickening	Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.
HP:0034348	Subpulmonary stenosis	A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve.
HP:0034349	Supravalvar pulmonary stenosis	A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.
HP:0034350	Valvular pulmonary stenosis	A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.
HP:0034351	Neuromyotonia	Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness.
HP:0034352	Bile duct polyp	An elevated growth from the the mucosa of the bile duct.
HP:0034353	Appendicular spasticity	A type of spasticity that affects one or more limbs (arms or legs).
HP:0034354	Trichoschisis	Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.
HP:0034355	White cerebellum sign	On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.
HP:0034356	Impaired renal tubular reabsorption of low molecular weight protein	Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.
HP:0034357	Impaired renal tubular reabsorption of glucose	Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.
HP:0034358	Impaired renal tubular reabsorption of sodium	Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.
HP:0034359	Impaired renal tubular reabsorption of phosphate	Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption.
HP:0034360	Action myoclonus	A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.
HP:0034361	Redundant umbilical skin	Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.
HP:0034362	Dull foveal reflex	Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
HP:0034363	Corneal pterygium	Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.
HP:0034364	Fibrofatty replacement of right ventricular myocardium	Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.
HP:0034365	Elevated circulating alpha-aminoadipic semialdehyde concentration	Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.
HP:0034366	Fracture blister	Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.
HP:0034367	Decreased beta-mannosidase activity	Abnormally reduced activity of the enzyme beta-mannosidase, which is a lysosomal enzyme that catabolized oligosaccharides.
HP:0034368	Urolithiasis	Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.
HP:0034369	Decreased level of coenzyme Q10 in skeletal muscle	Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.
HP:0034370	Abnormal muscle tissue metabolite concentration	
HP:0034371	Reduced circulating prekallikrein concentration	Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.
HP:0034372	Internal tibial torsion	
HP:0034373	External tibial torsion	External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .
HP:0034374	Trident acetabulum	Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.
HP:0034375	Spherophakia	Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.
HP:0034376	Atrioventricular valve regurgitation	Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.
HP:0034377	Single atrioventricular valve regurgitation	Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.
HP:0034378	Urethrovesical occlusion	Blockage of the flow of urine from the bladder into the urethra.
HP:0034379	Vascular granular osmiophilic material deposition	Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide.
HP:0034380	Juvenile type testicular granulosa cell tumor	Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia.
HP:0034381	Central nervous system axonal spheroid	Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.
HP:0034382	Disease remission	A decrease in or disappearance of signs and symptoms typically associated with a disease course.
HP:0034383	Elevated circulating biliverdin concentration	Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.
HP:0034384	Elevated circulating insulin:C-peptide ratio	Increased ratio of insulin to C-peptide in the blood circulation.
HP:0034385	Abnormal left ventricular endsystolic diameter	A deviation from the normal range of the left ventricular endsystolic diameter.
HP:0034386	Reduced left ventricular endsystolic diameter	A lower than normal left ventricular endsystolic diameter.
HP:0034387	Bacterial encephalitis	Encephalitis caused by bacterial infection.
HP:0034388	Hilar lymph node enlargement	Hilar lymphadenopathy is swelling or enlargement of lymph nodes localised in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).
HP:0034389	Pulmonary vein varix	Pulmonary vein varix (PVV), refers to a localised dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.
HP:0034390	Decreased CSF glycine concentration	Abnormally decreased levels of glycine in cerebrospinal fluid.
HP:0034391	Elbow contracture	A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
HP:0034392	Joint contracture	A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
HP:0034393	Elbow extension contracture	An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.
HP:0034394	Forearm supination contracture	A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.
HP:0034395	Forearm pronation contracture	A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.
HP:0034396	Hippocampal malrotation	Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.
HP:0034397	Claw toe deformity	Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.
HP:0034398	Toe deformity	Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.
HP:0034399	Prolonged central motor conduction time	Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.
HP:0034400	Circumferential skin creases on extremities	Ringed creases of the skin of the extremities related to folding of excess skin.
HP:0034401	Atypical teratoid/rhabdoid tumor	An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.
HP:0034402	Rhabdoid tumor of the kidney	A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.
HP:0034403	Subcutaneous panniculitis-like T-cell lymphoma	A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules.
HP:0034404	Fungal hyphae in sputum	Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.
HP:0034405	Enlarged tectum	Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.
HP:0034406	Elevated CSF angiotensin-converting enzyme concentration	
HP:0034407	Reduced circulating 3-ketoacyl-CoA thiolase concentration	Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.
HP:0034408	Solitary angiokeratoma	A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.
HP:0034409	Fordyce angiokeratoma	A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.
HP:0034410	Angiokeratoma circumscriptum naeviforme	A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.
HP:0034411	Angiokeratoma of Mibelli	A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter.
HP:0034412	Laryngeal mass	A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.
HP:0034413	Palate mass	A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.
HP:0034414	Thick oral frenulum	Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.
HP:0034415	Tooth avulsion	A type of dental trauma characterized by total dislocation of the tooth from its socket.
HP:0034416	Torn oral frenulum	Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.
HP:0034417	Intraoral laceration	A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.
HP:0034418	Erythematous oral mucosa	An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.
HP:0034419	Mitral chordae tendinae rupture	Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.
HP:0034420	History of cardiovascular procedure	Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient.
HP:0034421	Ejection click	A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.
HP:0034422	Cryofibrinogenemia	Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.
HP:0034423	triggered by allergens	Applies to a sign or symptom that is provoked or brought about by exposure to allergens.
HP:0034424	Clicking tinnitus	A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.
HP:0034425	Reduced hair sulfur content	Abnormally low amount of sulfur in hair.
HP:0034426	Chromhidrosis	Secretion of colored sweat.
HP:0034427	Purulent eye discharge	Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together.
HP:0034428	Megaloblepharon	Disproportionately large eyelids
HP:0034429	Bacteria in cerebrospinal fluid	Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.
HP:0034430	Abnormal joint physiology	
HP:0034431	Joint crepitus	A popping, clicking or crackling sound that accompaniees movement of a joint.
HP:0034432	Intertriginous distribution	Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff.
HP:0034433	Distributed along skin tension lines	Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage.
HP:0034434	Abnormal communication	Any abnormal behavior related to communication.
HP:0034435	Abnormal eye contact	Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.
HP:0034436	Gaze avoidance	A deliberate avoidance of eye contact.
HP:0034437	Excessive eye contact	Tendency to maintain sustained eye contact for an inappropriately long period of time.
HP:0034438	Balanitis	Inflammation of glans penis
HP:0034439	Instep location	Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep).
HP:0034440	Ameliorated by ultraviolet light exposure	Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy).
HP:0034441	Decreased circulating aspartic acid concentration	An reduced concentration of aspartic acid in the blood circulation.
HP:0034442	Abnormal circulating erythropoietin concentration	Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.
HP:0034443	Reduced circulating erythropoietin concentration	Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.
HP:0034444	Abnormal gamma-glutamyltransferase level	Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
HP:0034445	Reduced gamma-glutamyltransferase level	Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
HP:0034446	Elevated circulating histamine concentration	Increased concentration of histamine in the blood circulation.
HP:0034447	Increased circulating interleukin 18 concentration	An increased concentration of interleukin-18 in the blood circulation.
HP:0034448	Abnormal phytanic acid:pristanic acid ratio	Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.
HP:0034449	Increased phytanic acid:pristanic acid ratio	An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.
HP:0034450	Decreased phytanic acid:pristanic acid ratio	A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.
HP:0034451	Rectovesical fistula	An aberrant, pathological communication between the rectum and the bladder.
HP:0034452	Rectoureteral fistula	An abnormal connection (fistula) between the rectum and the ureter.
HP:0034453	Hypoplastic umbilicus	Underdevelopment of the umbilicus.
HP:0034454	Arachnoid granulation	Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.
HP:0034455	Increased CSF taurine concentration	Increased concentration of taurine in the cerebrospinal fluid (CSF).
HP:0034456	Elevated circulating glutathione concentration	An abnormally increased level of glutathione in the blood circulation.
HP:0034457	Hawkinsinuria	Increased level of hawkinsin in the urine. Hawkinsin is a cysteine derivative that is cysteine in which the thiol group is substituted by a [2-(carboxymethyl)-2,5-dihydroxycyclohex-3-en-1-yl]sulfanediyl group.
HP:0034458	Elevated urinary phenylpyruvic acid level	An abnormally increased amount of phenylpyruvic acid in the urine.
HP:0034459	Ameliorated by lumbar puncture	Applies to a sign or symptom that is improved or made more bearable by lumbar puncture.
HP:0034460	Increased CSF uracil concentration	An increased level of uracil in the cerebrospinal fluid.
HP:0034461	Elevated urine kynurenine level	An abnormally increased amount of kynurenine in the urine.
HP:0034462	Increased CSF L-alloisoleucine concentration	An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).
HP:0034463	Hydroxylysinemia	An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.
HP:0034464	Homocitrullinuria	An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.
HP:0034465	2-hydroxyadipic aciduria	An increase in the level of 2-hydroxyadipic acid in the urine.
HP:0034466	Homoargininuria	An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.
HP:0034467	Increased urinary cysteine level	An increased concentration of cysteine in the urine.
HP:0034468	Gastric xanthoma	Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.
HP:0034469	Decreased stool elastase level	Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.
HP:0034470	Elevated stool chloride content	Elevated amount of chloride in the stool.
HP:0034471	Increased fecal coproporphyrin III:coproporphyrin I ratio	Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.
HP:0034472	Increased fecal harderoporphyrin	Abnormally high concentration of harderoporphyrin in feces.
HP:0034473	Increased fecal heptacarboxylporphyrin	Abnormally high concentration of heptacarboxylporphyrin in feces.
HP:0034474	Increased fecal pentacarboxylporphyrin	Abnormally high concentration of pentacarboxylporphyrin in feces.
HP:0034475	Increased fecal isocoproporphyrin	Abnormally high concentration of isocoproporphyrin in feces.
HP:0034476	Positive fecal Clostridium botulinum test	Identification of Clostridium botulinum toxin in the feces.
HP:0034477	Perihepatic adhesions	Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance.
HP:0034478	Dilated vas deferens	Abnormal increase in diameter (expansion) of the vas deferens.
HP:0034479	Enlarged epididymis	Abnormal increase in the size of the epididymis.
HP:0034480	Absent epididymidis	
HP:0034481	Atypical gestures	Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.
HP:0034482	Abnormal spinal cord physiology	
HP:0034483	Bone marrow vacuolated lymphocytes	The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.
HP:0034484	Spinal cord calcifications	The presence of calcium deposition in the spinal cord.
HP:0034485	Neuroepithelial cyst	A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.
HP:0034486	Reduced circulating interleukin 7 concentration	A diminished concentration of interleukin-7 in the circulation.
HP:0034487	Increased circulating interleukin 12 concentration	An increased concentration of interleukin-12 in the blood circulation.
HP:0034488	Increased circulating interleukin 13 concentration	An increased concentration of interleukin-13 in the blood circulation.
HP:0034489	Increased circulating interleukin 2 concentration	An increased concentration of interleukin-2 in the blood circulation.
HP:0034490	Increased circulating interleukin 4 concentration	An increased concentration of interleukin-4 in the blood circulation.
HP:0034491	Increased circulating interleukin 5 concentration	An increased concentration of interleukin-5 in the blood circulation.
HP:0034492	Salpingitis	An inflammation of the fallopian tube.
HP:0034493	Tubo-ovarian abscess	A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.
HP:0034494	Opacified paranasal sinuses	White appearance (radio-opaqueness) of a paranasal sinus on radiography.
HP:0034495	Elevated brain glutamine level by MRS	An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0034496	Abnormal brain glutamine level by MRS	A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0034497	Increased urinary hexanoic acid level	An increased amount of hexanoic acid in the urine.
HP:0034498	Hepatic focal nodular hyperplasia	Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.
HP:0034499	Increased bone marrow iron	An increased amount of iron in the bone marrow.
HP:0034500	Glenoid fracture	A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.
HP:0034501	Widened mediastinum	Abnormal lincrease in the width of the mediastinum, often defined as being greater than 6 to 8cm.
HP:0034502	Narrow mediastinum	Abnormal decrease in the width of the mediastinum.
HP:0034503	Ovarian torsion	Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.
HP:0034504	Septate gallbladder	Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.
HP:0034505	Gallbladder wall thickening	Abnormal increased in the thickness of the wall of the gallbladder.
HP:0034506	Gallbladder enlargement	Abnormal increased in the thickness of the size of the gallbladder.
HP:0034507	Gallbladder mass	An abnormal lesion or swelling seen on gallbladder imaging.
HP:0034508	Fingerprint bodies	Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints.
HP:0034509	Spheroid bodies	An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber.
HP:0034510	Abnormal muscle tissue enzyme activity	Any deviation from the normal activity of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen.
HP:0034511	Reduced muscle aconitase activity	Diminished activity of the enzyne aconitase in muscle tissue.
HP:0034512	Transitional-cell carcinoma of the ureter	A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain.
HP:0034513	Increased circulating Interferon-alpha concentration	An elevation in the concentration of interferon alpha measured in the blood circulation.
HP:0034514	Liver hamartoma	A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.
HP:0034515	Ameloblastoma	Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ.
HP:0034516	Ameliorated by ketogenic diet	Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet.
HP:0034517	Pretibial hyperpigmentation	Darkening of the area of skin that overlies the shin.
HP:0034518	Gingival fragility	Gums that are easily damaged.
HP:0034519	Muscle fiber fuchsinophilic inclusion bodies	The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin.
HP:0034520	Esophageal myenteric plexus degeneration	Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.
HP:0034521	Periorificial hyperkeratosis	Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.
HP:0034522	Eosinophilic lymph node infiltration	Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).
HP:0034523	Blood parasite	Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine.
HP:0034524	Bloodstream trypomastigotes	Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear.
HP:0034525	Adamantinoma	A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns.
HP:0034526	Abnormal enzyme activity in muscle tissue	Deviation from the normal activity of an enzyme in muscle tissue.
HP:0034527	Reduced muscle phosphoglycerate kinase activity	Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyses one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate.
HP:0034528	Reduced fibroblast type III procollagen synthesis	Diminished production of type III procollagen by cultured skin fibroblasts.
HP:0034529	Reduced muscle myoadenylate deaminase activity	Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia.
HP:0034530	Bent long bone	A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the metaphysis (shaft) of the bone.
HP:0034531	Tracheal rupture	A break or tear in the trachea.
HP:0034532	Increased myocardial glycogen content	Elevated amount of glycogen in the myocardium.
HP:0034533	Triggered by monoamine oxidase inhibitor	Applies to a sign or symptom that is provoked or brought about by exposure to a monoamine oxidase inhibitor.
HP:0034534	Triggered by serotonin reuptake inhibitor	Applies to a sign or symptom that is provoked or brought about by exposure to a serotonin reuptake inhibitor.
HP:0034535	Ameliorated by acetazolamide	Applies to a sign or symptom that is improved or made more bearable by treatment with acetazolamide.
HP:0034536	Ameliorated by exposure to medication	Applies to a sign or symptom that is improved or made more bearable by treatment with a medication. Terms in this subhierarchy are intended to be used for cases in which the fact that a manifestation of a disease responds to a specific treatment can be used in the differential diagnosis.
HP:0034537	Ameliorated by vitamin B12	Applies to a sign or symptom that is improved or made more bearable by treatment with vitamin B12.
HP:0034538	Ameliorated by thiamine	Applies to a sign or symptom that is improved or made more bearable by treatment with thiamine.
HP:0034539	Ameliorated by dantrolene	Applies to a sign or symptom that is improved or made more bearable by treatment with dantrolene.
HP:0034540	Ameliorated by biotin	Applies to a sign or symptom that is improved or made more bearable by treatment with biotin.
HP:0034541	Reduced bone-marrow megakaryocyte size	Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.
HP:0034542	Hairshafts with longitudinal grooves	Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.
HP:0034543	Mycobacterium bacteremia	Presence of viable mycobacteria in the blood.
HP:0034544	Decreased delta-aminolevulinate dehydratase activity	Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.
HP:0034545	Elevated circulating pancreatic secretory trypsin inhibitor activity	Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.
HP:0034546	Presence of uterus in 46,XY individual	A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.
HP:0034547	Intraluminal meconium calcification	Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.
HP:0034548	Portal vein hypoplasia	A developmental defect characterized by underdevelopment of hte portal vein.
HP:0034549	Adrenal leiomyoma	Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries
HP:0034550	Small intestinal lymphoplasmacytic infiltrate	Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.
HP:0034551	Triggered by neuroleptic medication	Applies to a sign or symptom that is provoked or brought about by exposure to neuroleptic (also known as antipsychotic) medication.
HP:0034552	Abnormal peroxisomal morphology	Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.
HP:0034553	Absence of peroxisomes	Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.
HP:0034554	Paucity of peroxisomes	Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.
HP:0034555	Reduced sulfide:quinone oxidoreductase activity	Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle.
HP:0034556	Deficit at segmental level	Refers to distribution of neurological deficits that corresponds to a deficit of a specific spinal segment and all segments below it.
HP:0034557	Rhabdoid tumor	Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues.
HP:0034558	Rhabdoid tumor of the ovary	A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.
HP:0034559	Cardiac rhabdoid tumor	A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.
HP:0034560	Malignant rhabdoid tumor of the bladder	A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.
HP:0034561	Malignant rhabdoid tumor of liver	A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.
HP:0034562	Malignant rhabdoid tumor of muscle	A malginant rhabdoid tumor (MRT) originating in muscle tissue.
HP:0034563	Neck teratoma	A teratoma located in the neck.
HP:0034564	Kidney teratoma	A teratoma located in a kidney.
HP:0034565	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis.
HP:0034566	Aplasia of posterior communicating artery	A developmental anomnaly characterized by the lack of development of the posterior communicating artery.
HP:0034567	Optic pit	A developmental anomaloy characterized by congenital excavation of the optic nerve head.
HP:0034568	Ameliorated by naloxone	Applies to a sign or symptom that is improved or made more bearable by treatment with naloxone, an opioid antagonist.
HP:0034569	Ameliorated by pyridoxal phosphate	Applies to a sign or symptom that is improved or made more bearable by ingestion of pyridoxal phosphate (activated vitamin B6).
HP:0034570	Thickened intrahepatic portal venules	Increased width of the vascular wall of portal venules within the liver.
HP:0034571	Ovarian fibrosis	Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.
HP:0034572	Pigment incontinence	A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.
HP:0034573	Abnormal epidermal protein expression	
HP:0034574	Reduced epidermal keratin 10 protein expression	Lower than normal amount of keratin 10 in the epidermis.
HP:0034575	Reduced epidermal collagen IV protein expression	
HP:0034576	Reduced epidermal bullous pemphigoid antigen 1 protein expression	Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.
HP:0034577	Reduced epidermal collagen VII protein expression	
HP:0034578	Reduced epidermal collagen XVII protein expression	
HP:0034579	Reduced epidermal integrin alpha6beta4 protein expression	
HP:0034580	Reduced epidermal plectin protein expression	
HP:0034581	Bloodstream Trypanosoma cruzi	Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease.
HP:0034582	Abnormal lymph node cell composition	A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.
HP:0034583	Lipid-laden lymph node macrophages	Lymph node with increased numbers of macrophages heavily laden with lipids.
HP:0034584	Abnormal pancreatic acinus morphology	Structural anomal of pancreatic acinus.
HP:0034585	Cochlear nerve hypoplasia	A developmental defect characterized by underdevelopment of the cochlear nerve.
HP:0034586	Glutathionuria	Increased level of glutathione in the urine.
HP:0034587	Nevus psiloliparus	Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.
HP:0034588	Crypt hyperplasia	Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodelling.
HP:0034589	Increased circulating dehydroepiandrosterone-sulfate concentration	Increased circulating concentration of dehydroepiandrosterone-sulfate, a precursor of testosterone and estrogen.
HP:0034590	Abnormal circulating thyroxine-binding globulin concentration	Any deviation from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.
HP:0034591	Decreased circulating thyroxine-binding globulin concentration	A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.
HP:0034592	Elevated circulating beta-aminoisobutyric acid concentration	An increased concentration of beta-aminoisobutyric acid in the blood circulation.
HP:0034593	Elevated circulating dihydrouracil concentration	An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.
HP:0034594	Elevated circulating dihydrothymine concentration	An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.
HP:0034595	Elevated circulating N-carbamyl-beta-alanine concentration	An increased concentrationof N-carbamyl-beta-alanine in the blood circulation.
HP:0034596	Elevated ciculating 5-hydroxymethyluracil concentration	An increased concentration of 5-hydroxymethyluracil in the blood circulation.
HP:0034597	Decreased CSF creatinine concentration	Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.
HP:0034598	Elevated urinary creatine level	An increased amount of creatine in the urine.
HP:0034599	Decreased circulating biotin concentration	Concentration of biotin in the blood circulation below the lower limit of normal.
HP:0034600	Elevated circulating thrombopoietin concentration	Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.
HP:0034601	Decreased circulating C1q concentration	Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.
HP:0034602	Decreased circulating apolipoprotein A-II concentration	Concentration of apolipoprotein A-II below the lower limit of normal.
HP:0034603	Elevated circulating CA19-9 concentration	Concentration of CA19-9 above the upper limit of normal.
HP:0034604	Elevated circulating DOPA concentration	Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.
HP:0034605	Elevated CSF DOPA concentration	Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.
HP:0034606	Elevated circulating porphyrin concentration	Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.
HP:0034607	Decreased circulating 17-hydroxyprogesterone concentration	Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.
HP:0034608	Decreased circulating transcobalamin II concentration	Concentration of transcobalamin II in the blood circulation below the lower limit of normal.
HP:0034609	Polychromasia	Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.
HP:0034610	Decreased circulating myo-inositol concentration	Concentration of myo-inositol in the blood circulation below the lower limit of normal.
HP:0034611	Elevated circulating arabitol concentration	Concentration of arabitol in the blood circulation above the upper limit of normal.
HP:0034612	Elevated urine arabitol level	Amount of arabitol in the urine above the upper limit of normal.
HP:0034613	Elevated urine erythritol level	Amount of erythritol in the urine above the upper limit of normal.
HP:0034614	Elevated circulating erythritol concentration	Concentration of erythritol in the blood circulation above the upper limit of normal.
HP:0034615	Reduced circulating matrix metalloproteinase 2 concentration	Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.
HP:0034616	Abnormal circulating coenzyme concentration	Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.
HP:0034617	Elevated circulating S-adenosyl methionine concentration	Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.
HP:0034618	Abnormal circulating membrane cofactor protein concentration	Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.
HP:0034619	Decreased circulating membrane cofactor protein concentration	Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.
HP:0034620	Elevated circulating membrane cofactor protein concentration	Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.
HP:0034621	Hepatic xanthomatosis	Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034622	Adrenal xanthomatosis	Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034623	Splenic xanthomatosis	Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034624	Spinal cord xanthomatosis	Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034625	Brain xanthomatosis	Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034626	Pulmonary xanthomatosis	Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034627	Bone marrow xanthomatosis	Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034628	Lymph node xanthomatosis	Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.
HP:0034629	Xanthoma of bone	Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.
HP:0034630	Ameliorated by folinic acid	Applies to a sign or symptom that is improved or made more bearable by treatment with folinic acid.
HP:0034631	Triggered by succinylcholine anesthetic	Applies to a sign or symptom that is provoked or brought about by exposure to a succinylcholine anesthetic such as suxamethonium.
HP:0034632	Exogenous androgen exposure	History of having been treated with an exogenous androgen medication.
HP:0034633	Reduced muscle enolase activity	Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.
HP:0034634	Dopamine antagonist exposure	History of having been treated with a dopamine antagonist including metaclopramide, phenothiazine; haloperidol, chlorpromazine, promethazine, prochlorperazine, ziprasidone, and quetiapine.
HP:0034635	Muscle fiber granulofilamentous inclusion bodies	The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.
HP:0034636	Bone marrow myeloid vacuolization	Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.
HP:0034637	Pulmonary cylindroma	A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.
HP:0034638	Colonic fibrinopurulent exudate	Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.
HP:0034639	Bloodstream microfilaria	Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases.
HP:0034640	Skin infectious agent	The presence of an infectious agent in the skin.
HP:0034641	Dermal microfilaria	Presence of filariae in the skin.
HP:0034642	Dermal papillary IgA deposition	Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.
HP:0034643	Dermal immune complex deposition	Accumulation of antigen-bound antibody in the skin.
HP:0034644	Abnormal liver metabolite concentration	The concentration of a metabolite in the liver is above or below the limits of normal.
HP:0034645	Hepatic polyglucosan accumulation	Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.
HP:0034646	Urinary bladder neurofibroma	A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.
HP:0034647	Synovial granuloma	An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).
HP:0034648	Elevated urine fumaric acid level	Amount of fumaric acid in the urine above normal limits.
HP:0034649	Elevated urine N-acetylaspartic acid level	Amoutn of N-acetylaspartate high in the urine above upper limit of normal.
HP:0034650	Elevated urine suberylglycine level	Level of suberylglycine in urine above upper limit of normal.
HP:0034651	Elevated urine phenylpropionylglycine level	Level of phenylpropionylglycine in urine above upper limit of normal.
HP:0034652	Elevated urine octenedioic acid level	Amount of octenedioic acid in the urine above the upper limit of normal.
HP:0034653	Monocarboxylic aciduria	Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.
HP:0034654	Elevated urine octanoic acid level	Amount of octanoic acid in the urine above the upper limit of normal.
HP:0034655	Elevated urine glutaconic acid level	Amount of glutaconic acid in the urine above the upper limit of normal.
HP:0034656	Elevated urine 3-hydroxyglutaric level	Amount of 3-hydroxyglutaric acid in urine above the upper limit of normal.
HP:0034657	Elevated urine malonic acid level	Amount of malonic acid in urine above upper limit of normal.
HP:0034658	Elevated urine propionylglycine level	Amount of propionylglycine in the urine above the upper limit of normal.
HP:0034659	Elevated urine tiglylglycine level	Amount of tiglylglycine in the urine above upper limit of normal.
HP:0034660	Elevated urine 2-methylacetoacetic acid level	Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.
HP:0034661	Elevated urine 3-hydroxypropionic acid level	Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.
HP:0034662	Elevated urine 2-methylcitric acid level	Amount of 2-methylcitric acid in the urine above the upper limit of normal.
HP:0034663	Elevated urine 4-hydroxyisovaleric acid level	Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.
HP:0034664	Elevated urine 2-hydroxy-3-methylvaleric acid level	Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.
HP:0034665	Shoulder contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0034666	Shoulder extension contracture	Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).
HP:0034667	Thumb extension contracture	
HP:0034668	Tongue myxoma	A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.
HP:0034669	Abnormal knee morphology	A structural abnormality of the knee joint or surrounding structures.
HP:0034670	Abnormal knee physiology	A functional anomaly of the knee joint.
HP:0034671	Knee contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0034672	Knee extension contracture	A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.
HP:0034673	Abnormal ankle morphology	A structural anomaly of the ankle.
HP:0034674	Abnormal ankle physiology	A functional anomaly of the ankle.
HP:0034675	Toe joint contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0034676	Extension contracture of toe	A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.
HP:0034677	Ankle contracture	
HP:0034678	Forefoot pronation contracture	
HP:0034679	Forefoot supination contracture	
HP:0034680	Forefoot adduction contracture	
HP:0034681	Finger joint contracture	Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
HP:0034682	Extension contracture of finger	A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.
HP:0034683	Reduced muscle telethonin level	Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.
HP:0034684	Abnormal enzyme concentration or activity	Concentration or activity of an enzyme is above or below the limits of normal.
HP:0034685	Abnormal liver enzyme activity or concentration	Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.
HP:0034686	Reduced hepatic urocanase activity	Activity of urocanase in the liver below the lower limit of normal.
HP:0034687	Impaired cerebroside sulfate hydrolysis	Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate.
HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity	Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.
HP:0034689	Reduced sterol 27-hydroxylase activity	Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.
HP:0034690	Reduced short-chain acyl-CoA dehydrogenase activity	Diminished activbity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyses the first step in mitochondrial beta-oxidation of fatty acids.
HP:0034691	Reduced 3-phosphoglycerate dehydrogenase activity	Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.
HP:0034692	Elongated mitochondria	Increase in length of mitochondria.
HP:0040004	Abnormality of corneal shape	
HP:0040006	Mortality/Aging	
HP:0040007	Absent pigmentation of chest	Lack of skin pigmentation (coloring) of the chest.
HP:0040008	Aplasia of facial bones	
HP:0040009	Hyperparakeratosis	Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.
HP:0040010	Small posterior fossa	
HP:0040011	Flat posterior fossa	
HP:0040012	Chromosome breakage	Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
HP:0040013	Decreased mitochondrial number	
HP:0040014	Increased mitochondrial number	
HP:0040015	Increased activity of mitochondrial respiratory chain	
HP:0040016	Prominent coccyx	
HP:0040017	Protruding coccyx	
HP:0040018	Clinodactyly of hallux	
HP:0040019	Finger clinodactyly	
HP:0040020	Radial deviation of the 5th finger	
HP:0040022	Clinodactyly of the 2nd finger	
HP:0040023	Clinodactyly of the thumb	
HP:0040024	Clinodactyly of the 3rd finger	
HP:0040025	Clinodactyly of the 4th finger	
HP:0040030	Chorioretinal hypopigmentation	
HP:0040031	Chorioretinal hyperpigmentation	
HP:0040032	Hypoplasia of the upper eyelids	
HP:0040033	Aplasia/Hypoplasia of the fifth metatarsal bone	
HP:0040034	Abnormality of the second metatarsal bone	
HP:0040035	Abnormality of the fourth metatarsal bone	
HP:0040036	Onychogryposis of fingernail	Thickened fingernails.
HP:0040039	Onycholysis of fingernails	
HP:0040040	Toenail onycholysis	Painless and spontaneous separation of a toenail from the nail bed.
HP:0040042	Aplasia of the eccrine sweat glands	
HP:0040043	Hypoplasia of the eccrine sweat glands	
HP:0040044	Hypoplasia of the diaphragm	
HP:0040045	Abnormal hemidiaphragm morphology	
HP:0040046	Abnormal left hemidiaphragm morphology	
HP:0040047	Abnormal right hemidiaphragm morphology	
HP:0040049	Macular edema	Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.
HP:0040050	Sparse upper eyelashes	
HP:0040051	Abnormality of upper eyelashes	
HP:0040052	Abnormality of lower eyelashes	
HP:0040053	Long lower eyelashes	
HP:0040054	Short upper eyelashes	
HP:0040055	Short lower eyelashes	
HP:0040056	Absent upper eyelashes	
HP:0040057	Abnormality of nasal hair	
HP:0040059	Calcification of ribs	
HP:0040061	Osteosclerosis of the radius	
HP:0040062	Slender radius	
HP:0040063	Decreased adipose tissue	
HP:0040064	Abnormality of limbs	
HP:0040068	Abnormality of limb bone	
HP:0040069	Abnormal lower limb bone morphology	
HP:0040070	Abnormal upper limb bone morphology	
HP:0040071	Abnormal morphology of ulna	Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.
HP:0040072	Abnormal forearm bone morphology	
HP:0040073	Obsolete Abnormal forearm bone morphology	
HP:0040075	Hypopituitarism	
HP:0040078	Axonal degeneration	
HP:0040079	Irregular dentition	
HP:0040080	Anteverted ears	
HP:0040081	Abnormal circulating creatine kinase concentration	Any deviation from the normal circulating creatine kinase concentration.
HP:0040082	Happy demeanor	A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.
HP:0040084	Abnormal circulating renin	A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.
HP:0040085	Abnormal circulating aldosterone	
HP:0040086	Abnormal prolactin level	
HP:0040087	Abnormal blood folate concentration	Any deviation from the normal concentration of folate in the blood circulation.
HP:0040088	Abnormal lymphocyte count	Any abnormality in the total number of lymphocytes in the blood.
HP:0040089	Abnormal natural killer cell count	Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.
HP:0040090	Abnormality of the tympanic membrane	An abnormality of the tympanic membrane
HP:0040091	Asymmetry of the size of ears	
HP:0040092	Asymmetry of the shape of the ears	
HP:0040093	Asymmetry of the position of the ears	
HP:0040095	Neoplasm of the outer ear	A tumor (abnormal growth of tissue) of the outer ear.
HP:0040096	Neoplasm of the inner ear	A tumor (abnormal growth of tissue) of the inner ear.
HP:0040097	Neoplasm of the ceruminal gland	A tumor (abnormal growth of tissue) of the ceruminal gland.
HP:0040098	Basalioma of the outer ear	
HP:0040099	Abnormality of the round window	
HP:0040100	Abnormality of the vestibular window	
HP:0040101	Cutaneous atresia of the external auditory canal	
HP:0040102	Osseous atresia of the external auditory canal	
HP:0040103	Cutaneous stenosis of the external auditory canal	
HP:0040104	Osseous stenosis of the external auditory canal	
HP:0040106	Morphological abnormality of the lateral semicircular canal	
HP:0040107	Morphological abnormality of the posterior semicircular canal	
HP:0040108	Morphological abnormality of the anterior semicircular canal	
HP:0040109	Morphological abnormality of the utricle	
HP:0040110	Morphological abnormality of the saccule	
HP:0040112	Abnormal number of tubercles	
HP:0040113	Old-aged sensorineural hearing impairment	
HP:0040114	Absence of the reflex of the tensor tympani muscle	
HP:0040115	Abnormal Eustachian tube morphology	A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.
HP:0040116	Aplasia of the Eustachian tube	
HP:0040117	Atresia of the Eustachian tube	
HP:0040118	Stenosis of the Eustachian tube	
HP:0040119	Unilateral conductive hearing impairment	
HP:0040120	Abnormality of the reflex of the tensor tympani muscle	
HP:0040121	Abnormality of the acoustic reflex	An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.
HP:0040122	Impairment of the the acoustic reflex	
HP:0040123	Impairment of the reflex of the tensor tympani muscle	
HP:0040126	Abnormal vitamin B12 level	A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.
HP:0040127	Abnormal sweat homeostasis	An abnormality of the composition of sweat or the levels of its components.
HP:0040128	Abnormal sweat electrolytes	
HP:0040129	Abnormal nerve conduction velocity	
HP:0040130	Abnormal serum iron concentration	
HP:0040131	Abnormal motor nerve conduction velocity	
HP:0040132	Abnormal sensory nerve conduction velocity	
HP:0040133	Abnormal circulating ferritin concentration	A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.
HP:0040134	Abnormal hepatic iron concentration	
HP:0040135	Abnormal transferrin saturation	Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.
HP:0040137	Comedonal acne	A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.
HP:0040138	Mucinous histiocytosis	Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.
HP:0040139	Lipogranulomatosis	Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.
HP:0040140	Degeneration of the striatum	
HP:0040141	Tardive dyskinesia	
HP:0040142	Reduced 5-oxoprolinase level	Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.
HP:0040143	Dystopic os odontoideum	Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus
HP:0040144	L-2-hydroxyglutaric aciduria	An increase in the level of L-2-hydroxyglutaric acid in the urine.
HP:0040145	Dicarboxylic acidemia	
HP:0040146	D-2-hydroxyglutaric acidemia	
HP:0040147	L-2-hydroxyglutaric acidemia	
HP:0040148	Cortical myoclonus	Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).
HP:0040149	Woolly scalp hair	The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
HP:0040150	Epiblepharon of upper lid	
HP:0040151	Epiblepharon of lower lid	
HP:0040154	Acne inversa	A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.
HP:0040155	Elevated urinary 3-hydroxybutyric acid	An increased amount of 3-hydroxybutyric acid in the urine.
HP:0040156	Elevated urinary carboxylic acid	An increased amount of carboxylic acid in the urine.
HP:0040157	Abnormal intermamillary distance	
HP:0040158	Short intermamillary distance	
HP:0040159	Abnormal spaced incisors	
HP:0040160	Generalized osteoporosis	
HP:0040161	Localized osteoporosis	
HP:0040162	Orthokeratosis	Formation of an anuclear keratin layer
HP:0040163	Abnormal pelvis bone morphology	
HP:0040164	Lipomas of eyelids	Fatty tumors on the eyelids.
HP:0040165	Periostitis	Inflammation of the periosteum
HP:0040167	Facial papilloma	
HP:0040169	Loose anagen hair	
HP:0040170	Abnormality of hair growth	
HP:0040171	Decreased serum testosterone concentration	
HP:0040172	Abnormality of occipitofrontalis muscle	
HP:0040173	Abnormality of the tongue muscle	
HP:0040174	Abnormality of extrinsic muscle of tongue	
HP:0040175	Platelet-activating factor acetylhydrolase deficiency	Reduced level of platelet-activating factor acetylhydrolase.
HP:0040176	Abnormal circulating phospholipid concentration	Any deviation from the normal concentration of a phospholipid in the blood circulation.
HP:0040177	Abnormal level of platelet-activating factor	
HP:0040178	Increased level of platelet-activating factor	
HP:0040179	Decreased level of platelet-activating factor	
HP:0040181	Chapped lip	Cracking, fissuring, and peeling of the skin of the lips.
HP:0040182	Inappropriate sinus tachycardia	Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.
HP:0040183	Encopresis	
HP:0040184	Oral bleeding	
HP:0040185	Macrothrombocytopenia	
HP:0040186	Maculopapular exanthema	A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.
HP:0040187	Neonatal sepsis	Systemic inflammatory response to infection in newborn babies.
HP:0040188	Osteochondrosis	Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.
HP:0040189	Scaling skin	Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
HP:0040190	White scaling skin	
HP:0040191	Rectus femoris muscle atrophy	
HP:0040192	APUdoma	An endocrine tumor arising from an APUD cell.
HP:0040194	Increased head circumference	An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.
HP:0040195	Decreased head circumference	An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.
HP:0040196	Mild microcephaly	Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).
HP:0040197	Encephalomalacia	Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.
HP:0040198	Non-medullary thyroid carcinoma	
HP:0040200	Motor impersistence	The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.
HP:0040201	Simultanapraxia	A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.
HP:0040202	Abnormal consumption behavior	Abnormal and compulsive consumption of food, liquid, or objects that could have negative consequences for the individual
HP:0040203	Abnormal CSF neopterin concentration	Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).
HP:0040204	Elevated CSF neopterin level	Increased concentration of neopterin in the cerebrospinal fluid (CSF).
HP:0040205	Decreased CSF neopterin level	Decreased concentration of neopterin in the cerebrospinal fluid (CSF).
HP:0040206	Abnormal circulating neopterin concentration	Any deviation from the normal concentration of neopterin in the blood circulation.
HP:0040207	Abnormal CSF biopterin concentration	Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).
HP:0040208	Elevated CSF biopterin level	Increased concentration of biopterin in the cerebrospinal fluid (CSF).
HP:0040209	Decreased CSF biopterin level	Decreased concentration of biopterin in the cerebrospinal fluid (CSF).
HP:0040210	Abnormal circulating biopterin concentration	A deviation from the normal concentration of biopterin in the blood circulation.
HP:0040211	Abnormal skin morphology of the palm	An abnormality of the skin of the palm, that is, the skin of the front of the hand.
HP:0040212	Risus sardonicus	Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.
HP:0040213	Hypopnea	Hypopnea is referring to breathing that is abnormally shallow.
HP:0040214	Abnormal circulating insulin concentration	An abnormal concentration of insulin in the body.
HP:0040216	Hypoinsulinemia	A decreased concentration of insulin in the blood.
HP:0040217	Elevated hemoglobin A1c	An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
HP:0040218	Reduced natural killer cell count	Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
HP:0040219	Absent natural killer cells	Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.
HP:0040220	Abnormal size of the dental root	
HP:0040221	Hypoplasia of the dental root	
HP:0040222	Maternal thrombophilia	An increased tendency towards thrombosis in the mother during a pregnancy.
HP:0040223	Pulmonary hemorrhage	Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.
HP:0040224	Abnormality of fibrinolysis	Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)
HP:0040225	Decrease in high molecular weight von Willebrand factor Multimers	A decrease in high molecular weight von Willebrand factor multimers.
HP:0040226	Decreased level of heparin co-factor II	An abnormality of coagulation related to a decreased concentration of heparin co-factor II
HP:0040227	Decreased level of histidine-rich glycoprotein	Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation
HP:0040228	Decreased level of plasminogen	A decreased level of Plasminogen
HP:0040229	Decreased level of thrombomodulin	Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot
HP:0040230	Decreased level of tissue plasminogen activator	The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis
HP:0040231	Abnormal onset of bleeding	
HP:0040232	Delayed onset bleeding	Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.
HP:0040233	Factor XIII subunit A deficiency	Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.
HP:0040234	Factor XIII subunit B deficiency	Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.
HP:0040235	Leukocyte inclusion bodies	The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.
HP:0040236	Hyperfibrinolysis	Increased degradation of fibrin, associated with clot instability and bleeding
HP:0040237	Impaired binding of factor VIII to VWF	Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.
HP:0040238	Impaired neutrophil chemotaxis	An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response
HP:0040239	Increased plasma vitamin K epoxide after vitamin K supplementation	Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.
HP:0040240	Increased ratio of VWF propeptide to VWF antigen	An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.
HP:0040241	Increased RIPA	Increased platelet agglutination in response to low-dose ristocetin
HP:0040242	Muscle hemorrhage	Bleeding occuring within a muscle
HP:0040243	Prolonged euglobulin clot lysis time	Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.
HP:0040244	Prolonged Russell's viper venom time	Increased time to coagulation in the Russell's viper venom assay
HP:0040245	Reduced alpha-2-antiplasmin activity	Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.
HP:0040246	Reduced antithrombin antigen	Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.
HP:0040247	Reduced euglobulin clot lysis time	Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.
HP:0040248	Reduced plasminogen activator inhibitor 1 activity	Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.
HP:0040249	Reduced plasminogen activator inhibitor 1 antigen	Reduced level of plasminogen activator inhibitor 1 antigen.
HP:0040250	Reduced prothrombin antigen	Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.
HP:0040251	Hand dimple	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.
HP:0040252	Abnormal size of the clitoris	
HP:0040253	Increased size of the clitoris	
HP:0040254	Decreased size of the clitoris	
HP:0040255	Aplasia/Hypoplasia of the clitoris	
HP:0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	Absence or underdevelopment of the nasopharyngeal adenoids.
HP:0040257	Abnormal size of nasopharyngeal adenoids	A deviation in the size of nasopharyngeal adenoids.
HP:0040258	Hypoplastic nasopharyngeal adenoids	Underdevelopment of the nasopharyngeal adenoids.
HP:0040259	Aplastic nasopharyngeal adenoids	Absence of the nasopharyngeal adenoids as a developmental defect.
HP:0040260	Decreased size of nasopharyngeal adenoids	An abnormal decrease in the size of nasopharyngeal adenoids.
HP:0040261	Increased size of nasopharyngeal adenoids	An abnormal increase in the size of nasopharyngeal adenoids.
HP:0040262	Glue ear	Middle ear is filled with glue-like fluid instead of air.
HP:0040263	Jaw ankylosis	
HP:0040264	Jaw pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.
HP:0040265	Upper limb muscle hypertrophy	Abnormal increase in muscle size and mass of one or both arms not due to training.
HP:0040266	Proximal upper limb muscle hypertrophy	
HP:0040267	Distal upper limb muscle hypertrophy	
HP:0040268	Recurrent infections of the middle ear	Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections
HP:0040269	Blocked Eustachian tube	
HP:0040270	Impaired glucose tolerance	An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
HP:0040272	Hyperintensity of MRI T2 signal of the spinal cord	A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.
HP:0040273	Adenocarcinoma of the intestines	A malignant epithelial tumor with a glandular organization that originates in the intestines.
HP:0040274	Adenocarcinoma of the small intestine	A malignant epithelial tumor with a glandular organization that originates in the small intestine.
HP:0040275	Adenocarcinoma of the large intestine	A malignant epithelial tumor with a glandular organization that originates in the large intestine.
HP:0040276	Adenocarcinoma of the colon	
HP:0040277	Neoplasm of the pituitary gland	
HP:0040278	Prolactinoma	A benign tumor (adenoma) of the pituitary gland
HP:0040279	Frequency	Class to represent frequency of phenotypic abnormalities within a patient cohort.
HP:0040280	Obligate	Always present, i.e. in 100% of the cases.
HP:0040281	Very frequent	Present in 80% to 99% of the cases.
HP:0040282	Frequent	Present in 30% to 79% of the cases.
HP:0040283	Occasional	Present in 5% to 29% of the cases.
HP:0040284	Very rare	Present in 1% to 4% of the cases.
HP:0040285	Excluded	Present in 0% of the cases.
HP:0040286	Abnormal axial muscle morphology	A structural anomaly of the muscles of the trunk and head.
HP:0040287	Axial muscle atrophy	
HP:0040288	Nasogastric tube feeding	The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.
HP:0040289	Cyclic neutropenia	Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).
HP:0040291	Skeletal muscle steatosis	
HP:0040292	Left hemiplegia	
HP:0040293	Right hemiplegia	
HP:0040294	Duplicated tongue	
HP:0040295	Duplication of the upper lip	
HP:0040296	Abnormal location of the eyebrow	Anomalous anatomical placement of the eyebrow.
HP:0040297	Preauricular cyst	Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.
HP:0040298	Hyperplasia of the endometrium	
HP:0040299	Decreased circulating free fatty acid level	
HP:0040300	Abnormal circulating free fatty acid concentration	Any deviation from the normal concentration of a free fatty acid in the blood circulation.
HP:0040301	Increased urinary glycerol	An increased concentration of glycerol in the urine.
HP:0040302	Hyperglycerolemia	Increased concentration of glycerol in the blood.
HP:0040303	Decreased serum iron	
HP:0040304	Duplication of the sella turcica	
HP:0040305	Increased male libido	Increased desire for sexual activity on the part of a male.
HP:0040306	Decreased male libido	Reduced desire for sexual activity on the part of a male.
HP:0040307	Male sexual dysfunction	A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity
HP:0040308	Male anorgasmia	Inability of a male to reach orgasm.
HP:0040309	Increased size of the mandible	
HP:0040310	Sterile arthritis	An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.
HP:0040311	Symmetric polyarthritis	Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.
HP:0040312	Temporomandibular arthritis	
HP:0040313	Oligoarthritis	A type of arthritis that affects up to four joints in the first six months of disease.
HP:0040314	Blind vagina	The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.
HP:0040315	Tongue edema	An abnormal accumulation of fluid and swelling in the tongue.
HP:0040317	Blue urine	An abnormal blue color of the urine.
HP:0040318	Red urine	An abnormal red color of the urine.
HP:0040319	Dark urine	An abnormal dark color of the urine.
HP:0040320	Red-brown urine	An abnormal red-brown color of the urine.
HP:0040321	Dark yellow urine	An abnormal dark-yellow color of the urine.
HP:0040322	Purple urine	An abnormal purple color of the urine.
HP:0040323	Erythema of the eyelids	Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0040324	Heliotrope rash	In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.
HP:0040325	Bull's eye rash	A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.
HP:0040326	Hypoplasia of the olfactory bulb	Underdevelopment of the olfactory bulb.
HP:0040327	Abnormal morphology of the olfactory bulb	An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.
HP:0040328	Focal hyperintensity of cerebral white matter on MRI	An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.
HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.
HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.
HP:0040331	Focal hypointensity of cerebral white matter on MRI	
HP:0040332	Multifocal hypointensity of cerebral white matter on MRI	
HP:0040333	Confluent hypointensity of cerebral white matter on MRI	
HP:0040334	Purulent rhinitis	Chronic rhinitis accompanied by pus formation.
HP:0041042	Absent neutrophil lactoferrin	The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.
HP:0041043	Neutrophil nuclear clefts	An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.
HP:0041044	Low neutrophil alkaline phosphatase	An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.
HP:0041045	Increased neutrophil mitochondria	An increased number of mitochondria detected in neutrophils.
HP:0041046	Increased neutrophil ribosomes	An increased number of ribosomes detected in neutrophils.
HP:0041047	Bladder outlet obstruction	A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).
HP:0041048	Decreased expression of GPI-anchored proteins on the cell surface	A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.
HP:0041049	Starch intolerance	An inability to digest starch.
HP:0041050	Renal tubular cyst	Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.
HP:0041051	Ageusia	A rare condition that is characterized by a complete loss of taste function of the tongue.
HP:0041052	Agenesis of putamen	A developmental defect characterized by the absence of the putamen owing to its failure to develop.
HP:0041055	Fractured humerus	A partial or complete breakage of the humerus.
HP:0041056	Hot cross bun sign	A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).
HP:0041057	Transient decreased circulating IgG4	A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.
HP:0041058	Chronic decreased circulating IgG4	A lasting decrease of immunoglobulin G4 (IgG4) in the blood.
HP:0041059	Chronic (near) absent circulating IgG4	A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.
HP:0041060	Chronic partially decreased circulating IgG4	A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.
HP:0041061	Fractured calcaneus	A partial or complete breakage of the calcaneus.
HP:0041062	Transient decreased circulating IgG2	A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.
HP:0041063	Chronic decreased cirulating IgG2	A lasting decrease of immunoglobulin G2 (IgG2) in the blood.
HP:0041064	Fractured knee	A partial or complete breakage of the knee.
HP:0041065	Chronic (near) absent circulating IgG2	A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.
HP:0041066	Chronic partially decreased circulating IgG2	A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.
HP:0041067	Transient decreased circulating IgG1	A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.
HP:0041068	Chronic decreased circulating IgG1	A lasting decrease of immunoglobulin G1 (IgG1) in the blood.
HP:0041069	Chronic (near) absent circulating IgG1	A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.
HP:0041070	Chronic partially decreased circulating IgG1	A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.
HP:0041071	Transient decreased circulating IgG3	A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.
HP:0041072	Chronic decreased circulating IgG3	A lasting decrease of immunoglobulin G3 (IgG3) in the blood.
HP:0041073	Fractured thoracic vertebra	A partial or complete breakage of the thoracic vertebra.
HP:0041074	Chronic (near) absent circulating IgG3	A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.
HP:0041075	Chronic partially decreased circulating IgG3	A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.
HP:0041076	Abnormal immunoglobulin level in body fluid	An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.
HP:0041077	Increased immunoglobulin level in body fluid	An elevation from normal levels of immunoglobulins in body fluids, such as mucous.
HP:0041078	Decreased immunoglobulin level in body fluid	An reduction from normal levels of immunoglobulins in body fluids, such as mucous.
HP:0041079	Decreased body fat percentage	The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.
HP:0041080	Abnormal proportion of exhausted T cells	A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.
HP:0041081	Fractured lower leg	Bone fracture anywhere in the tibia, fibula, or ankle.
HP:0041082	Fractured skull	A partial or complete breakage of the skull.
HP:0041083	Fractured phalanx	A partial or complete breakage of the phalanx.
HP:0041084	Compression-fractured thoracic vertebra	A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.
HP:0041085	Compression-fractured vertebra	A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.
HP:0041086	Compression-fractured cervical vertebra	A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.
HP:0041087	Compression-fractured lumbar vertebra	A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.
HP:0041088	Avulsion fractured humerus	A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.
HP:0041089	Avulsion fractured tibia	A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.
HP:0041091	Avulsion fractured epiphysis of femur	A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.
HP:0041092	Emotional hypersensitivity	Heightened emotional reactivity to environmental stimuli, including emotions of others.
HP:0041093	Beau's lines	A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.
HP:0041094	Complete tracheal ring	Continuous or nearly continuous configuration of the cartilaginous tracheal ring.
HP:0041095	Decreased middle cerebral artery pulsatility index	Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.
HP:0041114	Fractured metaphysis of femur	A partial or complete breakage of the metaphysis of femur.
HP:0041115	Fractured right clavicle	A partial or complete breakage of the right clavicle.
HP:0041116	Fractured left clavicle	A partial or complete breakage of the left clavicle.
HP:0041117	Fractured lower limb segment	A partial or complete breakage of the lower limb segment.
HP:0041118	Fractured upper limb segment	A partial or complete breakage of the upper limb segment.
HP:0041119	Fractured metacarpus skeleton	A partial or complete breakage of the metacarpus skeleton.
HP:0041121	Fractured epiphysis of fifth metacarpal bone	A partial or complete breakage of the epiphysis of fifth metacarpal bone.
HP:0041143	Fractured tibia	A partial or complete breakage of the tibia.
HP:0041144	Fractured clavicle bone	A partial or complete breakage of the clavicle bone.
HP:0041145	Fractured acetabular part of hip bone	A partial or complete breakage of the acetabular part of hip bone.
HP:0041146	Fractured coccyx	A partial or complete breakage of the coccyx.
HP:0041147	Fractured epiphysis	A partial or complete breakage of the epiphysis.
HP:0041149	Fractured navicular bone of pes	A partial or complete breakage of the navicular bone of pes.
HP:0041150	Fractured cuboid bone	A partial or complete breakage of the cuboid bone.
HP:0041152	Fractured sternoclavicular joint	A partial or complete breakage of the sternoclavicular joint.
HP:0041153	Fractured ankle	A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).
HP:0041154	Fractured elbow joint	A partial or complete breakage of the elbow joint.
HP:0041155	Fractured mandible	A partial or complete breakage of the mandible.
HP:0041156	Fractured orbit of skull	A partial or complete breakage of the orbit of skull.
HP:0041157	Fractured larynx	A partial or complete breakage of the larynx.
HP:0041159	Fractured rib	A partial or complete breakage of the rib.
HP:0041162	Metatarsal fracture	A partial or complete breakage of a metatarsal bone.
HP:0041163	Fractured manual digit	A partial or complete breakage of the manual digit.
HP:0041164	Fractured talus	A partial or complete breakage of the talus.
HP:0041165	Fractured maxilla	A partial or complete breakage of the maxilla.
HP:0041166	Fractured vertebra	A partial or complete breakage of the vertebra.
HP:0041167	Fractured cervical vertebra	A partial or complete breakage of the cervical vertebra.
HP:0041168	Fractured lumbar vertebra	A partial or complete breakage of the lumbar vertebra.
HP:0041172	Fractured fused sacrum	A partial or complete breakage of the fused sacrum.
HP:0041173	Fractured metacarpophalangeal joint	A partial or complete breakage of the metacarpophalangeal joint.
HP:0041174	Fractured distal phalanx of manus	A partial or complete breakage of the distal phalanx of manus.
HP:0041175	Fractured middle phalanx of pes	A partial or complete breakage of the middle phalanx of pes.
HP:0041176	Fractured distal phalanx of manual digit 2	A partial or complete breakage of the distal phalanx of manual digit 2.
HP:0041177	Fractured distal phalanx of manual digit 3	A partial or complete breakage of the distal phalanx of manual digit 3.
HP:0041178	Fractured distal phalanx of manual digit 4	A partial or complete breakage of the distal phalanx of manual digit 4.
HP:0041179	Fractured distal phalanx of manual digit 5	A partial or complete breakage of the distal phalanx of manual digit 5.
HP:0041180	Fractured distal phalanx of pedal digit 1	A partial or complete breakage of the distal phalanx of pedal digit 1.
HP:0041181	Fractured distal phalanx of pedal digit 3	A partial or complete breakage of the distal phalanx of pedal digit 3.
HP:0041182	Fractured middle phalanx of manual digit 2	A partial or complete breakage of the middle phalanx of manual digit 2.
HP:0041183	Fractured middle phalanx of manual digit 3	A partial or complete breakage of the middle phalanx of manual digit 3.
HP:0041184	Fractured middle phalanx of manual digit 4	A partial or complete breakage of the middle phalanx of manual digit 4.
HP:0041185	Fractured middle phalanx of manual digit 5	A partial or complete breakage of the middle phalanx of manual digit 5.
HP:0041186	Fractured middle phalanx of pedal digit 3	A partial or complete breakage of the middle phalanx of pedal digit 3.
HP:0041187	Fractured proximal phalanx of pedal digit 1	A partial or complete breakage of the proximal phalanx of pedal digit 1.
HP:0041188	Fractured proximal phalanx of manual digit 1	A partial or complete breakage of the proximal phalanx of manual digit 1.
HP:0041189	Fractured epiphysis of femur	A partial or complete breakage of the epiphysis of femur.
HP:0041190	Fractured epiphysis of second metacarpal bone	A partial or complete breakage of the epiphysis of second metacarpal bone.
HP:0041191	Fractured epiphysis of third metacarpal bone	A partial or complete breakage of the epiphysis of third metacarpal bone.
HP:0041192	Fractured epiphysis of fourth metacarpal bone	A partial or complete breakage of the epiphysis of fourth metacarpal bone.
HP:0041193	Fractured epiphysis of first metatarsal bone	A partial or complete breakage of the epiphysis of first metatarsal bone.
HP:0041194	Fractured epiphysis of second metatarsal bone	A partial or complete breakage of the epiphysis of second metatarsal bone.
HP:0041195	Fractured epiphysis of third metatarsal bone	A partial or complete breakage of the epiphysis of third metatarsal bone.
HP:0041196	Fractured distal epiphysis of radius	A partial or complete breakage of the distal epiphysis of radius.
HP:0041197	Fractured proximal epiphysis of first metacarpal bone	A partial or complete breakage of the proximal epiphysis of first metacarpal bone.
HP:0041198	Fractured proximal epiphysis of middle phalanx of manual digit 3	A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.
HP:0041199	Fractured interphalangeal joint	A partial or complete breakage of the interphalangeal joint.
HP:0041200	Fractured sternal end of clavicle	A partial or complete breakage of the sternal end of clavicle.
HP:0041209	Fractured epiphysis of middle phalanx of manus	A partial or complete breakage of the epiphysis of middle phalanx of manus.
HP:0041210	Fractured lateral malleolus of fibula	A partial or complete breakage of the lateral malleolus of fibula.
HP:0041211	Fractured proximal phalanx of digit 2	A partial or complete breakage of the proximal phalanx of digit 2.
HP:0041212	Fractured proximal phalanx of digit 3	A partial or complete breakage of the proximal phalanx of digit 3.
HP:0041213	Fractured proximal phalanx of digit 4	A partial or complete breakage of the proximal phalanx of digit 4.
HP:0041214	Fractured proximal phalanx of digit 5	A partial or complete breakage of the proximal phalanx of digit 5.
HP:0041215	Fractured fused metatarsal bones 2-4	A partial or complete breakage of the fused metatarsal bones 2-4.
HP:0041216	Fractured distal epiphysis of distal phalanx of manual digit 1	A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.
HP:0041217	Fractured shoulder	A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.
HP:0041218	Fractured distal phalanx	A partial or complete breakage of the distal phalanx.
HP:0041219	Fractured elbow	A partial or complete breakage of the elbow.
HP:0041220	Fractured facial bone	A partial or complete breakage of the facial bone.
HP:0041221	Fractured head of femur	A partial or complete breakage of the head of femur.
HP:0041222	Fractured fibula	A partial or complete breakage of the fibula.
HP:0041223	Fractured metatarsal bone of digit 5	A partial or complete breakage of the metatarsal bone of digit 5.
HP:0041224	Fractured manual digit bone	A partial or complete breakage of the manual digit bone.
HP:0041225	Fractured metacarpal bone of digit 1	A partial or complete breakage of the metacarpal bone of digit 1.
HP:0041226	Fractured distal tarsal bone	A partial or complete breakage of the distal tarsal bone.
HP:0041227	Fractured distal tarsal bone 2	A partial or complete breakage of the distal tarsal bone 2.
HP:0041228	Fractured distal tarsal bone 3	A partial or complete breakage of the distal tarsal bone 3.
HP:0041230	Fractured metatarsal bone of digit 4	A partial or complete breakage of the metatarsal bone of digit 4.
HP:0041231	Fractured metatarsal bone of digit 1	A partial or complete breakage of the metatarsal bone of digit 1.
HP:0041233	Fractured ilium	A partial or complete breakage of the ilium.
HP:0041234	Fractured bone of jaw	A partial or complete breakage of the bone of jaw.
HP:0041235	Fractured hindlimb bone	A partial or complete breakage of the hindlimb bone.
HP:0041236	Fractured middle phalanx of manus	A partial or complete breakage of the middle phalanx of manus.
HP:0041237	Fractured patella	A partial or complete breakage of the patella.
HP:0041239	Fractured manual digit 1 phalanx	A partial or complete breakage of the manual digit 1 phalanx.
HP:0041240	Fractured phalanx of pes	A partial or complete breakage of the phalanx of pes.
HP:0041241	Fractured phalanx of manus	A partial or complete breakage of the phalanx of manus.
HP:0041243	Fractured proximal phalanx of manus	A partial or complete breakage of the proximal phalanx of manus.
HP:0041244	Fractured scapula	A partial or complete breakage of the scapula.
HP:0041245	Fractured shoulder bone	A partial or complete breakage of a shoulder bone.
HP:0041246	Fractured sternum	A partial or complete breakage of the sternum.
HP:0041247	Fractured tarsal bone	A partial or complete breakage of the tarsal bone.
HP:0041248	Fractured carpal bone	A partial or complete breakage of the carpal bone.
HP:0041249	Fractured nose	A partial or complete breakage of the nose.
HP:0045001	Abnormal ossification of the trapezium	
HP:0045002	Absent ossification of the trapezium	
HP:0045003	Abnormal ossification of the scaphoid	
HP:0045004	Abnormal ossification of the trapezoid bone	
HP:0045005	Neural tube defect	A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.
HP:0045006	Aplasia of lymphatic vessels	Aplasia (absence) of the lymphatic vessels.
HP:0045007	Abnormal substantia nigra morphology	A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.
HP:0045008	Abnormal shape of the radius	
HP:0045010	Abnormality of peripheral nerves	
HP:0045011	Decreased urine bicarbonate concentration	Abnormally decreased concentration of hydrogencarbonate in the urine.
HP:0045012	Decreased urinary catecholamine concentration	
HP:0045014	Hypolipidemia	
HP:0045017	Congenital malformation of the left heart	Defect or defects of the morphogenesis of the left heart identifiable at birth.
HP:0045018	Partial duplication of eyebrows	
HP:0045025	Narrow palpebral fissure	Reduction in the vertical distance between the upper and lower eyelids.
HP:0045026	Abnormal mediastinum morphology	Any structural anomaly of the central compartment of the thoracic cavity.
HP:0045027	Abnormality of the thoracic cavity	
HP:0045028	Microlissencephaly	Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.
HP:0045029	Eosinophilic fasciitis	Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.
HP:0045034	Elevated urinary aminoisobutyric acid	An increased amount of 3-aminoisobutyric acid in the urine.
HP:0045035	Decreased urinary copper concentration	
HP:0045036	Abnormal urinary copper concentration	
HP:0045037	Abnormality of jaw muscles	
HP:0045038	Gastric lymphoma	Lymphoma that originates in the stomach itself.
HP:0045039	Osteolysis involving bones of the upper limbs	
HP:0045040	Abnormal lactate dehydrogenase level	A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.
HP:0045041	Reduced lactate dehydrogenase B level	A decreased or reduced level of the enzyme lactate dehydrogenase in serum.
HP:0045042	Decreased circulating complement C4 concentration	Concentration of the complement component C4 in the blood circulation below the lower limit of normal.
HP:0045043	Decreased circulating complement C4a concentration	Concentration of the complement component C4a in the blood circulation below the lower limit of normal.
HP:0045044	Decreased circulating complement C4b concentration	Concentration of the complement component C4b in the blood circulation below the lower limit of normal.
HP:0045045	Elevated circulating acylcarnitine concentration	An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.
HP:0045046	Reduced insulin like growth factor binding protein acid labile subunit concentration	An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.
HP:0045047	HbS hemoglobin	Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.
HP:0045048	Increased HbA2 hemoglobin	An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.
HP:0045049	Abnormal DLCO	An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.
HP:0045050	Increased DLCO	Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
HP:0045051	Decreased DLCO	Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.
HP:0045052	Abnormality of the brachial nerve plexus	Any abnormality of the brachial nerve plexus.
HP:0045053	Abnormality of the lumbosacral nerve plexus	Any abnormality of the lumbosacral nerve plexus.
HP:0045054	Brachial plexus neuropathy	
HP:0045055	Tiger tail banding	An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.
HP:0045056	Abnormal circulating alpha-fetoprotein concentration	Concentration of alpha-fetoprotein in the blood circulation outside normal limits.
HP:0045057	Decreased circulating alpha-fetoprotein concentration	Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.
HP:0045058	Abnormality of the testis size	An anomaly of the size of the testicle (the male gonad).
HP:0045059	Hyperkeratotic papule	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).
HP:0045060	Aplasia/hypoplasia involving bones of the extremities	
HP:0045061	Decreased carnitine level in liver	
HP:0045063	Increased PIVKA-II	Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.
HP:0045073	Serositis	Inflammation in any serous cavity.
HP:0045074	Thin eyebrow	Decreased diameter of eyebrow hairs.
HP:0045075	Sparse eyebrow	Decreased density/number of eyebrow hairs.
HP:0045079	Distal femoral metaphyseal irregularity	Irregularity of the normally smooth surface of the distal metaphysis of the femur.
HP:0045080	Decreased proportion of CD3-positive T cells	Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.
HP:0045081	Abnormality of body mass index	Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.
HP:0045082	Decreased body mass index	Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.
HP:0045084	Limb myoclonus	
HP:0045085	Atrophy of masseter muscle	
HP:0045086	Knee joint hypermobility	The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).
HP:0045087	Hip joint hypermobility	
HP:0045088	Clinical relevance	Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.
HP:0045089	Distinctive finding	In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.
HP:0045090	Minor finding	In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.
HP:0046502	Anorgasmia	Inability of individual to reach orgasm.
HP:0046503	Increased libido	Elevated sexual desire.
HP:0046504	Decreased libido	Decreased sexual desire.
HP:0046505	Hand pain	An unpleasant sensation characterized by physical discomfort localized to the hand.
HP:0046506	Pain in head and neck region	
HP:0046507	Bradypnea	Bradypnea is referring to breathing that is abnormally slow.
HP:0046508	Abnormal cervical spine morphology	Any morphological abnormality of the cervical vertebral column.
HP:0100000	Early onset of sexual maturation	An early onset of puberty, in this case early does not refer to precocious.
HP:0100001	Malignant mesothelioma	Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.
HP:0100002	Pleural mesothelioma	A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.
HP:0100003	Peritoneal mesothelioma	A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.
HP:0100004	Pericardial mesothelioma	A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).
HP:0100005	Testicular mesothelioma	A Malignant mesothelioma of the testis.
HP:0100006	Neoplasm of the central nervous system	A neoplasm of the central nervous system.
HP:0100007	Neoplasm of the peripheral nervous system	A benign or malignant neoplasm (tumor) of the peripheral nervous system.
HP:0100008	Schwannoma	A benign nerve sheath tumor composed of Schwann cells.
HP:0100009	Intracranial meningioma	
HP:0100010	Spinal meningioma	
HP:0100011	Scleral schwannoma	
HP:0100012	Neoplasm of the eye	A tumor (abnormal growth of tissue) of the eye.
HP:0100013	Neoplasm of the breast	A tumor (abnormal growth of tissue) of the breast.
HP:0100014	Epiretinal membrane	An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.
HP:0100015	Stahl ear	The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.
HP:0100016	Abnormality of mesentery morphology	Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).
HP:0100017	Capsular cataract	A cataract that affects the capsule of the lens.
HP:0100018	Nuclear cataract	A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
HP:0100019	Cortical cataract	A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
HP:0100020	Posterior capsular cataract	A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.
HP:0100021	Cerebral palsy	Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
HP:0100022	Abnormality of movement	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
HP:0100023	Recurrent hand flapping	A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.
HP:0100024	Conspicuously happy disposition	An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.
HP:0100025	Overfriendliness	A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.
HP:0100026	Arteriovenous malformation	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
HP:0100027	Recurrent pancreatitis	A recurrent form of pancreatitis.
HP:0100028	Ectopic thyroid	Mislocalised thyroid gland.
HP:0100029	Lingual thyroid	An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.
HP:0100030	Accessory ectopic thyroid tissue	Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.
HP:0100031	Neoplasm of the thyroid gland	A tumor (abnormal growth of tissue) of the thyroid gland.
HP:0100033	Tics	Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.
HP:0100034	Motor tics	Movement-based tics affecting discrete muscle groups.
HP:0100035	Phonic tics	Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.
HP:0100036	Pseudo-fractures	A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.
HP:0100037	Abnormality of the scalp hair	An abnormality of the hair of head.
HP:0100038	Slow-growing scalp hair	Scalp hair whose growth is slower than normal.
HP:0100039	Thickened cortex of bones	An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.
HP:0100040	Broad 2nd toe	A broad appearance of the second toe.
HP:0100041	Broad 3rd toe	A broad appearance of the third toe.
HP:0100042	Broad 4th toe	A broad appearance of the fourth toe.
HP:0100043	Broad 5th toe	A broad appearance of the fifth toe.
HP:0100044	Absent epiphyses of the 2nd toe	
HP:0100045	Bracket epiphyses of the 2nd toe	
HP:0100046	Cone-shaped epiphyses of the 2nd toe	
HP:0100047	Enlarged epiphyses of the 2nd toe	
HP:0100048	Fragmentation of the epiphyses of the 2nd toe	
HP:0100049	Irregular epiphyses of the 2nd toe	
HP:0100050	Ivory epiphyses of the 2nd toe	Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0100051	Pseudoepiphyses of the 2nd toe	
HP:0100052	Small epiphyses of the 2nd toe	
HP:0100053	Stippling of the epiphyses of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.
HP:0100054	Triangular epiphyses of the 2nd toe	
HP:0100055	Absent epiphyses of the 3rd toe	
HP:0100056	Bracket epiphyses of the 3rd toe	
HP:0100057	Cone-shaped epiphyses of the 3rd toe	
HP:0100058	Enlarged epiphyses of the 3rd toe	
HP:0100059	Fragmentation of the epiphyses of the 3rd toe	
HP:0100060	Irregular epiphyses of the 3rd toe	
HP:0100061	Ivory epiphyses of the 3rd toe	Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0100062	Pseudoepiphyses of the 3rd toe	
HP:0100063	Small epiphyses of the 3rd toe	
HP:0100064	Stippling of the epiphyses of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.
HP:0100065	Triangular epiphyses of the 3rd toe	
HP:0100066	Absent epiphyses of the 4th toe	
HP:0100067	Bracket epiphyses of the 4th toe	
HP:0100068	Cone-shaped epiphyses of the 4th toe	
HP:0100069	Enlarged epiphyses of the 4th toe	
HP:0100070	Fragmentation of the epiphyses of the 4th toe	
HP:0100071	Irregular epiphyses of the 4th toe	
HP:0100072	Ivory epiphyses of the 4th toe	Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0100073	Pseudoepiphyses of the 4th toe	
HP:0100074	Small epiphyses of the 4th toe	
HP:0100075	Stippling of the epiphyses of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.
HP:0100076	Triangular epiphyses of the 4th toe	
HP:0100077	Absent epiphyses of the 5th toe	
HP:0100078	Bracket epiphyses of the 5th toe	
HP:0100079	Cone-shaped epiphyses of the 5th toe	
HP:0100080	Enlarged epiphyses of the 5th toe	
HP:0100081	Fragmentation of the epiphyses of the 5th toe	
HP:0100082	Irregular epiphyses of the 5th toe	
HP:0100083	Ivory epiphyses of the 5th toe	Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0100084	Pseudoepiphyses of the 5th toe	
HP:0100085	Small epiphyses of the 5th toe	
HP:0100086	Stippling of the epiphyses of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.
HP:0100087	Triangular epiphyses of the 5th toe	
HP:0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe	
HP:0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe	
HP:0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe	
HP:0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe	
HP:0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe	
HP:0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe	
HP:0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe	
HP:0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe	
HP:0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe	
HP:0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe	
HP:0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe	
HP:0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe	
HP:0100100	Absent epiphysis of the distal phalanx of the 2nd toe	
HP:0100101	Bracket epiphysis of the distal phalanx of the 2nd toe	
HP:0100102	Cone-shaped epiphysis of the distal phalanx of the 2nd toe	
HP:0100103	Enlarged epiphysis of the distal phalanx of the 2nd toe	
HP:0100104	Fragmentation of the epiphysis of the distal phalanx of the 2nd toe	
HP:0100105	Irregular epiphysis of the distal phalanx of the 2nd toe	
HP:0100106	Ivory epiphysis of the distal phalanx of the 2nd toe	
HP:0100107	Pseudoepiphysis of the distal phalanx of the 2nd toe	
HP:0100108	Small epiphysis of the distal phalanx of the 2nd toe	
HP:0100109	Stippling of the epiphysis of the distal phalanx of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.
HP:0100110	Triangular epiphysis of the distal phalanx of the 2nd toe	
HP:0100111	Absent epiphysis of the middle phalanx of the 2nd toe	
HP:0100112	Bracket epiphysis of the middle phalanx of the 2nd toe	
HP:0100113	Cone-shaped epiphysis of the middle phalanx of the 2nd toe	
HP:0100114	Enlarged epiphysis of the middle phalanx of the 2nd toe	
HP:0100115	Fragmentation of the epiphysis of the middle phalanx of the 2nd toe	
HP:0100116	Irregular epiphysis of the middle phalanx of the 2nd toe	
HP:0100117	Ivory epiphysis of the middle phalanx of the 2nd toe	
HP:0100118	Pseudoepiphysis of the middle phalanx of the 2nd toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe.
HP:0100119	Small epiphysis of the middle phalanx of the 2nd toe	
HP:0100120	Stippling of the epiphysis of the middle phalanx of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.
HP:0100121	Triangular epiphysis of the middle phalanx of the 2nd toe	
HP:0100122	Absent epiphysis of the proximal phalanx of the 2nd toe	
HP:0100123	Bracket epiphysis of the proximal phalanx of the 2nd toe	
HP:0100124	Cone-shaped epiphysis of the proximal phalanx of the 2nd toe	
HP:0100125	Enlarged epiphysis of the proximal phalanx of the 2nd toe	
HP:0100126	Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe	
HP:0100127	Irregular epiphysis of the proximal phalanx of the 2nd toe	
HP:0100128	Ivory epiphysis of the proximal phalanx of the 2nd toe	
HP:0100129	Pseudoepiphysis of the proximal phalanx of the 2nd toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe.
HP:0100130	Small epiphysis of the proximal phalanx of the 2nd toe	
HP:0100131	Stippling of the epiphysis of the proximal phalanx of the 2nd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.
HP:0100132	Triangular epiphysis of the proximal phalanx of the 2nd toe	
HP:0100133	Abnormality of the pubic hair	Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.
HP:0100134	Abnormality of the axillary hair	Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.
HP:0100135	Absent epiphysis of the distal phalanx of the 3rd toe	
HP:0100136	Bracket epiphysis of the distal phalanx of the 3rd toe	
HP:0100137	Cone-shaped epiphysis of the distal phalanx of the 3rd toe	
HP:0100138	Enlarged epiphysis of the distal phalanx of the 3rd toe	
HP:0100139	Fragmentation of the epiphysis of the distal phalanx of the 3rd toe	
HP:0100140	Irregular epiphysis of the distal phalanx of the 3rd toe	
HP:0100141	Ivory epiphysis of the distal phalanx of the 3rd toe	
HP:0100142	Pseudoepiphysis of the distal phalanx of the 3rd toe	
HP:0100143	Small epiphysis of the distal phalanx of the 3rd toe	
HP:0100144	Stippling of the epiphysis of the distal phalanx of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.
HP:0100145	Triangular epiphysis of the distal phalanx of the 3rd toe	
HP:0100146	Absent epiphysis of the middle phalanx of the 3rd toe	
HP:0100147	Bracket epiphysis of the middle phalanx of the 3rd toe	
HP:0100148	Cone-shaped epiphysis of the middle phalanx of the 3rd toe	
HP:0100149	Enlarged epiphysis of the middle phalanx of the 3rd toe	
HP:0100150	Fragmentation of the epiphysis of the middle phalanx of the 3rd toe	
HP:0100151	Irregular epiphysis of the middle phalanx of the 3rd toe	
HP:0100152	Ivory epiphysis of the middle phalanx of the 3rd toe	
HP:0100153	Pseudoepiphysis of the middle phalanx of the 3rd toe	
HP:0100154	Small epiphysis of the middle phalanx of the 3rd toe	
HP:0100155	Stippling of the epiphysis of the middle phalanx of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.
HP:0100156	Triangular epiphysis of the middle phalanx of the 3rd toe	
HP:0100157	Absent epiphysis of the proximal phalanx of the 3rd toe	
HP:0100158	Bracket epiphysis of the proximal phalanx of the 3rd toe	
HP:0100159	Cone-shaped epiphysis of the proximal phalanx of the 3rd toe	
HP:0100160	Enlarged epiphysis of the proximal phalanx of the 3rd toe	
HP:0100161	Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe	
HP:0100162	Irregular epiphysis of the proximal phalanx of the 3rd toe	
HP:0100163	Ivory epiphysis of the proximal phalanx of the 3rd toe	
HP:0100164	Pseudoepiphysis of the proximal phalanx of the 3rd toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.
HP:0100165	Small epiphysis of the proximal phalanx of the 3rd toe	
HP:0100166	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.
HP:0100167	Triangular epiphysis of the proximal phalanx of the 3rd toe	
HP:0100168	Fragmented epiphyses	Fragmented appearance of the epiphyses.
HP:0100169	Absent epiphysis of the distal phalanx of the 4th toe	
HP:0100170	Bracket epiphysis of the distal phalanx of the 4th toe	
HP:0100171	Cone-shaped epiphysis of the distal phalanx of the 4th toe	
HP:0100172	Enlarged epiphysis of the distal phalanx of the 4th toe	
HP:0100173	Fragmentation of the epiphysis of the distal phalanx of the 4th toe	
HP:0100174	Irregular epiphysis of the distal phalanx of the 4th toe	
HP:0100175	Ivory epiphysis of the distal phalanx of the 4th toe	
HP:0100176	Pseudoepiphysis of the distal phalanx of the 4th toe	
HP:0100177	Small epiphysis of the distal phalanx of the 4th toe	
HP:0100178	Stippling of the epiphysis of the distal phalanx of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.
HP:0100179	Triangular epiphysis of the distal phalanx of the 4th toe	
HP:0100180	Absent epiphysis of the middle phalanx of the 4th toe	
HP:0100181	Bracket epiphysis of the middle phalanx of the 4th toe	
HP:0100182	Cone-shaped epiphysis of the middle phalanx of the 4th toe	
HP:0100183	Enlarged epiphysis of the middle phalanx of the 4th toe	
HP:0100184	Fragmentation of the epiphysis of the middle phalanx of the 4th toe	
HP:0100185	Irregular epiphysis of the middle phalanx of the 4th toe	
HP:0100186	Ivory epiphysis of the middle phalanx of the 4th toe	
HP:0100187	Pseudoepiphysis of the middle phalanx of the 4th toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.
HP:0100188	Small epiphysis of the middle phalanx of the 4th toe	
HP:0100189	Stippling of the epiphysis of the middle phalanx of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.
HP:0100190	Triangular epiphysis of the middle phalanx of the 4th toe	
HP:0100191	Absent epiphysis of the proximal phalanx of the 4th toe	
HP:0100192	Bracket epiphysis of the proximal phalanx of the 4th toe	
HP:0100193	Cone-shaped epiphysis of the proximal phalanx of the 4th toe	
HP:0100194	Enlarged epiphysis of the proximal phalanx of the 4th toe	
HP:0100195	Fragmentation of the epiphysis of the proximal phalanx of the 4th toe	
HP:0100196	Irregular epiphysis of the proximal phalanx of the 4th toe	
HP:0100197	Ivory epiphysis of the proximal phalanx of the 4th toe	
HP:0100198	Pseudoepiphysis of the proximal phalanx of the 4th toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe.
HP:0100199	Small epiphysis of the proximal phalanx of the 4th toe	
HP:0100200	Stippling of the epiphysis of the proximal phalanx of the 4th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.
HP:0100201	Triangular epiphysis of the proximal phalanx of the 4th toe	
HP:0100202	Absent epiphysis of the distal phalanx of the 5th toe	
HP:0100203	Bracket epiphysis of the distal phalanx of the 5th toe	
HP:0100204	Cone-shaped epiphysis of the distal phalanx of the 5th toe	
HP:0100205	Enlarged epiphysis of the distal phalanx of the 5th toe	
HP:0100206	Fragmentation of the epiphysis of the distal phalanx of the 5th toe	
HP:0100207	Irregular epiphysis of the distal phalanx of the 5th toe	
HP:0100208	Ivory epiphysis of the distal phalanx of the 5th toe	
HP:0100209	Pseudoepiphysis of the distal phalanx of the 5th toe	
HP:0100210	Small epiphysis of the distal phalanx of the 5th toe	
HP:0100211	Stippling of the epiphysis of the distal phalanx of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.
HP:0100212	Triangular epiphysis of the distal phalanx of the 5th toe	
HP:0100213	Absent epiphysis of the middle phalanx of the 5th toe	
HP:0100214	Bracket epiphysis of the middle phalanx of the 5th toe	
HP:0100215	Cone-shaped epiphysis of the middle phalanx of the 5th toe	
HP:0100216	Enlarged epiphysis of the middle phalanx of the 5th toe	
HP:0100217	Fragmentation of the epiphysis of the middle phalanx of the 5th toe	
HP:0100218	Irregular epiphysis of the middle phalanx of the 5th toe	
HP:0100219	Ivory epiphysis of the middle phalanx of the 5th toe	
HP:0100220	Pseudoepiphysis of the middle phalanx of the 5th toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe.
HP:0100221	Small epiphysis of the middle phalanx of the 5th toe	
HP:0100222	Stippling of the epiphysis of the middle phalanx of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.
HP:0100223	Triangular epiphysis of the middle phalanx of the 5th toe	
HP:0100224	Absent epiphysis of the proximal phalanx of the 5th toe	
HP:0100225	Bracket epiphysis of the proximal phalanx of the 5th toe	
HP:0100226	Cone-shaped epiphysis of the proximal phalanx of the 5th toe	
HP:0100227	Enlarged epiphysis of the proximal phalanx of the 5th toe	
HP:0100228	Fragmentation of the epiphysis of the proximal phalanx of the 5th toe	
HP:0100229	Irregular epiphysis of the proximal phalanx of the 5th toe	
HP:0100230	Ivory epiphysis of the proximal phalanx of the 5th toe	
HP:0100231	Pseudoepiphysis of the proximal phalanx of the 5th toe	A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe.
HP:0100232	Small epiphysis of the proximal phalanx of the 5th toe	
HP:0100233	Stippling of the epiphysis of the proximal phalanx of the 5th toe	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.
HP:0100234	Triangular epiphysis of the proximal phalanx of the 5th toe	
HP:0100235	Synostosis involving bones of the toes	
HP:0100237	Proximal foot symphalangism	
HP:0100238	Synostosis involving bones of the upper limbs	An abnormal union between bones or parts of bones of the upper limbs.
HP:0100240	Synostosis of joints	The abnormal fusion of neighboring bones across a joint.
HP:0100241	Ectopic respiratory mucosa	Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.
HP:0100242	Sarcoma	A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
HP:0100243	Leiomyosarcoma	A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.
HP:0100244	Fibrosarcoma	A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.
HP:0100245	Desmoid tumors	Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.
HP:0100246	Osteoma	Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.
HP:0100247	Recurrent singultus	A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.
HP:0100248	Hemiballismus	Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.
HP:0100249	Calcification of muscles	Deposition of calcium salts in muscle tissue.
HP:0100250	Meningeal calcification	Calcium deposition affecting the Meninges.
HP:0100251	Multiple central nervous system lipomas	The presence of multiple lipomas located in the central nervous system.
HP:0100252	Diaphyseal dysplasia	
HP:0100253	Abnormality of the medullary cavity of the long bones	An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.
HP:0100254	Stenosis of the medullary cavity of the long bones	
HP:0100255	Metaphyseal dysplasia	The presence of dysplastic regions in metaphyseal regions.
HP:0100256	Senile plaques	Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
HP:0100257	Ectrodactyly	A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
HP:0100258	Preaxial polydactyly	A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
HP:0100259	Postaxial polydactyly	A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
HP:0100260	Mesoaxial polydactyly	The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.
HP:0100261	Abnormal tendon morphology	An abnormality of the structure or form of the tendons, also often called sinews.
HP:0100262	Synostosis involving digits	
HP:0100263	Distal symphalangism	
HP:0100264	Proximal symphalangism	
HP:0100265	Synostosis of metacarpals/metatarsals	
HP:0100266	Synostosis of carpals/tarsals	The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.
HP:0100267	Lip pit	A depression located on a lip.
HP:0100268	Upper lip pit	Depression located on the vermilion of the upper lip, usually paramedian.
HP:0100269	Paramedian lip pit	Depression located paramedially on the vermilion of a lip.
HP:0100270	Abnormality of dorsoventral patterning of the limbs	An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.
HP:0100271	Hyponasal speech	Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.
HP:0100272	Branchial sinus	A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.
HP:0100273	Neoplasm of the colon	
HP:0100274	Gustatory lacrimation	Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.
HP:0100275	Diffuse cerebellar atrophy	Diffuse unlocalised atrophy affecting the cerebellum.
HP:0100276	Skin pit	A small, skin-lined tract that leads from the surface to deep within the tissues.
HP:0100277	Periauricular skin pits	Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.
HP:0100279	Ulcerative colitis	A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
HP:0100280	Crohn's disease	A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
HP:0100281	Chronic colitis	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).
HP:0100282	Acute colitis	An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).
HP:0100283	EMG: continuous motor unit activity at rest	Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.
HP:0100284	EMG: myotonic discharges	High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.
HP:0100285	EMG: impaired neuromuscular transmission	An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).
HP:0100287	EMG: slow motor conduction	The presence of reduced conduction velocity of motor nerves on electromyography.
HP:0100288	EMG: myokymic discharges	The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.
HP:0100289	Abnormality of pattern reversal visual evoked potentials	
HP:0100290	Abnormality of peripheral somatosensory evoked potentials	
HP:0100291	Abnormality of central somatosensory evoked potentials	
HP:0100292	Amyloidosis of peripheral nerves	The presence of amyloid deposition in the nerves of the peripheral nervous system.
HP:0100293	Hypertrophied muscle fibers	The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.
HP:0100295	Muscle fiber atrophy	
HP:0100296	Perifascicular muscle fiber atrophy	
HP:0100297	Increased endomysial connective tissue	An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.
HP:0100298	Motheaten muscle fibers	
HP:0100299	Muscle fiber inclusion bodies	
HP:0100300	Desmin bodies	
HP:0100301	Muscle fiber tubular inclusions	Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.
HP:0100302	Muscle fiber tubuloreticular inclusions	
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.
HP:0100304	Muscle fiber intranuclear inclusion bodies	The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.
HP:0100305	Ring fibers	Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.
HP:0100306	Muscle fiber hyaline bodies	
HP:0100307	Cerebellar hemisphere hypoplasia	
HP:0100308	Cerebral cortical hemiatrophy	Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.
HP:0100309	Subdural hemorrhage	Hemorrhage occurring between the dura mater and the arachnoid mater.
HP:0100310	Epidural hemorrhage	Hemorrhage occurring between the dura mater and the skull.
HP:0100311	Cerebral ventricular adhesions	Bands of scar-like tisssue that hve formed within a cerebral ventricle.
HP:0100312	Cerebral germinoma	The presence of a germ cell tumor of the cerebrum.
HP:0100313	Cerebral granulomatosis	Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.
HP:0100314	Cerebral inclusion bodies	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.
HP:0100315	Lewy bodies	
HP:0100316	Hirano bodies	Intracellular aggregates of actin and actin-associated proteins within nerve cells.
HP:0100317	Argyrophilic inclusion bodies	Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.
HP:0100318	Lafora bodies	An intraneuronal inclusion body composed of acid mucopolysaccharides.
HP:0100319	Cerebral hyaline bodies	Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.
HP:0100320	Rosenthal fibers	Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.
HP:0100321	Abnormal dentate nucleus morphology	An abnormality of the dentate nucleus.
HP:0100322	Aplasia of the pyramidal tract	
HP:0100323	Juvenile aseptic necrosis	Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.
HP:0100324	Scleroderma	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
HP:0100326	Immunologic hypersensitivity	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.
HP:0100327	Cow milk allergy	Hypersensitivity in form of an adverse immune reaction against cow milk protein.
HP:0100328	Carpometacarpal synostosis	Fusion involving carpal and metacarpal bones.
HP:0100329	Tarsometatarsal synostosis	
HP:0100333	Unilateral cleft lip	A non-midline cleft of the upper lip on one side only.
HP:0100334	Unilateral cleft palate	
HP:0100335	Non-midline cleft lip	Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
HP:0100336	Bilateral cleft lip	A non-midline cleft of the upper lip on the left and right sides.
HP:0100337	Bilateral cleft palate	Nonmidline cleft palate on the left and right sides.
HP:0100338	Non-midline cleft palate	
HP:0100339	Abnormality of the os naviculare pedis	
HP:0100340	Fibular deviation of the 4th toe	
HP:0100341	Tibial deviation of the 4th toe	
HP:0100342	Fibular deviation of the 3rd toe	
HP:0100343	Tibial deviation of the 3rd toe	
HP:0100344	Fibular deviation of the 2nd toe	
HP:0100345	Tibial deviation of the 2nd toe	
HP:0100346	Fibular deviation of the 5th toe	
HP:0100347	Tibial deviation of the 5th toe	
HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.
HP:0100349	Contracture of the proximal interphalangeal joint of the 3rd toe	The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.
HP:0100350	Contracture of the proximal interphalangeal joint of the 4th toe	The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.
HP:0100351	Contractures of the proximal interphalangeal joint of the 5th toe	The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.
HP:0100352	Contracture of the distal interphalangeal joint of the 2nd toe	The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.
HP:0100353	Contracture of the distal interphalangeal joint of the 3rd toe	The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.
HP:0100354	Contracture of the distal interphalangeal joint of the 4th toe	The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.
HP:0100355	Contractures of the distal interphalangeal joint of the 5th toe	The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.
HP:0100356	Contracture of the metatarsophalangeal joint of the 2nd toe	The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.
HP:0100357	Contracture of the metatarsophalangeal joint of the 3rd toe	The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively.
HP:0100358	Contracture of the metatarsophalangeal joint of the 4th toe	The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.
HP:0100359	Contracture of the metatarsophalangeal joint of the 5th toe	The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.
HP:0100360	Upper-limb joint contracture	A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
HP:0100362	Aplasia of the phalanges of the 3rd toe	
HP:0100363	Aplasia of the phalanges of the 4th toe	
HP:0100364	Aplasia of the phalanges of the 5th toe	
HP:0100366	Short phalanx of the 3rd toe	Developmental hypoplasia of the phalanx of third toe.
HP:0100367	Short phalanx of the 4th toe	Developmental hypoplasia of one or more phalanx of fourth toe.
HP:0100368	Short phalanx of the 5th toe	Developmental hypoplasia of one or more phalanx of little toe.
HP:0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	
HP:0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe	
HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	
HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	
HP:0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe	
HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	
HP:0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.
HP:0100376	Aplasia/hypoplasia of the proximal phalanx of the 4th toe	Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.
HP:0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.
HP:0100378	Absent distal phalanx of the 3rd toe	Developmental aplasia of the distal phalanx of third toe.
HP:0100379	Aplasia of the distal phalanx of the 4th toe	
HP:0100380	Aplasia of the distal phalanx of the 5th toe	
HP:0100381	Absent middle phalanx of the 3rd toe	Developmental aplasia of the middle phalanx of third toe.
HP:0100382	Aplasia of the middle phalanx of the 4th toe	
HP:0100383	Aplasia of the middle phalanx of the 5th toe	
HP:0100384	Absent proximal phalanx of the 3rd toe	Absence of proximal phalanx of third toe, owing to a congenital defect of development.
HP:0100385	Aplasia of the proximal phalanx of the 4th toe	
HP:0100386	Aplasia of the proximal phalanx of the 5th toe	
HP:0100387	Aplasia of the middle phalanges of the toes	
HP:0100388	Aplasia of the proximal phalanges of the toes	
HP:0100389	Short distal phalanx of the 3rd toe	Developmental hypoplasia of the distal phalanx of third toe.
HP:0100390	Short distal phalanx of the 4th toe	Developmental hypoplasia of the distal phalanx of fourth toe.
HP:0100391	Short distal phalanx of the 5th toe	Developmental hypoplasia of the distal phalanx of little toe.
HP:0100392	Short middle phalanx of the 3rd toe	Developmental hypoplasia of the middle phalanx of third toe.
HP:0100393	Short middle phalanx of the 4th toe	Developmental hypoplasia of the middle phalanx of fourth toe.
HP:0100394	Short middle phalanx of the 5th toe	Developmental hypoplasia of the middle phalanx of the 5th toe.
HP:0100395	Short proximal phalanx of the 3rd toe	Abnormal reduction in length of proximal phalanx of third toe.
HP:0100396	Short proximal phalanx of the 4th toe	Developmental hypoplasia of the proximal phalanx of fourth toe.
HP:0100397	Short proximal phalanx of the 5th toe	Developmental hypoplasia of the proximal phalanx of fifth toe.
HP:0100398	Duplication of the distal phalanx of the 3rd toe	Partial or complete duplication of distal phalanx of third toe.
HP:0100399	Duplication of the distal phalanx of the 4th toe	Partial or complete duplication of the distal phalanx of fourth toe.
HP:0100400	Duplication of the distal phalanx of the 5th toe	Partial or complete duplication of the distal phalanx of little toe.
HP:0100401	Duplication of the middle phalanx of the 3rd toe	Partial or complete duplication of middle phalanx of third toe.
HP:0100402	Duplication of the middle phalanx of the 4th toe	Partial or complete duplication of middle phalanx of fourth toe.
HP:0100403	Duplication of the middle phalanx of the 5th toe	Partial or complete duplication of the middle phalanx of the 5th toe.
HP:0100404	Duplication of the proximal phalanx of the 3rd toe	Partial or complete duplication of proximal phalanx of third toe.
HP:0100405	Duplication of the proximal phalanx of the 4th toe	Partial or complete duplication of the proximal phalanx of fourth toe.
HP:0100406	Duplication of the proximal phalanx of the 5th toe	Partial or complete duplication of the proximal phalanx of fifth toe.
HP:0100407	Complete duplication of the distal phalanx of the 3rd toe	Complete duplication of distal phalanx of third toe.
HP:0100408	Complete duplication of the distal phalanx of the 4th toe	Complete duplication of the distal phalanx of fourth toe.
HP:0100409	Complete duplication of the distal phalanx of the 5th toe	Complete duplication of the distal phalanx of little toe.
HP:0100410	Complete duplication of the middle phalanx of the 3rd toe	Complete duplication of middle phalanx of third toe.
HP:0100411	Complete duplication of the middle phalanx of the 4th toe	Complete duplication of middle phalanx of fourth toe.
HP:0100412	Complete duplication of the middle phalanx of the 5th toe	Complete duplication of the middle phalanx of the 5th toe.
HP:0100413	Complete duplication of the proximal phalanx of the 3rd toe	Complete duplication of proximal phalanx of third toe.
HP:0100414	Complete duplication of the proximal phalanx of the 4th toe	
HP:0100415	Complete duplication of the proximal phalanx of the 5th toe	Complete duplication of the proximal phalanx of fifth toe.
HP:0100416	Partial duplication of the distal phalanx of the 3rd toe	Partial duplication of distal phalanx of third toe.
HP:0100417	Partial duplication of the distal phalanx of the 4th toe	Partial duplication of the distal phalanx of fourth toe.
HP:0100418	Partial duplication of the distal phalanx of the 5th toe	Partial duplication of the distal phalanx of little toe.
HP:0100419	Partial duplication of the middle phalanx of the 3rd toe	Partial duplication of middle phalanx of third toe.
HP:0100420	Partial duplication of the middle phalanx of the 4th toe	Partial duplication of middle phalanx of fourth toe.
HP:0100421	Partial duplication of the middle phalanx of the 5th toe	Partial duplication of the middle phalanx of the 5th toe.
HP:0100422	Partial duplication of the proximal phalanx of the 3rd toe	Partial duplication of proximal phalanx of third toe.
HP:0100423	Partial duplication of the proximal phalanx of the 4th toe	
HP:0100424	Partial duplication of the proximal phalanx of the 5th toe	Partial duplication of the proximal phalanx of fifth toe.
HP:0100425	Broad middle phalanx of the 3rd toe	
HP:0100426	Broad middle phalanx of the 4th toe	
HP:0100427	Broad middle phalanx of the 5th toe	
HP:0100428	Broad proximal phalanx of the 3rd toe	
HP:0100429	Broad proximal phalanx of the 4th toe	
HP:0100430	Broad proximal phalanx of the 5th toe	
HP:0100431	Broad distal phalanx of the 3rd toe	
HP:0100432	Broad distal phalanx of the 4th toe	
HP:0100433	Broad distal phalanx of the 5th toe	
HP:0100434	Bullet-shaped middle phalanx of the 3rd toe	An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100435	Bullet-shaped middle phalanx of the 4th toe	An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100436	Bullet-shaped middle phalanx of the 5th toe	An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100437	Bullet-shaped proximal phalanx of the 3rd toe	An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100438	Bullet-shaped proximal phalanx of the 4th toe	An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100439	Bullet-shaped proximal phalanx of the 5th toe	An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100440	Bullet-shaped distal phalanx of the 3rd toe	An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100441	Bullet-shaped distal phalanx of the 4th toe	An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100442	Bullet-shaped distal phalanx of the 5th toe	An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0100443	Curved middle phalanx of the 3rd toe	A deviation from the normal straight form of the middle phalanx of the third toe.
HP:0100444	Curved middle phalanx of the 4th toe	A deviation from the normal straight form of the middle phalanx of the fourth toe.
HP:0100445	Curved middle phalanx of the 5th toe	A deviation from the normal straight form of the middle phalanx of the fifth toe.
HP:0100446	Curved proximal phalanx of the 3rd toe	A deviation from the normal straight form of the proximal phalanx of the third toe.
HP:0100447	Curved proximal phalanx of the 4th toe	A deviation from the normal straight form of the proximal phalanx of the fourth toe.
HP:0100448	Curved proximal phalanx of the 5th toe	A deviation from the normal straight form of the proximal phalanx of the fifth toe.
HP:0100449	Curved distal phalanx of the 3rd toe	A deviation from the normal straight form of the distal phalanx of the third toe.
HP:0100450	Curved distal phalanx of the 4th toe	A deviation from the normal straight form of the distal phalanx of the fourth toe.
HP:0100451	Curved distal phalanx of the 5th toe	A deviation from the normal straight form of the distal phalanx of the fifth toe.
HP:0100452	Osteolytic defects of the middle phalanx of the 3rd toe	
HP:0100453	Osteolytic defects of the middle phalanx of the 4th toe	
HP:0100454	Osteolytic defects of the middle phalanx of the 5th toe	
HP:0100455	Osteolytic defects of the proximal phalanx of the 3rd toe	
HP:0100456	Osteolytic defects of the proximal phalanx of the 4th toe	
HP:0100457	Osteolytic defects of the proximal phalanx of the 5th toe	
HP:0100458	Osteolytic defects of the distal phalanx of the 3rd toe	
HP:0100459	Osteolytic defects of the distal phalanx of the 4th toe	
HP:0100460	Osteolytic defects of the distal phalanx of the 5th toe	
HP:0100461	Patchy sclerosis of the middle phalanx of the 3rd toe	
HP:0100462	Patchy sclerosis of the middle phalanx of the 4th toe	Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0100463	Patchy sclerosis of the middle phalanx of the 5th toe	Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0100464	Patchy sclerosis of the proximal phalanx of the 3rd toe	
HP:0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0100466	Patchy sclerosis of the proximal phalanx of the 5th toe	Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0100467	Patchy sclerosis of the distal phalanx of the 3rd toe	
HP:0100468	Patchy sclerosis of the distal phalanx of the 4th toe	Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0100469	Patchy sclerosis of the distal phalanx of the 5th toe	Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
HP:0100470	Symphalangism affecting the middle phalanx of the 3rd toe	
HP:0100471	Symphalangism affecting the middle phalanx of the 4th toe	
HP:0100472	Symphalangism affecting the middle phalanx of the 5th toe	
HP:0100473	Symphalangism affecting the proximal phalanx of the 3rd toe	
HP:0100474	Symphalangism affecting the proximal phalanx of the 4th toe	
HP:0100475	Symphalangism affecting the proximal phalanx of the 5th toe	
HP:0100476	Symphalangism affecting the distal phalanx of the 3rd toe	
HP:0100477	Symphalangism affecting the distal phalanx of the 4th toe	
HP:0100478	Symphalangism affecting the distal phalanx of the 5th toe	
HP:0100480	Proximal/middle symphalangism of 3rd toe	Bony fusion of the middle and proximal phalanges of the 3rd toe.
HP:0100481	Proximal/middle symphalangism of 4th toe	Bony fusion of the middle and proximal phalanges of the 4th toe.
HP:0100482	Proximal/middle symphalangism of 5th toe	Bony fusion of the middle and proximal phalanges of the 5th toe.
HP:0100483	Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal	
HP:0100484	Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal	
HP:0100485	Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal	
HP:0100486	Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal	
HP:0100487	Triangular shaped distal phalanx of the 5th toe	
HP:0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	
HP:0100489	Proximal/middle symphalangism of 2nd toe	Bony fusion of the middle and proximal phalanges of the 2nd toe.
HP:0100490	Camptodactyly of finger	The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
HP:0100491	Abnormality of lower limb joint	
HP:0100493	Hypoammonemia	A decreased concentration of ammonia in the blood.
HP:0100494	Abnormal mast cell morphology	Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.
HP:0100495	Mastocytosis	The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.
HP:0100496	Abnormality of the vitamin B3 metabolism	
HP:0100497	Vitamin B3 deficiency	
HP:0100498	Deviation of toes	
HP:0100499	Tibial deviation of toes	
HP:0100500	Fibular deviation of toes	
HP:0100501	Recurrent bronchiolitis	An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.
HP:0100502	Vitamin B12 deficiency	
HP:0100503	Low levels of vitamin B1	A reduced concentration of vitamin B1.
HP:0100504	Low levels of vitamin B2	A reduced concentration of vitamin B2.
HP:0100505	Low levels of vitamin B5	A reduced concentration of vitamin B5.
HP:0100506	Low levels of vitamin B8	A reduced concentration of vitamin B8.
HP:0100507	Reduced blood folate concentration	A reduced circulating concentration of folic acid, which is also known as vitamin B9.
HP:0100508	Abnormality of vitamin metabolism	An anomaly in the metabolism of a vitamin.
HP:0100509	Abnormality of vitamin C metabolism	
HP:0100510	Low levels of vitamin C	A reduced concentration of Vitamin C.
HP:0100511	Abnormality of vitamin D metabolism	
HP:0100512	Low levels of vitamin D	A reduced concentration of Vitamin D.
HP:0100513	Low levels of vitamin E	A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.
HP:0100514	Abnormality of vitamin E metabolism	
HP:0100515	Pollakisuria	Increased frequency of urination.
HP:0100516	Neoplasm of the ureter	The presence of a neoplasm of the ureter.
HP:0100517	Neoplasm of the urethra	The presence of a neoplasm of the urethra.
HP:0100518	Dysuria	Painful or difficult urination.
HP:0100519	Anuria	Absence of urine, clinically classified as below 50ml/day.
HP:0100520	Oliguria	Low output of urine, clinically classified as an output below 300-500ml/day.
HP:0100521	Neoplasm of the thymus	A tumor (abnormal growth of tissue) of the thymus.
HP:0100522	Thymoma	A tumor originating from the epithelial cells of the thymus.
HP:0100523	Liver abscess	The presence of an abscess of the liver.
HP:0100524	Limb duplication	Congenital duplication of all or part of a limb.
HP:0100525	Urachus fistula	Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.
HP:0100526	Neoplasm of the lung	Tumor of the lung.
HP:0100527	Neoplasia of the pleura	
HP:0100528	Pleuropulmonary blastoma	A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.
HP:0100529	Abnormal blood phosphate concentration	An abnormality of phosphate homeostasis or concentration in the body.
HP:0100530	Abnormal calcium-phosphate regulating hormone level	Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.
HP:0100531	Wind-swept deformity of the knees	The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.
HP:0100532	Scleritis	Inflammation of the sclera.
HP:0100533	Inflammatory abnormality of the eye	Inflammation of the eye, parts of the eye or the periorbital region.
HP:0100534	Episcleritis	Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.
HP:0100535	Tibiofibular diastasis	
HP:0100536	Abnormality of the fascia	An abnormality of fascia.
HP:0100537	Fasciitis	Inflammation of fascia, the tissue under the skin and over the muscle.
HP:0100538	Abnormality of the supraorbital ridges	An anomaly of the supraorbital portion of the frontal bones.
HP:0100539	Periorbital edema	Edema affecting the region situated around the orbit of the eye.
HP:0100540	Palpebral edema	Edema in the region of the eyelids.
HP:0100541	Femoral hernia	A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.
HP:0100542	Abnormal localization of kidney	An abnormal site of the kidney.
HP:0100543	Cognitive impairment	Abnormal cognition with deficits in thinking, reasoning, or remembering.
HP:0100544	Neoplasm of the heart	A tumor (abnormal growth of tissue) of the heart.
HP:0100545	Arterial stenosis	Narrowing or constriction of the inner surface (lumen) of an artery.
HP:0100546	Carotid artery stenosis	Narrowing of the carotid arteries.
HP:0100547	Abnormal forebrain morphology	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.
HP:0100548	Exstrophy	Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.
HP:0100550	Tendon rupture	Breakage (tear) of a tendon.
HP:0100551	Neoplasm of the trachea	A neoplasm of the trachea.
HP:0100552	Neoplasm of the tracheobronchial system	
HP:0100553	Hemihypertrophy of lower limb	Overgrowth of only one leg.
HP:0100554	Hemihypertrophy of upper limb	Overgrowth of only one arm.
HP:0100555	Asymmetric growth	A growth pattern that displays an abnormal difference between the left and the right side.
HP:0100556	Hemiatrophy	Undergrowth of the limbs that affects only one side.
HP:0100557	Hemiatrophy of lower limb	Unilateral atrophy (reduction in size) of a leg.
HP:0100558	Hemiatrophy of upper limb	Unilateral atrophy (reduction in size) of an arm.
HP:0100559	Lower limb asymmetry	A difference in length or diameter between the left and right leg.
HP:0100560	Upper limb asymmetry	Difference in length or size between the right and left arm.
HP:0100561	Spinal cord lesion	
HP:0100562	Diplomyelia	Duplication of the spinal cord.
HP:0100563	Diastomatomyelia	Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.
HP:0100564	Triplomyelia	Triplication of the spinal cord - extremely rare.
HP:0100565	Hydromyelia	Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.
HP:0100566	Amyelia	Congenital absence of the spinal cord.
HP:0100568	Neoplasm of the endocrine system	A tumor (abnormal growth of tissue) of the endocrine system.
HP:0100569	Abnormally ossified vertebrae	An abnormality of the formation and mineralization of one or more vertebrae.
HP:0100570	Carcinoid tumor	A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.
HP:0100571	Cardiac diverticulum	A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.
HP:0100572	Fibrous cardiac diverticulum	A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.
HP:0100573	Muscular cardiac diverticulum	
HP:0100574	Biliary tract neoplasm	A tumor (abnormal growth of tissue) of the biliary system.
HP:0100575	Neoplasm of the gallbladder	The presence of a neoplasm of the gallbladder.
HP:0100576	Amaurosis fugax	A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
HP:0100577	Urinary bladder inflammation	Inflammation of the urinary bladder.
HP:0100578	Lipoatrophy	Localized loss of fat tissue.
HP:0100579	Mucosal telangiectasiae	Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.
HP:0100580	Barrett esophagus	An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.
HP:0100581	Dilatation of renal calices	An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.
HP:0100582	Nasal polyposis	Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
HP:0100583	Corneal perforation	A rupture of the cornea through which a portion of the iris protrudes.
HP:0100584	Endocarditis	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.
HP:0100585	Telangiectasia of the skin	Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
HP:0100586	Sterile pyuria	Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.
HP:0100587	Abnormal preputium morphology	An abnormality of the retractable fold of skin that covers the tip of the penis.
HP:0100588	Paraphimosis	The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.
HP:0100589	Urogenital fistula	The presence of a fistula affecting the genitourinary system.
HP:0100590	Rectal fistula	The presence of a fistula affecting the rectum.
HP:0100592	Peritoneal abscess	The presence of an abscess of the peritoneum.
HP:0100593	Calcification of cartilage	The presence of calcium deposition in cartilage.
HP:0100594	Esophageal web	Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).
HP:0100595	Camptocormia	An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.
HP:0100596	Absent nares	The nostrils (the paired channels of the nose) are not present.
HP:0100598	Pulmonary edema	Fluid accumulation in the lungs.
HP:0100599	Bifid penis	Two penile structures, separated from the tip to the base of the shaft.
HP:0100600	Penoscrotal transposition	A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.
HP:0100601	Eclampsia	An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.
HP:0100602	Preeclampsia	Pregnancy-induced hypertension in association with significant amounts of protein in the urine.
HP:0100603	Toxemia of pregnancy	Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.
HP:0100604	Neoplasm of the lip	A tumor (abnormal growth of tissue) of the lip.
HP:0100605	Neoplasm of the larynx	
HP:0100606	Neoplasm of the respiratory system	A tumor (abnormal growth of tissue) of the respiratory system.
HP:0100607	Dysmenorrhea	Pain during menstruation that interferes with daily activities.
HP:0100608	Metrorrhagia	Bleeding at irregular intervals.
HP:0100610	Maternal hyperphenylalaninemia	A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.
HP:0100611	Multiple glomerular cysts	The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.
HP:0100612	Odontogenic neoplasm	Neoplasm involving odontogenic cells, an odontogenic tumor.
HP:0100613	Death in early adulthood	Death between the age of 16 and 40 years.
HP:0100614	Myositis	A general term for inflammation of the muscles without respect to the underlying cause.
HP:0100615	Ovarian neoplasm	A tumor (abnormal growth of tissue) of the ovary.
HP:0100616	Testicular teratoma	The presence of a teratoma of the testis.
HP:0100617	Testicular seminoma	The presence of a seminoma, an undifferentiated germ cell tumor of the testis.
HP:0100618	Leydig cell neoplasia	The presence of a neoplasm of the testis with origin in a Leydig cell.
HP:0100619	Sertoli cell neoplasm	The presence of a neoplasm of the testis with origin in a Sertoli cell.
HP:0100620	Germinoma	A type of undifferentiated germ cell tumor that may be benign or malignant.
HP:0100621	Dysgerminoma	The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
HP:0100622	Maternal seizure	A seizure during pregnancy.
HP:0100623	Abnormal corpus cavernosum morphology	A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.
HP:0100624	Corpus cavernosum sclerosis	
HP:0100625	Enlarged thorax	
HP:0100626	Chronic hepatic failure	
HP:0100627	Displacement of the urethral meatus	A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
HP:0100628	Esophageal diverticulum	The presence of a diverticulum of the esophagus.
HP:0100629	Midline facial cleft	A congenital malformation with a cleft (gap or opening) in the midline of the face.
HP:0100630	Neoplasia of the nasopharynx	
HP:0100631	Neoplasm of the adrenal gland	A tumor (abnormal growth of tissue) of the adrenal gland.
HP:0100632	Pulmonary sequestration	The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).
HP:0100633	Esophagitis	Inflammation of the esophagus.
HP:0100634	Neuroendocrine neoplasm	A tumor that originates from a neuroendocrine cell.
HP:0100635	Carotid paraganglioma	A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.
HP:0100636	Pulmonary paraglioma	A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.
HP:0100638	Neoplasm of the pharynx	A neoplasm originating in the pharynx.
HP:0100639	Erectile dysfunction	A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.
HP:0100640	Laryngeal cyst	Presence of a cyst (sac-like structure) located in the larynx.
HP:0100641	Neoplasm of the adrenal cortex	The presence of a neoplasm of the adrenal cortex.
HP:0100642	Neoplasm of the adrenal medulla	The presence of a neoplasm of the adrenal medulla.
HP:0100643	Abnormality of nail color	An anomaly of the color of the nail.
HP:0100644	Melanonychia	Brown or black discoloration of the nails.
HP:0100645	Cystocele	Anterior vaginal wall prolapse with bulging of the bladder into the vagina.
HP:0100646	Thyroiditis	Inflammation of the thyroid gland.
HP:0100647	Graves disease	An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.
HP:0100648	Neoplasm of the tongue	A tumor (abnormal growth of tissue) of the tongue.
HP:0100649	Neoplasm of the oral cavity	A tumor (abnormal growth of tissue) of the oral cavity.
HP:0100650	Vaginal neoplasm	A tumor (abnormal growth of tissue) of the vagina.
HP:0100651	Type I diabetes mellitus	A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
HP:0100653	Optic neuritis	Inflammation of the optic nerve.
HP:0100654	Retrobulbar optic neuritis	Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.
HP:0100656	Thoracoabdominal wall defect	Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.
HP:0100657	Thoracoabdominal eventration	Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.
HP:0100658	Cellulitis	A bacterial infection and inflammation of the skin und subcutaneous tissues.
HP:0100659	Abnormal cerebral vascular morphology	An anomaly of the cerebral blood vessels.
HP:0100660	Dyskinesia	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
HP:0100661	Trigeminal neuralgia	A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.
HP:0100662	Chondritis	Inflammation of cartilage.
HP:0100663	Synotia	A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.
HP:0100665	Angioedema	Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
HP:0100668	Intestinal duplication	A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.
HP:0100669	Abnormal pigmentation of the oral mucosa	An abnormality of the pigmentation of the mucosa of the mouth.
HP:0100670	Coarse metaphyseal trabecularization	Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.
HP:0100671	Abnormal trabecular bone morphology	Abnormal structure or form of trabecular bone.
HP:0100672	Vaginal hernia	The presence of a hernia of the vagina.
HP:0100673	Vaginal hydrocele	A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.
HP:0100674	Vaginal hematocele	
HP:0100675	Vaginal pyocele	
HP:0100676	Vaginal lymphocele	
HP:0100677	Vulval varicose vein	Varicosity of veins in the vulval region.
HP:0100678	Premature skin wrinkling	The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
HP:0100679	Lack of skin elasticity	
HP:0100681	Esophageal duplication	A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.
HP:0100682	Tracheal atresia	A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.
HP:0100684	Salivary gland neoplasm	A tumor (abnormal growth of tissue) of a salivary gland.
HP:0100685	Abnormal Sharpey fiber morphology	An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.
HP:0100686	Enthesitis	
HP:0100687	Polyotia	The presence of an extra auricle on one or both sides of the head.
HP:0100689	Decreased corneal thickness	A decreased anteroposterior thickness of the cornea.
HP:0100690	Mosaic central corneal dystrophy	
HP:0100691	Abnormality of the curvature of the cornea	
HP:0100692	Increased corneal curvature	An increase in the degree of curvature of the cornea compared to normal.
HP:0100693	Iridodonesis	Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.
HP:0100694	Tibial torsion	Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.
HP:0100695	Lipedema	Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .
HP:0100697	Neurofibrosarcoma	A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.
HP:0100698	Subcutaneous neurofibromas	The presence of Neurofibromas in the subcutis.
HP:0100699	Scarring	A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.
HP:0100700	Abnormal arachnoid mater morphology	An abnormality of the Arachnoid mater.
HP:0100701	Abnormal pia mater	An abnormality of the pia mater.
HP:0100702	Arachnoid cyst	An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
HP:0100703	Tongue thrusting	Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns
HP:0100704	Cerebral visual impairment	A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
HP:0100705	Abnormal glial cell morphology	An abnormality of the glia cell.
HP:0100706	Abnormal oligodendroglia morphology	One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.
HP:0100707	Abnormal astrocyte morphology	An abnormality of astrocytes.
HP:0100708	Abnormal microglia morphology	An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.
HP:0100709	Reduction of oligodendroglia	
HP:0100710	Impulsivity	Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.
HP:0100711	Abnormal thoracic spine morphology	An abnormality of the thoracic vertebral column.
HP:0100712	Abnormal lumbar spine morphology	Any structural abnormality of the lumbar vertebral column.
HP:0100716	Self-injurious behavior	Aggression towards oneself.
HP:0100717	Abnormal cementum morphology	Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).
HP:0100718	Uterine rupture	
HP:0100719	Lens coloboma	A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.
HP:0100720	Hypoplasia of the ear cartilage	
HP:0100721	Mediastinal lymphadenopathy	Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
HP:0100723	Gastrointestinal stroma tumor	
HP:0100724	Hypercoagulability	An abnormality of coagulation associated with an increased risk of thrombosis.
HP:0100725	Lichenification	Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
HP:0100726	Kaposi's sarcoma	A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).
HP:0100727	Histiocytosis	An excessive number of histiocytes (tissue macrophages).
HP:0100728	Germ cell neoplasia	
HP:0100729	Large face	
HP:0100730	Bronchogenic cyst	A rare congenital cystic lesion of the lungs in the mediastinum.
HP:0100731	Transverse facial cleft	A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.
HP:0100732	Pancreatic fibrosis	
HP:0100733	Neoplasm of the parathyroid gland	A tumor (abnormal growth of tissue) of the parathyroid gland.
HP:0100734	Abnormality of vertebral epiphysis morphology	An anomaly of one or more epiphyses of one or more vertebrae.
HP:0100735	Hypertensive crisis	
HP:0100736	Abnormal soft palate morphology	An abnormality of the soft palate.
HP:0100737	Abnormal hard palate morphology	
HP:0100738	Abnormal eating behavior	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
HP:0100739	Bulimia	A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).
HP:0100742	Vascular neoplasm	A benign or malignant neoplasm (tumor) originating in the vascular system.
HP:0100743	Neoplasm of the rectum	
HP:0100744	Abnormality of the humeroradial joint	
HP:0100745	Abnormality of the humeroulnar joint	An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.
HP:0100746	Macrodactyly of finger	A type of Macrodactyly affecting one or several fingers.
HP:0100747	Macrodactyly of toe	A type of Macrodactyly affecting one or several toes.
HP:0100748	Muscular edema	
HP:0100749	Chest pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
HP:0100750	Atelectasis	Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0100751	Esophageal neoplasm	A tumor (abnormal growth of tissue) of the esophagus.
HP:0100752	Abnormal liver lobulation	Formation of abnormal lobules (small masses of tissue) in the liver.
HP:0100753	Schizophrenia	A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.
HP:0100754	Mania	A state of abnormally elevated or irritable mood, arousal, and or energy levels.
HP:0100755	Abnormality of salivation	
HP:0100757	Pancreatoblastoma	A rare pediatric carcinoma of the pancreas.
HP:0100758	Gangrene	A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
HP:0100759	Clubbing of fingers	Terminal broadening of the fingers (distal phalanges of the fingers).
HP:0100760	Clubbing of toes	Terminal broadening of the toes (distal phalanges of the toes).
HP:0100761	Visceral angiomatosis	
HP:0100762	Hemobilia	Bleeding into the biliary tree.
HP:0100763	Abnormality of the lymphatic system	An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
HP:0100764	Lymphangioma	Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.
HP:0100765	Abnormality of the tonsils	An abnormality of the tonsils.
HP:0100766	Abnormal lymphatic vessel morphology	A structural anomaly of the vessel that contains or conveys lymph fluid.
HP:0100767	Abnormal placenta morphology	An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.
HP:0100768	Choriocarcinoma	A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.
HP:0100769	Synovitis	
HP:0100770	Hyperperistalsis	Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.
HP:0100771	Hypoperistalsis	Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
HP:0100773	Cartilage destruction	
HP:0100774	Hyperostosis	Excessive growth or abnormal thickening of bone tissue.
HP:0100775	Dural ectasia	A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
HP:0100776	Recurrent pharyngitis	An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.
HP:0100777	Exostoses	An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
HP:0100778	Cryoglobulinemia	Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.
HP:0100779	Urogenital sinus anomaly	A rare birth defect in women where the urethra and vagina both open into a common channel.
HP:0100780	Conjunctival hamartoma	A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.
HP:0100781	Abnormal sacroiliac joint morphology	An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).
HP:0100783	Breast aplasia	Failure to develop and congenital absence of the breast.
HP:0100784	Peripheral arteriovenous fistula	
HP:0100785	Insomnia	Persistent difficulty initiating or maintaining sleep.
HP:0100786	Hypersomnia	
HP:0100787	Prostate neoplasm	
HP:0100788	Fused lips	Lack of separation of the upper and lower lips.
HP:0100789	Torus palatinus	A bony protrusion present on the midline of the hard palate.
HP:0100790	Hernia	
HP:0100792	Acantholysis	The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
HP:0100795	Abnormally straight spine	The absence of the normal curvature of the vertebral column.
HP:0100796	Orchitis	Testicular inflammation.
HP:0100797	Toenail dysplasia	An abnormality of the development of the toenails.
HP:0100798	Fingernail dysplasia	An abnormality of the development of the fingernails.
HP:0100799	Neoplasm of the middle ear	A tumor (abnormal growth of tissue) of the middle ear.
HP:0100800	Aplasia/Hypoplasia of the pancreas	A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.
HP:0100801	Pancreatic aplasia	Aplasia of the pancreas.
HP:0100802	Malposition of the stomach	Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.
HP:0100803	Abnormality of the periungual region	An abnormality of the region around the nails of the fingers or toes.
HP:0100804	Ungual fibroma	Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).
HP:0100806	Sepsis	Systemic inflammatory response to infection.
HP:0100807	Long fingers	The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
HP:0100808	Gastric diverticulum	An outpouching of the gastric wall.
HP:0100809	Scalp tenderness	Pain or discomfort of the scalp elicited by palpation.
HP:0100810	Pointed helix	
HP:0100811	Aplasia/Hypoplasia of the colon	Congenital absence or underdevelopment of the colon.
HP:0100812	Halitosis	Noticeably unpleasant odors exhaled in breathing.
HP:0100813	Testicular torsion	Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.
HP:0100814	Blue nevus	
HP:0100816	Lip hyperpigmentation	
HP:0100817	Renovascular hypertension	The presence of hypertension related to stenosis of the renal artery.
HP:0100818	Long thorax	Increased inferior to superior extent of the thorax.
HP:0100819	Intestinal fistula	An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.
HP:0100820	Glomerulopathy	Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
HP:0100821	Urethrocele	The prolapse of the female urethra into the vagina.
HP:0100822	Rectocele	A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.
HP:0100823	Genital hernia	
HP:0100825	Cheilitis	Inflammation of the lip.
HP:0100826	Neoplasm of the nail	A tumor (abnormal growth of tissue) of the nail.
HP:0100827	Lymphocytosis	Increase in the number or proportion of lymphocytes in the blood.
HP:0100828	Increased T cell count	An abnormal increase in the total number of T cells detected in the blood.
HP:0100829	Galactorrhea	Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.
HP:0100830	Round ear	
HP:0100831	Abnormality of vitamin K metabolism	Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.
HP:0100832	Vitreous floaters	Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.
HP:0100833	Neoplasm of the small intestine	The presence of a neoplasm of the small intestine.
HP:0100834	Neoplasm of the large intestine	The presence of a neoplasm of the large intestine.
HP:0100835	Benign neoplasm of the central nervous system	
HP:0100836	Malignant neoplasm of the central nervous system	A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.
HP:0100837	Atrophodermia vermiculata	Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.
HP:0100838	Recurrent cutaneous abscess formation	An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
HP:0100839	Hepatic agenesis	Absence of the liver owing to a failure of the liver to develop.
HP:0100840	Aplasia/Hypoplasia of the eyebrow	Absence or underdevelopment of the eyebrow.
HP:0100841	Microgastria	A developmental anomaly wtih a small tubular or saccular midline stomach.
HP:0100842	Septo-optic dysplasia	Underdevelopment of the optic nerve and absence of the septum pellucidum.
HP:0100844	Pancreatic fistula	
HP:0100845	Anaphylactic shock	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.
HP:0100847	Palmoplantar pustulosis	A chronic, relapsing, pustular eruption that is localized to the palms and soles.
HP:0100848	Neoplasm of the male external genitalia	A tumor (abnormal growth of tissue) of the male external genitalia.
HP:0100849	Neoplasm of the scrotum	A tumor (abnormal growth of tissue) of the scrotum.
HP:0100850	Neoplasm of the penis	A tumor (abnormal growth of tissue) of the penis.
HP:0100851	Abnormal emotion/affect behavior	An abnormality of emotional behaviour.
HP:0100852	Abnormal fear/anxiety-related behavior	An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
HP:0100853	Hypoplastic areola	Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.
HP:0100854	Aplasia of the musculature	Absence of the musculature.
HP:0100855	Triceps hypoplasia	Hypoplasia of the triceps muscle.
HP:0100856	Poorly ossified vertebrae	Decreased ossification of the vertebral bodies.
HP:0100857	Flat sella turcica	An abnormally flat sella turcica.
HP:0100858	Dilatation of celiac artery	Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.
HP:0100859	Dilatation of superior mesenteric artery	Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .
HP:0100860	Dilatation of Inferior mesenteric artery	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .
HP:0100861	Sclerotic vertebral body	Increase in bone density of the vertebral body.
HP:0100862	Aplasia of the femoral head	
HP:0100863	Aplasia of the femoral neck	
HP:0100864	Short femoral neck	An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
HP:0100865	Broad ischia	Increased width of the ischium, which forms the lower and back part of the hip bone.
HP:0100866	Short iliac bones	Underdevelopment of the iliac bones.
HP:0100867	Duodenal stenosis	The narrowing or partial blockage of a portion of the duodenum.
HP:0100869	Palmar telangiectasia	The presence of telangiectases on the skin of palm of hand.
HP:0100870	Plantar telangiectasia	Telangiectases (small dilated blood vessels) located on the skin of sole of foot.
HP:0100871	Abnormal palm morphology	An abnormality of the palm, that is, of the front of the hand.
HP:0100872	Abnormality of the plantar skin of foot	An abnormality of the plantar part of foot, that is of the soles of the feet.
HP:0100874	Thick hair	Increased density of hairs, i.e., and elevated number of hairs per unit area.
HP:0100875	Hemimacroglossia	Increased length and width of one half of the tounge.
HP:0100876	Infra-orbital crease	Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.
HP:0100877	Renal diverticulum	Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.
HP:0100878	Enlarged uterus	
HP:0100879	Enlarged ovaries	
HP:0100880	Nephrogenic rest	Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.
HP:0100881	Congenital mesoblastic nephroma	Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.
HP:0100882	Fibrous hamartoma	A rare, benign soft tissue tumor that typically occurs within the first two years of life.
HP:0100883	Chorangioma	Hamartoma-like growth in the placenta consisting of blood vessels.
HP:0100884	Compensatory scoliosis	A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.
HP:0100885	Lateral venous anomaly	Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.
HP:0100886	Abnormality of globe location	An abnormality in the placement of the ocular globe (eyeball).
HP:0100887	Abnormality of globe size	An abnormality in the size of the ocular globe (eyeball).
HP:0100888	Interdigital loops	
HP:0100889	Abnormality of the ductus choledochus	An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.
HP:0100890	Cyst of the ductus choledochus	
HP:0100891	Bifid xiphoid process	A cleft of the xiphoid process of the sternum.
HP:0100892	Abnormality of the xiphoid process	An abnormality of the xiphoid process of the sternum.
HP:0100893	Prominent xiphoid process	Increased prominence of the xiphoid process of the sternum.
HP:0100894	Broad xiphoid process	Increased side-to-side width of the xiphoid process of the sternum.
HP:0100896	Rectal polyposis	The presence of multiple rectal hyperplastic/adenomatous polyps.
HP:0100898	Connective tissue nevi	Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.
HP:0100899	Sclerosis of finger phalanx	An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100900	Sclerosis of the distal phalanx of the 2nd finger	
HP:0100901	Sclerosis of the distal phalanx of the 3rd finger	
HP:0100902	Sclerosis of the distal phalanx of the 4th finger	
HP:0100903	Sclerosis of the distal phalanx of the 5th finger	
HP:0100904	Sclerosis of the middle phalanx of the 2nd finger	
HP:0100905	Sclerosis of the middle phalanx of the 3rd finger	
HP:0100906	Sclerosis of the middle phalanx of the 4th finger	
HP:0100907	Sclerosis of the middle phalanx of the 5th finger	
HP:0100908	Sclerosis of the proximal phalanx of the 2nd finger	
HP:0100909	Sclerosis of the proximal phalanx of the 3rd finger	
HP:0100910	Sclerosis of the proximal phalanx of the 4th finger	
HP:0100911	Sclerosis of the proximal phalanx of the 5th finger	
HP:0100912	Sclerosis of the distal phalanx of the thumb	An elevation of bone density in the distal phalanx of the thumb.
HP:0100913	Sclerosis of the proximal phalanx of the thumb	An elevation of bone density in the proximal phalanx of the thumb.
HP:0100914	Sclerosis of the 1st metacarpal	
HP:0100915	Sclerosis of distal finger phalanx	An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100916	Sclerosis of middle finger phalanx	An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100917	Sclerosis of proximal finger phalanx	An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100918	Sclerosis of 2nd finger phalanx	An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100919	Sclerosis of 3rd finger phalanx	An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100920	Sclerosis of 4th finger phalanx	An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100921	Sclerosis of 5th finger phalanx	An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100922	Sclerosis of thumb phalanx	
HP:0100923	Clavicular sclerosis	An increase in bone density within the clavicle.
HP:0100924	Sclerosis of toe phalanx	An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100925	Sclerosis of foot bone	An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100926	Sclerosis of 2nd toe phalanx	An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100927	Sclerosis of 3rd toe phalanx	An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100928	Sclerosis of 4th toe phalanx	An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100929	Sclerosis of 5th toe phalanx	An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100930	Sclerosis of hallux phalanx	An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100931	Sclerosis of the proximal phalanx of the 2nd toe	An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100932	Sclerosis of the proximal phalanx of the 3rd toe	An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100933	Sclerosis of the proximal phalanx of the 4th toe	
HP:0100934	Sclerosis of the proximal phalanx of the 5th toe	
HP:0100935	Sclerosis of the middle phalanx of the 2nd toe	
HP:0100936	Sclerosis of the middle phalanx of the 3rd toe	An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100937	Sclerosis of the middle phalanx of the 4th toe	
HP:0100938	Sclerosis of the middle phalanx of the 5th toe	
HP:0100939	Sclerosis of the distal phalanx of the 2nd toe	
HP:0100940	Sclerosis of the distal phalanx of the 3rd toe	An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100941	Sclerosis of the distal phalanx of the 4th toe	
HP:0100942	Sclerosis of the distal phalanx of the 5th toe	
HP:0100943	Sclerosis of the proximal phalanx of the hallux	
HP:0100944	Sclerosis of the distal phalanx of the hallux	
HP:0100945	Sclerosis of the 1st metatarsal	
HP:0100946	Sclerosis of proximal toe phalanx	An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100947	Sclerosis of middle toe phalanx	An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100948	Sclerosis of distal toe phalanx	An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	
HP:0100951	Enlarged fossa interpeduncularis	
HP:0100952	Enlarged sylvian cistern	An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).
HP:0100953	Enlarged interhemispheric fissure	
HP:0100954	Open operculum	Underdevelopment of the operculum.
HP:0100955	Giant cell granuloma of mandible	
HP:0100957	Abnormal renal medulla morphology	Any structural abnormality of the medulla of the kidney.
HP:0100958	Narrow foramen obturatorium	Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.
HP:0100959	Dense metaphyseal bands	Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.
HP:0100960	Lateral ventricular asymmetry	Abnormal difference in size between the left and right lateral cerebral ventricles.
HP:0100961	Enlarged hippocampus	Increase in size of the hippocampus.
HP:0100962	Shyness	
HP:0100963	Hyperesthesia	Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.
HP:0200000	Dysharmonic bone age	Different levels of maturation of different bones.
HP:0200001	Dysharmonic accelerated bone age	A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.
HP:0200003	Splayed epiphyses	Flaring (widening) of the epiphysis.
HP:0200005	Abnormal shape of the palpebral fissure	The presence of an abnormal shape of the palpebral fissure.
HP:0200006	Slanting of the palpebral fissure	
HP:0200007	Abnormal size of the palpebral fissures	An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.
HP:0200008	Intestinal polyposis	The presence of multiple polyps in the intestine.
HP:0200011	Abnormal length of corpus callosum	
HP:0200012	Short corpus callosum	
HP:0200013	Neoplasm of fatty tissue	A tumor (abnormal growth of tissue) of adipose tissue.
HP:0200015	Symmetric great toe depigmentation	
HP:0200016	Acrokeratosis	Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
HP:0200017	Cerebral white matter agenesis	Congenital defect with failure of the development of the cerebral white matter.
HP:0200018	Protanomaly	A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.
HP:0200020	Corneal erosion	An erosion or abrasion of the cornea's outermost layer of epithelial cells.
HP:0200021	Down-sloping shoulders	Low set, steeply sloping shoulders.
HP:0200022	Choroid plexus papilloma	Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.
HP:0200023	Priapism	A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.
HP:0200024	Premature chromatid separation	The presence of premature sister chromatid segregation.
HP:0200025	Mandibular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.
HP:0200026	Ocular pain	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
HP:0200028	Pretibial myxedema	A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.
HP:0200029	Vasculitis in the skin	
HP:0200030	Punctate vasculitis skin lesions	
HP:0200032	Kayser-Fleischer ring	Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.
HP:0200034	Papule	A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
HP:0200035	Skin plaque	A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.
HP:0200036	Skin nodule	Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
HP:0200037	Skin vesicle	A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.
HP:0200039	Pustule	A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
HP:0200040	Epidermoid cyst	Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.
HP:0200041	Skin erosion	A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
HP:0200042	Skin ulcer	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
HP:0200043	Verrucae	Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
HP:0200044	Porokeratosis	A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.
HP:0200046	Cat cry	The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.
HP:0200047	Chondritis of pinna	Inflammation of the cartilage of the external ear.
HP:0200048	Cyanotic episode	
HP:0200049	Upper limb hypertonia	Increased muscle tone observed in the arms of the affected person.
HP:0200050	Bracket metacarpal epiphyses	
HP:0200053	Hemihypotrophy of lower limb	Shortening of a leg affecting only one side.
HP:0200054	Foot monodactyly	
HP:0200055	Small hand	Disproportionately small hand.
HP:0200056	Macular scar	Scar tissue in the macula.
HP:0200057	Marcus Gunn pupil	An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.
HP:0200058	Angiosarcoma	
HP:0200059	Metastatic angiosarcoma	
HP:0200063	Colorectal polyposis	Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.
HP:0200064	Asymmetry of iris pigmentation	Asymmetry between the two irides or asymmetry between different parts of one iris.
HP:0200065	Chorioretinal degeneration	
HP:0200066	Ribbonlike corneal degeneration	
HP:0200067	Recurrent spontaneous abortion	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.
HP:0200068	Nonprogressive visual loss	
HP:0200070	Peripheral retinal atrophy	
HP:0200071	Peripheral vitreoretinal degeneration	A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.
HP:0200072	Episodic quadriplegia	Intermittent episodes of paralysis of all four limbs.
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	
HP:0200083	Severe limb shortening	
HP:0200084	Giant cell hepatitis	Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.
HP:0200085	Limb tremor	
HP:0200094	Frontal open bite	
HP:0200096	Triangular-shaped open mouth	A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.
HP:0200097	Oral mucosal blisters	Blisters arising in the mouth.
HP:0200098	Absent skin pigmentation	Lack of skin pigmentation (coloring).
HP:0200101	Decreased/absent ankle reflexes	
HP:0200102	Sparse or absent eyelashes	
HP:0200104	Absent fifth fingernail	Absence of nail of little finger.
HP:0200105	Absent fifth toenail	
HP:0200106	Absent/shortened dynein arms	
HP:0200107	Shortened inner dynein arms	
HP:0200108	Shortened outer dynein arms	
HP:0200109	Absent/shortened outer dynein arms	
HP:0200111	Absent stapes head	
HP:0200113	Aphalangy of hands and feet	
HP:0200114	Metabolic alkalosis	Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.
HP:0200116	Distal ileal atresia	
HP:0200117	Recurrent upper and lower respiratory tract infections	Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.
HP:0200118	Malabsorption of Vitamin B12	
HP:0200119	Acute hepatitis	Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.
HP:0200120	Chronic active hepatitis	Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.
HP:0200122	Atypical or prolonged hepatitis	
HP:0200123	Chronic hepatitis	Hepatitis that lasts for more than six months.
HP:0200124	Chronic hepatitis due to cryptosporidium infection	Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.
HP:0200125	Mitochondrial respiratory chain defects	
HP:0200127	Atrial cardiomyopathy	Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.
HP:0200128	Biventricular hypertrophy	Thickening of the heart walls in both ventricles.
HP:0200133	Lumbosacral meningocele	
HP:0200134	Epileptic encephalopathy	A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.
HP:0200136	Oral-pharyngeal dysphagia	
HP:0200138	Bilateral choanal atresia/stenosis	
HP:0200141	Small, conical teeth	
HP:0200143	Megaloblastic erythroid hyperplasia	
HP:0200146	Mucoid extracellular matrix accumulation	An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).
HP:0200147	Neuronal loss in basal ganglia	A reduction in the number of nerve cells in the basal ganglia.
HP:0200148	Abnormal liver function tests during pregnancy	
HP:0200149	CSF lymphocytic pleiocytosis	An increased lymphocyte count in the cerebrospinal fluid.
HP:0200150	Increased serum bile acid concentration during pregnancy	
HP:0200151	Cutaneous mastocytosis	Multifocal dense infiltrates of mast cells in cutaneous tissue.
HP:0200153	Agenesis of lateral incisor	
HP:0200154	Agenesis of mandibular lateral incisor	
HP:0200158	Agenesis of permanent mandibular lateral incisor	
HP:0200159	Agenesis of primary mandibular lateral incisor	
HP:0200160	Agenesis of maxillary incisor	
HP:0200161	Agenesis of mandibular incisor	
HP:0400000	Tall chin	Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.
HP:0400001	Chin with vertical crease	Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.
HP:0400002	Extra concha fold	Folds or ridges within the concha that are distinct from the crus helix.
HP:0400003	Focal absence of the external ear	Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).
HP:0400004	Long ear	Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.
HP:0400005	Short ear	Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.
HP:0400007	Polymenorrhea	Frequent menses; menstrual cycles lasting less than 21 days.
HP:0400008	Menometrorrhagia	Prolonged/excessive menses and bleeding at irregular intervals.
HP:0410000	Abnormal vomer morphology	An abnormality of the vomer.
HP:0410005	Cleft hard palate	
HP:0410006	Abnormality of ophthalmic artery	Abnormality of the first branch of the internal carotid artery.
HP:0410008	Abnormality of the peripheral nervous system	Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.
HP:0410009	Abnormality of the somatic nervous system	Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.
HP:0410010	Abnormality of somatic nerve plexus	Any abnormality of the somatic nerve plexus.
HP:0410011	Abnormality of masticatory muscle	Any abnormality of the masticatory muscle.
HP:0410012	Abnormal mouth floor morphology	Any abnormality of the mouth floor.
HP:0410013	Abnormality of the submandibular region	Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.
HP:0410014	Abnormal ganglion morphology	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.
HP:0410015	Abnormal peripheral nervous system ganglion morphology	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.
HP:0410016	Abnormal cranial ganglion morphology	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.
HP:0410017	Otitis externa	Inflammation or infection of the external auditory canal (EAC), the auricle, or both.
HP:0410018	Recurrent ear infections	Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.
HP:0410019	Epigastric pain	Pain that is localized to the region of the upper abdomen immediately below the ribs.
HP:0410020	Fish odor	Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.
HP:0410021	Musty odor	Pungent body odor.
HP:0410022	Vaginal fish odor	A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).
HP:0410023	Abnormal distribution of cell junction proteins in buccal mucosal cells	An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.
HP:0410026	Abnormal periodontium morphology	Any abnormality of the periodontium.
HP:0410027	Alveolar bone loss around teeth	A decrease in the amount of alveolar bone around the root of a tooth.
HP:0410028	Recurrent oral herpes	Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.
HP:0410030	Cleft lip	A gap in the lip or lips.
HP:0410031	Submucous cleft of soft and hard palate	Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.
HP:0410033	Unilateral alveolar cleft of maxilla	One sided alveolar cleft of the maxilla.
HP:0410034	Bilateral alveolar cleft of maxilla	Nonmidline alveolar cleft of the maxilla.
HP:0410035	Abnormal T cell activation	Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
HP:0410042	Abnormal liver morphology	Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.
HP:0410043	Abnormal neural tube morphology	Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).
HP:0410049	Abnormal radial ray morphology	
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.
HP:0410051	Increased level of 3-hydroxy-3-methylglutaric acid in urine	An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.
HP:0410052	Increased level of allantoin in serum	An increase in the level of allantoin in the serum.
HP:0410053	Elevated circulating gamma-aminobutyric acid concentration	An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.
HP:0410054	Decreased circulating GABA concentration	A decrease in the level of GABA in the serum.
HP:0410055	Decreased level of erythritol in urine	A decrease in the level of erythritol in the urine.
HP:0410056	Decreased CSF erythritol concentration	A decrease in the level of erythritol in the cerebrospinal fluid.
HP:0410057	Increased level of D-threitol in plasma	An increase in the level of D-threitol in the plasma.
HP:0410058	Increased level of D-threitol in CSF	An increase in the level of D-threitol in the cerebrospinal fluid.
HP:0410059	Increased level of D-threitol in urine	An increase in the level of D-threitol in the urine.
HP:0410060	Decreased level of D-mannose in urine	A decrease in the level of D-mannose in the urine.
HP:0410061	Increased level of galactitol in plasma	An increase in the level of galactitol in the plasma.
HP:0410062	Increased level of galactitol in urine	An increase in the level of galactitol in the urine.
HP:0410063	Increased level of galactonate in red blood cells	An increase in the level of galactonate in the red blood cells.
HP:0410064	Increased level of galactitol in red blood cells	An increase in the level of galactitol in the red blood cells.
HP:0410065	Increased level of hippuric acid in blood	An increase in the level of hippuric acid in the blood.
HP:0410066	Increased level of hippuric acid in urine	An increase in the level of hippuric acid in the urine.
HP:0410067	Increased level of L-fucose in urine	An increase in the level of L-fucose in the urine.
HP:0410068	Increased level of L-glutamic acid in blood	An increase in the level of L-glutamic acid in the blood.
HP:0410069	Increased level of propylene glycol in blood	An increase in the level of propylene glycol in the blood.
HP:0410070	Increased level of ribitol in urine	An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.
HP:0410071	Increased level of ribitol in CSF	An increase in the level of ribitol in the cerebral spinal fluid.
HP:0410072	Increased level of ribose in urine	An increase in the level of ribose in the urine.
HP:0410073	Increased level of ribose in CSF	An increase in the level of ribose in the cerebrospinal fluid.
HP:0410074	Increased level of xylitol in urine	An increase in the level of xylitol in the urine.
HP:0410075	Increased level of xylitol in CSF	An increase in the level of xylitol in the cerebrospinal fluid.
HP:0410132	Increased level of L-pyroglutamic acid in urine	An increase in the level of L-pyroglutamic acid in the urine.
HP:0410133	Chronic idiopathic urticaria	Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.
HP:0410134	Physical urticaria	Urticaria caused by physical agents, such as heat, cold, light, friction.
HP:0410135	Cold urticaria	Urticaria may be caused by cold temperatures.
HP:0410136	Aquagenic urticaria	A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.
HP:0410137	Solar urticaria	Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.
HP:0410138	Vibratory urticaria	Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.
HP:0410139	Exercise induced anaphylaxis	Anaphylaxis after physical activity.
HP:0410144	Abnormal circulating biotinidase concentration	An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
HP:0410145	Decreased circulating biotinidase concentration	Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
HP:0410146	Elevated circulating biotinidase concentration	Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
HP:0410147	Eosinophilic infiltration in the stomach mucosa	Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.
HP:0410148	Idiopathic anaphylaxis	A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.
HP:0410149	Drug-induced anaphylaxis	A form of anaphylaxis that is triggered by intake of drugs or medications.
HP:0410151	Eosinophilic infiltration of the esophagus	Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.
HP:0410152	Eosinophilic microabscess formation in the esophagus	The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.
HP:0410153	Increased level of methylsuccinic acid in urine	An increase in the level of methylsuccinic acid in the urine.
HP:0410154	Increased level of myristic acid in serum	An increase in the level of myristic acid in the serum.
HP:0410156	Increased level of N-acetylneuraminic acid in urine	An increase in the level of N-acetylneuraminic acid in the urine.
HP:0410157	Increased level of N-acetylneuraminic acid in fibroblasts	An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.
HP:0410166	Defective interstrand cross-link repair	A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.
HP:0410167	Abnormal morphology of the chest musculature	Any abnormality of the chest muscles.
HP:0410168	Abnormality of the back musculature	Any abnormality of the back muscles.
HP:0410169	Abnormal morphology of the shoulder musculature	Any abnormality of the shoulder muscles.
HP:0410170	Hippocampal atrophy	Partial or complete wasting (loss) of hippocampus tissue that was once present.
HP:0410171	Increased cotinine level	Increased concentration of cotinine in urine.
HP:0410172	Blood xenobiotic	The presence of a xenobiotic in blood.
HP:0410173	Increased circulating troponin I concentration	An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
HP:0410174	Increased circulating troponin T concentration	An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
HP:0410175	Hyperketonemia	An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.
HP:0410176	Abnormal circulating glucose-6-phosphate dehydrogenase concentration	An anomaly in the level of glucose-6-phosphate dehydrogenase.
HP:0410177	Abnormal glucose-6-phosphate dehydrogenase level in blood	An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.
HP:0410178	Increased glucose-6-phosphate dehydrogenase level in blood	An increase in the level of glucose-6-phosphate dehydrogenase in the blood.
HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.
HP:0410180	Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot	An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.
HP:0410181	Increased glucose-6-phosphate dehydrogenase level in dried blood spot	An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.
HP:0410182	Decreased glucose-6-phosphate dehydrogenase level in dried blood spot	A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.
HP:0410183	Abnormal glucose-6-phosphate dehydrogenase level in leukocytes	An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.
HP:0410184	Abnormal glucose-6-phosphate dehydrogenase level in red blood cells	An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.
HP:0410185	Abnormal glucose-6-phosphate dehydrogenase level in tissue	An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.
HP:0410186	Increased glucose-6-phosphate dehydrogenase level in tissue	An increase in the level of glucose-6-phosphate dehydrogenase in tissue.
HP:0410187	Decreased glucose-6-phosphate dehydrogenase level in tissue	A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.
HP:0410188	Decreased glucose-6-phosphate dehydrogenase level in red blood cells	A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.
HP:0410189	Increased glucose-6-phosphate dehydrogenase level in red blood cells	An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.
HP:0410190	Decreased glucose-6-phosphate dehydrogenase level in leukocytes	A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.
HP:0410191	Increased glucose-6-phosphate dehydrogenase level in leukocytes	An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.
HP:0410192	Abnormal uridine diphosphate glucose-4-epimerase level	An abnormality in uridine diphosphate glucose-4-epimerase level, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410193	Abnormal uridine diphosphate glucose-4-epimerase level in plasma	An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410194	Increased uridine diphosphate glucose-4-epimerase level in plasma	An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410195	Decreased uridine diphosphate glucose-4-epimerase level in plasma	A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410196	Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells	An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410197	Increased uridine diphosphate glucose-4-epimerase level in red blood cells	An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410198	Decreased uridine diphosphate glucose-4-epimerase level in red blood cells	A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
HP:0410199	Increased CSF urate concentration	Increased concentration of urate in the cerebrospinal fluid.
HP:0410200	Positive meconium barbiturate test	Detection of barbiturate metabolites such as phenobarbital in meconium.
HP:0410201	Positive hair barbiturate test	Detection of barbiturate metabolites such as phenobarbital in the hair.
HP:0410202	Positive stool barbiturate test	Detection of barbiturate metabolites such as phenobarbital in the stool.
HP:0410203	Positive gastric fluid barbiturate test	Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.
HP:0410204	Increased intestinal transit time	An increase in the length of time required for food to pass through the intestines.
HP:0410205	Abnormal circulating nicotinurate concentration	Any deviation from the normal concentration of nicotinurate in the blood.
HP:0410206	Increased circulating nicotinurate level	An increased amount of nicotinurate in the blood.
HP:0410207	Positive methadone plasma/serum test	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.
HP:0410208	Positive plasma/serum cotinine test	Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.
HP:0410209	Folate deficiency in CSF	A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.
HP:0410210	Abnormal cord blood measurement	An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.
HP:0410211	Abnormal blood gas level in cord blood	
HP:0410212	Hyperoxemia in cord blood	An abnormally high level of blood oxygen in the cord blood.
HP:0410213	Hypoxemia in cord blood	An abnormally low level of blood oxygen in the cord blood.
HP:0410214	Hypercapnia in cord blood	Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.
HP:0410215	Hypocapnia in cord blood	Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.
HP:0410216	Abnormal blood 5-methyltetrahydrofolate level	An abnormal concentration of 5-methyltetrahydrofolate in the blood.
HP:0410217	Reduced blood 5-methyltetrahydrofolate level	A decreased concentration of 5-methyltetrahydrofolate in the blood.
HP:0410218	Hypoplasia of maxilla relative to mandible	Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).
HP:0410219	Hypoplasia of mandible relative to maxilla	Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).
HP:0410220	Increased anti-dairy protein IgE antibody level	Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.
HP:0410221	Increased anti-animal protein IgE antibody level	Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.
HP:0410222	Increased anti-seafood IgE antibody level	Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.
HP:0410223	Increased anti-dust mite IgE antibody level	Increased level of IgE antibody against dust mites, such as house dust mites.
HP:0410224	Increased anti-bacteria IgE antibody level	Increased level of IgE antibody against bacteria.
HP:0410225	Increased anti-drug IgE antibody level	Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.
HP:0410226	Increased anti-feather IgE antibody level	Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.
HP:0410227	Increased anti-food allergen IgE antibody level	Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.
HP:0410228	Increased anti-plant based food allergen IgE antibody level	Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.
HP:0410229	Increased anti-gluten IgE antibody level	Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.
HP:0410230	Increased anti-nut food product IgE antibody level	Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.
HP:0410231	Increased anti-egg IgE antibody level	Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.
HP:0410232	Increased anti-fungi IgE antibody level	Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.
HP:0410233	Increased anti-meat allergen IgE antibody level	Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.
HP:0410234	Increased anti-parasite IgE antibody level	Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.
HP:0410235	Increased anti-insect IgE antibody level	Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.
HP:0410236	Increased anti-venom IgE antibody level	Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.
HP:0410238	Increased anti-plant product IgE antibody level	Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.
HP:0410239	Positive urine norcotinine test	Detection of norcotinine, a metabolite of nicotine, in urine.
HP:0410240	Abnormal circulating IgA level	An abnormal deviation from normal levels of IgA immunoglobulin in blood.
HP:0410241	Abnormal circulating IgE level	An abnormal deviation from normal levels of IgE immunoglobulin in blood.
HP:0410242	Abnormal circulating IgG level	An abnormal deviation from normal levels of IgG immunoglobulin in blood.
HP:0410243	Abnormal circulating IgM level	An abnormal deviation from normal levels of IgM immunoglobulin in blood.
HP:0410244	Abnormal circulating IgD level	An abnormal deviation from normal levels of IgD immunoglobulin in blood.
HP:0410245	Decreased circulating IgD	An abnormally decreased level of immunoglobulin D (IgD) in blood.
HP:0410246	Increased circulating IgD level	An abnormally increased level of immunoglobulin D in blood.
HP:0410247	Increased anti-animal dander IgE antibody level	Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.
HP:0410248	Increased anti-house dust mite IgE antibody level	Increased level of IgE antibody against house dust mites, a common allergen.
HP:0410249	Increased anti-alpha-gal IgE antibody level	Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.
HP:0410251	Abnormal L-selectin shedding	An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.
HP:0410252	Chronic neutropenia	Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.
HP:0410253	Myeloid maturation arrest	Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.
HP:0410254	Cyclic neutropenia in myeloid maturation arrest in bone marrow	Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.
HP:0410255	Transient neutropenia	A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.
HP:0410256	Infection associated neutropenia	Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.
HP:0410257	Neutrophilia in presence of infection	An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.
HP:0410258	Neutrophilia in absence of infection	An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.
HP:0410259	Hepatopulmonary fusion	Fusion of the liver with the lung.
HP:0410260	Asymmetrical gluteal crease	The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.
HP:0410261	Wide space between 4th and 5th toe	A widely spaced gap between the fourth toe and the fifth (pinky) toe.
HP:0410262	Lower cranial nerve dysfunction	A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.
HP:0410263	Brain imaging abnormality	An anomaly of metabolism or structure of the brain identified by imaging.
HP:0410264	Subglottic hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.
HP:0410265	Supraglottic hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.
HP:0410266	Visceral hemangioma	A hemangioma arising from within visceral structures, the internal organs of the body.
HP:0410267	Intestinal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.
HP:0410268	Spleen hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.
HP:0410269	Labial hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.
HP:0410270	Esophageal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.
HP:0410271	Laryngeal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.
HP:0410272	Vulvar hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.
HP:0410273	Retropharyngeal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.
HP:0410274	Paraspinal hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.
HP:0410275	Lumbosacral hemangioma	A spinal cord hemangioma located in the lumbosacral spine region.
HP:0410276	Supraumbilical raphe	An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).
HP:0410277	Sternal pit	A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.
HP:0410278	Pituitary gland cyst	A fluid-filled sacs that develop on or near the pituitary gland.
HP:0410279	Atrophic pituitary gland	Partial or complete wasting (loss) of the pituitary gland.
HP:0410280	Pediatric onset	Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.
HP:0410281	Dyspepsia	A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.
HP:0410282	Abnormal circulating amylase concentration	A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
HP:0410283	Positive blood acetaminophen test	Detection of acetaminophen in the blood.
HP:0410284	Positive norpropoxyphene blood test	Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.
HP:0410285	Positive meconium methadone test	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.
HP:0410286	Positive blood molindone test	Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.
HP:0410287	Intrathoracic hemangioma	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.
HP:0410288	Hyperamylasemia	Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
HP:0410289	Hypoamylasemia	Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
HP:0410290	Positive urine norpropoxyphene test	Detection of norpropoxyphene in urine.
HP:0410291	Negativism	Opposing or not responding to instructions or external stimuli.
HP:0410292	Abnormal isohemagglutinin level	An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
HP:0410293	Absent isohemagglutinin level	Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
HP:0410294	Decreased specific antibody response to protein vaccine	A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.
HP:0410295	Complete or near-complete absence of specific antibody response to tetanus vaccine	The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
HP:0410296	Complete or near-complete absence of specific antibody response to hepatitis B vaccine	The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.
HP:0410297	Partial absence of specific antibody response to tetanus vaccine	A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
HP:0410298	Partial absence of specific antibody response to hepatitis B vaccine	A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.
HP:0410299	Decreased specific antibody response to polysaccharide vaccine	A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
HP:0410300	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine	The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
HP:0410301	Partial absence of specific antibody response to unconjugated pneumococcus vaccine	A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
HP:0410302	Decreased specific antibody response to protein-conjugated polysaccharide vaccine	A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
HP:0410303	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.
HP:0410304	Complete or near-complete absence of specific antibody response to meningococcus vaccine	The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.
HP:0410305	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine	A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.
HP:0410306	Partial absence of specific antibody response to meningococcus vaccine	A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.
HP:0410307	Positive stool methadone test	Detection of methadone and its metabolites in the stool.
HP:0410308	Decreased specific antibody response to infection	A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.
HP:0410309	Alpha-aminoadipic aciduria	A increased concentration of alpha-aminoadipic acid in the urine.
HP:0410310	Abnormality of neutrophil morphology in CSF	An abnormal form or size of neutrophils in the cerebrospinal fluid.
HP:0410311	Hyposegmentation of neutrophil nuclei in CSF	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.
HP:0410312	Hypersegmentation of neutrophil nuclei in CSF	An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.
HP:0410313	Abnormal urinary 1-methylhistidine concentration	Abnormal concentration of 1-methylhistidine in the urine.
HP:0410314	Decreased urinary 1-methylhistidine	Decreased concentration of 1-methylhistidine in the urine.
HP:0410315	Increased urinary 1-methylhistidine	Increased concentration of 1-methylhistidine in the urine.
HP:0410316	Abnormal urinary 3-methylhistidine level	Abnormal amount of 3-methylhistidine in the urine.
HP:0410317	Increased urinary 3-methylhistidine	Increased concentration of 3-methylhistidine in the urine.
HP:0410318	Decreased urinary 3-methylhistidine	Decreased concentration of 3-methylhistidine in the urine.
HP:0410319	Alpha-gal allergy	Hypersensitivity in form of an adverse immune reaction against alpha-gal.
HP:0410320	Animal protein allergy	Hypersensitivity in form of an adverse immune reaction against animal proteins.
HP:0410321	Animal dander allergy	Hypersensitivity in form of an adverse immune reaction against animal dander.
HP:0410322	Bacteria allergy	Hypersensitivity in form of an adverse immune reaction against bacteria.
HP:0410323	Drug allergy	Hypersensitivity in form of an adverse immune reaction against drugs.
HP:0410324	Dust mite allergy	Hypersensitivity in form of an adverse immune reaction against dust mites.
HP:0410326	Feather allergy	Hypersensitivity in form of an adverse immune reaction against feathers.
HP:0410327	Dairy allergy	Hypersensitivity in form of an adverse immune reaction against dairy.
HP:0410328	Egg allergy	Hypersensitivity in form of an adverse immune reaction against eggs.
HP:0410329	Gluten allergy	Hypersensitivity in form of an adverse immune reaction against gluten.
HP:0410330	Meat allergen allergy	Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.
HP:0410331	Nut food product allergy	Hypersensitivity in form of an adverse immune reaction against nut food products.
HP:0410332	Plant based food allergy	Hypersensitivity in form of an adverse immune reaction against plant based food allergens.
HP:0410333	Seafood allergy	Hypersensitivity in form of an adverse immune reaction against seafood.
HP:0410334	Fungi allergy	Hypersensitivity in form of an adverse immune reaction against fungus.
HP:0410335	Insect allergy	Hypersensitivity in form of an adverse immune reaction against insects.
HP:0410336	Venom allergy	Hypersensitivity in form of an adverse immune reaction against insect venom.
HP:0410337	Parasite allergy	Hypersensitivity in form of an adverse immune reaction against parasites.
HP:0410338	Plant product allergy	Hypersensitivity in form of an adverse immune reaction against plant products.
HP:0410339	Insect bite allergy	Hypersensitivity in form of an adverse immune reaction against insect bites.
HP:0410340	Focal epithelial hyperplasia of oral mucosa	The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.
HP:0410341	Abnormal circulating heparan sulfate level	An abnormal level of heparan sulfate in the blood.
HP:0410342	Increased circulating heparan sulfate level	An abnormal increase in the concentration of heparan sulfate in the blood.
HP:0410343	Decreased circulating heparan sulfate level	An abnormal decrease in the concentration of heparan sulfate in the blood.
HP:0410344	Shortened O-fucosylated glycan on properdin	Decreased length of O-fucosylated glycans present on properdin.
HP:0410345	Increased urinary polyhexose	An abnormal increase in the concentration of polyhexose in the urine.
HP:0410346	Increased urinary galactosylated oligosaccharide	An abnormal increase in the concentration of galactosylated oligosaccharides in urine.
HP:0410347	Increased urinary high-mannose-type oligosaccharide	An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.
HP:0410348	Increased urinary multiantennary sialylated oligosaccharide	An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.
HP:0410349	Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level	An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.
HP:0410350	Increased urinary fucosylated oligosaccharide	An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.
HP:0410351	Abnormal complex N-glycan level	An abnormal concentration of complex N-glycans on glycoproteins.
HP:0410352	Increased complex N-glycan level	An abnormal increase in the concentration of complex N-glycans on glycoproteins.
HP:0410353	Decreased complex N-glycan level	An abnormal decrease in the concentration of complex N-glycans on glycoproteins.
HP:0410354	Increased sialylated N-glycan level	An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.
HP:0410355	Decreased sialylated N-glycan level	An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.
HP:0410356	Abnormal high-mannose N-glycan level	An abnormal concentration of high-mannose N-glycans on glycoproteins.
HP:0410357	Increased high-mannose N-glycan level	An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.
HP:0410358	Decreased high-mannose N-glycan level	An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.
HP:0410359	Abnormal core 1 O-glycan level	An abnormal in the concentration of core 1 O-glycans on glycoproteins.
HP:0410360	Increased core 1 O-glycan level	An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.
HP:0410361	Decreased core 1 O-glycan level	An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.
HP:0410362	Decreased O-mannosyl glycans on alpha-dystroglycan	Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.
HP:0410363	Increased monosialylated core 1 O-glycan level	An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.
HP:0410364	Decreased monosialylated core 1 O-glycan level	An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.
HP:0410365	Increased disialylated core 1 O-glycan level	An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.
HP:0410366	Increased globoside Gb4 level	An abnormal increase in the concentration of globoside Gb4.
HP:0410367	Increased hepatitis A virus antibody level	An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.
HP:0410368	Increased globoside Gb3 level	An abnormal increase in the concentration of glycolipid globoside Gb3.
HP:0410369	Increased hepatitis B virus antibody level	An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.
HP:0410370	Absence of ganglioside GM3	The absence of ganglioside GM3.
HP:0410371	Increased hepatitis C virus antibody level	An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.
HP:0410372	Increased Tn-antigen level	An abnormal increase in the concentration of Tn antigen on glycoproteins.
HP:0410373	Abnormal proportion of naive CD4 T cells	Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.
HP:0410374	Abnormal proportion of naive CD8 T cells	Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.
HP:0410375	Increased proportion of naive CD4 T cells	
HP:0410376	Increased proportion of naive CD8 T cells	An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.
HP:0410377	Decreased proportion of naive CD8 T cells	An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.
HP:0410378	Decreased proportion of naive CD4 T cells	An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.
HP:0410379	Abnormal proportion of CD4-positive, alpha-beta memory T cells	An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
HP:0410380	Abnormal proportion of CD8-positive, alpha-beta memory T cells	An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
HP:0410381	Abnormal proportion of central memory CD4-positive, alpha-beta T cells	An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410383	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410384	Abnormal proportion of central memory CD8-positive, alpha-beta T cells	An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410385	Decreased proportion of CD8-positive, alpha-beta memory T cells	Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
HP:0410386	Decreased proportion of CD4-positive, alpha-beta memory T cells	Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410389	Decreased proportion of central memory CD8-positive, alpha-beta T cells	A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410390	Decreased proportion of effector memory CD8-positive, alpha-beta T cells	A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410391	Increased proportion of CD4-positive, alpha-beta memory T cells	An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
HP:0410392	Increased proportion of CD8-positive, alpha-beta memory T cells	An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
HP:0410393	Increased proportion of central memory CD4-positive, alpha-beta T cells	An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410394	Increased proportion of effector memory CD4-positive, alpha-beta T cells	An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410395	Increased proportion of effector memory CD8-positive, alpha-beta T cells	An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410396	Increased proportion of central memory CD8-positive, alpha-beta T cells	An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
HP:0410397	Bronchiolectasis	Saccular dilatation of the terminal bronchioles.
HP:0410399	Positive blood lead test	Detection of lead in the blood.
HP:0410400	Absent sebaceous glands	Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.
HP:0410401	Worse in evening	Applies to a sign or symptom that is exacerbated in the evening as compared to the day.
HP:0430000	Abnormal frontal bone morphology	An abnormality of the frontal bone.
HP:0430002	Abnormal lacrimal bone morphology	An abnormality of the lacrimal bone.
HP:0430003	Abnormal palatine bone morphology	An abnormality of the palatine bone.
HP:0430004	Frontomalar faciosynostosis	
HP:0430005	Abnormal ethmoid bone morphology	An abnormality of the ethmoid bone
HP:0430006	Ectopic cilia of eyelid	An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.
HP:0430007	Symblepharon	A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.
HP:0430008	Accessory eyelid	The presence of more than the normal number of eyelids.
HP:0430009	Hypoplasia of eyelid	Developmental hypoplasia of the eyelid.
HP:0430010	Microblepharia	Abnormal shortness of the vertical dimensions of the eyelids.
HP:0430011	Defect of palpebral conjunctiva	An abnormality of the palpebral conjunctiva.
HP:0430012	Incomplete ossification of palatine bone	Failure to complete ossification (maturation and calcification) of the palatine bone.
HP:0430013	Absent palatine bone ossification	Lack of formation of the palatine bone.
HP:0430014	Abnormality of musculature of soft palate	An abnormality of one or more of the five muscles of the soft palate.
HP:0430015	Abnormal morphology of musculature of pharynx	An abnormality of any of the muscles of the pharynx.
HP:0430016	Abnormality of tensor veli palatini muscle	An abnormality of the tensor veli palatini muscle
HP:0430017	Abnormality of uvular muscle	An abnormality of the uvular muscle
HP:0430018	Abnormality of nasal musculature	An abnormality of the muscles of the structure of the nose.
HP:0430019	Abnormality of muscle of facial expression	An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.
HP:0430020	Abnormality of levator labii superioris alaeque nasi muscle	An abnormality of the levator labii superioris alaeque nasi muscle.
HP:0430021	Abnormal common carotid artery morphology	An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.
HP:0430022	Abnormality of the sphenoid sinus	An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.
HP:0430023	Abnormality of the maxillary sinus	An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.
HP:0430024	Abnormality of external jugular vein	An abnormality of an external jugular vein of the neck.
HP:0430025	Bilateral facial palsy	Two-sided or bilateral weakness of the muscles of facial expression and eye closure.
HP:0430028	Hyperplasia of the maxilla	Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.
HP:0430029	Hyperplasia of the premaxilla	An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.
HP:0500001	Body odor	A perceived unpleasant smell given off by the body.
HP:0500005	Anal pain	Pain in and around the anus or rectum (perianal region).
HP:0500006	Urethritis	Inflammation of the urethra.
HP:0500007	Iris flocculi	Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.
HP:0500008	Cornea verticillata	Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.
HP:0500009	Dysplastic gangliocytoma of the cerebellum	It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.
HP:0500011	Moon facies	A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.
HP:0500012	Abnormal gonadotropin-releasing hormone concentration	A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).
HP:0500013	Lack of gonadotropin-releasing hormone pulsatility	Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.
HP:0500015	Abnormal cardiac test	Abnormal test result of cardiovascular physiology.
HP:0500016	Abnormal cardiac MRI	Abnormal results of a MRI for the heart.
HP:0500017	Abnormal cardiac catheterization	Abnormal results from the diagnostic tests resulting from cardiac catheterization.
HP:0500018	Abnormal cardiac exercise stress test	Abnormal results of exercise on heart function.
HP:0500019	Abnormal resting energy expenditure from metabolic cart test	Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).
HP:0500020	Abnormal cardiac biomarker test	Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.
HP:0500021	Reduced brain gamma-aminobutyric acid level by MRS	An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0500022	Abnormal circulating dehydroepiandrosterone concentration	A deviation from the normal concentration of dehydroepiandrosterone in the circulation.
HP:0500023	Shoulder muscle aplasia	Absence of shoulder muscles.
HP:0500024	Aplasia of the musculature of the pelvis	Absence of the musculature of the pelvis.
HP:0500026	Hypoplasia of the musculature of the pelvis	Underdevelopment of the musculature of the pelvis.
HP:0500027	Aplastic colon	Congenital absence of the colon
HP:0500028	Cotton wool plaques	Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.
HP:0500030	Abnormal hepatic glycogen storage	Change in normal glycogen storage content.
HP:0500031	Sclerosis of the carpal bones	An elevation in bone density in one or more carpal bones of the hand.
HP:0500032	Abnormal neuron branching	Abnormality of the structure and branching of the dendrites of a neuron.
HP:0500033	Abnormal natural killer subset distribution	Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.
HP:0500034	Nasolacrimal sac obstruction	Blockage of the nasolacrimal sac.
HP:0500035	Nasolacrimal sac granuloma	A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.
HP:0500036	Nasolacrimal sac papilloma	Benign tumor of the nasolacrimal sac.
HP:0500037	Nasolacrimal sac epithelial papillary carcinoma	The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.
HP:0500039	Conjunctival cicatrization	An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.
HP:0500040	Dermolipoma of the conjunctiva	A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.
HP:0500041	Myopic astigmatism	A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.
HP:0500042	Latent hypermetropia	A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.
HP:0500043	Eyelid retraction	With the eyes in primary position, the sclera is visible above the superior corneal limbus.
HP:0500044	Upper eyelid retraction	An elevation of the eyelid above the normal level in the primary position.
HP:0500045	Collier's sign	A unilateral or bilateral eyelid retraction due to midbrain lesions.
HP:0500046	Seborrhoeic blepharitis	Inflammation of the eyelid due to overactivity of the sebaceous gland.
HP:0500047	Nasolacrimal sac lymphoma	A type of lymphoma that involves the nasolacrimal sac.
HP:0500048	Delayed canalization of nasolacrimal duct	A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.
HP:0500049	Retinopathy of prematurity	An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.
HP:0500050	Retinopathy of prematurity stage 1	The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.
HP:0500051	Retinopathy of prematurity stage 2	The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.
HP:0500052	Retinopathy of prematurity stage 3	The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.
HP:0500053	Retinopathy of prematurity stage 4	Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.
HP:0500054	Retinopathy of prematurity stage 4a	A detachment that involves the peripheral retina that does not extend into the macula.
HP:0500055	Retinopathy of prematurity stage 4b	A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.
HP:0500056	Retinopathy of prematurity stage 5	Funnel detachment from the retina with generally traction in all four quadrants.
HP:0500057	Retinopathy of prematurity stage 5a	An open funnel detachment of the retina with generally traction in all four quadrants.
HP:0500058	Retinopathy of prematurity stage 5b	A closed funnel detachment of the retina with generally traction in all four quadrants.
HP:0500059	Retinopathy of prematurity zone I	Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.
HP:0500060	Retinopathy of prematurity zone II	Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.
HP:0500061	Retinopathy of prematurity zone III	Retinopathy which is a residual crescent of retina anterior to zone II.
HP:0500062	Retinopathy of prematurity plus	Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.
HP:0500063	Retinopathy of prematurity pre-plus	As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.
HP:0500064	Retinopathy of prematurity threshold	A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.
HP:0500065	Retinopathy of prematurity prethreshold	High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.
HP:0500066	Latent myopia	The difference between total and manifest myopia.
HP:0500069	Paralytic ectropion	A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.
HP:0500070	Conjunctival dermolipoma	A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.
HP:0500072	Absolute eccentric fixation	Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.
HP:0500073	Abnormal ocular alignment	Any deviation from the normal ocular alignment.
HP:0500074	Dissociated vertical deviation	An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.
HP:0500075	Dissociated horizontal deviation	A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.
HP:0500076	Alternating hypertropia	A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.
HP:0500077	Alternating hyperphoria	A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.
HP:0500078	Alternating hypotropia	A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.
HP:0500079	Alternating hypophoria	A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.
HP:0500081	Pseudophakia	The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).
HP:0500086	Optic nerve gray crescent	Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.
HP:0500087	Peripapillary atrophy	Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
HP:0500088	Foveal depigmentation	Loss of pigment in the fovea centralis.
HP:0500089	Optic nerve sheath meningioma	A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.
HP:0500090	Periocular capillary hemangioma	A capillary hemangioma surrounding the eyeball but within the orbit.
HP:0500091	Lymphangioma of the orbit	A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.
HP:0500092	Orbital rhabdomyosarcoma	A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.
HP:0500093	Food allergy	Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.
HP:0500094	Latex allergy	Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.
HP:0500095	Food-induced anaphylaxis	Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.
HP:0500096	Venom-induced anaphylaxis	A form of anaphylaxis that is triggered by exposure to venom.
HP:0500097	Stool xenobiotic	Presence of xenobiotic in stool.
HP:0500098	Meconium xenobiotic	Presence of a xenobiotic in meconium.
HP:0500099	Hair xenobiotic	Presence of xenobiotic in hair.
HP:0500100	Plasma/serum xenobiotic	Presence of a xenobiotic in plasma and/or serum.
HP:0500101	Gastric fluid xenobiotic	Presence of a xenobiotic in gastric fluid.
HP:0500104	Decreased diastolic blood pressure	Abnormal decrease in diastolic blood pressure.
HP:0500105	Decreased systolic blood pressure	Abnormal decrease in systolic blood pressure.
HP:0500106	Isolated systolic hypertension	Elevated systolic blood pressure without an elevated blood pressure.
HP:0500107	Isolated diastolic hypotension	A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).
HP:0500108	Positive urine cocaine test	Detection of cocaine or its major metabolite, benzoylecgonine, in urine.
HP:0500109	Positive urine barbiturate test	Detection of barbiturate metabolites such as Phenobarbital in urine.
HP:0500110	Positive urine cannabinoid test	Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.
HP:0500111	Positive urine benzodiazepines test	Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.
HP:0500112	Positive urine amphetamine test	Detection of amphetamine or its metabolites in urine.
HP:0500113	Positive urine opioid test	Detection of opioids or opioid metabolites in urine.
HP:0500114	Abnormal stool urobilinogen concentration	Abnormal concentration of urobilinogen present in the stool.
HP:0500115	Increased stool urobilinogen concentration	An increased amount of urobilinogen present in the stool.
HP:0500116	Positive blood barbiturate test	Detection of barbiturate metabolites such as Phenobarbital in blood.
HP:0500117	Abnormal CSF urate concentration	Abnormal concentration of urate in the cerebrospinal fluid (CSF).
HP:0500132	Hypovalinemia	A decreased amount of valine in the blood.
HP:0500133	Hypotyrosinemia	An decreased concentration of tyrosine in the blood.
HP:0500134	Hypertryptophanemia	An increased amount of tryptophan in the blood.
HP:0500135	Hypotryptophanemia	A decreased amount of tryptophan in the blood.
HP:0500136	Hypothreoninemia	A decreased amount of threonine in the blood.
HP:0500138	Hyperserinemia	An increased amount of serine in the blood.
HP:0500139	Hypoprolinemia	A decreased amount of proline in the blood.
HP:0500140	Decreased circulating hydroxyproline concentration	A decreased amount of hydroxyproline in the blood.
HP:0500141	Hypophenylalaninemia	A decreased amount of phenylalanine in the blood.
HP:0500142	Hypolysinemia	A decreased amount of lysine in the blood.
HP:0500143	Hypoleucinemia	Decreased amount of leucine in the blood.
HP:0500144	Hypoisoleucinemia	A decreased amount of isoleucine in the blood.
HP:0500145	Hypohistidinemia	A decreased amount of histidine in the blood.
HP:0500147	Hypoglutaminemia	Decreased amount of glutamine in the blood.
HP:0500148	Abnormal circulating glutamate concentration	Any deviation from the normal concentration of glutamate in the blood circulation.
HP:0500149	Hyperglutamatemia	An increased amount of glutamate in the blood.
HP:0500150	Hypoglutamatemia	A decreased amount of glutamate in the blood.
HP:0500151	Hypercystinemia	An increased amount of cystine in the blood.
HP:0500152	Hypocystinemia	A decreased amount of cystine in the blood.
HP:0500153	Hyperargininemia	An increased amount of arginine levels in the blood.
HP:0500154	Hypoalaninemia	A decreased amount of alanine in the blood.
HP:0500155	Abnormal circulating asparagine concentration	Any deviation from the normal concentration of asparagine in the blood circulation.
HP:0500156	Hyperasparaginemia	An increased amount of asparagine in the blood.
HP:0500157	Hypoasparaginemia	A decreased amount of asparagine in the blood.
HP:0500158	Abnormal circulating aspartic acid concentration	Any deviation from the normal concentration of aspartate in the blood circulation.
HP:0500159	Increased circulating aspartic acid concentration	An increased concentration of aspartic acid in the blood circulation.
HP:0500160	Abnormal circulating carnosine concentration	Any deviation from the normal concentration of carnosine in the blood circulation.
HP:0500161	Increased level of carnosine in blood	An increased amount of carnosine in the blood.
HP:0500162	Decreased level of carnosine in blood	A decreased amount of carnosine in bood.
HP:0500163	Hypoornithinemia	An abnormal decrease in ornithine in the blood.
HP:0500164	Abnormal blood carbon dioxide level	An abnormality of carbon dioxide (CO2) in the arterial blood.
HP:0500165	Abnormal blood oxygen level	An abnormality of the partial pressure of oxygen in the arterial blood.
HP:0500166	Abnormal circulating gastrin concentration	An abnormal concentration of gastrin in the blood.
HP:0500167	Hypergastrinemia	An elevated amount of gastrin in the blood.
HP:0500170	Abnormal concentration of acylcarnitine in the urine	An abnormal amount of acylcarnitine in the urine.
HP:0500173	Reflex asystolic syncope	A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.
HP:0500180	Abnormal circulating amino sulfonic acid concentration	
HP:0500181	Hypertaurinemia	An increased amount of taurine in the blood.
HP:0500182	Hypotaurinemia	A decreased amount of taurine in the blood.
HP:0500183	Abnormal CSF carboxylic acid concentration	Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.
HP:0500184	Abnormal CSF amino acid concentration	Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.
HP:0500185	Abnormal CSF branched chain amino acid concentration	Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.
HP:0500186	Abnormal CSF valine concentration	Any deviation from the normal concentration of valine in the cerebrospinal fluid.
HP:0500187	Increased CSF valine concentration	Any increased amount from normal of valine in the cerebrospinal fluid.
HP:0500188	Decreased CSF valine concentration	Any decreased amount from normal of valine in the cerebrospinal fluid.
HP:0500189	Abnormal CSF leucine concentration	Any deviation from the normal concentration of leucine in the cerebrospinal fluid.
HP:0500190	Decreased CSF leucine concentration	Abnormally decreased levels of leucine in the cerebrospinal fluid.
HP:0500191	Increased CSF leucine concentration	Abnormally increased levels of leucine in cerebrospinal fluid.
HP:0500192	Abnormal CSF isoleucine concentration	Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.
HP:0500193	Increased CSF isoleucine concentration	Abnormally increased levels of isoleucine in cerebrospinal fluid.
HP:0500194	Decreased CSF isoleucine concentration	Abnormally decreased levels of isoleucine in cerebrospinal fluid.
HP:0500195	Abnormal CSF glutamine family amino acid concentration	Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.
HP:0500196	Abnormal CSF glutamine concentration	Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.
HP:0500197	Increased CSF glutamine concentration	Abnormally increased levels of glutamine in cerebrospinal fluid.
HP:0500198	Decreased CSF glutamine concentration	Abnormally decreased levels of glutamine in cerebrospinal fluid.
HP:0500199	Abnormal CSF glutamate concentration	Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.
HP:0500200	Increased CSF glutamate concentration	Abnormally increased levels of glutamic acid in cerebrospinal fluid.
HP:0500201	Decreased CSF glutamate concentration	Abnormally decreased levels of glutamic acid in cerebrospinal fluid.
HP:0500202	Abnormal CSF arginine concentration	Any deviation from the normal concentration of arginine in the cerebrospinal fluid.
HP:0500203	Increased CSF arginine concentration	Abnormally increased levels of arginine in cerebrospinal fluid.
HP:0500204	Decreased CSF arginine concentration	Abnormally decreased levels of arginine in cerebrospinal fluid.
HP:0500205	Abnormal CSF aspartate family amino acid concentration	Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.
HP:0500206	Abnormal CSF lysine concentration	Any deviation from the normal concentration of lysine in the cerebrospinal fluid.
HP:0500207	Decreased CSF lysine concentration	Abnormally decreased levels of lysine in cerebrospinal fluid.
HP:0500208	Increased CSF lysine concentration	Abnormally increased levels of lysine in cerebrospinal fluid.
HP:0500209	Abnormal CSF methionine concentration	Any deviation from the normal concentration of methionine in the cerebrospinal fluid.
HP:0500210	Increased CSF methionine concentration	Abnormally increased levels of methionine in cerebrospinal fluid.
HP:0500211	Abnormal CSF threonine concentration	Any deviation from the normal concentration of threonine in the cerebrospinal fluid.
HP:0500212	Increased CSF threonine concentration	Abnormally increased levels of threonine in cerebrospinal fluid.
HP:0500213	Decreased CSF threonine concentration	Abnormally decreased levels of threonine in cerebrospinal fluid.
HP:0500214	Abnormal CSF aromatic amino acid concentration	Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.
HP:0500215	Abnormal CSF phenylalanine concentration	Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.
HP:0500216	Abnormal CSF aspartate concentration	Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.
HP:0500217	Increased CSF aspartate concentration	Abnormally increased levels of aspartic acid in cerebrospinal fluid.
HP:0500218	Abnormal CSF tryptophan concentration	Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.
HP:0500219	Abnormal CSF tyrosine concentration	Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.
HP:0500220	Increased CSF tyrosine concentration	Abnormally increased levels of tyrosine in cerebrospinal fluid.
HP:0500221	Decreased CSF tyrosine concentration	Abnormally decreased levels of tyrosine in cerebrospinal fluid.
HP:0500222	Increased CSF tryptophan concentration	Abnormally increased levels of tryptophan in cerebrospinal fluid.
HP:0500223	Increased CSF phenylalanine concentration	Abnormally increased levels of phenylalanine in cerebrospinal fluid.
HP:0500224	Decreased CSF phenylalanine concentration	Abnormally decreased levels of phenylalanine in cerebrospinal fluid.
HP:0500225	Abnormal CSF serine family amino acid concentration	Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.
HP:0500226	Abnormal CSF serine concentration	Any deviation from the normal concentration of serine in the cerebrospinal fluid.
HP:0500227	Increased CSF serine concentration	Abnormally increased levels of serine in cerebrospinal fluid.
HP:0500228	Decreased CSF serine concentration	Abnormally decreased levels of serine in cerebrospinal fluid.
HP:0500229	Abnormal CSF glycine concentration	Any deviation from the normal concentration of glycine in the cerebrospinal fluid.
HP:0500230	Increased CSF glycine concentration	Abnormally increased levels of glycine in cerebrospinal fluid.
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.
HP:0500232	Abnormal CSF alanine concentration	Any deviation from the normal concentration of alanine in the cerebrospinal fluid.
HP:0500233	Increased CSF alanine concentration	Abnormally increased levels of alanine in cerebrospinal fluid.
HP:0500234	Decreased CSF alanine concentration	Abnormally decreased levels of alanine in cerebrospinal fluid.
HP:0500235	Abnormal CSF histidine concentration	Any deviation from the normal concentration of histidine in the cerebrospinal fluid.
HP:0500236	Increased CSF histidine concentration	Abnormally increased levels of histidine in cerebrospinal fluid.
HP:0500237	Decreased CSF histidine concentration	Abnormally decreased levels of histidine in cerebrospinal fluid.
HP:0500238	Abnormal CSF albumin concentration	Any deviation from the normal concentration of albumin in the cerebrospinal fluid.
HP:0500239	Increased CSF albumin concentration	
HP:0500240	Abnormal CSF carnosine concentration	Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.
HP:0500241	Abnormal CSF homocarnosine concentration	Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.
HP:0500242	Increased CSF homocarnosine concentration	Abnormally increased levels of homocarnosine in cerebrospinal fluid.
HP:0500243	Abnormal CSF ornithine concentration	Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.
HP:0500244	Increased CSF ornithine concentration	Abnormally increased levels of ornithine in cerebrospinal fluid.
HP:0500245	Abnormal CSF citrulline concentration	Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.
HP:0500246	Increased CSF citrulline concentration	Abnormally increased levels of citrulline in cerebrospinal fluid.
HP:0500247	Abnormal CSF alpha-aminobutyrate concentration	Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.
HP:0500248	Increased CSF alpha-aminobutyrate concentration	Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.
HP:0500249	Abnormal circulating ethanolamine concentration	Any deviation from the normal concentration of ethanolamine in circulation.
HP:0500250	Increased circulating ethanolamine concentration	Abnormally increased levels of ethanolamine in circulation.
HP:0500251	Abnormal urine sebacic acid concentration	Abnormal concentration of sebacic acid in the urine.
HP:0500252	Increased urine sebacic acid concentration	Elevated concentration of sebacic acid in the urine.
HP:0500253	Increased level of gamma-aminobutyric acid in urine	Elevated concentration of gamma-aminobutyric acid in the urine.
HP:0500254	Abnormal urine hexanoylglycine concentration	Abnormal concentration of hexanoylglycine in the urine.
HP:0500255	Increased level of hexanoylglycine in urine	Elevated concentration of hexanoylglycine in the urine.
HP:0500256	Abnormal urine isobutyrylglycine concentration	Abnormal concentration of isobutyrylglycine in the urine.
HP:0500257	Increased urine isobutyrylglycine concentration	Elevated concentration of isobutyrylglycine in the urine.
HP:0500258	Abnormal carbon dioxide level in cord blood	Abnormal amount of carbon dioxide in umbilical cord blood
HP:0500259	Abnormal oxygen level in cord blood	An abnormal level of blood oxygen in the cord blood.
HP:0500260	Triggered by head trauma	Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.
HP:0500261	Triggered by anesthetics	Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.
HP:0500262	Atrichia	The most dramatic and severe form of hair loss characterized by an absence of hair follicles.
HP:0500263	Abnormal helper T cell proportion	Abnormal proportion of helper T cells relative to the total number of T cells.
HP:0500264	Increased helper T cell proportion	Increased proportion of helper T cells relative to the total number of T cells.
HP:0500265	Increased proportion of CD8-positive, alpha-beta TEMRA T cells	An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
HP:0500266	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells	An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.
HP:0500267	Abnormal proportion of CD4-positive helper T cells	An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.
HP:0500269	Abnormal proportion of gamma-delta T cells	Abnormal proportion of gamma-delta T cells relative to the total number of T cells.
HP:0500270	Increased proportion of gamma-delta T cells	Increased proportion of gamma-delta T cells relative to the total number of T cells.
HP:0500271	Decreased proportion of gamma-delta T cells	Decreased proportion of gamma-delta T cells relative to the total number of T cells.
HP:0500272	Abnormal proportion of immature gamma-delta T cells	Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.
HP:0500273	Increased proportion of immature gamma-delta T cells	Increased proportion of immature gamma-delta T cells relative to the total number of T cells.
HP:0500274	Decreased proportion of immature gamma-delta T cells	Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.
HP:0550003	Proximal scleroderma	Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.
HP:0550004	Verruca plana	Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.
HP:0550005	Bilateral basilar pulmonary fibrosis	It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.
HP:3000002	Abnormal inner ear epithelium morphology	Any structural anomaly of an inner ear epithelium.
HP:3000003	Abnormal mandibular ramus morphology	An abnormality of a mandibular ramus.
HP:3000004	Abnormality of frontalis muscle belly	An abnormality of a frontalis muscle belly.
HP:3000005	Abnormality of masseter muscle	An abnormality of a masseter muscle.
HP:3000006	Abnormality of medial pterygoid muscle	An abnormality of a medial pterygoid muscle.
HP:3000007	Abnormality of mentalis muscle	An abnormality of a mentalis muscle.
HP:3000008	Abnormality of mylohyoid muscle	An abnormality of a mylohyoid muscle.
HP:3000009	Abnormality of nasalis muscle	An abnormality of a nasalis muscle.
HP:3000010	Abnormality of orbicularis oris muscle	An abnormality of an orbicularis oris muscle.
HP:3000011	Abnormality of palatoglossus muscle	An abnormality of a palatoglossus muscle.
HP:3000012	Abnormality of palatopharyngeus muscle	An abnormality of a palatopharyngeus muscle.
HP:3000013	Abnormal platysma muscle morphology	An abnormality of the platysma muscle.
HP:3000014	Abnormality of procerus muscle	An abnormality of a procerus.
HP:3000015	Abnormality of risorius muscle	An abnormality of a risorius muscle.
HP:3000016	Abnormality of styloglossus muscle	An abnormality of the styloglossus muscle.
HP:3000017	Abnormality of temporalis muscle	An abnormality of a temporalis muscle.
HP:3000018	Abnormality of zygomaticus major muscle	An abnormality of a zygomaticus major muscle.
HP:3000019	Abnormal buccal mucosa morphology	An abnormality of a buccal mucosa.
HP:3000020	Abnormality of zygomaticus minor muscle	An abnormality of a zygomaticus minor muscle.
HP:3000021	Abnormal buccal fat pad morphology	An abnormality of a buccal fat pad.
HP:3000022	Abnormality of cartilage of external ear	An abnormality of a cartilage of external ear.
HP:3000023	Abnormality of angular artery	An abnormality of the angular artery, the terminal branch of the facial artery.
HP:3000024	Abnormal facial artery morphology	Any structural abnormality of a facial artery, one of the branches of the external carotid artery.
HP:3000025	Abnormality of ciliary ganglion	An abnormality of a ciliary ganglion.
HP:3000027	Abnormality of buccinator muscle	An abnormality of a buccinator muscle.
HP:3000028	Abnormality of depressor anguli oris muscle	An abnormality of a depressor anguli oris muscle.
HP:3000029	Abnormality of depressor labii inferioris	An abnormality of a depressor labii inferioris.
HP:3000030	Abnormal morphology of bony orbit of skull	An abnormality of an orbit of skull.
HP:3000031	Abnormality of anterior ethmoidal artery	An abnormality of an anterior ethmoidal artery.
HP:3000032	Abnormality of central retinal artery	An abnormality of a central retinal artery.
HP:3000033	Abnormal nasopharyngeal adenoid morphology	Any abnormality of nasopharyngeal adenoids.
HP:3000034	Abnormality nasal septum cartilage morphology	An abnormality of a cartilage of nasal septum.
HP:3000035	Abnormality of cervical plexus	Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.
HP:3000036	Abnormal head blood vessel morphology	An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.
HP:3000037	Abnormal neck blood vessel morphology	An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.
HP:3000038	Abnormal cricoid cartilage morphology	Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.
HP:3000039	Abnormality of dorsal nasal artery	An abnormality of a dorsal nasal artery.
HP:3000040	Abnormality of ethmoid sinus	An abnormality of an ethmoid sinus.
HP:3000041	Abnormality of external carotid artery	An abnormality of an external carotid artery.
HP:3000042	Abnormal jugular vein morphology	Any structural abnormality of a jugular vein.
HP:3000043	Abnormal facial vein morphology	An abnormality of a facial vein.
HP:3000044	Abnormality of frontal process of maxilla	An abnormality of a frontal process of the maxilla bone.
HP:3000045	Abnormality of genioglossus muscle	An abnormality of a genioglossus muscle.
HP:3000046	Abnormal geniohyoid muscle morphology	An abnormality of a geniohyoid muscle.
HP:3000047	Abnormal glossopharyngeal nerve morphology	Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).
HP:3000048	Abnormal great auricular nerve morphology	Any structural anomaly of a great auricular nerve.
HP:3000049	Abnormal greater palatine artery morphology	An abnormality of a greater palatine artery.
HP:3000050	Abnormal odontoid tissue morphology	An abnormality of an odontoid tissue.
HP:3000051	Abnormal hyoglossus muscle morphology	An abnormality of a hyoglossus muscle.
HP:3000052	Abnormal hyoid bone morphology	Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.
HP:3000053	Abnormal hypopharynx morphology	A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.
HP:3000054	Abnormal inferior alveolar artery morphology	An abnormality of an inferior alveolar artery.
HP:3000055	Abnormality of inferior alveolar nerve	An abnormality of an inferior alveolar nerve.
HP:3000056	Abnormality of artery of lower lip	An abnormality of an artery of lower lip.
HP:3000057	Abnormality of inferior oblique extraocular muscle	An abnormality of an inferior oblique extraocular muscle.
HP:3000058	Abnormality of inferior rectus extraocular muscle	An abnormality of an inferior rectus extraocular muscle.
HP:3000059	Abnormal inferior thyroid vein morphology	An abnormality of an inferior thyroid vein.
HP:3000060	Abnormal infraorbital artery morphology	An abnormality of an infraorbital artery.
HP:3000061	Abnormality of infra-orbital nerve	A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.
HP:3000062	Abnormal internal carotid artery morphology	An abnormality of an internal carotid artery.
HP:3000063	Abnormality of internal jugular vein	An abnormality of an internal jugular vein.
HP:3000064	Abnormality of intrinsic muscle of tongue	An abnormality of an intrinsic muscle of tongue.
HP:3000065	Abnormal lacrimal artery morphology	An abnormality of a lacrimal artery.
HP:3000066	Abnormal lacrimal sac morphology	An abnormality of a lacrimal sac.
HP:3000067	Abnormal lateral cricoarytenoid muscle morphology	Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.
HP:3000068	Abnormality of lateral pterygoid muscle	An abnormality of a lateral pterygoid muscle.
HP:3000069	Abnormality of lateral rectus extra-ocular muscle	An abnormality of a lateral rectus extra-ocular muscle.
HP:3000070	Abnormality of levator anguli oris	An abnormality of a levator anguli oris.
HP:3000071	Abnormality of levator labii superioris	An abnormality of a levator labii superioris.
HP:3000072	Abnormal levator palpebrae superioris morphology	An abnormality of a levator palpebrae superioris.
HP:3000073	Abnormality of levator veli palatini muscle	An abnormality of a levator veli palatini.
HP:3000074	Abnormal lingual artery morphology	Any structural abnormality of a lingual artery.
HP:3000075	Abnormal lingual nerve morphology	Any structural anomaly of a lingual nerve.
HP:3000076	Abnormality of lingual tonsil	An abnormality of a lingual tonsil.
HP:3000077	Abnormal mandible condylar process morphology	An abnormality of a mandible condylar process.
HP:3000078	Abnormal mandible coronoid process morphology	An abnormality of a mandible coronoid process.
HP:3000079	Abnormal mandibular symphysis morphology	A structural abnormality of a mandibular symphysis.
HP:4000001	Abnormal cardiac magnetic resonance imaging finding	Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.
HP:4000003	Elevated myocardial native T2	Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.
HP:4000004	Myocardial late gadolinium enhancement	Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.
HP:4000005	Pericardial late gadolinium enhancement	Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.
HP:4000006	Elevated myocardial native T1	Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.
HP:4000007	Bronchoconstriction	Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.
HP:4000008	Formation of multiple pronuclei during fertilization	Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.
HP:4000009	Kinesiophobia	An excessive, irrational and debilitating fear to carry out a physical movement, due to a feeling of vulnerability to a painful injury or reinjury.
HP:4000010	Impaired renal tubular reabsorption of bicarbonate	Decreased renal tubular reabsorption of bicarbonate.
HP:4000011	History of congenital HPV infection	A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.
HP:4000012	Necrotizing ileitis	
HP:4000013	Anti-desmoglein-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.
HP:4000014	Anti-desmoglein-3 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.
HP:4000015	Anti-envoplakin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.
HP:4000016	Anti-periplakin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin.
HP:4000017	Anti-desmoplakin I antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.
HP:4000018	Anti-desmoplakin II antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.
HP:4000019	Anti-BP230 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.
HP:4000020	Anti-BP180 antibody positivity	Bullous pemphigoid (BP) is an autoimmune disease associated with subepidermal blistering due to autoantibodies directed against BP180 and BP230. BP180 is currently considered as the major pathogenic autoantigen.
HP:4000021	Anti-laminin 332 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.
HP:4000022	Anti-laminin 6 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.
HP:4000023	Anti-laminin gamma1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.
HP:4000024	Anti-laminin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.
HP:4000025	Anti-integrin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion moleculeswith 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.
HP:4000026	Anti-transglutaminase 6 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.
HP:4000027	anti-LAD-1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.
HP:4000028	Anti-LABD97 antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.
HP:4000029	Antigliadin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.
HP:4000030	Anti-reticulin antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.
HP:4000031	Anti-type VII collagen antibody	The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.
HP:4000032	False perception of self-motion	A perception that one's body is moving or swaying despite lack of motion of the body.
HP:4000033	Non-spinning vertigo	A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).
HP:4000034	Infection-associated lymphopenia	Decreased lymphocyte count during infections.
HP:4000035	Primary obstructive megaureter	Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.
HP:4000036	Encysted hydrocele of the cord	A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.
HP:4000037	Congenital hydrocele	Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.
HP:4000038	Infantile hydrocele	Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.
HP:4000039	Reduced proportion of mucosal-associated invariant T cells	A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.
HP:4000040	Puerpural onset	Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following.
HP:4000041	AA amyloidosis	Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.
HP:4000042	Fracture type	Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110).
HP:4000043	Greenstick fracture	A type of fracture in which the broken bone is not completely separated.
HP:4000044	Transverse fracture	A type of fracture in which the break is in a straight line across the bone.
HP:4000045	Spiral fracture	A type of fracture in which the break spirals around the bone.
HP:4000046	Oblique fracture	A type of fracture in which there is a diagonal break across the bone.
HP:4000047	Compression fracture	A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance.
HP:4000048	Comminuted fracture	A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site.
HP:4000049	Segmental fracture	A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone.
HP:4000050	Open fracture	A type of fracture in which there is an open wound or break in the skin near the site of the broken bone.
HP:4000051	Closed fracture	A type of fracture in which the broken bone that does not penetrate the skin.
HP:4000052	Avulsion fracture	A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma.
HP:4000053	Displaced fracture	A type of fracture in which the ends of the fractured bone are no longer aligned.
HP:4000054	Exanthem	A widespread rash.
HP:4000055	Intestinal inflammation	A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.
HP:4000056	Abnormal apoptosis	Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterised by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighbouring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.
HP:4000057	Decreased FasL-mediated apoptosis	A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.
HP:4000058	Glomerular proteinuria	A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.  PMID: 19634399
HP:4000059	Abnormal lung development	A structural defect associated with abnormal development of the lung.
HP:4000060	Abnormal pulmonary alveolar system development	
HP:4000061	Pancreatic alpha-cell hyperplasia	A diffuse and specific increase in the number of alpha-cells.
HP:4000062	3-4 metacarpal synostosis	A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).
HP:4000066	Abnormal iliac artery morphology	Any structural anomaly of the iliac artery.
HP:4000067	Iliac artery aneurysm	Abnormal outpouching or sac-like dilatation in the iliac artery.
HP:4000068	Abnormal interest	Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.
HP:4000069	Persistent preoccupation with parts of objects or unusual objects	A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than driving the toy car.
HP:4000070	Fixated interests	Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
HP:4000072	Abnormal language feature	The presence of any atypical form of expressive language.
HP:4000073	Pronoun reversal	Atypical language feature charaterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.
HP:4000074	Idiosyncratic language	Inappropriate use of words that have no phonological or semantic similarity to the intended word.
HP:4000075	Reduced frequency of facial expressions	The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.
HP:4000076	Use of another person's body to communicate	Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.
HP:4000077	Fixated interest with abnormal focus	A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.
HP:4000078	Fixated interest with abnormal intensity	An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.
HP:4000079	Sensory seeking	Unusual interest in sensory aspects of the environment.
HP:4000080	Reduced social initiation	Failure of a person to initiate social interactions with others. For a social interaction to have been initiated by someone, there must have been an absence of social interactions from either party for a period. The interaction must also be unprompted by another party.
HP:4000081	Reduced production of gestures	Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.
HP:4000082	Reduced collaborative play	Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.
HP:4000083	Reduced interest in peers	Lack of interest of an individual in peers of comparable age and social groups. For example, a child who is only interested in social interactions with adults rather than children their age.
HP:4000084	Reduced sharing of interests	Decreased sharing of interests with others.
HP:4000085	Reduced object sharing	An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects with parents or peers during object play. Object sharing typically develops within the first two years of life.
HP:4000087	Abnormal communicative facial expressions	Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.
HP:4000088	Facial expressions that do not match the context	Production of facial expressions that are misaligned with the social context.
HP:4000089	Abnormal quality of facial expression	Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.
HP:4000090	Abnormal gesture use	Abnormality in use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.
HP:4000092	Poor conversational reciprocity	Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. May be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable.
HP:4000093	Ectopic tooth eruption	A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.
HP:4000094	Corpus cavernosum hypoplasia	A developmental anomaly characterized by undergrowth of the corpus cavernosum.
HP:4000095	Elevated circulating thymine concentration	Concentration of the nucleobase thymine in the blood circulation above the normal range.
HP:4000100	Positive lactose hydrogen breath test	Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas.
HP:4000101	Triggered by exposure to medication	Applies to a sign or symptom that is provoked or brought about by exposure to a medication.
HP:4000102	Triggered by allopurinol	Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol.
HP:4000103	Ameliorated by oral zinc supplementation	Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation.
HP:4000104	Curved dental root	A root of a tooth that is more rounded than normal.
HP:4000105	Abnormal four chamber view of the fetal heart	The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.
HP:4000106	Spleen hamartoma	A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.
HP:4000107	Positive lupus band test	Deposits of immunoglobulins and complement components along the dermoepidermal junction.
HP:4000108	Bone marrow erythroid vacuolization	Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.
HP:4000109	Triggered by electromagnetic field	Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field.
HP:4000110	Exposure history	Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home.
HP:4000111	Asbestos exposure	History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation.
HP:4000112	Medication history	Information about current or past medications taken by an individual.
HP:4000113	Aminoglycoside exposure	History of having taken aminoglycoside antibiotics.
HP:4000114	Statin exposure	History of having taken statins, also known as HMG-CoA reductase inhibitors.
HP:4000115	Potassium-sparing diuretic exposure	History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene.
HP:4000116	Carbamazepine exposure	History of having taken carbamazepine.
HP:4000117	Valproate exposure	History of having taken valproate (valproic acid).
HP:4000118	Hydralazine exposure	History of having taken hydralazine.
HP:4000119	Calcium channel blocker exposure	History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem.
HP:4000120	Triggered by nickel	
HP:4000121	Triggered by poison ivy, poson oak, or sumac	Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis.
HP:4000122	History of exclusive breast feeding	A past medical history of having been fed exclusively by breast feeding.
HP:4000123	Nutrition history	A part of the past medical history consisting of information about the typical food intake of an individual.
HP:4000124	High dietary oxalate intake	A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb.
HP:4000125	Recent honey ingestion	A history of ingestion of honey in recent weeks.
HP:4000126	Raw egg-white ingestion	A history of eating raw egg whites.
HP:4000127	Aggravated by sodium channel blocking agents	Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide.
HP:4000128	Nitric oxide addiction	Addiction to inhaled nitrous oxide gas (N2O).
HP:4000129	Recent blood transfusion	A past medical history of a recent blood transfusion.
HP:4000130	Ameliorated by colchicine	Applies to a sign or symptom that is improved or made more bearable by administration of colchizine.
HP:4000131	Ameliorated by vitamin D	Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D.
HP:4000132	Aggravated by phenytoin	Applied to a sign or symptom that is worsened by administration of phenytoin.
HP:4000133	Triggered by angiotensin-converting enzyme inhibitor	Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril.
HP:4000134	Prostaglandin E1 exposure	History of having been treateed with prostaglandin E1.
HP:4000135	5-fluorouracil exposure	History of having been treated with 5-fluorouracil.
HP:4000136	6-mercaptopurine exposure	History of having been treateed with 6-mercaptopurine.
HP:4000137	Isoniazid exposure	History of having been treateed with isoniazid.
HP:4000138	Absent cavum septum pellucidum	The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.
HP:4000139	Fetal abdominal cyst	Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.
HP:4000140	Fetal bowel dilatation	Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.
HP:4000141	Left ventricular dilatation	Enlargement of the chamber of the left heart ventricle.
HP:4000142	Fetal trigonocephaly	A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.
HP:4000143	Abnormal fetal heart outflow tract	A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.
HP:4000144	Recent past medical history	History of events that precede the current presenting condition and are thought to be of potential relevance, having occured in the hours, days, or weeks before the current condition.
HP:4000145	History of recent viral illness	Medical history of a viral illness in recent weeks.
HP:4000146	History of recent dental procedure	Medical history of a dental procedure in recent weeks.
HP:4000147	Abnormal portal artery morphology	Any structural anomaly of the portal artery.
HP:4000148	Portal artery hyperplasia	Abnormal increase in size of the portal arteries of the liver.
HP:4000149	Lymph node necrosis	Areas of necrotic tissue within a lymph node.
HP:4000150	Multinucleated neuron	Neurons that contain more than one nucleus.
HP:4000151	History of recent cotralateral injury	A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint.
HP:4000152	Alternating laterality	Occuring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras).
HP:4000153	Cervical squamous cell papilloma	A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection.
HP:4000154	Liver leiomyoma	A benign smooth muscle neoplasm that arises in the liver.
HP:4000158	Typified by high penetrance	Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan.
HP:4000159	Typified by moderate penetrance	Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan.
HP:4000160	Typified by low penetrance	Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan.
HP:4000162	Decreased Succinyl-CoA 3-ketoacid CoA transferase activity	Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase.
HP:4000163	Decreased phytanoyl-CoA hydroxylase activity	Reduced activity of the enzyme phytanoyl-CoA hydroxylase, which plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet.
HP:4000164	Reduced bifunctional protein activity	Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids.
HP:4000165	Decreased circulating plasmalogen concentration	Reduced plasmalogen concentration in the blood circulation.
HP:4000166	Post-vaccination varicella zoster virus infection	Infection with live, attenuated varicella-zoster virus following vaccination. This is an extreemely rare event that may indicate immunocompromise.
HP:4000167	Recent steroid exposure	History of having been treated with corticosteroid medications in recent weeks.
HP:4000168	Shark teeth	Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.
HP:4000169	Pontine T2 hypointensity	A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.
HP:4000170	Anti-platelet antigen antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.
HP:4000171	Anti-voltage-gated potassium channel antibody positivity	The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.
HP:4000172	Vegan diet	A history of following a vegan diet characterized by avoidance of food sourced from animals including meet, fish, and dairy products.
HP:4000173	History of previous pregnancy with hydrops fetalis	One or more previous pregnancies in which the fetus developed hydrops fetalis.
HP:4000174	Ameliorated by potassium supplements	Applies to a sign or symptom that is improved or made more bearable by ingesting a potassium supplement.
HP:4000175	Ameliorated by niacin	Applies to a sign or symptom that is improved or made more bearable by ingesting niacin (vitamin B3).
HP:4000176	Aggravated by exposure to medication	Applied to a sign or symptom that is worsened by treatment with a medication.
HP:4000177	Bleeding ameliorated by vitamin K	Applies to bleeding that is significantly reduced by treatment with vitamin K.
HP:4000178	Anti-retroviral therapy exposure	History of having been treated with an antiretroviral agent.
HP:4000179	Potassium-wasting diuretic exposure	History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics.
HP:4000180	Tricyclic antidepressant exposure	History of having been treated with a tricyclic antidepressant medication.
HP:4000181	Excessive dental attrition	A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.
HP:4000182	Positionally dependent pain	Pain improves or worsens with changes in body position.
HP:5000000	Anti-AK5 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).
HP:5000001	Anti-AMPAR antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).
HP:5000002	Anti-Amphiphysin antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.
HP:5000003	Anti-ARHGAP26 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).
HP:5000004	Anti-CARP VIII antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).
HP:5000005	Anti-CASPR2	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).
HP:5000006	Anti-CV2/CRMP5 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.
HP:5000007	Anti-DPPX antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).
HP:5000008	Anti-FGFR3 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.
HP:5000009	Anti-GABA(A)R antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.
HP:5000010	Anti-GABA(B)R antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.
HP:5000011	Anti-GAD65 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).
HP:5000012	Anti-Gephyrin antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.
HP:5000013	Anti-GFAP antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).
HP:5000014	Anti-GlyR antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).
HP:5000015	Anti-Homer-3 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.
HP:5000016	Anti-Hu antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.
HP:5000017	Anti-Iglon5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).
HP:5000018	Anti-ITPR1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).
HP:5000019	Anti-Kelch like protein 11 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).
HP:5000020	Anti-LGI1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).
HP:5000021	Anti-Ma antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.
HP:5000022	Anti-Ma2 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.
HP:5000023	Anti-Ma1 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.
HP:5000024	Anti-mGluR1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).
HP:5000025	Anti-mGluR5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).
HP:5000026	Anti-neurexin-3alpha antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.
HP:5000027	Anti-P/Q-type VGCC antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).
HP:5000028	Anti-MAP1B antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).
HP:5000029	Anti-PKCgamma antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.
HP:5000030	Anti-Ri antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, ,an antineuronal antibody.
HP:5000031	Anti-Septin-5 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.
HP:5000032	Anti-SEZ6L2 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).
HP:5000033	Anti-SOX1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.
HP:5000034	Anti-Tr/DNER antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.
HP:5000035	Anti-TRIM46 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).
HP:5000036	Anti-TRIM9/TRIM67 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.
HP:5000037	Anti-Yo antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.
HP:5000038	Anti-titin antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.
HP:5000039	Anti-Zic4 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).
HP:5000042	Anti-Sj/ITPR1 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.
HP:5000043	Anti-D2 R antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.
HP:5000044	Anti-GluK2 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).
HP:5000046	Anti-Lrp4 antibody positivity	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).
HP:5000047	Anti-ryanodine receptor antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.
HP:5000048	Anti-Kv1.4 antibody	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.
HP:5200001	Selective mutism	Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.
HP:5200002	Limited repertoire of facial expression	An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.
HP:5200003	Excessive interest in others	An unusually strong interest in others in general or tendency to develop a strong interest in certain individuals.
HP:5200004	Reduced interest in others	A reduced interest in all people including both peers and non-peers.
HP:5200005	Abnormal pitch	Abnormally high or low-pitched vocalization or speech.
HP:5200006	Loose association	Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.
HP:5200007	Neologism	Consistent use of an invented term, word, or phrase that is idiosyncratic to the individual.
HP:5200008	Overly formal/pedantic language	Use of language that is overly formal, precise, detailed, or pedantic for the social context.
HP:5200009	Midline hand movements	Hand stereotypies within the medial plane of the body.
HP:5200010	Abnormal Intonation	Abnormal rise and fall of the voice in speech and vocalization.
HP:5200011	Abnormal speech rate	Speech that is abnormally fast or slow
HP:5200012	Abnormal speech rhythm	Speech with abnormal rhythm or pattern
HP:5200013	Ambiguous facial expression	Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.
HP:5200014	Exaggerated facial expression	A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.
HP:5200015	Muted facial expression	A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.
HP:5200016	Abnormal peer relationships	The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.
HP:5200017	Abnormal movements of face and head	Abnormal movements of face and head.
HP:5200018	Abnormal movements of the upper extremities	Abnormal movements of the upper extremities.
HP:5200019	Abnormal movements of the whole body	Abnormal movements of the whole body.
HP:5200020	Abnormal interest in others	A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.
HP:5200021	Reduced social insight	A lack of awareness or failure to apply social rules in multiple social settings which are simple or intuitive to others in the same social setting.
HP:5200022	Reduced awareness of convention	Reduced awareness of expected conventions which are normal and expected for particular social settings or interactions.
HP:5200024	Abnormal relationship	The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.
HP:5200025	Abnormal social awareness	Reduced or lack of awareness of social cues or context as is appropriate given social and cultural norms.
HP:5200026	Abnormal social imitation	An inability to imitate a task or the movements of others.
HP:5200027	Abnormal social initiation	An abnormality in one's tendency to initiate social interactions.
HP:5200028	Abnormal social response	Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).
HP:5200029	Social disinhibition	A lack of social constraint shown when one acts on tendencies or desires when doing so breaks a social rule or norm. For example, when someone asks personal questions because of their curiosity, despite their private nature and the discomfort the questions may cause others.
HP:5200030	Diminished integration of verbal and non-verbal communicative behavior	A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.
HP:5200031	Deferred imitation of others	An inability to imitate a task or the movements of others for a period of time (such as an hour) after one has seen the task or movement.
HP:5200032	Reduced immediate imitation of others	An inability to imitate a task or the movements immediately after one has seen the task or movement.
HP:5200035	Reduced collaborative imaginative play	Failure of a child to integrate with peers in imaginative play.
HP:5200036	Lack of response to verbal cues	A consistent failure to make any response to verbal cues.
HP:5200037	Reduced sympathetic expression	A reduction in producing a sympathetic response where a sympathetic response may expect, such as providing comfort when someone is sad or crying.
HP:5200038	Bradylalia	Slow speech.
HP:5200039	Speech too loud for context	Speech too loud for context.
HP:5200040	Speech too soft for context	Speech too soft for context.
HP:5200043	Abnormal speech volume	Speech that is abnormally loud or quiet for the social context in which it is spoken.
HP:5200044	Reduced attention regulation	Abnormality in one's ability to control their attention toward a specific subject or task. This could include the inability to change attention or hold attention.
HP:5200045	Reduced impulse control	Reduced ability to control, or a failure to resist a temptation, urge, or impulse.
HP:5200046	Sensory behavioral abnormality	Abnormal behavior consisting seeking specific sensory stimulation or an abnormal avoidance of a specific sensory stimulation.
HP:5200047	Idiosyncratic gesture	When one uses gestures that are unique to them and have no apparent meaning to others.
HP:5200049	Atypical sorting	Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.
HP:5200050	Excessive checking	Checking behavior that is excessive for the situational context.
HP:5200051	Excessive hand washing	Hand washing behavior that is excessive for the situational context.
HP:5200052	Resistance to trivial environmental changes	Distress in response to violations of one's environmental expectations.
HP:5200053	Lack of nonverbal response to verbal cues	A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue.
HP:5200054	Lack of verbal response to verbal cues	A consistent failure to verbally respond to verbal cues which are intended to elicit a verbal response.
HP:5200055	Reduced co-speech gestures	Reduced use of speech-integrated gestures such as the use of beat gestures.
HP:5200056	Limited head nodding or shaking	Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".
HP:5200057	Limited pointing	Absence or reduction in the use of pointing to direct another's attention.
HP:5200058	Sensory hypersensitivity	A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.
HP:5200059	Sensory hyposensitivity unexplained by sensory deficit	Increased tolerance to sensory stimuli due to diminished sensory ability.
HP:5200060	Auditory hypersensitivity	Hyperresponsive to sound that is abnormal in intensity and/or frequency.
HP:5200061	Tactile hypersensitivity	A decreased tolerance to physical touch.
HP:5200062	Auditory sensory seeking	Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.
HP:5200063	Gustatory sensory seeking	Pursuit of a particular taste that is abnormal in intensity and/or frequency.
HP:5200064	Olfactory sensory seeking	Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.
HP:5200065	Tactile sensory seeking	Pursuit of a specific texture that is abnormal in intensity and/or frequency.
HP:5200066	Vestibular sensory seeking	Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.
HP:5200067	Visual sensory seeking	Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.
HP:5200068	Socially innappropriate questionning	A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.
HP:5200069	Spinning	An excessive frequency of spinning one's body.
HP:5200071	Delayed Echolalia	Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.
HP:5200072	Immediate Echolalia	Immediate repetition of another person's speech.
HP:5200073	Excessive cleaning	Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.
HP:5201000	Incomplete unilateral cleft lip	Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.
HP:5201001	Complete unilateral cleft lip	Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.
HP:5201002	Microform unilateral cleft lip	Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.
HP:5201003	Complete cleft hard palate	Cleft hard palate in which the cleft goes through the entire length of the hard palate.
HP:5201004	Incomplete cleft hard palate	Cleft hard palate in which the cleft doe not goes through the entire length of the hard palate.
HP:5201005	Complete cleft soft palate	Cleft soft palate in which the cleft goes through the entire length of the soft palate.
HP:5201006	Incomplete cleft soft palate	Cleft soft palate in which the cleft doe not goes through the entire length of the soft palate.
HP:5201007	Incomplete cleft maxillary alveolar ridge	Unilateral cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.
part_of	part of	Unilateral cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.
