id	name	category	provided_by	xrefs	subsets	synonym	iri	description
HP:0000001	All	biolink:PhenotypicFeature	hp	UMLS:C0444868			http://purl.obolibrary.org/obo/HP_0000001	
HP:0000002	Abnormality of body height	biolink:PhenotypicFeature	hp	UMLS:C4025901		Abnormality of body height	http://purl.obolibrary.org/obo/HP_0000002	Deviation from the norm of height with respect to that which is expected according to age and gender norms.
HP:0000003	Multicystic kidney dysplasia	biolink:PhenotypicFeature	hp	MSH:D021782|SNOMEDCT_US:204962002|SNOMEDCT_US:82525005|UMLS:C3714581		Multicystic dysplastic kidney|Multicystic kidneys|Multicystic renal dysplasia	http://purl.obolibrary.org/obo/HP_0000003	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	biolink:PhenotypicFeature	hp	UMLS:C1708511		Inheritance	http://purl.obolibrary.org/obo/HP_0000005	The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
HP:0000006	Autosomal dominant inheritance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:263681008|UMLS:C0443147		Autosomal dominant|Autosomal dominant form|Autosomal dominant type	http://purl.obolibrary.org/obo/HP_0000006	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:258211005|UMLS:C0441748|UMLS:C4020899		Autosomal recessive|Autosomal recessive form|Autosomal recessive predisposition	http://purl.obolibrary.org/obo/HP_0000007	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	biolink:PhenotypicFeature	hp	UMLS:C4025900		Abnormality of female internal genitalia	http://purl.obolibrary.org/obo/HP_0000008	An abnormality of the female internal genitalia.
HP:0000009	Functional abnormality of the bladder	biolink:PhenotypicFeature	hp	UMLS:C3806583		Poor bladder function	http://purl.obolibrary.org/obo/HP_0000009	Dysfunction of the urinary bladder.
HP:0000010	Recurrent urinary tract infections	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197927001|UMLS:C0262655		Recurrent UTIs|Frequent urinary tract infections|Repeated bladder infections|Repeated urinary tract infections|Urinary tract infections|Urinary tract infections, recurrent	http://purl.obolibrary.org/obo/HP_0000010	Repeated infections of the urinary tract.
HP:0000011	Neurogenic bladder	biolink:PhenotypicFeature	hp	MSH:D001750|SNOMEDCT_US:397732007|SNOMEDCT_US:398064005|UMLS:C0005697		Lack of bladder control due to nervous system injury	http://purl.obolibrary.org/obo/HP_0000011	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75088002|UMLS:C0085606|UMLS:C3544092|UMLS:C4020898		Overactive bladder|Urinary urgency|Overactive bladder syndrome|Urgency frequency syndrome	http://purl.obolibrary.org/obo/HP_0000012	Urge incontinence is the strong, sudden need to urinate.
HP:0000013	Hypoplasia of the uterus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:35850006|UMLS:C0266399		Small uterus|Underdeveloped uterus|Hypoplastic uterus|Rudimentary uterus	http://purl.obolibrary.org/obo/HP_0000013	Underdevelopment of the uterus.
HP:0000014	Abnormality of the bladder	biolink:PhenotypicFeature	hp	UMLS:C0149632			http://purl.obolibrary.org/obo/HP_0000014	An abnormality of the urinary bladder.
HP:0000015	Bladder diverticulum	biolink:PhenotypicFeature	hp	MSH:C562406|SNOMEDCT_US:197866008|UMLS:C0156273		Bladder diverticula	http://purl.obolibrary.org/obo/HP_0000015	Diverticulum (sac or pouch) in the wall of the urinary bladder.
HP:0000016	Urinary retention	biolink:PhenotypicFeature	hp	MSH:D016055|SNOMEDCT_US:130951007|SNOMEDCT_US:267064002|SNOMEDCT_US:449491000124101|UMLS:C0080274		Increased post-void residual urine volume	http://purl.obolibrary.org/obo/HP_0000016	Inability to completely empty the urinary bladder during the process of urination.
HP:0000017	Nocturia	biolink:PhenotypicFeature	hp	MSH:D053158|SNOMEDCT_US:139394000|UMLS:C0028734		Nycturia	http://purl.obolibrary.org/obo/HP_0000017	Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
HP:0000019	Urinary hesitancy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5972002|UMLS:C0152032		Difficulty with flow	http://purl.obolibrary.org/obo/HP_0000019	Difficulty in beginning the process of urination.
HP:0000020	Urinary incontinence	biolink:PhenotypicFeature	hp	MSH:D014549|SNOMEDCT_US:165232002|UMLS:C0042024		Loss of bladder control|Bladder incontinence	http://purl.obolibrary.org/obo/HP_0000020	Loss of the ability to control the urinary bladder leading to involuntary urination.
HP:0000021	Megacystis	biolink:PhenotypicFeature	hp	MSH:C536139|UMLS:C1855311			http://purl.obolibrary.org/obo/HP_0000021	Dilatation of the bladder postnatally.
HP:0000022	Abnormality of male internal genitalia	biolink:PhenotypicFeature	hp	UMLS:C4025899			http://purl.obolibrary.org/obo/HP_0000022	An abnormality of the male internal genitalia.
HP:0000023	Inguinal hernia	biolink:PhenotypicFeature	hp	MEDDRA:10022016|MSH:D006552|SNOMEDCT_US:396232000|UMLS:C0019294	hposlim_core		http://purl.obolibrary.org/obo/HP_0000023	Protrusion of the contents of the abdominal cavity through the inguinal canal.
HP:0000024	Prostatitis	biolink:PhenotypicFeature	hp	MSH:D011472|SNOMEDCT_US:9713002|UMLS:C0033581		Inflammation of the prostate	http://purl.obolibrary.org/obo/HP_0000024	The presence of inflammation of the prostate.
HP:0000025	Functional abnormality of male internal genitalia	biolink:PhenotypicFeature	hp	UMLS:C4025898			http://purl.obolibrary.org/obo/HP_0000025	
HP:0000026	Male hypogonadism	biolink:PhenotypicFeature	hp	MSH:D005058|SNOMEDCT_US:48723006|UMLS:C0151721		Decreased function of male gonad	http://purl.obolibrary.org/obo/HP_0000026	Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.
HP:0000027	Azoospermia	biolink:PhenotypicFeature	hp	MSH:D053713|SNOMEDCT_US:425558002|SNOMEDCT_US:48188009|UMLS:C0004509		Absent sperm in semen	http://purl.obolibrary.org/obo/HP_0000027	Absence of any measurable level of sperm in his semen.
HP:0000028	Cryptorchidism	biolink:PhenotypicFeature	hp	Fyler:4493|MSH:D003456|SNOMEDCT_US:204878001|UMLS:C0010417		Undescended testes|Undescended testis|Cryptorchism	http://purl.obolibrary.org/obo/HP_0000028	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17585008|UMLS:C0156312		Testicular degeneration	http://purl.obolibrary.org/obo/HP_0000029	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	biolink:PhenotypicFeature	hp	NCIT:C3754|UMLS:C1515283		Gonadoblastoma, male	http://purl.obolibrary.org/obo/HP_0000030	The presence of a gonadoblastoma of the testis.
HP:0000031	Epididymitis	biolink:PhenotypicFeature	hp	MSH:D004823|SNOMEDCT_US:31070006|UMLS:C0014534			http://purl.obolibrary.org/obo/HP_0000031	The presence of inflammation of the epididymis.
HP:0000032	Abnormality of male external genitalia	biolink:PhenotypicFeature	hp	UMLS:C4025897			http://purl.obolibrary.org/obo/HP_0000032	An abnormality of male external genitalia.
HP:0000033	Ambiguous genitalia, male	biolink:PhenotypicFeature	hp	UMLS:C4021823		Ambiguous genitalia in males	http://purl.obolibrary.org/obo/HP_0000033	Ambiguous genitalia in an individual with XY genetic gender.
HP:0000034	Hydrocele testis	biolink:PhenotypicFeature	hp	MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|SNOMEDCT_US:55434001|UMLS:C1720771		Hydrocele|Testicular hydrocele	http://purl.obolibrary.org/obo/HP_0000034	Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
HP:0000035	Abnormal testis morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:55631001|UMLS:C0266423		Abnormality of the testis|Anomaly of the testes	http://purl.obolibrary.org/obo/HP_0000035	An anomaly of the testicle (the male gonad).
HP:0000036	Abnormal penis morphology	biolink:PhenotypicFeature	hp	UMLS:C4025896		Abnormality of the penis	http://purl.obolibrary.org/obo/HP_0000036	Abnormality of the male external sex organ.
HP:0000037	Male pseudohermaphroditism	biolink:PhenotypicFeature	hp	MSH:D058490|SNOMEDCT_US:111332007|UMLS:C0238395			http://purl.obolibrary.org/obo/HP_0000037	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:406477003|UMLS:C0563449			http://purl.obolibrary.org/obo/HP_0000039	Displacement of the urethral opening on the dorsal (superior) surface of the penis.
HP:0000040	Long penis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:88673001|UMLS:C0269011		Enlarged penis|Long penis	http://purl.obolibrary.org/obo/HP_0000040	Penile length more than 2 SD above the mean for age.
HP:0000041	Chordee	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4287008|UMLS:C0221182			http://purl.obolibrary.org/obo/HP_0000041	Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
HP:0000042	Absent external genitalia	biolink:PhenotypicFeature	hp	UMLS:C1848869		Absent external genitalia	http://purl.obolibrary.org/obo/HP_0000042	Lack of external genitalia in a male or female individual.
HP:0000044	Hypogonadotropic hypogonadism	biolink:PhenotypicFeature	hp	MSH:D007006|SNOMEDCT_US:33927004|UMLS:C0271623|UMLS:C3489396		Hypogonadotrophic hypogonadism|Low gonadotropins (secondary hypogonadism)|Isolated hypogonadotropic hypogonadism	http://purl.obolibrary.org/obo/HP_0000044	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	biolink:PhenotypicFeature	hp	UMLS:C4025895			http://purl.obolibrary.org/obo/HP_0000045	
HP:0000046	Scrotal hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204912007|UMLS:C0431659		Smaller than typical growth of scrotum|Hypoplastic scrotum	http://purl.obolibrary.org/obo/HP_0000046	
HP:0000047	Hypospadias	biolink:PhenotypicFeature	hp	Fyler:4504|SNOMEDCT_US:204888000|UMLS:C1691215		Hypospadia	http://purl.obolibrary.org/obo/HP_0000047	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236780002|UMLS:C0341787		Cleft of scrotum|Scrotal cleft	http://purl.obolibrary.org/obo/HP_0000048	Midline indentation or cleft of the scrotum.
HP:0000049	Shawl scrotum	biolink:PhenotypicFeature	hp	UMLS:C1858539		Scrotum surrounds penis|Overriding scrotum	http://purl.obolibrary.org/obo/HP_0000049	Superior margin of the scrotum superior to the base of the penis.
HP:0000050	Hypoplastic male external genitalia	biolink:PhenotypicFeature	hp	UMLS:C1852534		Small male external genitalia|Underdeveloped male genitalia|Hypoplastic male genitalia	http://purl.obolibrary.org/obo/HP_0000050	Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
HP:0000051	Perineal hypospadias	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204890004|UMLS:C0452148			http://purl.obolibrary.org/obo/HP_0000051	Hypospadias with location of the urethral meatus in the perineal region.
HP:0000052	Urethral atresia, male	biolink:PhenotypicFeature	hp	UMLS:C4025894			http://purl.obolibrary.org/obo/HP_0000052	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.
HP:0000053	Macroorchidism	biolink:PhenotypicFeature	hp	UMLS:C1263023		Large testis|Large testicles	http://purl.obolibrary.org/obo/HP_0000053	The presence of abnormally large testes.
HP:0000054	Micropenis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34911001|UMLS:C4551492		Short penis|Small penis	http://purl.obolibrary.org/obo/HP_0000054	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	biolink:PhenotypicFeature	hp	UMLS:C4021822		Abnormal female external genitalia	http://purl.obolibrary.org/obo/HP_0000055	An abnormality of the female external genitalia.
HP:0000056	Abnormality of the clitoris	biolink:PhenotypicFeature	hp	UMLS:C4025893		Abnormality of the clit	http://purl.obolibrary.org/obo/HP_0000056	An abnormality of the clitoris.
HP:0000057	obsolete Clitoromegaly	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000057	
HP:0000058	Abnormal labia morphology	biolink:PhenotypicFeature	hp	UMLS:C4025892		Abnormality of the labia	http://purl.obolibrary.org/obo/HP_0000058	An anomaly of the labia, the externally visible portions of the vulva.
HP:0000059	Hypoplastic labia majora	biolink:PhenotypicFeature	hp	SNOMEDCT_US:289469003|UMLS:C0566899		Small labia majora|Underdeveloped vaginal lips|Hypoplasia of labia majora	http://purl.obolibrary.org/obo/HP_0000059	Undergrowth of the outer labia.
HP:0000060	Clitoral hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1844527		Small clitoris|Underdeveloped clit|Hypoplastic clitoris	http://purl.obolibrary.org/obo/HP_0000060	Developmental hypoplasia of the clitoris.
HP:0000061	Ambiguous genitalia, female	biolink:PhenotypicFeature	hp	UMLS:C1859980|UMLS:C4025891		Atypical appearance of female genitals|Ambiguous genitalia due to virilization	http://purl.obolibrary.org/obo/HP_0000061	Ambiguous genitalia in an individual with XX genetic gender.
HP:0000062	Ambiguous genitalia	biolink:PhenotypicFeature	hp	MSH:D012734|SNOMEDCT_US:21321009|UMLS:C0266362		Ambiguous external genitalia|Ambiguous external genitalia at birth|Intersex genitalia	http://purl.obolibrary.org/obo/HP_0000062	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	biolink:PhenotypicFeature	hp	UMLS:C1837532		Fused inner lips	http://purl.obolibrary.org/obo/HP_0000063	Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.
HP:0000064	Hypoplastic labia minora	biolink:PhenotypicFeature	hp	UMLS:C1849295		Underdeveloped inner lips	http://purl.obolibrary.org/obo/HP_0000064	
HP:0000065	Labial hypertrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16924008|UMLS:C0404531		Enlargement of the labia|Enlargement of the vaginal lips|Enlarged vaginal lips	http://purl.obolibrary.org/obo/HP_0000065	
HP:0000066	Labial hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1850325		Underdeveloped labia|Hypoplastic labia	http://purl.obolibrary.org/obo/HP_0000066	
HP:0000067	Urethral atresia, female	biolink:PhenotypicFeature	hp	UMLS:C4025890			http://purl.obolibrary.org/obo/HP_0000067	Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.
HP:0000068	Urethral atresia	biolink:PhenotypicFeature	hp	UMLS:C1610065		Absent urethral opening|Urethral opening absent	http://purl.obolibrary.org/obo/HP_0000068	Congenital anomaly characterized by closure or failure to develop an opening in the urethra.
HP:0000069	Abnormality of the ureter	biolink:PhenotypicFeature	hp	UMLS:C1840382		Abnormality of the ureters|Ureter issue|Ureteral anomalies	http://purl.obolibrary.org/obo/HP_0000069	An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.
HP:0000070	Ureterocele	biolink:PhenotypicFeature	hp	MSH:D014518|SNOMEDCT_US:12818004|UMLS:C0041960			http://purl.obolibrary.org/obo/HP_0000070	A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
HP:0000071	Ureteral stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95574003|UMLS:C0521618		Narrowing of the ureter	http://purl.obolibrary.org/obo/HP_0000071	The presence of a stenotic, i.e., constricted ureter.
HP:0000072	Hydroureter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69758005|SNOMEDCT_US:95576001|UMLS:C0521620|UMLS:C4020897		Megaureter|Swelling of ureter|Ureteral dilatation|Uroureter	http://purl.obolibrary.org/obo/HP_0000072	The distention of the ureter with urine.
HP:0000073	Ureteral duplication	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49496001|UMLS:C0221365		Double ureter	http://purl.obolibrary.org/obo/HP_0000073	A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
HP:0000074	Ureteropelvic junction obstruction	biolink:PhenotypicFeature	hp	MSH:C537373|SNOMEDCT_US:95575002|UMLS:C0521619		Pelviureteric junction obstruction|Ureteropelvic junction stenosis	http://purl.obolibrary.org/obo/HP_0000074	Blockage of urine flow from the renal pelvis to the proximal ureter.
HP:0000075	Renal duplication	biolink:PhenotypicFeature	hp	SNOMEDCT_US:30275001|UMLS:C0266298		Extra kidney|Supernumerary kidney	http://purl.obolibrary.org/obo/HP_0000075	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	biolink:PhenotypicFeature	hp	Fyler:4510|MSH:D014718|SNOMEDCT_US:197811007|UMLS:C0042580		Ureteral reflux|Ureteric reflux|Vesico-ureteral reflux|Vesicoureteric reflux	http://purl.obolibrary.org/obo/HP_0000076	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	biolink:PhenotypicFeature	hp	MSH:D007674|SNOMEDCT_US:44513007|SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C0266292		Abnormal kidney|Abnormality of the kidney|Renal anomalies|Renal anomaly	http://purl.obolibrary.org/obo/HP_0000077	An abnormality of the kidney.
HP:0000078	Abnormality of the genital system	biolink:PhenotypicFeature	hp	UMLS:C0281966|UMLS:C0744356		Genital abnormalities|Genital abnormality|Genital anomalies|Genital defects|Abnormality of the reproductive system	http://purl.obolibrary.org/obo/HP_0000078	An abnormality of the genital system.
HP:0000079	Abnormality of the urinary system	biolink:PhenotypicFeature	hp	UMLS:C4021821		Urinary tract abnormalities|Urinary tract abnormality|Urinary tract anomalies	http://purl.obolibrary.org/obo/HP_0000079	An abnormality of the urinary system.
HP:0000080	Abnormality of reproductive system physiology	biolink:PhenotypicFeature	hp	UMLS:C4020896|UMLS:C4021820		Abnormality of genital physiology|Abnormality of reproductive system physiology|Genital functional abnormality	http://purl.obolibrary.org/obo/HP_0000080	An abnormal functionality of the genital system.
HP:0000081	Duplicated collecting system	biolink:PhenotypicFeature	hp	UMLS:C1858565		Double collecting system|Double urinary collecting systems on intravenous pyelography|Duplex collecting system|Duplicated renal collecting system	http://purl.obolibrary.org/obo/HP_0000081	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	biolink:PhenotypicFeature	hp	MSH:D051437|SNOMEDCT_US:236423003|SNOMEDCT_US:42399005|UMLS:C0035078|UMLS:C1565489|UMLS:C1839604		Renal failure|Renal failure in adulthood	http://purl.obolibrary.org/obo/HP_0000083	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	biolink:PhenotypicFeature	hp	Fyler:4507|MSH:D000069337|SNOMEDCT_US:41729002|UMLS:C0221353		Horseshoe kidney|Horseshoe kidneys|Fused kidneys	http://purl.obolibrary.org/obo/HP_0000085	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16507009|UMLS:C0238207		Abnormal kidney location|Displaced kidney|Ectopic kidneys|Renal ectopia	http://purl.obolibrary.org/obo/HP_0000086	A developmental defect in which a kidney is located in an abnormal anatomic position.
HP:0000089	Renal hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:32659003|UMLS:C0266295		Small kidneys|Underdeveloped kidneys|Hypoplastic kidney|Hypoplastic kidneys	http://purl.obolibrary.org/obo/HP_0000089	Hypoplasia of the kidney.
HP:0000090	Nephronophthisis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204958008|UMLS:C0687120		juvenile nephronophthisis	http://purl.obolibrary.org/obo/HP_0000090	Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
HP:0000091	Abnormal renal tubule morphology	biolink:PhenotypicFeature	hp	UMLS:C4021826		Abnormality of the renal tubule|Morphologic abnormality of the renal tubules	http://purl.obolibrary.org/obo/HP_0000091	An abnormality of the renal tubules.
HP:0000092	Renal tubular atrophy	biolink:PhenotypicFeature	hp	UMLS:C1858395		Renal tubular cell atrophy|Tubular atrophy	http://purl.obolibrary.org/obo/HP_0000092	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	biolink:PhenotypicFeature	hp	MSH:D011507|SNOMEDCT_US:29738008|UMLS:C0033687		High urine protein levels|Protein in urine	http://purl.obolibrary.org/obo/HP_0000093	Increased levels of protein in the urine.
HP:0000095	Abnormal renal glomerulus morphology	biolink:PhenotypicFeature	hp	UMLS:C4025889		Abnormality of renal glomerulus morphology|Morphologic abnormality of the renal glomerulus	http://purl.obolibrary.org/obo/HP_0000095	A structural anomaly of the glomerulus.
HP:0000096	Glomerular sclerosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197661001|SNOMEDCT_US:82646005|UMLS:C0178664		Renal glomerular fibrosis|Glomerulosclerosis	http://purl.obolibrary.org/obo/HP_0000096	Accumulation of scar tissue within the glomerulus.
HP:0000097	Focal segmental glomerulosclerosis	biolink:PhenotypicFeature	hp	MSH:D005923|SNOMEDCT_US:236403004|SNOMEDCT_US:25821008|UMLS:C0017668		Focal and segmental glomerular sclerosis|Focal and segmental glomerulosclerosis|focal glomerulosclerosis	http://purl.obolibrary.org/obo/HP_0000097	Segmental accumulation of scar tissue in individual (but not all) glomeruli.
HP:0000098	Tall stature	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248328003|UMLS:C0241240		Increased body height|Tall stature|Accelerated linear growth|Increased linear growth	http://purl.obolibrary.org/obo/HP_0000098	A height above that which is expected according to age and gender norms.
HP:0000099	Glomerulonephritis	biolink:PhenotypicFeature	hp	MSH:D005921|SNOMEDCT_US:36171008|UMLS:C0017658		Glomerular nephritis	http://purl.obolibrary.org/obo/HP_0000099	Inflammation of the renal glomeruli.
HP:0000100	Nephrotic syndrome	biolink:PhenotypicFeature	hp	MSH:D009404|SNOMEDCT_US:52254009|UMLS:C0027726		Nephrosis	http://purl.obolibrary.org/obo/HP_0000100	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	biolink:PhenotypicFeature	hp	MSH:D011141|SNOMEDCT_US:28442001|SNOMEDCT_US:56574000|SNOMEDCT_US:718402002|UMLS:C0032617		Increased urine output	http://purl.obolibrary.org/obo/HP_0000103	An increased rate of urine production.
HP:0000104	Renal agenesis	biolink:PhenotypicFeature	hp	Fyler:4503|SNOMEDCT_US:204942005|UMLS:C0542519		Absent kidney|Missing kidney|Renal aplasia	http://purl.obolibrary.org/obo/HP_0000104	Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
HP:0000105	Enlarged kidney	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300444006|UMLS:C0542518		Enlarged kidney|Large kidneys|Nephromegaly|Renal enlargement|Large kidney	http://purl.obolibrary.org/obo/HP_0000105	An abnormal increase in the size of the kidney.
HP:0000107	Renal cyst	biolink:PhenotypicFeature	hp	MSH:D052177|UMLS:C0022679|UMLS:C3887499		Kidney cyst|Cystic kidney disease|Cystic kidneys|Renal cysts	http://purl.obolibrary.org/obo/HP_0000107	A fluid filled sac in the kidney.
HP:0000108	Renal corticomedullary cysts	biolink:PhenotypicFeature	hp	UMLS:C1968619		Corticomedullary renal cysts|Renal corticomedullary cystic disease	http://purl.obolibrary.org/obo/HP_0000108	The presence of multiple cysts at the border between the renal cortex and medulla.
HP:0000110	Renal dysplasia	biolink:PhenotypicFeature	hp	MSH:C563261|SNOMEDCT_US:204949001|UMLS:C1619700|UMLS:C3536714		Dysplastic kidneys|Renal adysplasia	http://purl.obolibrary.org/obo/HP_0000110	The presence of developmental dysplasia of the kidney.
HP:0000111	Renal juxtaglomerular cell hypertrophy/hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C1866496			http://purl.obolibrary.org/obo/HP_0000111	Increased number and size of the juxtaglomerular cells.
HP:0000112	Nephropathy	biolink:PhenotypicFeature	hp	MSH:D007674|SNOMEDCT_US:90708001|UMLS:C0022658|UMLS:C1408258		Kidney damage|Kidney disease	http://purl.obolibrary.org/obo/HP_0000112	A nonspecific term referring to disease or damage of the kidneys.
HP:0000113	Polycystic kidney dysplasia	biolink:PhenotypicFeature	hp	Fyler:4508|MSH:D007690|SNOMEDCT_US:82525005|UMLS:C0022680|UMLS:C1567435		Enlarged polycystic kidneys|Polycystic kidneys|Polycystic kidney disease	http://purl.obolibrary.org/obo/HP_0000113	The presence of multiple cysts in both kidneys.
HP:0000114	Proximal tubulopathy	biolink:PhenotypicFeature	hp	UMLS:C1839603		Proximal renal tubule defect|Proximal renal tubulopathy|Proximal tubular defect|Proximal tubule dysfunction|Selective proximal tubular damage	http://purl.obolibrary.org/obo/HP_0000114	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	biolink:PhenotypicFeature	hp	UMLS:C1845169		Decreased renal tubular phosphate reabsorption|Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate|Tubular phosphate reabsorption low	http://purl.obolibrary.org/obo/HP_0000117	High urine phosphate in the presence of hypophosphatemia.
HP:0000118	Phenotypic abnormality	biolink:PhenotypicFeature	hp	UMLS:C4021819		Organ abnormality	http://purl.obolibrary.org/obo/HP_0000118	A phenotypic abnormality.
HP:0000119	Abnormality of the genitourinary system	biolink:PhenotypicFeature	hp	MSH:D014564|SNOMEDCT_US:287085006|SNOMEDCT_US:42030000|UMLS:C0042063|UMLS:C0080276|UMLS:C4020895		Abnormality of the GU system|Genitourinary abnormality|Genitourinary tract anomalies|Genitourinary tract malformation|Urogenital abnormalities|Urogenital anomalies|Genitourinary disease|Genitourinary dysplasia	http://purl.obolibrary.org/obo/HP_0000119	The presence of any abnormality of the genitourinary system.
HP:0000121	Nephrocalcinosis	biolink:PhenotypicFeature	hp	MSH:D009397|SNOMEDCT_US:48638002|UMLS:C0027709|UMLS:C4280679		Too much calcium deposited in kidneys|Increased calcium level in kidney	http://purl.obolibrary.org/obo/HP_0000121	Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
HP:0000122	Unilateral renal agenesis	biolink:PhenotypicFeature	hp	Fyler:4509|SNOMEDCT_US:55726006|UMLS:C0266294		Absent kidney on one side|Missing one kidney|Single kidney|Unilateral kidney agenesis	http://purl.obolibrary.org/obo/HP_0000122	A unilateral form of agenesis of the kidney.
HP:0000123	Nephritis	biolink:PhenotypicFeature	hp	MSH:D009393|SNOMEDCT_US:52845002|UMLS:C0027697		Kidney inflammation	http://purl.obolibrary.org/obo/HP_0000123	The presence of inflammation affecting the kidney.
HP:0000124	Renal tubular dysfunction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95568003|UMLS:C0151747		Abnormal function of filtrating structures in kidney|Renal tubular defect|Renal tubular disease	http://purl.obolibrary.org/obo/HP_0000124	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:56108007|UMLS:C0221209		Sacral kidney	http://purl.obolibrary.org/obo/HP_0000125	A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
HP:0000126	Hydronephrosis	biolink:PhenotypicFeature	hp	Fyler:4502|MSH:D006869|SNOMEDCT_US:43064006|UMLS:C0020295			http://purl.obolibrary.org/obo/HP_0000126	Severe distention of the kidney with dilation of the renal pelvis and calices.
HP:0000127	Renal salt wasting	biolink:PhenotypicFeature	hp	UMLS:C1846347		Loss of salt in urine|Renal salt-wasting|Salt wasting|Salt-wasting	http://purl.obolibrary.org/obo/HP_0000127	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	biolink:PhenotypicFeature	hp	UMLS:C1846348		Renal K wasting	http://purl.obolibrary.org/obo/HP_0000128	High urine potassium in the presence of hypokalemia.
HP:0000130	Abnormality of the uterus	biolink:PhenotypicFeature	hp	MSH:C562565|SNOMEDCT_US:37849005|UMLS:C0266383		Abnormality of the uterus|Uterine abnormalities|Uterine malformations	http://purl.obolibrary.org/obo/HP_0000130	An abnormality of the uterus.
HP:0000131	Uterine leiomyoma	biolink:PhenotypicFeature	hp	MSH:D007889|NCIT:C3157|SNOMEDCT_US:146801000119103|SNOMEDCT_US:44598004|SNOMEDCT_US:95315005|UMLS:C0042133		Benign uterine leiomyomas|Uterine fibroid	http://purl.obolibrary.org/obo/HP_0000131	The presence of a leiomyoma of the uterus.
HP:0000132	Menorrhagia	biolink:PhenotypicFeature	hp	MSH:D008595|SNOMEDCT_US:386692008|UMLS:C0025323		Abnormally heavy bleeding during menstruation|Hypermenorrhea	http://purl.obolibrary.org/obo/HP_0000132	Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
HP:0000133	Gonadal dysgenesis	biolink:PhenotypicFeature	hp	MSH:D006059|MSH:D006060|SNOMEDCT_US:205681004|SNOMEDCT_US:38804009|SNOMEDCT_US:83579008|SNOMEDCT_US:95219002|UMLS:C0018051|UMLS:C0018055|UMLS:C0687149		Mixed gonadal dysgenesis|Pure gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0000133	
HP:0000134	Female hypogonadism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16041008|UMLS:C0271578		Hypogonadism, female	http://purl.obolibrary.org/obo/HP_0000134	Decreased functionality of the female gonads, i.e., of the ovary.
HP:0000135	Hypogonadism	biolink:PhenotypicFeature	hp	MSH:D007006|SNOMEDCT_US:48130008|UMLS:C0020619		Decreased activity of gonads	http://purl.obolibrary.org/obo/HP_0000135	A decreased functionality of the gonad.
HP:0000136	Bifid uterus	biolink:PhenotypicFeature	hp	UMLS:C1850327			http://purl.obolibrary.org/obo/HP_0000136	The presence of a bifid uterus.
HP:0000137	Abnormality of the ovary	biolink:PhenotypicFeature	hp	MSH:D010049|SNOMEDCT_US:5552004|UMLS:C0029928|UMLS:C4021818		Abnormality of the ovaries|Abnormality of the ovary|Ovarian disease	http://purl.obolibrary.org/obo/HP_0000137	An abnormality of the ovary.
HP:0000138	Ovarian cyst	biolink:PhenotypicFeature	hp	MSH:D010048|SNOMEDCT_US:79883001|UMLS:C0029927		Ovarian cyst|Cystic abnormalities of the ovaries|Cystic ovaries|Ovarian cystic abnormality	http://purl.obolibrary.org/obo/HP_0000138	The presence of one or more cysts of the ovary.
HP:0000139	Uterine prolapse	biolink:PhenotypicFeature	hp	MSH:D014596|SNOMEDCT_US:24976005|UMLS:C0042140		Sagging uterus	http://purl.obolibrary.org/obo/HP_0000139	The presence of prolapse of the uterus.
HP:0000140	Abnormality of the menstrual cycle	biolink:PhenotypicFeature	hp	UMLS:C3549779|UMLS:C4025888		Abnormality of the menstrual cycle|Menstrual abnormalities	http://purl.obolibrary.org/obo/HP_0000140	An abnormality of the ovulation cycle.
HP:0000141	Amenorrhea	biolink:PhenotypicFeature	hp	UMLS:C2219717		Abnormal absence of menstruation	http://purl.obolibrary.org/obo/HP_0000141	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	biolink:PhenotypicFeature	hp	UMLS:C1856023		Vaginal malformation	http://purl.obolibrary.org/obo/HP_0000142	Any structural abnormality of the vagina.
HP:0000143	Rectovaginal fistula	biolink:PhenotypicFeature	hp	MEDDRA:10051097|MSH:D012006|SNOMEDCT_US:65619001|UMLS:C0034895	hposlim_core	Abnormal connection between rectum and vagina	http://purl.obolibrary.org/obo/HP_0000143	The presence of a fistula between the vagina and the rectum.
HP:0000144	Decreased fertility	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17276009|UMLS:C0520927		Abnormal fertility|Decreased fertility	http://purl.obolibrary.org/obo/HP_0000144	
HP:0000145	Transverse vaginal septum	biolink:PhenotypicFeature	hp	UMLS:C1856006		Transverse vaginal membrane	http://purl.obolibrary.org/obo/HP_0000145	
HP:0000147	Polycystic ovaries	biolink:PhenotypicFeature	hp	MSH:D011085|SNOMEDCT_US:69878008|UMLS:C0032460|UMLS:C1136382		Polycystic ovary|Sclerocystic ovaries|Polycystic ovary disease	http://purl.obolibrary.org/obo/HP_0000147	
HP:0000148	Vaginal atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87380008|UMLS:C1321884		Abnormally closed or absent vagina	http://purl.obolibrary.org/obo/HP_0000148	Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
HP:0000149	Ovarian gonadoblastoma	biolink:PhenotypicFeature	hp	NCIT:C3754|SNOMEDCT_US:716594002|UMLS:C1518716		Gonadoblastoma, female	http://purl.obolibrary.org/obo/HP_0000149	The presence of a gonadoblastoma of the ovary.
HP:0000150	Gonadoblastoma	biolink:PhenotypicFeature	hp	MSH:D018238|NCIT:C3754|SNOMEDCT_US:74751003|UMLS:C0206661			http://purl.obolibrary.org/obo/HP_0000150	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248942000|UMLS:C0425913		Absent uterus|uterus absent	http://purl.obolibrary.org/obo/HP_0000151	Aplasia of the uterus.
HP:0000152	Abnormality of head or neck	biolink:PhenotypicFeature	hp	UMLS:C4021817		Abnormality of head or neck|Head and neck abnormality	http://purl.obolibrary.org/obo/HP_0000152	An abnormality of head and neck.
HP:0000153	Abnormality of the mouth	biolink:PhenotypicFeature	hp	MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633	hposlim_core	Abnormal mouth|Abnormality of the mouth	http://purl.obolibrary.org/obo/HP_0000153	An abnormality of the mouth.
HP:0000154	Wide mouth	biolink:PhenotypicFeature	hp	MSH:D008265|SNOMEDCT_US:40159009|UMLS:C0024433	hposlim_core	Broad mouth|Large mouth|Wide mouth|Large oral aperture|Macrostomia	http://purl.obolibrary.org/obo/HP_0000154	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	biolink:PhenotypicFeature	hp	MSH:D019226|SNOMEDCT_US:26284000|UMLS:C0149745	hposlim_core	Mouth sore|Mouth ulcer|Oral mucosal ulceration	http://purl.obolibrary.org/obo/HP_0000155	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	biolink:PhenotypicFeature	hp	UMLS:C0878638	hposlim_core	Abnormal tongue|Abnormality of the tongue|Tongue abnormality|Glossal abnormality|Lingual abnormality	http://purl.obolibrary.org/obo/HP_0000157	Any abnormality of the tongue.
HP:0000158	Macroglossia	biolink:PhenotypicFeature	hp	MSH:D008260|SNOMEDCT_US:25273001|UMLS:C0024421	hposlim_core	Abnormally large tongue|Increased size of tongue|Large tongue|Glossal hypertrophy|Lingual hyperplasia|Lingual hypertrophy|Hyperplasia of the tongue|Hypertrophy of the tongue|Tongue hypertrophy	http://purl.obolibrary.org/obo/HP_0000158	Increased length and width of the tongue.
HP:0000159	Abnormal lip morphology	biolink:PhenotypicFeature	hp	UMLS:C2183966		Abnormal lip|Abnormality of the lip|Lip abnormality|Anomaly of lip|Deformity of lip|Malformation of lip	http://purl.obolibrary.org/obo/HP_0000159	An abnormality of the lip.
HP:0000160	Narrow mouth	biolink:PhenotypicFeature	hp	MSH:D008865|SNOMEDCT_US:14582003|UMLS:C0026034	hposlim_core	Narrow mouth|Small mouth|Microstomia|Small oral aperture	http://purl.obolibrary.org/obo/HP_0000160	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	biolink:PhenotypicFeature	hp	UMLS:C1850256	hposlim_core	Central cleft upper lip|Midline cleft lip	http://purl.obolibrary.org/obo/HP_0000161	A type of cleft lip presenting as a midline (median) gap in the upper lip.
HP:0000162	Glossoptosis	biolink:PhenotypicFeature	hp	MSH:D065710|SNOMEDCT_US:3639002|UMLS:C0267048|UMLS:C4280678	hposlim_core	Retraction of the tongue|Posterior displacement of the tongue|Lingual retraction	http://purl.obolibrary.org/obo/HP_0000162	Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
HP:0000163	Abnormal oral cavity morphology	biolink:PhenotypicFeature	hp	UMLS:C4025887		Abnormality of the oral cavity	http://purl.obolibrary.org/obo/HP_0000163	Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
HP:0000164	Abnormality of the dentition	biolink:PhenotypicFeature	hp	MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444	hposlim_core	Abnormal dentition|Abnormal teeth|Dental abnormality|Dental abnormalities|Dental anomalies|Abnormality of the teeth|Dental problem|Tooth abnormalities|Dental problems	http://purl.obolibrary.org/obo/HP_0000164	Any abnormality of the teeth.
HP:0000166	Severe periodontitis	biolink:PhenotypicFeature	hp	UMLS:C4025886		Severe gum disease|Severe periodontal disease|Severe pyorrhea	http://purl.obolibrary.org/obo/HP_0000166	A severe form of periodontitis.
HP:0000168	Abnormality of the gingiva	biolink:PhenotypicFeature	hp	UMLS:C4021816	hposlim_core	Abnormality of the gums|Gingival abnormality	http://purl.obolibrary.org/obo/HP_0000168	Any abnormality of the gingiva (also known as gums).
HP:0000169	Gingival fibromatosis	biolink:PhenotypicFeature	hp	MSH:C562884|MSH:D005351|NCIT:C3041|SNOMEDCT_US:109620006|SNOMEDCT_US:58569000|UMLS:C0016049|UMLS:C0399440|UMLS:C4280677	hposlim_core	Gingival fibroma|Gingival fibrous nodules|Hereditary gingival fibromatosis|Idiopathic gingival hyperplasia	http://purl.obolibrary.org/obo/HP_0000169	The presence of fibrosis of the gingiva.
HP:0000171	Microglossia	biolink:PhenotypicFeature	hp	MSH:D014060|SNOMEDCT_US:249380003|SNOMEDCT_US:32614006|UMLS:C0025988|UMLS:C0426492	hposlim_core	Abnormally small tongue|Underdevelopment of the tongue|Decreased size of tongue|Hypoglossia|Hypoplasia of the tongue|Hypoplastic tongue|Lingual hypoplasia|Rudimentary tongue|Small tongue	http://purl.obolibrary.org/obo/HP_0000171	Decreased length and width of the tongue.
HP:0000172	Abnormality of the uvula	biolink:PhenotypicFeature	hp	UMLS:C4025885	hposlim_core	Abnormality of the uvula|Abnormality of palatine uvula	http://purl.obolibrary.org/obo/HP_0000172	Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.
HP:0000174	Abnormal palate morphology	biolink:PhenotypicFeature	hp	UMLS:C4021815	hposlim_core	Abnormality of the palate|Abnormality of the roof of the mouth|Palatal anomaly|Palate abnormality	http://purl.obolibrary.org/obo/HP_0000174	Any abnormality of the palate, i.e., of roof of the mouth.
HP:0000175	Cleft palate	biolink:PhenotypicFeature	hp	Fyler:4876|MSH:D002972|SNOMEDCT_US:63567004|SNOMEDCT_US:87979003|UMLS:C0008925|UMLS:C2981150	hposlim_core	Cleft palate|Cleft roof of mouth|Cleft secondary palate|Cleft hard and soft palate|Cleft of hard and soft palate|Cleft of palate|Palatoschisis|Uranostaphyloschisis	http://purl.obolibrary.org/obo/HP_0000175	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43437003|UMLS:C0432103|UMLS:C4020894		Partial thickness cleft hard palate|Submucosal cleft palate|Submucous clefting	http://purl.obolibrary.org/obo/HP_0000176	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	Abnormality of upper lip	biolink:PhenotypicFeature	hp	UMLS:C4025884	hposlim_core	Abnormality of upper lip|Anomaly of the upper lip|Deformity of the upper lip|Malformation of the upper lip	http://purl.obolibrary.org/obo/HP_0000177	An abnormality of the upper lip.
HP:0000178	Abnormality of lower lip	biolink:PhenotypicFeature	hp	UMLS:C4025883	hposlim_core	Abnormality of lower lip|Anomaly of the lower lip|Deformity of the lower lip|Malformation of the lower lip	http://purl.obolibrary.org/obo/HP_0000178	An abnormality of the lower lip.
HP:0000179	Thick lower lip vermilion	biolink:PhenotypicFeature	hp	UMLS:C1839739|UMLS:C2053437		Increased volume of lower lip|Plump lower lip|Prominent lower lip|Thick red part of the lower lip|Full lower lip|Thick lower lip|Full lower lip vermilion|Increased height of lower lip vermilion|Increased volume of lower lip vermilion|Thick vermilion border of lower lip|Prominent lower lip vermilion	http://purl.obolibrary.org/obo/HP_0000179	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253752000|UMLS:C0431564	hposlim_core	Bumpy tongue|Lingual lobules|Lobulate tongue	http://purl.obolibrary.org/obo/HP_0000180	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	biolink:PhenotypicFeature	hp	UMLS:C4025882		Movement abnormality of the tongue|Abnormality of lingual movement	http://purl.obolibrary.org/obo/HP_0000182	
HP:0000183	Difficulty in tongue movements	biolink:PhenotypicFeature	hp	UMLS:C1853406|UMLS:C4280676		Difficulty in tongue movements|Difficulty in lingual movements|Hypokinesia of the tongue|Lingual hypokinesia	http://purl.obolibrary.org/obo/HP_0000183	
HP:0000185	Cleft soft palate	biolink:PhenotypicFeature	hp	MSH:C562950|SNOMEDCT_US:253997002|UMLS:C0432098		Cleft muscular palate|Cleft of soft palate|Cleft velum	http://purl.obolibrary.org/obo/HP_0000185	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	biolink:PhenotypicFeature	hp	UMLS:C1857500|UMLS:C4280675		Wide gum ridges|Broad alveolar margins|Widened alveolar ridges|Broad alveolar processes of jaw|Wide alveolar margins|Wide alveolar processes of jaw	http://purl.obolibrary.org/obo/HP_0000187	
HP:0000188	Short upper lip	biolink:PhenotypicFeature	hp	UMLS:C1848977		Decreased height of upper lip|Decreased vertical length of upper lip|Short upper lip|Shortening of upper lip|Decreased upper labial height|Decreased upper labial length|Vertical deficiency of upper lip	http://purl.obolibrary.org/obo/HP_0000188	Decreased width of the upper lip.
HP:0000189	Narrow palate	biolink:PhenotypicFeature	hp	UMLS:C1398312	hposlim_core	Narrow palate|Narrow roof of mouth|Decreased palatal width|Decreased transverse dimension of palate	http://purl.obolibrary.org/obo/HP_0000189	Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
HP:0000190	Abnormal oral frenulum morphology	biolink:PhenotypicFeature	hp	UMLS:C4025881		Abnormality of frenum of tongue|Abnormality of lingual frenum|Abnormality of oral frenula|Abnormality of oral frenum	http://purl.obolibrary.org/obo/HP_0000190	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	biolink:PhenotypicFeature	hp	UMLS:C4021814	hposlim_core	Accessory oral frenum|Extra oral frenulum|Extra oral frenum|Multiple oral frenula|Supernumerary oral frenulum|Supernumerary oral frenum	http://purl.obolibrary.org/obo/HP_0000191	Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
HP:0000193	Bifid uvula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18910001|UMLS:C0266122	hposlim_core	Bifid palatine uvula|Cleft of uvula|Cleft uvula|Forked uvula|Split uvula|Uvula bifida	http://purl.obolibrary.org/obo/HP_0000193	Uvula separated into two parts most easily seen at the tip.
HP:0000194	Open mouth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:262016004|UMLS:C0240379		Gaped jawed appearance|Gaped mouthed appearance|Open mouth|Slack jawed appearance|Open mouth appearance	http://purl.obolibrary.org/obo/HP_0000194	A facial appearance characterized by a permanently or nearly permanently opened mouth.
HP:0000196	Lower lip pit	biolink:PhenotypicFeature	hp	UMLS:C1861544			http://purl.obolibrary.org/obo/HP_0000196	Depression located on the vermilion of the lower lip, usually paramedian.
HP:0000197	Abnormal parotid gland morphology	biolink:PhenotypicFeature	hp	UMLS:C4025880		Abnormality of parotid gland|Anomaly of the parotid gland	http://purl.obolibrary.org/obo/HP_0000197	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	biolink:PhenotypicFeature	hp	UMLS:C1858569|UMLS:C4280674		Absence of parotid duct|Absent stensen duct|Failure of development of parotid duct|Failure of development of stensen duct|Missing parotid duct|Missing stensen duct|Agenesis of parotid duct|Agenesis of stensen duct	http://purl.obolibrary.org/obo/HP_0000198	
HP:0000199	Tongue nodules	biolink:PhenotypicFeature	hp	UMLS:C0241438		Lingual nodules	http://purl.obolibrary.org/obo/HP_0000199	
HP:0000200	Short lingual frenulum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249388005|UMLS:C0426501|UMLS:C4280673		Hypoplasia of lingual frenulum|Hypoplasia of lingual frenum|Hypoplasia of tongue frenulum|Hypoplasia of tongue frenum|Deficiency of lingual frenulum|Short lingual frenum|Short tongue frenulum|Short tongue frenum|Tight lingual frenulum	http://purl.obolibrary.org/obo/HP_0000200	The presence of an abnormally short lingual frenulum.
HP:0000201	Pierre-Robin sequence	biolink:PhenotypicFeature	hp	MSH:D010855|SNOMEDCT_US:4602007|UMLS:C0031900		Pierre Robin sequence|Pierre-robin anomaly|Pierre-robin deformity|Pierre-robin malformation|Robin sequence	http://purl.obolibrary.org/obo/HP_0000201	Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
HP:0000202	Oral cleft	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253983005|SNOMEDCT_US:66948001|UMLS:C0158646|UMLS:C4021813		Cleft of the mouth|Oral clefting|Cleft lip, cleft palate|Cleft lip/palate	http://purl.obolibrary.org/obo/HP_0000202	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	biolink:PhenotypicFeature	hp	Fyler:4875|MSH:D002971|SNOMEDCT_US:80281008|UMLS:C0008924		Cleft upper lip|Harelip|Cleft of upper lip|Cheiloschisis of upper lip	http://purl.obolibrary.org/obo/HP_0000204	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	biolink:PhenotypicFeature	hp	UMLS:C1832130		Pursed lips|Tightly closed lips	http://purl.obolibrary.org/obo/HP_0000205	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	biolink:PhenotypicFeature	hp	MSH:D005928|SNOMEDCT_US:45534005|UMLS:C0017675	hposlim_core	Inflammation of the tongue|Smooth swollen tongue|Lingual inflammation	http://purl.obolibrary.org/obo/HP_0000206	Inflammation of the tongue.
HP:0000207	Triangular mouth	biolink:PhenotypicFeature	hp	UMLS:C1849341		Triangular mouth|Triangular shaped mouth|Triangular shaped oral aperture	http://purl.obolibrary.org/obo/HP_0000207	The presence of a triangular form of the mouth.
HP:0000211	Trismus	biolink:PhenotypicFeature	hp	MSH:D014313|SNOMEDCT_US:87866006|UMLS:C0041105|UMLS:C1848474|UMLS:C4228933|UMLS:C4280672		Decrease in jaw mobility|Decrease in jaw movement|Decrease in jaw opening|Limited jaw mobility|Limited jaw movement|Limited jaw opening|Limited mouth opening|Lockjaw|Decrease in mandibular mobility|Decrease in mandibular movement|Decrease in mandibular opening|Limited mandibular mobility|Limited mandibular opening|Pain of muscles of mastication	http://purl.obolibrary.org/obo/HP_0000211	Limitation in the ability to open the mouth.
HP:0000212	Gingival overgrowth	biolink:PhenotypicFeature	hp	MSH:D005885|MSH:D005886|MSH:D019214|SNOMEDCT_US:441787004|SNOMEDCT_US:441798003|SNOMEDCT_US:54711002|UMLS:C0017566|UMLS:C0017567|UMLS:C0376480	hposlim_core	Gum enlargement|Gingival enlargement|Gingival hyperplasia|Gum hypertrophy|Hypertrophic gingivitis|Oral soft tissue hyperplasia	http://purl.obolibrary.org/obo/HP_0000212	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	biolink:PhenotypicFeature	hp	UMLS:C1857697|UMLS:C4280670|UMLS:C4280671		Spider veins of the lip|Labial telangiectasia|Lip telangiectases|Telangiectasia of the lips|Angioectasias of the lip|Labial angioectasias	http://purl.obolibrary.org/obo/HP_0000214	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
HP:0000215	Thick upper lip vermilion	biolink:PhenotypicFeature	hp	UMLS:C1846423	hposlim_core	Full upper lip|Increased volume of upper lip|Plump upper lip|Prominent upper lip|Thick upper lip|Thick red part of the upper lip|Full upper lip vermilion|Increased height of upper lip vermilion|Increased volume of upper lip vermilion|Thick vermilion border of upper lip|Prominent upper lip vermilion	http://purl.obolibrary.org/obo/HP_0000215	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	biolink:PhenotypicFeature	hp	UMLS:C1839276		Secondary alveolar ridges	http://purl.obolibrary.org/obo/HP_0000216	
HP:0000217	Xerostomia	biolink:PhenotypicFeature	hp	MSH:D014987|SNOMEDCT_US:300268000|SNOMEDCT_US:56893005|SNOMEDCT_US:87715008|UMLS:C0043352	hposlim_core	Decreased salivary flow|Dry mouth|Dry mouth syndrome|Reduced salivation	http://purl.obolibrary.org/obo/HP_0000217	Dryness of the mouth due to salivary gland dysfunction.
HP:0000218	High palate	biolink:PhenotypicFeature	hp	SNOMEDCT_US:27272007|UMLS:C0240635		Elevated palate|High palate|Increased palatal height|High arched palate|High, arched palate|High-arched palate|Palate high-arched|Palate, high-arched|Ogival palate	http://purl.obolibrary.org/obo/HP_0000218	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	biolink:PhenotypicFeature	hp	UMLS:C1865017	hposlim_core	Thin upper lip|Thin red part of the upper lip|Decreased height of upper lip vermilion|Decreased volume of upper lip|Decreased volume of upper lip vermilion|Thin vermilion border of upper lip|Thin upper lips	http://purl.obolibrary.org/obo/HP_0000219	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	biolink:PhenotypicFeature	hp	MSH:D014681|SNOMEDCT_US:229727006|SNOMEDCT_US:232416001|SNOMEDCT_US:278714002|UMLS:C0042454|UMLS:C4280669		Velopharyngeal incompetence|Velopharyngeal dysfunction	http://purl.obolibrary.org/obo/HP_0000220	Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
HP:0000221	Furrowed tongue	biolink:PhenotypicFeature	hp	MSH:D014063|SNOMEDCT_US:52368004|UMLS:C0040412	hposlim_core	Grooved tongue|Fissured tongue|Lingual furrow|Lingue plicata|Plicated tongue|Prominent tongue grooves|Scrotal tongue	http://purl.obolibrary.org/obo/HP_0000221	Accentuation of the grooves on the dorsal surface of the tongue.
HP:0000222	Gingival hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C1857013		Hyperkeratosis, gingival	http://purl.obolibrary.org/obo/HP_0000222	Hyperkeratosis of the gingiva.
HP:0000223	Abnormality of taste sensation	biolink:PhenotypicFeature	hp	UMLS:C4025879		Abnormality of taste sensation	http://purl.obolibrary.org/obo/HP_0000223	
HP:0000224	Hypogeusia	biolink:PhenotypicFeature	hp	MSH:D000370|SNOMEDCT_US:697990000|UMLS:C0151934		Decreased taste|Decreased taste sensation	http://purl.obolibrary.org/obo/HP_0000224	
HP:0000225	Gingival bleeding	biolink:PhenotypicFeature	hp	MSH:D005884|SNOMEDCT_US:86276007|UMLS:C0017565		Bleeding gums|Gingival hemorrhage|Gingivorrhagia	http://purl.obolibrary.org/obo/HP_0000225	Hemorrhage affecting the gingiva.
HP:0000227	Tongue telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C4025878|UMLS:C4280668		Spider veins of the tongue|Lingual telangiectasia|Angioectasias of the tongue|Lingual angioectasias	http://purl.obolibrary.org/obo/HP_0000227	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
HP:0000228	Oral cavity telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C4025877|UMLS:C4280667		Spider veins of the mouth|Oral cavity teleangiectasia|Angioectasias of the mouth|Angioectasias of the oral cavity|Spider veins of the oral cavity	http://purl.obolibrary.org/obo/HP_0000228	Presence of telangiectases in the oral cavity.
HP:0000230	Gingivitis	biolink:PhenotypicFeature	hp	MSH:D005891|SNOMEDCT_US:66383009|UMLS:C0017574	hposlim_core	Inflamed gums|Red and swollen gums|Gingival inflammation	http://purl.obolibrary.org/obo/HP_0000230	Inflammation of the gingiva.
HP:0000232	Everted lower lip vermilion	biolink:PhenotypicFeature	hp	UMLS:C1853246|UMLS:C1866234	hposlim_core	Drooping lower lip|Outward turned lower lip|Protruding lower lip|Eclabium of lower lip|Everted lower lip|Everted prominent lower lip	http://purl.obolibrary.org/obo/HP_0000232	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:301348000|UMLS:C0578038		Decreased volume of lip|Thin lips|Decreased volume of lip vermillion|Thin vermillion|Thin vermilion borders	http://purl.obolibrary.org/obo/HP_0000233	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	biolink:PhenotypicFeature	hp	UMLS:C4021812		Abnormal head|Abnormality of the head|Head abnormality	http://purl.obolibrary.org/obo/HP_0000234	An abnormality of the head.
HP:0000235	Abnormality of the fontanelles or cranial sutures	biolink:PhenotypicFeature	hp	UMLS:C4025876			http://purl.obolibrary.org/obo/HP_0000235	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	biolink:PhenotypicFeature	hp	UMLS:C4025875		Abnormality of the forehead soft spot	http://purl.obolibrary.org/obo/HP_0000236	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	biolink:PhenotypicFeature	hp	UMLS:C1859455		Small anterior fontanel|Small forehead fontanel	http://purl.obolibrary.org/obo/HP_0000237	Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.
HP:0000238	Hydrocephalus	biolink:PhenotypicFeature	hp	MSH:D006849|SNOMEDCT_US:230745008|UMLS:C0020255		Too much cerebrospinal fluid in the brain|Hydrocephaly|Nonsyndromal hydrocephalus	http://purl.obolibrary.org/obo/HP_0000238	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276709006|UMLS:C0456132|UMLS:C4072820|UMLS:C4072821|UMLS:C4072822		Wide fontanelles|Enlarged fontanelles|Large fontanel|Large fontanelle|Large fontanels|Persistent wide fontanel|Large bregma sutures|Large, late-closing fontanelle|Wide bregma sutures	http://purl.obolibrary.org/obo/HP_0000239	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	biolink:PhenotypicFeature	hp	UMLS:C4025874		Abnormality of head size|Abnormality of skull size|Abnormality of cranium size	http://purl.obolibrary.org/obo/HP_0000240	Any abnormality of the size of the skull.
HP:0000242	Parietal bossing	biolink:PhenotypicFeature	hp	UMLS:C1857126		Biparietal bossing|Bossing of parietal bone	http://purl.obolibrary.org/obo/HP_0000242	Parietal bossing is a marked prominence in the parietal region.
HP:0000243	Trigonocephaly	biolink:PhenotypicFeature	hp	MSH:D003398|SNOMEDCT_US:28740008|UMLS:C0265535|UMLS:C4280665|UMLS:C4280666	hposlim_core	Triangular head shape|Wedge shaped head|Triangular skull shape|Wedge shaped skull|Triangular cranium shape|Wedge shaped cranium	http://purl.obolibrary.org/obo/HP_0000243	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	biolink:PhenotypicFeature	hp	UMLS:C1857484		High, prominent forehead|Brachy-turricephaly|Turribrachycephaly	http://purl.obolibrary.org/obo/HP_0000244	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	biolink:PhenotypicFeature	hp	UMLS:C4025873		Abnormality of the sinuses|Abnormality of the sinuses of the head|Abnormality of the paranasal sinuses	http://purl.obolibrary.org/obo/HP_0000245	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	biolink:PhenotypicFeature	hp	MSH:D010254|MSH:D012852|SNOMEDCT_US:36971009|SNOMEDCT_US:7393007|UMLS:C0030469|UMLS:C0037199	hposlim_core	Sinus infection|Sinus inflammation|Sinus disease	http://purl.obolibrary.org/obo/HP_0000246	Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
HP:0000248	Brachycephaly	biolink:PhenotypicFeature	hp	MSH:D003398|SNOMEDCT_US:13649004|UMLS:C0221356|UMLS:C4072823|UMLS:C4072824	hposlim_core	Broad head shape|Broad skull shape|Wide head shape|Wide skull shape|Short and broad skull|Broad cranium shape|Wide cranium shape	http://purl.obolibrary.org/obo/HP_0000248	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	biolink:PhenotypicFeature	hp	UMLS:C1854834		Dense skull cap	http://purl.obolibrary.org/obo/HP_0000250	An abnormal increase of density of the bones making up the calvaria.
HP:0000252	Microcephaly	biolink:PhenotypicFeature	hp	Fyler:4310|SNOMEDCT_US:271611007|UMLS:C4551563	hposlim_core	Abnormally small head|Decreased size of head|Small head|Small skull|Abnormally small skull|Decreased circumference of cranium|Decreased size of skull|Reduced head circumference|Small head circumference|Abnormally small cranium|Decreased size of cranium|small calvarium|small cranium	http://purl.obolibrary.org/obo/HP_0000252	Head circumference below 2 standard deviations below the mean for age and gender.
HP:0000253	Progressive microcephaly	biolink:PhenotypicFeature	hp	UMLS:C1850456		Progressively abnormally small cranium|Progressively abnormally small skull|Microcephaly, postnatal, progressive|Microcephaly, progressive	http://purl.obolibrary.org/obo/HP_0000253	Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
HP:0000255	Acute sinusitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15805002|UMLS:C0149512			http://purl.obolibrary.org/obo/HP_0000255	An acute form of sinusitis.
HP:0000256	Macrocephaly	biolink:PhenotypicFeature	hp	Fyler:4335|UMLS:C4083076|UMLS:C4255213|UMLS:C4280663|UMLS:C4280664	hposlim_core	Big calvaria|Big cranium|Big head|Big skull|Increased size of head|Large skull|Increased size of skull|Large head|Large head circumference|Large calvaria|Large cranium|Increased size of cranium|Macrocrania|Megacephaly	http://purl.obolibrary.org/obo/HP_0000256	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	biolink:PhenotypicFeature	hp	UMLS:C1866134		Wider-than-typical soft spot of skull|Large anterior fontanel|Large anterior fontanelle|Large open anterior fontanel|Large open anterior fontanelle|Wide anterior fontanelle|Wide open anterior fontanelle|Large anterior fontanels	http://purl.obolibrary.org/obo/HP_0000260	Enlargement of the anterior fontanelle with respect to age-dependent norms.
HP:0000262	Turricephaly	biolink:PhenotypicFeature	hp	MSH:D003398|SNOMEDCT_US:48069004|UMLS:C0030044	hposlim_core	Tall shaped head|Tall shaped skull|Tower skull shape|Tall shaped cranium|Tower cranium shape	http://purl.obolibrary.org/obo/HP_0000262	Tall head relative to width and length.
HP:0000263	Oxycephaly	biolink:PhenotypicFeature	hp	MSH:D003398		Acrocephaly	http://purl.obolibrary.org/obo/HP_0000263	Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
HP:0000264	Abnormality of the mastoid	biolink:PhenotypicFeature	hp	UMLS:C4025872	hposlim_core	Abnormality of mastoid process of temporal bone	http://purl.obolibrary.org/obo/HP_0000264	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	biolink:PhenotypicFeature	hp	MSH:D008417|SNOMEDCT_US:52404001|UMLS:C0024904			http://purl.obolibrary.org/obo/HP_0000265	
HP:0000267	Cranial asymmetry	biolink:PhenotypicFeature	hp	UMLS:C1860245|UMLS:C4280258|UMLS:C4280657|UMLS:C4280658|UMLS:C4280659|UMLS:C4280660|UMLS:C4280661|UMLS:C4280662		Asymmetry of head|Uneven head shape|Abnormality of head shape|Malformation of head shape|Asymmetry of cranium|Cranial vault asymmetry|Abnormality of cranial vault shape|Abnormality of cranium shape|Malformation of cranial vault shape|Malformation of cranium shape	http://purl.obolibrary.org/obo/HP_0000267	Asymmetry of the bones of the skull.
HP:0000268	Dolichocephaly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:72239002|UMLS:C0221358|UMLS:C4280653|UMLS:C4280654|UMLS:C4280655|UMLS:C4280656	hposlim_core	Narrow head shape|Narrow skull shape|Long, narrow head|Tall and narrow skull|Narrow cranium shape|Turridolichocephaly|Large dolichocephalic skull	http://purl.obolibrary.org/obo/HP_0000268	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	biolink:PhenotypicFeature	hp	UMLS:C1853737|UMLS:C4280652	hposlim_core	Prominent back of the head|Prominent posterior head|Protruding back of the head|Prominent back of the skull|Prominent posterior skull|Prominent posterior cranium|Protruding occiput	http://purl.obolibrary.org/obo/HP_0000269	Increased convexity of the occiput (posterior part of the skull).
HP:0000270	Delayed cranial suture closure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82779003|UMLS:C0277828		Delayed cranial suture closure|Broad late closing cranial sutures|Delayed closure of fontanel|Delayed closure of fontanelles|Delayed closure of fontanels|Delayed closure of the fontanelles|Delayed fontanel closure|Delayed fontanelle closure|Late closing fontanelles|Late closure of fontanelle|Late-closing fontanelle|Open sutures	http://purl.obolibrary.org/obo/HP_0000270	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:118930001|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004|UMLS:C0266617|UMLS:C1290857|UMLS:C4025871	hposlim_core	Disorder of face|Abnormal face|Abnormality of the face|Facial abnormality|Disorder of the face|Abnormality of the countenance|Abnormality of the physiognomy|Abnormality of the visage|Anomaly of face|Anomaly of the face|Facial anomaly	http://purl.obolibrary.org/obo/HP_0000271	An abnormality of the face.
HP:0000272	Malar flattening	biolink:PhenotypicFeature	hp	UMLS:C1858085|UMLS:C4280651	hposlim_core	Zygomatic flattening|Decreased size of malar bone|Depressed malar region|Flat cheekbone|Malar hypoplasia|Underdevelopment of malar bone|Hypotrophic malar bone	http://purl.obolibrary.org/obo/HP_0000272	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37126005|UMLS:C0234853		Facial grimacing	http://purl.obolibrary.org/obo/HP_0000273	
HP:0000274	Small face	biolink:PhenotypicFeature	hp	UMLS:C1855538		Short and narrow face|Small face|Small facies|Facial hypoplasia|Hypoplasia of face|Microface|Microfacies	http://purl.obolibrary.org/obo/HP_0000274	A face that is short (HP:0011219) and narrow (HP:0000275).
HP:0000275	Narrow face	biolink:PhenotypicFeature	hp	UMLS:C1837463|UMLS:C1849121	hposlim_core	Decreased breadth of face|Decreased width of face|Narrow face|Thin face|Decreased horizontal dimension of face|Decreased transverse dimension of face|Horizontal deficiency of face|Horizontal hypoplasia of face|Horizontal insufficiency of face|Narrow facies|Thin facies|Transverse deficiency of face|Transverse hypoplasia of face|Transverse insufficiency of face	http://purl.obolibrary.org/obo/HP_0000275	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	biolink:PhenotypicFeature	hp	UMLS:C1836047	hposlim_core	Elongation of face|Increased height of face|Increased length of face|Long face|Vertical elongation of face|Vertical enlargement of face|Vertical overgrowth of face|Increased vertical dimension of face|Long facies|Vertical Facial Excess|Vertical excess of face|Vertical hyperplasia of face	http://purl.obolibrary.org/obo/HP_0000276	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	Abnormality of the mandible	biolink:PhenotypicFeature	hp	UMLS:C4025870	hposlim_core	Abnormality of the lower jaw bone|Abnormality of the mandible|Deformity of the lower jaw bone|Malformation of the lower jaw bone|Anomaly of the mandible|Deformity of the mandible|Malformation of the mandible	http://purl.obolibrary.org/obo/HP_0000277	Any abnormality of the mandible, the bone of the lower jaw.
HP:0000278	Retrognathia	biolink:PhenotypicFeature	hp	MSH:D063173|UMLS:C3494422	hposlim_core	Receding chin|Receding lower jaw|Weak chin|Weak jaw|Lower jaw retrognathia|Receding mandible|Retrognathia of lower jaw|Retrogenia	http://purl.obolibrary.org/obo/HP_0000278	An abnormality in which the mandible is mislocalised posteriorly.
HP:0000280	Coarse facial features	biolink:PhenotypicFeature	hp	UMLS:C1845847|UMLS:C4072825	hposlim_core	Coarse facial appearance|Coarse facial features|Rounded and heavy facial features|Thickened facial skin with coarse facial features|Coarse face|Coarse facies	http://purl.obolibrary.org/obo/HP_0000280	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445088006|UMLS:C0542571		Facial puffiness|Facial swelling|Facial oedema	http://purl.obolibrary.org/obo/HP_0000282	
HP:0000283	Broad face	biolink:PhenotypicFeature	hp	UMLS:C1859680	hposlim_core	Broad face|Increased breadth of face|Increased width of face|Wide face|Broad facies|Horizontal excess of face|Horizontal hyperplasia of face|Increased horizontal dimension of face|Increased transverse dimension of face|Transverse excess of face|Transverse hyperplasia of face|Wide facies	http://purl.obolibrary.org/obo/HP_0000283	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:0000284	obsolete Abnormality of the ocular region	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000284	
HP:0000286	Epicanthus	biolink:PhenotypicFeature	hp	UMLS:C0678230	hposlim_core	Eye folds|Prominent eye folds|Epicanthal fold|Epicanthal folds|Epicanthic folds|Palpebronasal fold|Plica palpebronasalis	http://purl.obolibrary.org/obo/HP_0000286	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	biolink:PhenotypicFeature	hp	UMLS:C4025868|UMLS:C4280649|UMLS:C4280650		Increased amount of facial fat|Increased amount of facial adipose tissue|Increased volume of facial adipose tissue|Facial fat hyperplasia|Facial fat hypertrophy|Hyperplasia of facial adipose tissue|Hypertrophy of facial adipose tissue	http://purl.obolibrary.org/obo/HP_0000287	An increased amount of subcutaneous fat tissue in the face.
HP:0000288	Abnormality of the philtrum	biolink:PhenotypicFeature	hp	UMLS:C1857045	hposlim_core	Abnormal philtrum|Abnormality of the infranasal depression|Abnormality of the paralabial region	http://purl.obolibrary.org/obo/HP_0000288	An abnormality of the philtrum.
HP:0000289	Broad philtrum	biolink:PhenotypicFeature	hp	UMLS:C1854111	hposlim_core	Increased breadth of philtrum|Increased horizontal dimension of philtrum|Increased transverse dimension of philtrum|Increased width of philtrum|Wide philtrum	http://purl.obolibrary.org/obo/HP_0000289	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	biolink:PhenotypicFeature	hp	UMLS:C4025867	hposlim_core	Abnormality of the forehead|Anomaly of the forehead|Deformity of the forehead|Malformation of the forehead|Abnormality of the frontal region of the face	http://purl.obolibrary.org/obo/HP_0000290	An anomaly of the forehead.
HP:0000291	Abnormality of facial adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C4025866		Abnormality of facial fat|Deformity of facial adipose tissue|Malformation of facial adipose tissue	http://purl.obolibrary.org/obo/HP_0000291	
HP:0000292	Loss of facial adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C1837767		Decreased amount of facial fat|Loss of facial fat|Decreased amount of facial adipose tissue|Decreased volume of facial adipose tissue|Loss of facial subcutaneous adipose tissue|Loss of subcutaneous adipose tissue from face	http://purl.obolibrary.org/obo/HP_0000292	Loss of normal subcutaneous fat tissue in the face.
HP:0000293	Full cheeks	biolink:PhenotypicFeature	hp	UMLS:C1866231|UMLS:C2748653|UMLS:C3806443|UMLS:C4280647|UMLS:C4280648	hposlim_core	Apple cheeks|Big cheeks|Full cheeks|Increased size of cheeks|Large cheeks|Chubby cheeks|Puffy cheeks|Hyperplasia of cheeks|Hypertrophy of cheeks	http://purl.obolibrary.org/obo/HP_0000293	Increased prominence or roundness of soft tissues between zygomata and mandible.
HP:0000294	Low anterior hairline	biolink:PhenotypicFeature	hp	UMLS:C1842366	hposlim_core	Low frontal hairline|Low-set frontal hairline	http://purl.obolibrary.org/obo/HP_0000294	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	biolink:PhenotypicFeature	hp	UMLS:C1856361		Doll-like facial appearance	http://purl.obolibrary.org/obo/HP_0000295	A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.
HP:0000297	Facial hypotonia	biolink:PhenotypicFeature	hp	UMLS:C1845251|UMLS:C4280646		Decreased facial muscle tone|Low facial muscle tone|Reduced facial muscle tone|Hypotonic facies|Atony of facial musculature	http://purl.obolibrary.org/obo/HP_0000297	Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
HP:0000298	Mask-like facies	biolink:PhenotypicFeature	hp	SNOMEDCT_US:103606006|UMLS:C0424448		Expressionless face|Lack of facial expression|Mask-like facial appearance|Amimia|Masklike facies	http://purl.obolibrary.org/obo/HP_0000298	A lack of facial expression often with staring eyes and a slightly open mouth.
HP:0000300	Oval face	biolink:PhenotypicFeature	hp	UMLS:C1849025		Oval face|Oval facial shape|Oval facies	http://purl.obolibrary.org/obo/HP_0000300	A face with a rounded and slightly elongated outline.
HP:0000301	Abnormality of facial musculature	biolink:PhenotypicFeature	hp	UMLS:C4025865		Abnormality of facial muscles|Facial muscle issue	http://purl.obolibrary.org/obo/HP_0000301	An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
HP:0000303	Mandibular prognathia	biolink:PhenotypicFeature	hp	MSH:D008313|SNOMEDCT_US:109504005|SNOMEDCT_US:22810007|UMLS:C0302501|UMLS:C0399526|UMLS:C2227134|UMLS:C4280644|UMLS:C4280645	hposlim_core	Big lower jaw|Increased projection of lower jaw|Increased size of lower jaw|Large lower jaw|Prominent chin|Prominent lower jaw|Increased size of mandible|Hypertrophy of lower jaw|Hypertrophy of mandible|Big mandible|Enlarged mandible|Enlargement of mandible|Hyperplasia of lower jaw|Increased projection of mandible|Large mandible|Lower jaw excess|Lower jaw hyperplasia|Macromandible|Mandible prognathism|Mandibular excess|Mandibular hyperplasia|Mandibular macrognathia|Mandibular prognathism|Prognathia|Prognathism|Prominent jaw|Prominent mandible|Relative mandibular prognathism	http://purl.obolibrary.org/obo/HP_0000303	Abnormal prominence of the chin related to increased length of the mandible.
HP:0000306	Abnormality of the chin	biolink:PhenotypicFeature	hp	UMLS:C4025864	hposlim_core	Abnormality of the chin|Anomaly of the chin|Deformity of the chin|Malformation of the chin|Abnormality of the menton	http://purl.obolibrary.org/obo/HP_0000306	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	biolink:PhenotypicFeature	hp	UMLS:C1844505	hposlim_core	Pointed chin|Pointy chin|Small pointed chin|Witch's chin|Pointed mention region	http://purl.obolibrary.org/obo/HP_0000307	A marked tapering of the lower face to the chin.
HP:0000308	Microretrognathia	biolink:PhenotypicFeature	hp	UMLS:C1839546		Small retruded chin|Retromicrognathia	http://purl.obolibrary.org/obo/HP_0000308	A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
HP:0000309	Abnormality of the midface	biolink:PhenotypicFeature	hp	UMLS:C4021811		Abnormality of the midface|Deformity of the midface|Malformation of the midface|Anomaly of the midface	http://purl.obolibrary.org/obo/HP_0000309	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	biolink:PhenotypicFeature	hp	UMLS:C0239479|UMLS:C1856468	hposlim_core	Circular face|Round face|Round facial appearance|Round facial shape|Round, full face|Round facies	http://purl.obolibrary.org/obo/HP_0000311	The facial appearance is more circular than usual as viewed from the front.
HP:0000315	Abnormality of the orbital region	biolink:PhenotypicFeature	hp	UMLS:C4025863		Abnormality of the eye region|Abnormality of the region around the eyes|Anomaly of the orbital region of the face|Deformity of the orbital region of the face|Malformation of the orbital region of the face	http://purl.obolibrary.org/obo/HP_0000315	
HP:0000316	Hypertelorism	biolink:PhenotypicFeature	hp	MSH:D006972|SNOMEDCT_US:194021007|SNOMEDCT_US:22006008|UMLS:C0020534	hposlim_core	Wide-set eyes|Widely spaced eyes|Excessive orbital separation|Increased distance between eye sockets|Increased distance between eyes|Increased interpupillary distance|Ocular hypertelorism|Widened interpupillary distance	http://purl.obolibrary.org/obo/HP_0000316	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	biolink:PhenotypicFeature	hp	MSH:D005155|SNOMEDCT_US:1070000|UMLS:C0270871		Involuntary facial quivering|Involuntary facial contraction	http://purl.obolibrary.org/obo/HP_0000317	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	biolink:PhenotypicFeature	hp	UMLS:C1142533		Decreased depth of philtrum|Flat philtrum|Indistinct philtrum|Philtrum, smooth|Shallow philtrum|Simple philtrum	http://purl.obolibrary.org/obo/HP_0000319	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	biolink:PhenotypicFeature	hp	UMLS:C1837758		Bird-like facial appearance	http://purl.obolibrary.org/obo/HP_0000320	
HP:0000321	Square face	biolink:PhenotypicFeature	hp	UMLS:C1832127		Square face|Square facial shape|Square facies	http://purl.obolibrary.org/obo/HP_0000321	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	biolink:PhenotypicFeature	hp	UMLS:C1861324	hposlim_core	Decreased height of philtrum|Decreased length of philtrum|Decreased vertical dimension of philtrum|Vertical hypoplasia of philtrum	http://purl.obolibrary.org/obo/HP_0000322	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	biolink:PhenotypicFeature	hp	MSH:D005146|SNOMEDCT_US:15253005|UMLS:C1306710	hposlim_core	Asymmetry of face|Crooked face|Facial asymmetry|Unsymmetrical face|Unbalanced face|Unequal sides of face|Uneven face|Uneven sides of face|Asymmetric facies|Asymmetry of right and left side of face	http://purl.obolibrary.org/obo/HP_0000324	An abnormal difference between the left and right sides of the face.
HP:0000325	Triangular face	biolink:PhenotypicFeature	hp	UMLS:C1835884	hposlim_core	Face with broad temples and narrow chin|Triangular face|Triangular facial shape|Triangular facies	http://purl.obolibrary.org/obo/HP_0000325	Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
HP:0000326	Abnormality of the maxilla	biolink:PhenotypicFeature	hp	UMLS:C4025862	hposlim_core	Abnormality of the upper jaw bone|Abnormality of the upper jaw bones|Deformity of the maxilla|Deformity of the upper jaw bones|Malformation of the upper jaw bones|Anomaly of the maxilla|Malformation of the maxilla	http://purl.obolibrary.org/obo/HP_0000326	An abnormality of the Maxilla (upper jaw bone).
HP:0000327	Hypoplasia of the maxilla	biolink:PhenotypicFeature	hp	UMLS:C0240310|UMLS:C4082243|UMLS:C4280640|UMLS:C4280641|UMLS:C4280642|UMLS:C4280643	hposlim_core	Deficiency of upper jaw bones|Decreased size of maxilla|Decreased size of upper jaw|Maxillary deficiency|Maxillary retrusion|Small maxilla|Small upper jaw|Small upper jaw bones|Upper jaw deficiency|Upper jaw retrusion|Hypoplasia of upper jaw bones|Hypoplastic maxillary bones|Maxillary hypoplasia|Maxillary micrognathia|Maxillary retrognathia|Micromaxilla|Decreased projection of maxilla|Decreased projection of upper jaw|Hypotrophic maxilla|Hypotrophic upper jaw bones|Retrognathia of upper jaw|Retrusion of upper jaw bones	http://purl.obolibrary.org/obo/HP_0000327	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	biolink:PhenotypicFeature	hp	UMLS:C1861443		Facial hemangiomata	http://purl.obolibrary.org/obo/HP_0000329	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
HP:0000331	Short chin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:699439001|UMLS:C1839323|UMLS:C3697248		Decreased height of chin|Short chin|Short lower third of face|Small chin|Vertical deficiency of chin|Vertical hypoplasia of chin	http://purl.obolibrary.org/obo/HP_0000331	Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
HP:0000336	Prominent supraorbital ridges	biolink:PhenotypicFeature	hp	UMLS:C1842060|UMLS:C4280636|UMLS:C4280637|UMLS:C4280638|UMLS:C4280639	hposlim_core	Prominent brow|Prominent supraorbital margins|Prominent supraorbital ridge|Protruding supraorbital ridge|Supraorbital hyperostosis|Hyperplasia of supraorbital margins|Hyperplasia of supraorbital ridge|Hypertrophy of supraorbital margins|Hypertrophy of supraorbital ridge	http://purl.obolibrary.org/obo/HP_0000336	Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
HP:0000337	Broad forehead	biolink:PhenotypicFeature	hp	UMLS:C1849089	hposlim_core	Broad forehead|Increased width of the forehead|Wide forehead|Bitemporal widening|Increased bitemporal dimension|Increased bitemporal width|Intertemporal widening	http://purl.obolibrary.org/obo/HP_0000337	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248149005|UMLS:C0813217|UMLS:C1862474|UMLS:C4280635		Dull facial expression|Decreased facial expressions|Decreased facial muscle movement|Hypomimia	http://purl.obolibrary.org/obo/HP_0000338	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	biolink:PhenotypicFeature	hp	UMLS:C1846011		Boxer-like facial appearance|Pugilistic facial appearance	http://purl.obolibrary.org/obo/HP_0000339	Coarse facial features reminiscent of those of a boxer.
HP:0000340	Sloping forehead	biolink:PhenotypicFeature	hp	UMLS:C1857679	hposlim_core	Inclined forehead|Receding forehead|Sloping forehead|Posteriorly sloping forehead	http://purl.obolibrary.org/obo/HP_0000340	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	biolink:PhenotypicFeature	hp	UMLS:C1839758	hposlim_core	Decreased width of the forehead|Narrow forehead|Bitemporal narrowing|Bitemporal narrowness|Bitemporal skull narrowing|Intertemporal narrowing|Narrow bitemporal diameter|Narrow bitemporal width|Temporal narrowness	http://purl.obolibrary.org/obo/HP_0000341	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	biolink:PhenotypicFeature	hp	UMLS:C1865014	hposlim_core	Elongated philtrum|Increased height of philtrum|Increased length of philtrum|Increased vertical dimension of philtrum|Vertical hyperplasia of philtrum	http://purl.obolibrary.org/obo/HP_0000343	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	biolink:PhenotypicFeature	hp	UMLS:C1848473		Whistling appearance|Whistling facial appearance	http://purl.obolibrary.org/obo/HP_0000346	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	biolink:PhenotypicFeature	hp	Fyler:4163|MSH:D008844|SNOMEDCT_US:32958008|UMLS:C0025990|UMLS:C0240295|UMLS:C1857130	hposlim_core	Little lower jaw|Small jaw|Small lower jaw|Deficiency of lower jaw|Decreased size of lower jaw|Decreased size of mandible|Hypoplasia of lower jaw|Hypoplasia of mandible|Hypoplastic mandible|Hypoplastic mandible condyle|Hypotrophic lower jaw|Hypotrophic mandible|Little mandible|Lower jaw deficiency|Lower jaw hypoplasia|Lower jaw retrusion|Mandibular deficiency|Mandibular hypoplasia|Mandibular micrognathia|Mandibular retrognathia|Mandibular retrusion|Micrognathia of lower jaw|Micromandible|Robin mandible|Severe hypoplasia of mandible|Small mandible|Underdevelopment of lower jaw|Underdevelopment of mandible|Decreased projection of lower jaw|Decreased projection of mandible|Retrusion of lower jaw	http://purl.obolibrary.org/obo/HP_0000347	Developmental hypoplasia of the mandible.
HP:0000348	High forehead	biolink:PhenotypicFeature	hp	UMLS:C0239676|UMLS:C2677762		High forehead|Tall forehead	http://purl.obolibrary.org/obo/HP_0000348	An abnormally increased height of the forehead.
HP:0000349	Widow's peak	biolink:PhenotypicFeature	hp	UMLS:C1853486	hposlim_core	Hairline peak|Hairline point|Pointed hairline at front of head|V-shaped frontal hairline|Widow's peak|Pointed frontal hairline	http://purl.obolibrary.org/obo/HP_0000349	Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
HP:0000350	Small forehead	biolink:PhenotypicFeature	hp	UMLS:C1845250|UMLS:C4280633|UMLS:C4280634		Decreased size of forehead|Small forehead|Decreased size of frontal region of face|Hypoplasia of forehead|Hypotrophic forehead	http://purl.obolibrary.org/obo/HP_0000350	The presence of a forehead that is abnormally small.
HP:0000356	Abnormality of the outer ear	biolink:PhenotypicFeature	hp	SNOMEDCT_US:275259005|UMLS:C0266589|UMLS:C1846460		Abnormality of the external ear|Abnormality of the outer ear|Ear anomalies|External ear malformations|Outer ear abnormality|Abnormal pinnae|Abnormality of the auricle|Malformed pinnae	http://purl.obolibrary.org/obo/HP_0000356	An abnormality of the external ear.
HP:0000357	Abnormal location of ears	biolink:PhenotypicFeature	hp	UMLS:C4021810		Abnormal location of ears|External ear position defect	http://purl.obolibrary.org/obo/HP_0000357	Abnormal location of the ear.
HP:0000358	Posteriorly rotated ears	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253251006|UMLS:C0431478	hposlim_core	Ears rotated toward back of head|Ear, posterior angulation, increased|Posteriorly angulated ears|Posteriorly rotated|Posteriorly rotated auricles|Posteriorly-angulated ears|Posteriorly-rotated ears	http://purl.obolibrary.org/obo/HP_0000358	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	biolink:PhenotypicFeature	hp	UMLS:C4021809		Abnormality of the inner ear|Inner ear abnormality	http://purl.obolibrary.org/obo/HP_0000359	An abnormality of the inner ear.
HP:0000360	Tinnitus	biolink:PhenotypicFeature	hp	MSH:D014012|SNOMEDCT_US:162349004|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001|UMLS:C0040264	hposlim_core	Ringing in ears|Ringing in the ears	http://purl.obolibrary.org/obo/HP_0000360	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:0000361	obsolete Pulsatile tinnitus (tympanic paraganglioma)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000361	
HP:0000362	Otosclerosis	biolink:PhenotypicFeature	hp	MSH:D010040|SNOMEDCT_US:11543004|UMLS:C0029899	hposlim_core		http://purl.obolibrary.org/obo/HP_0000362	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	Abnormality of earlobe	biolink:PhenotypicFeature	hp	UMLS:C4021808	hposlim_core	Abnormal earlobe|Abnormality of ear lobe|Abnormality of earlobe|Abnormal lobe of ear|Abnormality of auricular lobule|Abnormality of lobulus auriculae	http://purl.obolibrary.org/obo/HP_0000363	An abnormality of the lobule of pinna.
HP:0000364	Hearing abnormality	biolink:PhenotypicFeature	hp	UMLS:C4025860		Abnormal hearing|Hearing abnormality	http://purl.obolibrary.org/obo/HP_0000364	An abnormality of the sensory perception of sound.
HP:0000365	Hearing impairment	biolink:PhenotypicFeature	hp	Fyler:4868|MSH:D003638|MSH:D034381|SNOMEDCT_US:103276001|SNOMEDCT_US:15188001|SNOMEDCT_US:343087000|SNOMEDCT_US:95828007|UMLS:C0011053|UMLS:C0018772|UMLS:C0339789|UMLS:C1384666		Deafness|Hearing defect|Hearing impairment|Hearing loss|Hypacusis|Hypoacusis	http://purl.obolibrary.org/obo/HP_0000365	A decreased magnitude of the sensory perception of sound.
HP:0000366	Abnormality of the nose	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128274005|SNOMEDCT_US:72089000|UMLS:C0240547|UMLS:C0265736|UMLS:C2235909	hposlim_core	Abnormality of the nose|Nasal abnormality|Deformity of the nose|Malformation of the nose|Nasal deformity|Nasal malformation|Anomaly of the nose|Nasal anomaly	http://purl.obolibrary.org/obo/HP_0000366	An abnormality of the nose.
HP:0000368	Low-set, posteriorly rotated ears	biolink:PhenotypicFeature	hp	UMLS:C1857486		Low-set posteriorly rotated ears	http://purl.obolibrary.org/obo/HP_0000368	Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
HP:0000369	Low-set ears	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95515009|UMLS:C0239234	hposlim_core	Low set ears|Low-set ears|Lowset ears|Melotia	http://purl.obolibrary.org/obo/HP_0000369	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	biolink:PhenotypicFeature	hp	UMLS:C1861141	hposlim_core	Middle ear abnormalities|Middle ear abnormality	http://purl.obolibrary.org/obo/HP_0000370	An abnormality of the middle ear.
HP:0000371	Acute otitis media	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3110003|UMLS:C0271429		Acute middle ear infection	http://purl.obolibrary.org/obo/HP_0000371	Acute otitis media is a short and generally painful infection of the middle ear.
HP:0000372	Abnormality of the auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4021807		Auditory canal abnormality	http://purl.obolibrary.org/obo/HP_0000372	An abnormality of the External acoustic tube (also known as the auditory canal).
HP:0000375	Abnormal cochlea morphology	biolink:PhenotypicFeature	hp	UMLS:C4025858		Abnormality of cochlea	http://purl.obolibrary.org/obo/HP_0000375	An abnormality of the cochlea.
HP:0000376	Incomplete partition of the cochlea type II	biolink:PhenotypicFeature	hp	UMLS:C1857078|UMLS:C4025857		Mondini malformation	http://purl.obolibrary.org/obo/HP_0000376	IWith 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	Abnormality of the pinna	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253255002|UMLS:C0431483|UMLS:C0857379		Abnormally shaped ears|Auricular malformation|Deformed ears|Malformed ears|Abnormal form of ears|Deformed auricles|Dysplastic ears|Malformation of auricle|Malformed auricles|Malformed external ears|Minor malformation of the auricles|Poorly defined conchae	http://purl.obolibrary.org/obo/HP_0000377	An abnormality of the pinna, which is also referred to as the auricle or external ear.
HP:0000378	Cupped ear	biolink:PhenotypicFeature	hp	UMLS:C1845447|UMLS:C4020892	hposlim_core	Cup-shaped ears|Cupped ear|Simple, cup-shaped ears|Capuchin ears|Cupped ears	http://purl.obolibrary.org/obo/HP_0000378	Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
HP:0000381	Stapes ankylosis	biolink:PhenotypicFeature	hp	UMLS:C1861326	hposlim_core		http://purl.obolibrary.org/obo/HP_0000381	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	Abnormality of periauricular region	biolink:PhenotypicFeature	hp	UMLS:C4025856		Abnormality of the region around the ear|Anomaly of the periauricular region|Deformity of the periauricular region|Malformation of the periauricular region	http://purl.obolibrary.org/obo/HP_0000383	
HP:0000384	Preauricular skin tag	biolink:PhenotypicFeature	hp	UMLS:C1860816|UMLS:C4072826		Skin tag in front of the ear|Skin tag on the posterior cheek|Ear tag|Periauricular skin tag|Preauricular acrochordon|Preauricular fibroepithelial polyp|Preauricular skin tags|Preauricular tag|Preauricular tags	http://purl.obolibrary.org/obo/HP_0000384	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	biolink:PhenotypicFeature	hp	UMLS:C1842680	hposlim_core	Small earlobe|Small earlobes|Hypoplastic earlobes|Hypoplastic lobules	http://purl.obolibrary.org/obo/HP_0000385	Reduced volume of the earlobe.
HP:0000387	Absent earlobe	biolink:PhenotypicFeature	hp	UMLS:C1849364	hposlim_core	Absent earlobe|Earlobe, absent|Lobeless ears|Absent ear lobes	http://purl.obolibrary.org/obo/HP_0000387	Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
HP:0000388	Otitis media	biolink:PhenotypicFeature	hp	MSH:D010033|SNOMEDCT_US:65363002|UMLS:C0029882		Middle ear infection	http://purl.obolibrary.org/obo/HP_0000388	Inflammation or infection of the middle ear.
HP:0000389	Chronic otitis media	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21186006|UMLS:C0271441|UMLS:C0743359	hposlim_core	Chronic infections of the middle ear|Chronic middle ear infection|Otitis media, chronic|Chronic ear infection	http://purl.obolibrary.org/obo/HP_0000389	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	biolink:PhenotypicFeature	hp	UMLS:C1837732	hposlim_core	Thick helix	http://purl.obolibrary.org/obo/HP_0000391	Increased thickness of the helix of the ear.
HP:0000394	Lop ear	biolink:PhenotypicFeature	hp	SNOMEDCT_US:76223006|UMLS:C0266614	hposlim_core		http://purl.obolibrary.org/obo/HP_0000394	Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.
HP:0000395	Prominent antihelix	biolink:PhenotypicFeature	hp	UMLS:C1845272	hposlim_core		http://purl.obolibrary.org/obo/HP_0000395	The presence of an abnormally prominent antihelix.
HP:0000396	Overfolded helix	biolink:PhenotypicFeature	hp	UMLS:C1837731	hposlim_core	Overfolded ears|Over-folded helices|Overfolded helices	http://purl.obolibrary.org/obo/HP_0000396	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	biolink:PhenotypicFeature	hp	UMLS:C4021806		Deafness, sensorineural, prelingual|Prelingual sensorineural deafness	http://purl.obolibrary.org/obo/HP_0000399	A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
HP:0000400	Macrotia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:275480001|SNOMEDCT_US:69056000|UMLS:C0152421|UMLS:C0554972|UMLS:C1835581|UMLS:C1848570|UMLS:C1850189|UMLS:C1855062|UMLS:C1860838	hposlim_core	Large ears|Large pinnae	http://purl.obolibrary.org/obo/HP_0000400	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300127002|SNOMEDCT_US:301061006|UMLS:C0395837|UMLS:C0576860	hposlim_core	Narrow ear canal|Narrowing of passageway from outer ear to middle ear|External auditory canal stenosis|Narrow auditory canals|Narrow external auditory canals|Narrow external auditory meatus|Stenotic external auditory canal	http://purl.obolibrary.org/obo/HP_0000402	An abnormal narrowing of the external auditory canal.
HP:0000403	Recurrent otitis media	biolink:PhenotypicFeature	hp	UMLS:C0747085		Recurrent middle ear infection|Frequent otitis media|Multiple episodes of otitis media|Otitis media, recurrent|Recurrent episodes of otitis media|Susceptibility to otitis media	http://purl.obolibrary.org/obo/HP_0000403	Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
HP:0000405	Conductive hearing impairment	biolink:PhenotypicFeature	hp	MSH:D006314|SNOMEDCT_US:44057004|UMLS:C0018777	hposlim_core	Conductive deafness|Conductive hearing loss|Conduction deafness|Hearing loss, conductive	http://purl.obolibrary.org/obo/HP_0000405	An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
HP:0000407	Sensorineural hearing impairment	biolink:PhenotypicFeature	hp	MSH:D006319|SNOMEDCT_US:60700002|UMLS:C0018784	hposlim_core	Hearing loss, sensorineural|Sensorineural deafness|Sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0000407	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	biolink:PhenotypicFeature	hp	UMLS:C1843156		Bilateral progressive sensorineural hearing loss|Hearing loss, progressive sensorineural|Hearing loss, sensorineural, bilateral, progressive|Hearing loss, sensorineural, progressive|Progressive bilateral sensorineural hearing loss|Sensorineural hearing loss, progressive	http://purl.obolibrary.org/obo/HP_0000408	A progressive form of sensorineural hearing impairment.
HP:0000410	Mixed hearing impairment	biolink:PhenotypicFeature	hp	MSH:D046089|SNOMEDCT_US:77507001|UMLS:C0155552		Hearing loss, mixed|Mixed hearing impairment|Mixed hearing loss	http://purl.obolibrary.org/obo/HP_0000410	A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
HP:0000411	Protruding ear	biolink:PhenotypicFeature	hp	SNOMEDCT_US:275478007|UMLS:C1305420|UMLS:C1855285		Prominent ear|Prominent ears|Protruding ears	http://purl.obolibrary.org/obo/HP_0000411	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	biolink:PhenotypicFeature	hp	UMLS:C1398325|UMLS:C1840305|UMLS:C1857079|UMLS:C1866190	hposlim_core	Absent ear canal|Absent auditory canals|Absent external auditory canals|Atretic auditory canal|Atretic auditory canals|Atretic external auditory canal|Atretic external auditory canals|Auditory canal atresia|External acoustic meatus atresia|External auditory canal atresia|External auditory meatal atresia|External auditory meatus atresia|Atresia of the external auditory canals	http://purl.obolibrary.org/obo/HP_0000413	Absence or failure to form of the external auditory canal.
HP:0000414	Bulbous nose	biolink:PhenotypicFeature	hp	MSH:C538354|UMLS:C0240543|UMLS:C1834118|UMLS:C1855751		Bulbous nose|Potato nose|Bulbous nasal tip	http://purl.obolibrary.org/obo/HP_0000414	Increased volume and globular shape of the anteroinferior aspect of the nose.
HP:0000415	Abnormality of the choanae	biolink:PhenotypicFeature	hp	UMLS:C4025855			http://purl.obolibrary.org/obo/HP_0000415	Abnormality of the choanae (the posterior nasal apertures).
HP:0000417	Slender nose	biolink:PhenotypicFeature	hp	UMLS:C1857645		Slender nose	http://purl.obolibrary.org/obo/HP_0000417	
HP:0000418	Narrow nasal ridge	biolink:PhenotypicFeature	hp	UMLS:C1837761		Decreased width of nasal ridge|Narrow nasal ridge|Pinched nose|Thin nasal ridge|Decreased width of dorsum of nose|Decreased width of nasal dorsum|Narrow dorsum of nose|Narrow nasal dorsum|Thin dorsum of nose|Thin nasal dorsum	http://purl.obolibrary.org/obo/HP_0000418	Decreased width of the nasal ridge.
HP:0000419	Abnormality of the nasal septum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95433000|UMLS:C0151790	hposlim_core	Abnormality of septum of nose|Abnormality of the nasal septum|Anomaly of nasal septum|Anomaly of septum of nose	http://purl.obolibrary.org/obo/HP_0000419	An abnormality of the nasal septum.
HP:0000420	Short nasal septum	biolink:PhenotypicFeature	hp	UMLS:C1844857	hposlim_core	Decreased length of nasal septum|Decreased length of septum of nose|Short nasal septum|Short septum of nose	http://purl.obolibrary.org/obo/HP_0000420	Reduced superior to inferior length of the nasal septum.
HP:0000421	Epistaxis	biolink:PhenotypicFeature	hp	COHD:318556|EFO:0003895|ICD10:R04.0|ICD9:784.7|MSH:D004844|NCIT:C26766|SNOMEDCT_US:12441001|SNOMEDCT_US:249366005|UMLS:C0014591		Bloody nose|Frequent nosebleeds|Nose bleed|Nose bleeding|Nosebleed|Nasal hemorrhage	http://purl.obolibrary.org/obo/HP_0000421	Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
HP:0000422	Abnormal nasal bridge morphology	biolink:PhenotypicFeature	hp	UMLS:C4021805	hposlim_core	Abnormality of the bridge of the nose|Abnormality of the nasal bridge|Deformity of the bridge of the nose|Deformity of the nasal bridge|Malformation of the bridge of the nose|Malformation of the nasal bridge|Abnormality of the nasal root	http://purl.obolibrary.org/obo/HP_0000422	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	biolink:PhenotypicFeature	hp	UMLS:C1854113|UMLS:C4230640		Elevated nasal bridge|High nasal bridge|Prominent bridge of nose|Prominent nasal bridge|Prominent nasal root|Protruding bridge of nose|Protruding nasal bridge|Convex bridge of nose|Convex nasal bridge	http://purl.obolibrary.org/obo/HP_0000426	Anterior positioning of the nasal root in comparison to the usual positioning for age.
HP:0000429	Abnormality of the nasal alae	biolink:PhenotypicFeature	hp	UMLS:C2227020|UMLS:C4021804|UMLS:C4280631|UMLS:C4280632	hposlim_core	Abnormality of the nasal ala|Abnormality of the nasal alar cartilage|Deformity of the nasal ala|Deformity of the nasal alar cartilage|Malformation of the nasal ala|Malformation of the nasal alar cartilage	http://purl.obolibrary.org/obo/HP_0000429	An abnormality of the Ala of nose.
HP:0000430	Underdeveloped nasal alae	biolink:PhenotypicFeature	hp	UMLS:C1834055	hposlim_core	Underdeveloped tissue around nostril|Ala nasi, underdeveloped|Alar cartilage hypoplasia|Decreased size of nasal alae|Hypoplastic alae nasae|Hypoplastic alae nasi|Hypoplastic alar cartilage|Hypoplastic alar nasae|Hypoplastic nares|Hypoplastic nasal alae|Hypoplastic nasal wings|Hypoplastic nostrils|Nasal cartilage hypoplasia|Small nasal alae|Thin hypoplastic alae nasi	http://purl.obolibrary.org/obo/HP_0000430	Thinned, deficient, or excessively arched ala nasi.
HP:0000431	Wide nasal bridge	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249321001|UMLS:C1839764|UMLS:C1849367		Broad nasal bridge|Broad nasal root|Broadened nasal bridge|Increased breadth of bridge of nose|Increased breadth of nasal bridge|Increased width of bridge of nose|Increased width of nasal bridge|Nasal bridge broad|Wide bridge of nose|Wide nasal bridge|Widened nasal bridge|Broad flat nasal bridge|Nasal bridge, wide	http://purl.obolibrary.org/obo/HP_0000431	Increased breadth of the nasal bridge (and with it, the nasal root).
HP:0000433	Abnormal nasal mucosa morphology	biolink:PhenotypicFeature	hp	UMLS:C4025854		Abnormality of mucosa of nose|Abnormality of mucous membrane of nose|Abnormality of nasal mucous membrane|Abnormality of the nasal mucosa	http://purl.obolibrary.org/obo/HP_0000433	
HP:0000434	Nasal mucosa telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C4025853		Spider veins of mucosa of nose|Spider veins of mucous membrane of nose|Spider veins of nasal mucous membrane|Angioectasia of mucosa of nose|Angioectasia of mucous membrane of nose|Angioectasia of nasal mucous membrane|Nasal mucous membrane telangiectasia|Telangiectasia of mucosa of nose|Telangiectasia of mucous membrane of nose|Telangiectasia of nasal mucous membrane	http://purl.obolibrary.org/obo/HP_0000434	Telangiectasia of the nasal mucosa.
HP:0000436	Abnormality of the nasal tip	biolink:PhenotypicFeature	hp	UMLS:C4025852	hposlim_core	Abnormality of the nasal tip|Abnormality of tip of nose|Deformity of the nasal tip|Deformity of tip of nose|Malformation of the nasal tip|Malformation of tip of nose	http://purl.obolibrary.org/obo/HP_0000436	An abnormality of the nasal tip.
HP:0000437	Depressed nasal tip	biolink:PhenotypicFeature	hp	UMLS:C1859717	hposlim_core	Caved in nasal tip|Depressed nasal tip|Depressed tip of nose|Flat nasal tip|Flat tip of nose|Flattened nasal tip|Nasal tip, depressed|Nasal tip, recessed|Nasal tip, retruded|Retruded tip of nose	http://purl.obolibrary.org/obo/HP_0000437	Decreased distance from the nasal tip to the nasal base.
HP:0000444	Convex nasal ridge	biolink:PhenotypicFeature	hp	UMLS:C0240538	hposlim_core	Beaked nose|Beaklike protrusion|Hooked nose|Polly beak nasal deformity|Convex dorsum of nose|Convex nasal dorsum	http://purl.obolibrary.org/obo/HP_0000444	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249321001|UMLS:C0426421	hposlim_core	Broad nose|Increased breadth of nose|Increased nasal breadth|Increased nasal width|Increased width of nose|Wide nose	http://purl.obolibrary.org/obo/HP_0000445	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	biolink:PhenotypicFeature	hp	UMLS:C4551564	hposlim_core	Narrow bridge of nose|Narrow nasal bridge|Nasal Bridge, Narrow|Nasal bridge, thin|Pinched bridge of nose|Pinched nasal bridge|Narrow nasal root	http://purl.obolibrary.org/obo/HP_0000446	Decreased width of the bony bridge of the nose.
HP:0000447	Pear-shaped nose	biolink:PhenotypicFeature	hp	UMLS:C1853482		Pear-shaped nose	http://purl.obolibrary.org/obo/HP_0000447	
HP:0000448	Prominent nose	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249311009|UMLS:C0426415|UMLS:C1400105|UMLS:C4280629	hposlim_core	Big nose|Disproportionately large nose|Increased nasal size|Increased size of nose|Large nose|Prominent nose|Pronounced nose|Hyperplasia of nose|Hypertrophy of nose|Nasal hyperplasia|Nasal hypertrophy	http://purl.obolibrary.org/obo/HP_0000448	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	biolink:PhenotypicFeature	hp	UMLS:C1839765		Triangular nasal tip|Triangular shaped tip of nose	http://purl.obolibrary.org/obo/HP_0000451	
HP:0000452	Choanal stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:306963008|UMLS:C0584837	hposlim_core	Narrowing of the rear opening of the nasal cavity|Coanal stenosis	http://purl.obolibrary.org/obo/HP_0000452	Abnormal narrowing of the choana (the posterior nasal aperture).
HP:0000453	Choanal atresia	biolink:PhenotypicFeature	hp	Fyler:4203|MSH:D002754|SNOMEDCT_US:204508009|UMLS:C0008297	hposlim_core	Blockage of the rear opening of the nasal cavity|Obstruction of the rear opening of the nasal cavity	http://purl.obolibrary.org/obo/HP_0000453	Absence or abnormal closure of the choana (the posterior nasal aperture).
HP:0000454	Flared nostrils	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873		Flared nostrils|Flared nasal alae	http://purl.obolibrary.org/obo/HP_0000454	
HP:0000455	Broad nasal tip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249327002|UMLS:C0426429		Broad nasal tip|Broad tip of nose|Broad, upturned nose|Increased breadth of nasal tip|Increased breadth of tip of nose|Increased width of nasal tip|Increased width of tip of nose|Nasal tip, broad|Nasal tip, wide|Wide tip of nose|Broad upturned nose	http://purl.obolibrary.org/obo/HP_0000455	Increase in width of the nasal tip.
HP:0000456	Bifid nasal tip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249326006|UMLS:C0426428|UMLS:C4020890		Cleft nasal tip|Cleft tip of nose|Notched nasal tip|Notched tip of nose|Bifid tip of nose	http://purl.obolibrary.org/obo/HP_0000456	A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.
HP:0000457	Depressed nasal ridge	biolink:PhenotypicFeature	hp	UMLS:C1842876	hposlim_core	Flat nose|Recessed nasal ridge|Depressed dorsum of nose|Depressed nasal dorsum|Flat dorsum of nose|Flat nasal dorsum|Recessed dorsum of nose|Recessed nasal dorsum|Retruded dorsum of nose|Retruded nasal dorsum|Retruded nasal ridge	http://purl.obolibrary.org/obo/HP_0000457	Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
HP:0000458	Anosmia	biolink:PhenotypicFeature	hp	MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126	hposlim_core	Lost smell|Loss of smell	http://purl.obolibrary.org/obo/HP_0000458	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249322008|UMLS:C0426422		Decreased nasal breadth|Decreased nasal width|Narrow nose|Thin nose	http://purl.obolibrary.org/obo/HP_0000460	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:708670007|UMLS:C1840077		Nasal tip, upturned|Upturned nasal tip|Upturned nose|Upturned nostrils|Anteverted nose|Anteverted nostrils|Nostrils anteverted|Upturned nares|Upturned nasal tips	http://purl.obolibrary.org/obo/HP_0000463	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298390003|SNOMEDCT_US:40052002|UMLS:C0266623|UMLS:C0575167|UMLS:C4280628	hposlim_core	Abnormality of the neck|Deformity of the neck|Malformation of the neck|Anomaly of the neck	http://purl.obolibrary.org/obo/HP_0000464	An abnormality of the neck.
HP:0000465	Webbed neck	biolink:PhenotypicFeature	hp	SNOMEDCT_US:11731003|UMLS:C0221217	hposlim_core	Neck webbing|Webbed neck|Pterygium colli	http://purl.obolibrary.org/obo/HP_0000465	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	biolink:PhenotypicFeature	hp	UMLS:C1859212		Limited neck range of motion|Limited cervical range of motion	http://purl.obolibrary.org/obo/HP_0000466	
HP:0000467	Neck muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C0240479		Floppy neck|Neck muscle weakness|Flaccid neck	http://purl.obolibrary.org/obo/HP_0000467	Decreased strength of the neck musculature.
HP:0000468	Increased adipose tissue around the neck	biolink:PhenotypicFeature	hp	UMLS:C4025850		Increased fat around the neck	http://purl.obolibrary.org/obo/HP_0000468	An increased amount of subcutaneous fat tissue around the neck.
HP:0000470	Short neck	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95427009|UMLS:C0521525	hposlim_core	Decreased length of neck|Short neck|Cervical shortening|Decreased cervical height|Decreased cervical length	http://purl.obolibrary.org/obo/HP_0000470	Diminished length of the neck.
HP:0000471	Gastrointestinal angiodysplasia	biolink:PhenotypicFeature	hp	UMLS:C0854242		GI angiodysplasia	http://purl.obolibrary.org/obo/HP_0000471	Dysplasia affecting the vasculature of the gastrointestinal tract.
HP:0000472	Long neck	biolink:PhenotypicFeature	hp	UMLS:C1839816	hposlim_core	Elongated neck|Increased length of neck|Long neck|Cervical elongation|Increased cervical length	http://purl.obolibrary.org/obo/HP_0000472	Increased inferior-superior length of the neck.
HP:0000473	Torticollis	biolink:PhenotypicFeature	hp	MSH:D014103|SNOMEDCT_US:270476009|SNOMEDCT_US:70070008|SNOMEDCT_US:74333002|UMLS:C0040485|UMLS:C0152116|UMLS:C0949445		Wry neck|Cervical dystonia|Loxia|Spasmodic torticollis	http://purl.obolibrary.org/obo/HP_0000473	Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
HP:0000474	Thickened nuchal skin fold	biolink:PhenotypicFeature	hp	UMLS:C1836940	hposlim_core	Thickened skin folds of neck|Thickened skin over the neck|Excess nuchal skin|Increased nuchal fold thickness|Thickened nuchal skin	http://purl.obolibrary.org/obo/HP_0000474	A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold 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. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637).
HP:0000475	Broad neck	biolink:PhenotypicFeature	hp	UMLS:C1853638	hposlim_core	Broad neck|Increased width of neck|Wide neck|Thick neck	http://purl.obolibrary.org/obo/HP_0000475	Increased side-to-side width of the neck.
HP:0000476	Cystic hygroma	biolink:PhenotypicFeature	hp	MSH:D018191|NCIT:C8965|SNOMEDCT_US:399882002|SNOMEDCT_US:40225001|SNOMEDCT_US:423984004|UMLS:C0206620		Cystic hygroma of the neck	http://purl.obolibrary.org/obo/HP_0000476	A cystic lymphatic lesion of the neck.
HP:0000478	Abnormality of the eye	biolink:PhenotypicFeature	hp	MSH:D005124|MSH:D005128|SNOMEDCT_US:19416009|SNOMEDCT_US:371405004|SNOMEDCT_US:371409005|UMLS:C0015393|UMLS:C0015397	hposlim_core	Abnormal eye|Abnormality of the eye|Eye disease	http://purl.obolibrary.org/obo/HP_0000478	Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
HP:0000479	Abnormal retinal morphology	biolink:PhenotypicFeature	hp	MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035300|UMLS:C0035309	hposlim_core	Retina issue|Abnormal retina|Abnormality of the retina|Anomaly of the retina|Retinal disease	http://purl.obolibrary.org/obo/HP_0000479	A structural abnormality of the retina.
HP:0000480	Retinal coloboma	biolink:PhenotypicFeature	hp	UMLS:C3540764	hposlim_core	Hole in the back of the eye	http://purl.obolibrary.org/obo/HP_0000480	A notch or cleft of the retina.
HP:0000481	Abnormal cornea morphology	biolink:PhenotypicFeature	hp	UMLS:C1855670|UMLS:C4020889	hposlim_core	Abnormality of the cornea|Corneal abnormalities|Corneal abnormality|Cornela disease	http://purl.obolibrary.org/obo/HP_0000481	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26098002|UMLS:C0266544|UMLS:C1167713	hposlim_core	Cornea of eye less than 10mm in diameter|Decreased corneal diameter	http://purl.obolibrary.org/obo/HP_0000482	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	biolink:PhenotypicFeature	hp	MSH:D001251|SNOMEDCT_US:82649003|UMLS:C0004106	hposlim_core	Abnormal curving of the cornea or lens of the eye|Astigmatism	http://purl.obolibrary.org/obo/HP_0000483	A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
HP:0000484	Hyperopic astigmatism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:449734001|UMLS:C1847524			http://purl.obolibrary.org/obo/HP_0000484	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	biolink:PhenotypicFeature	hp	MSH:C562829|SNOMEDCT_US:204118005|SNOMEDCT_US:268158009|UMLS:C0344530|UMLS:C1167712	hposlim_core	Enlarged cornea|Anterior megalophthalmos|Increased corneal diameter|Macrocornea	http://purl.obolibrary.org/obo/HP_0000485	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	biolink:PhenotypicFeature	hp	MSH:D013285|SNOMEDCT_US:128602000|SNOMEDCT_US:22066006|UMLS:C0038379	hposlim_core	Cross-eyed|Squint|Squint eyes	http://purl.obolibrary.org/obo/HP_0000486	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:0000487	obsolete Congenital strabismus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000487	
HP:0000488	Retinopathy	biolink:PhenotypicFeature	hp	MSH:D012164|SNOMEDCT_US:29555009|UMLS:C0035309	hposlim_core	Noninflammatory retina disease	http://purl.obolibrary.org/obo/HP_0000488	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:0000489	obsolete Abnormality of globe location or size	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000489	
HP:0000490	Deeply set eye	biolink:PhenotypicFeature	hp	MSH:D015841|SNOMEDCT_US:246923005|SNOMEDCT_US:80093006|UMLS:C0014306|UMLS:C0423224	hposlim_core	Deep set eye|Deep-set eyes|Deeply set eye|Sunken eye|Enophthalmos|Ocular depression|Sunken eyes	http://purl.obolibrary.org/obo/HP_0000490	An eye that is more deeply recessed into the plane of the face than is typical.
HP:0000491	Keratitis	biolink:PhenotypicFeature	hp	MSH:D007634|SNOMEDCT_US:5888003|UMLS:C0022568	hposlim_core	Corneal inflammation	http://purl.obolibrary.org/obo/HP_0000491	Inflammation of the cornea.
HP:0000492	Abnormal eyelid morphology	biolink:PhenotypicFeature	hp	UMLS:C4021803	hposlim_core	Abnormality of the eyelid|Abnormality of the eyelids	http://purl.obolibrary.org/obo/HP_0000492	An abnormality of the eyelids.
HP:0000493	Abnormal foveal morphology	biolink:PhenotypicFeature	hp	UMLS:C4025849		Abnormality of the fovea	http://purl.obolibrary.org/obo/HP_0000493	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246800008|UMLS:C0423110	hposlim_core	Downward slanting of the opening between the eyelids|Antimongoloid eye slant|Antimongoloid slant of palpebral fissures|Antimongoloid slanted palpebral fissures|Down slanting palpebral fissures|Down-slanted palpebral fissures|Down-slanting palpebral fissure|Down-slanting palpebral fissures|Downslanting palpebral fissure|Downslanting palpebral fissures|Downward slanted palpebral fissures|Downward slanting palpebral fissures|Downward-slanting palpebral fissures|Palpebral fissures down-slanted	http://purl.obolibrary.org/obo/HP_0000494	The palpebral fissure inclination is more than two standard deviations below the mean.
HP:0000495	Recurrent corneal erosions	biolink:PhenotypicFeature	hp	MSH:D003320|SNOMEDCT_US:2055003|SNOMEDCT_US:91514001|UMLS:C0010043|UMLS:C0155119|UMLS:C4020888		Recurrent breakdown of clear protective layer of eye|Corneal erosions, recurrent|Recurrent corneal ulceration|Epithelial corneal erosions|Recurrent corneal ulcerations	http://purl.obolibrary.org/obo/HP_0000495	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:103252009|UMLS:C0497202	hposlim_core	Abnormal eye movement|Abnormal eye movements|Abnormality of eye movement|Eye movement abnormalities|Eye movement issue|Abnormal extraocular movement|Abnormal extraocular movements|Abnormal eye motility|Abnormal motility of the globe of the eye|Abnormal movement of the globe of the eye|Abnormal ocular movements|Ocular movement abnormalities|Oculomotor abnormalities	http://purl.obolibrary.org/obo/HP_0000496	An abnormality in voluntary or involuntary eye movements or their control.
HP:0000497	Globe retraction and deviation on abduction	biolink:PhenotypicFeature	hp	UMLS:C4025848			http://purl.obolibrary.org/obo/HP_0000497	
HP:0000498	Blepharitis	biolink:PhenotypicFeature	hp	MSH:D001762|SNOMEDCT_US:231796003|SNOMEDCT_US:41446000|UMLS:C0005741|UMLS:C0339063	hposlim_core	Inflammation of eyelids|Cellulitis of eyelids	http://purl.obolibrary.org/obo/HP_0000498	Inflammation of the eyelids.
HP:0000499	Abnormal eyelash morphology	biolink:PhenotypicFeature	hp	UMLS:C2675111	hposlim_core	Abnormal eyelashes|Abnormality of the eyelashes|Eyelash abnormality	http://purl.obolibrary.org/obo/HP_0000499	An abnormality of the eyelashes.
HP:0000501	Glaucoma	biolink:PhenotypicFeature	hp	MSH:D005901|SNOMEDCT_US:23986001|UMLS:C0017601	hposlim_core		http://purl.obolibrary.org/obo/HP_0000501	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	biolink:PhenotypicFeature	hp	UMLS:C4025847	hposlim_core		http://purl.obolibrary.org/obo/HP_0000502	An abnormality of the conjunctiva.
HP:0000503	Tortuosity of conjunctival vessels	biolink:PhenotypicFeature	hp	UMLS:C1855391			http://purl.obolibrary.org/obo/HP_0000503	The presence of an increased number of twists and turns of the conjunctival blood vessels.
HP:0000504	Abnormality of vision	biolink:PhenotypicFeature	hp	UMLS:C4025846	hposlim_core	Abnormality of sight|Abnormality of vision|Vision issue	http://purl.obolibrary.org/obo/HP_0000504	Abnormality of eyesight (visual perception).
HP:0000505	Visual impairment	biolink:PhenotypicFeature	hp	MSH:D014786|MSH:D015354|SNOMEDCT_US:246635007|SNOMEDCT_US:397540003|SNOMEDCT_US:7973008|UMLS:C0042798|UMLS:C3665347	hposlim_core	Impaired vision|Loss of eyesight|Poor vision|Visual impairment	http://purl.obolibrary.org/obo/HP_0000505	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	biolink:PhenotypicFeature	hp	MSH:C562941|SNOMEDCT_US:246803005|UMLS:C0423113	hposlim_core	Corners of eye widely separated|Dystopia canthorum|Increased distance between medial canthi|Increased intercanthal distance	http://purl.obolibrary.org/obo/HP_0000506	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	biolink:PhenotypicFeature	hp	MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745	hposlim_core	Drooping upper eyelid|Eye drop|Blepharoptosis|Eyelid ptosis	http://purl.obolibrary.org/obo/HP_0000508	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	biolink:PhenotypicFeature	hp	MSH:D003231|SNOMEDCT_US:9826008|UMLS:C0009763|UMLS:C1864156	hposlim_core	Pink eye|Conjunctivitis, recurrent	http://purl.obolibrary.org/obo/HP_0000509	Inflammation of the conjunctiva.
HP:0000510	Rod-cone dystrophy	biolink:PhenotypicFeature	hp	MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334	hposlim_core	Retinitis pigmentosa|Rod cone dystrophy	http://purl.obolibrary.org/obo/HP_0000510	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246773002|UMLS:C0339652|UMLS:C1843369		Vertical gaze palsy	http://purl.obolibrary.org/obo/HP_0000511	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274524001|UMLS:C0476397	hposlim_core	Abnormal ERG|Abnormal electroretinography|ERG abnormal	http://purl.obolibrary.org/obo/HP_0000512	Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
HP:0000514	Slow saccadic eye movements	biolink:PhenotypicFeature	hp	SNOMEDCT_US:404686001|UMLS:C1321329	hposlim_core	Slow eye movements|Slow saccades|Slow visual tracking	http://purl.obolibrary.org/obo/HP_0000514	An abnormally slow velocity of the saccadic eye movements.
HP:0000517	Abnormality of the lens	biolink:PhenotypicFeature	hp	MSH:D007905|SNOMEDCT_US:10810001|UMLS:C0023308|UMLS:C0549651		Abnormality of the lens|Lens issue|Lens disease	http://purl.obolibrary.org/obo/HP_0000517	An abnormality of the lens.
HP:0000518	Cataract	biolink:PhenotypicFeature	hp	Fyler:4865|MSH:D002386|SNOMEDCT_US:128306009|SNOMEDCT_US:193570009|SNOMEDCT_US:247053007|UMLS:C0086543|UMLS:C1510497	hposlim_core	Clouding of the lens of the eye|Cloudy lens|Cataracts|Lens opacities|Lens opacity	http://purl.obolibrary.org/obo/HP_0000518	A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
HP:0000519	Developmental cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:609587005|SNOMEDCT_US:79410001|UMLS:C0009691|UMLS:C3277059	hposlim_core	Clouding of the lens of the eye at birth|Bilateral congenital cataracts|Cataract, congenital|Congenital cataract|Congenital cataracts|Congenital cataracts, bilateral	http://purl.obolibrary.org/obo/HP_0000519	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	biolink:PhenotypicFeature	hp	MSH:D005094|SNOMEDCT_US:18265008|UMLS:C0015300|UMLS:C1837760|UMLS:C1848490|UMLS:C1862425	hposlim_core	Bulging eye|Eyeballs bulging out|Prominent eyes|Prominent globes|Protruding eyes|Anterior bulging of the globe|Anterior bulging of the globe of eye|Exophthalmos|Ocular proptosis|Protrusio bulbi	http://purl.obolibrary.org/obo/HP_0000520	An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
HP:0000522	Alacrima	biolink:PhenotypicFeature	hp	MSH:C562827|SNOMEDCT_US:253215004|UMLS:C0344505	hposlim_core	Absence of tears in the eyes|Absent tear secretion|Absent lacrimal fluids	http://purl.obolibrary.org/obo/HP_0000522	Absence of tear secretion.
HP:0000523	Subcapsular cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95723009|UMLS:C0235259		Subcapsular cataracts|Subcapsular lenticular cataracts|Subcapsular opacities	http://purl.obolibrary.org/obo/HP_0000523	A cataract that affects the region of the lens directly beneath the capsule of the lens.
HP:0000524	Conjunctival telangiectasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:231870008|UMLS:C0239105	hposlim_core	Small dilated blood vessels near membrane covering front of eye and eyelids|Conjunctival telangiectases|Telangiectasia, conjunctival	http://purl.obolibrary.org/obo/HP_0000524	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	biolink:PhenotypicFeature	hp	UMLS:C4025845	hposlim_core	Abnormality of the iris	http://purl.obolibrary.org/obo/HP_0000525	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	biolink:PhenotypicFeature	hp	MSH:D015783|SNOMEDCT_US:69278003|UMLS:C0003076	hposlim_core	Absent iris	http://purl.obolibrary.org/obo/HP_0000526	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	biolink:PhenotypicFeature	hp	UMLS:C1853738	hposlim_core	Increased length of eyelashes|Long eyelashes|Unusually long eyelashes|Ciliary trichomegaly|Eyelash trichomegaly	http://purl.obolibrary.org/obo/HP_0000527	Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
HP:0000528	Anophthalmia	biolink:PhenotypicFeature	hp	Fyler:4864|MSH:D000853|SNOMEDCT_US:204099004|SNOMEDCT_US:7183006|UMLS:C0003119	hposlim_core	Absence of eyeballs|Failure of development of eyeball|Missing eyeball|No eyeball|Absence of globes of eyes|Anophthalmia, clinical|Clinical anophthalmia, unilateral/bilateral|Missing globe of eye|No globe of eye|Ocular absence	http://purl.obolibrary.org/obo/HP_0000528	Absence of the globe or eyeball.
HP:0000529	Progressive visual loss	biolink:PhenotypicFeature	hp	UMLS:C1839364|UMLS:C3277697	hposlim_core	Progressive loss of vision|Progressive vision loss|Progressive visual impairment|Slowly progressive visual loss|Vision loss, progressive|Visual loss, progressive|Loss of visual acuity|Progressive visual acuity loss|Decreased visual acuity, progressive	http://purl.obolibrary.org/obo/HP_0000529	A reduction of previously attained ability to see.
HP:0000531	Corneal crystals	biolink:PhenotypicFeature	hp	UMLS:C1096610		Corneal deposits	http://purl.obolibrary.org/obo/HP_0000531	
HP:0000532	Abnormal chorioretinal morphology	biolink:PhenotypicFeature	hp	UMLS:C4025844		Chorioretinal abnormality	http://purl.obolibrary.org/obo/HP_0000532	An abnormality of the choroid and retina.
HP:0000533	Chorioretinal atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95686007|UMLS:C4048273		Chorioretinal thinning	http://purl.obolibrary.org/obo/HP_0000533	Atrophy of the choroid and retinal layers of the fundus.
HP:0000534	Abnormal eyebrow morphology	biolink:PhenotypicFeature	hp	UMLS:C4011556	hposlim_core	Abnormality of the eyebrow	http://purl.obolibrary.org/obo/HP_0000534	An abnormality of the eyebrow.
HP:0000535	Sparse and thin eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1832446	hposlim_core	Sparse and thin eyebrow|Thin, sparse eyebrows	http://purl.obolibrary.org/obo/HP_0000535	Decreased density/number and/or decreased diameter of eyebrow hairs.
HP:0000537	Epicanthus inversus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:400956000|UMLS:C1303003	hposlim_core		http://purl.obolibrary.org/obo/HP_0000537	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	biolink:PhenotypicFeature	hp	MSH:C562401|SNOMEDCT_US:57138009|UMLS:C0155300	hposlim_core		http://purl.obolibrary.org/obo/HP_0000538	Apparent optic disc swelling in the absence of increased intracranial pressure.
HP:0000539	Abnormality of refraction	biolink:PhenotypicFeature	hp	UMLS:C4025843			http://purl.obolibrary.org/obo/HP_0000539	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	biolink:PhenotypicFeature	hp	MSH:D006956|SNOMEDCT_US:38101003|UMLS:C0020490	hposlim_core	Farsightedness|Long-sightedness|Hyperopia	http://purl.obolibrary.org/obo/HP_0000540	An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
HP:0000541	Retinal detachment	biolink:PhenotypicFeature	hp	MSH:D012163|SNOMEDCT_US:42059000|UMLS:C0035305	hposlim_core	Detached retina|Retinal detachment	http://purl.obolibrary.org/obo/HP_0000541	Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
HP:0000542	Impaired ocular adduction	biolink:PhenotypicFeature	hp	UMLS:C1846463			http://purl.obolibrary.org/obo/HP_0000542	Reduced ability to move the eye in the direction of the nose.
HP:0000543	Optic disc pallor	biolink:PhenotypicFeature	hp	SNOMEDCT_US:302200001|UMLS:C0554970	hposlim_core	Pale optic disc|Pale optic disk|Disc pallor|Optic disk pallor|Pale optic discs	http://purl.obolibrary.org/obo/HP_0000543	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	biolink:PhenotypicFeature	hp	MSH:D009886|MSH:D017246|SNOMEDCT_US:19373007|SNOMEDCT_US:46252003|UMLS:C0162292|UMLS:C0162674		CPEO|Paralysis or weakness of muscles within or surrounding outer part of eye|Chronic progressive external ophthalmoplegia|Ophthalmoplegia externa|Progressive paralysis or weakness of muscles of eye motility|Progressive paralysis or weakness of muscles of eye movement	http://purl.obolibrary.org/obo/HP_0000544	Paralysis of the external ocular muscles.
HP:0000545	Myopia	biolink:PhenotypicFeature	hp	MSH:D009216|SNOMEDCT_US:57190000|UMLS:C0027092	hposlim_core	Close sighted|Near sighted|Near sightedness|Nearsightedness	http://purl.obolibrary.org/obo/HP_0000545	An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
HP:0000546	Retinal degeneration	biolink:PhenotypicFeature	hp	MSH:D012162|SNOMEDCT_US:95695004|UMLS:C0035304	hposlim_core	Retina degeneration	http://purl.obolibrary.org/obo/HP_0000546	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
HP:0000547	obsolete Tapetoretinal degeneration	biolink:PhenotypicFeature	hp			Retinotapetal degeneration	http://purl.obolibrary.org/obo/HP_0000547	
HP:0000548	Cone/cone-rod dystrophy	biolink:PhenotypicFeature	hp	MSH:D012174		Cone rod dystrophy|Cone-rod retinal dystrophy	http://purl.obolibrary.org/obo/HP_0000548	
HP:0000549	Abnormal conjugate eye movement	biolink:PhenotypicFeature	hp	UMLS:C1845274		Disconjugate eye movements	http://purl.obolibrary.org/obo/HP_0000549	Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
HP:0000550	Undetectable electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C1855685		Abolished electroretinogram|Absent electroretinogram|Extinction of electroretinogram|Extinguished electroretinogram|No light-evoked response on electroretinogram|Undetectable ERG	http://purl.obolibrary.org/obo/HP_0000550	Lack of any response to stimulation upon electroretinography.
HP:0000551	Color vision defect	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:23289000|SNOMEDCT_US:367469000|UMLS:C0009398|UMLS:C0234629|UMLS:C3552853		Abnormal color vision|Abnormality of color vision|Colour vision defect|Color vision defect, severe|Color vision defects|Abnormality of colour vision|Loss in color vision	http://purl.obolibrary.org/obo/HP_0000551	An anomaly in the ability to discriminate between or recognize colors.
HP:0000552	Tritanomaly	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:51886007|SNOMEDCT_US:85049009|UMLS:C0155017|UMLS:C1970167		Blue yellow color blindness|Blue-yellow dyschromatopsia|Dyschromatopsia, blue-yellow|Blue/yellow color vision defect	http://purl.obolibrary.org/obo/HP_0000552	Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.
HP:0000553	Abnormal uvea morphology	biolink:PhenotypicFeature	hp	UMLS:C4025842		Abnormality of the uvea	http://purl.obolibrary.org/obo/HP_0000553	An abnormality of the uvea, the vascular layer of the eyeball.
HP:0000554	Uveitis	biolink:PhenotypicFeature	hp	MSH:D014605|SNOMEDCT_US:128473001|UMLS:C0042164	hposlim_core		http://purl.obolibrary.org/obo/HP_0000554	Inflammation of one or all portions of the uveal tract.
HP:0000555	Leukocoria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1361009|UMLS:C0152458		Leukokoria|White pupillary reflex	http://purl.obolibrary.org/obo/HP_0000555	An abnormal white reflection from the pupil rather than the usual black reflection.
HP:0000556	Retinal dystrophy	biolink:PhenotypicFeature	hp	MSH:D058499|SNOMEDCT_US:314407005|UMLS:C0854723		Breakdown of light-sensitive cells in back of eye	http://purl.obolibrary.org/obo/HP_0000556	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	biolink:PhenotypicFeature	hp	MSH:D006871|UMLS:C4551507	hposlim_core	Enlarged eyeball	http://purl.obolibrary.org/obo/HP_0000557	Diffusely large eye (with megalocornea) associated with glaucoma.
HP:0000558	Rieger anomaly	biolink:PhenotypicFeature	hp	MSH:C535679|SNOMEDCT_US:47507006|UMLS:C0265341			http://purl.obolibrary.org/obo/HP_0000558	A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
HP:0000559	Corneal scarring	biolink:PhenotypicFeature	hp	MSH:D065306|SNOMEDCT_US:95726001|UMLS:C0349702			http://purl.obolibrary.org/obo/HP_0000559	
HP:0000561	Absent eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1843005|UMLS:C4280626|UMLS:C4280627	hposlim_core	Absent eyelashes|Failure of development of eyelashes|Atrichia of eyelashes|Agenesis of eyelashes|Aplasia of eyelashes	http://purl.obolibrary.org/obo/HP_0000561	Lack of eyelashes.
HP:0000563	Keratoconus	biolink:PhenotypicFeature	hp	MSH:D007640|SNOMEDCT_US:65636009|UMLS:C0022578	hposlim_core	Bulging cornea|Conical cornea	http://purl.obolibrary.org/obo/HP_0000563	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:278530008|UMLS:C0344511		Unopened tear duct|Imperforate nasolacrimal ducts|Nasolacrimal duct atresia	http://purl.obolibrary.org/obo/HP_0000564	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	biolink:PhenotypicFeature	hp	MSH:D004948|SNOMEDCT_US:16596007|UMLS:C0014877	hposlim_core	Inward turning cross eyed	http://purl.obolibrary.org/obo/HP_0000565	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39302008|UMLS:C0240896		Birth defect that causes a hole in the innermost layer at the back of the eye|Choroidoretinal coloboma|Choroid coloboma|Choroidal coloboma|Coloboma of choroid	http://purl.obolibrary.org/obo/HP_0000567	Absence of a region of the retina, retinal pigment epithelium, and choroid.
HP:0000568	Microphthalmia	biolink:PhenotypicFeature	hp	Fyler:4877|MSH:D008850|SNOMEDCT_US:204108000|SNOMEDCT_US:61142002|UMLS:C0026010|UMLS:C4280625|UMLS:C4280808	hposlim_core	Decreased size of eyeball|Abnormally small eyeball|Decreased size of globe of eye|Abnormally small globe of eye|Microphthalmos|Nanophthalmos	http://purl.obolibrary.org/obo/HP_0000568	A developmental anomaly characterized by abnormal smallness of one or both eyes.
HP:0000570	Abnormal saccadic eye movements	biolink:PhenotypicFeature	hp	UMLS:C1842584|UMLS:C4025841		Abnormality of saccadic eye movements|Impaired saccades	http://purl.obolibrary.org/obo/HP_0000570	An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
HP:0000571	Hypometric saccades	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246768008|UMLS:C0423082			http://purl.obolibrary.org/obo/HP_0000571	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:7973008|UMLS:C3665386		Loss of vision|Vision loss|Visual loss	http://purl.obolibrary.org/obo/HP_0000572	Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
HP:0000573	Retinal hemorrhage	biolink:PhenotypicFeature	hp	MSH:D012166|SNOMEDCT_US:28998008|UMLS:C0035317	hposlim_core	Retinal bleeding|Retinal hemorrhages|Retinal haemorrhage	http://purl.obolibrary.org/obo/HP_0000573	Hemorrhage occurring within the retina.
HP:0000574	Thick eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1853487	hposlim_core	Bushy eyebrows|Dense eyebrow|Heavy eyebrows|Prominent eyebrows|Thick eyebrow|Thick eyebrows|Hypertrichosis of the eyebrow|Hypertrichosis of the eyebrows	http://purl.obolibrary.org/obo/HP_0000574	Increased density/number and/or increased diameter of eyebrow hairs.
HP:0000575	Scotoma	biolink:PhenotypicFeature	hp	MSH:D009898|MSH:D012607|SNOMEDCT_US:23388006|SNOMEDCT_US:81016008|UMLS:C0036454|UMLS:C0344233	hposlim_core	Blind spot	http://purl.obolibrary.org/obo/HP_0000575	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	biolink:PhenotypicFeature	hp	MSH:D012607|SNOMEDCT_US:33014001|UMLS:C0271196			http://purl.obolibrary.org/obo/HP_0000576	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	biolink:PhenotypicFeature	hp	MSH:D005099|SNOMEDCT_US:399054005|SNOMEDCT_US:399252000|UMLS:C0015310	hposlim_core	Outward facing eye ball	http://purl.obolibrary.org/obo/HP_0000577	A form of strabismus with one or both eyes deviated outward.
HP:0000579	Nasolacrimal duct obstruction	biolink:PhenotypicFeature	hp	MSH:D007767|SNOMEDCT_US:231841004|SNOMEDCT_US:246865000|SNOMEDCT_US:314022009|SNOMEDCT_US:416920000|UMLS:C0022906|UMLS:C1281931	hposlim_core	Blocked tear duct|Lacrimal duct obstruction	http://purl.obolibrary.org/obo/HP_0000579	Blockage of the lacrimal duct.
HP:0000580	Pigmentary retinopathy	biolink:PhenotypicFeature	hp	MSH:D012174|SNOMEDCT_US:28835009|UMLS:C0035334		Pigmentary retinal deposits|Retinal pigment clumping|Retinal pigmentary clumping|Retinal pigmentary degeneration	http://purl.obolibrary.org/obo/HP_0000580	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	biolink:PhenotypicFeature	hp	MSH:D016569|UMLS:C0005744	hposlim_core	Narrow opening between the eyelids|Decreased width of palpebral fissure	http://purl.obolibrary.org/obo/HP_0000581	A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
HP:0000582	Upslanted palpebral fissure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246799009|UMLS:C0423109	hposlim_core	Upward slanting of the opening between the eyelids|Mongoloid slant|Upslanting palpebral fissures|Upward slanted palpebral fissures|Upward slanting of palpebral fissures|Upward slanting palpebral fissures|Upslanted palpebral fissures	http://purl.obolibrary.org/obo/HP_0000582	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	biolink:PhenotypicFeature	hp	UMLS:C1832170			http://purl.obolibrary.org/obo/HP_0000584	
HP:0000585	Band keratopathy	biolink:PhenotypicFeature	hp	MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120	hposlim_core	Calcific band keratopathy	http://purl.obolibrary.org/obo/HP_0000585	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	biolink:PhenotypicFeature	hp	UMLS:C1865244		Decreased depth of eye sockets|Shallow eye sockets|Decreased depth of orbits|Small shallow orbits	http://purl.obolibrary.org/obo/HP_0000586	Reduced depth of the orbits associated with prominent-appearing ocular globes.
HP:0000587	Abnormality of the optic nerve	biolink:PhenotypicFeature	hp	UMLS:C0029131	hposlim_core	Optic nerve issue|optic nerve abnormalities	http://purl.obolibrary.org/obo/HP_0000587	Abnormality of the optic nerve.
HP:0000588	Optic nerve coloboma	biolink:PhenotypicFeature	hp	MSH:C535970|SNOMEDCT_US:17541006|SNOMEDCT_US:44295002|UMLS:C0155299	hposlim_core	Coloboma of optic nerve|Optic disk coloboma	http://purl.obolibrary.org/obo/HP_0000588	A cleft of the optic nerve that extends inferiorly.
HP:0000589	Coloboma	biolink:PhenotypicFeature	hp	Fyler:4311|MSH:D003103|SNOMEDCT_US:92828000|SNOMEDCT_US:93390002|UMLS:C0009363		Notched pupil|Ocular coloboma|Ocular colobomas	http://purl.obolibrary.org/obo/HP_0000589	A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
HP:0000590	Progressive external ophthalmoplegia	biolink:PhenotypicFeature	hp	MSH:D017246|SNOMEDCT_US:46252003|UMLS:C0162674		External ophthalmoplegia, progressive	http://purl.obolibrary.org/obo/HP_0000590	Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.
HP:0000591	Abnormal sclera morphology	biolink:PhenotypicFeature	hp	UMLS:C4025840	hposlim_core	Abnormality of the outer white part of eyeball|Abnormality of the sclera	http://purl.obolibrary.org/obo/HP_0000591	An abnormality of the sclera.
HP:0000592	Blue sclerae	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204164000|UMLS:C0542514	hposlim_core	Blue outer white part of eyeball|Whites of eyes are a bluish-gray color|Blue sclera|Bluish sclerae	http://purl.obolibrary.org/obo/HP_0000592	An abnormal bluish coloration of the sclera.
HP:0000593	Abnormal anterior chamber morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204142009|UMLS:C3152182	hposlim_core	Abnormality of the anterior chamber|Anterior chamber anomalies|Ocular anterior chamber abnormality	http://purl.obolibrary.org/obo/HP_0000593	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246986004|UMLS:C0423276			http://purl.obolibrary.org/obo/HP_0000594	Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
HP:0000597	Ophthalmoparesis	biolink:PhenotypicFeature	hp	MSH:D009886|UMLS:C0751401		Weakness of muscles controlling eye movement|Extraocular muscle palsy|Extraocular muscle paralysis|Weakness of extraocular eye movement	http://purl.obolibrary.org/obo/HP_0000597	Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
HP:0000598	Abnormality of the ear	biolink:PhenotypicFeature	hp	SNOMEDCT_US:275259005|UMLS:C0266589	hposlim_core	Abnormality of the ear|Ear anomaly	http://purl.obolibrary.org/obo/HP_0000598	An abnormality of the ear.
HP:0000599	Abnormality of the frontal hairline	biolink:PhenotypicFeature	hp	UMLS:C4025839		Abnormality of hairline at front of head|Abnormality of the frontal hairline	http://purl.obolibrary.org/obo/HP_0000599	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	biolink:PhenotypicFeature	hp	UMLS:C4025838			http://purl.obolibrary.org/obo/HP_0000600	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:44593008|UMLS:C0424711	hposlim_core	Abnormally close eyes|Closely spaced eyes|Decreased distance between eye sockets|Decreased distance between eyes|Decreased interpupillary distance|Decreased orbital separation|Ocular hypotelorism	http://purl.obolibrary.org/obo/HP_0000601	Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
HP:0000602	Ophthalmoplegia	biolink:PhenotypicFeature	hp	MSH:D009886|SNOMEDCT_US:16110005|UMLS:C0029089		Eye muscle paralysis|Paralysis of extraocular eye movement	http://purl.obolibrary.org/obo/HP_0000602	Paralysis of one or more extraocular muscles that are responsible for eye movements.
HP:0000603	Central scotoma	biolink:PhenotypicFeature	hp	MSH:D012607|SNOMEDCT_US:38950008|UMLS:C0152191|UMLS:C4280624	hposlim_core	Blind spot located at fixation point|Central blind spot|Central scotomata	http://purl.obolibrary.org/obo/HP_0000603	An area of depressed vision located at the point of fixation and that interferes with central vision.
HP:0000605	Supranuclear gaze palsy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:420675003|UMLS:C1720037		Supranuclear gaze paralysis	http://purl.obolibrary.org/obo/HP_0000605	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	biolink:PhenotypicFeature	hp	UMLS:C4025837		Abnormality of the region around the eye|Abnormality of the region around the eye socket|Anomaly of the periorbital region|Deformity of the periorbital region|Malformation of the periorbital region	http://purl.obolibrary.org/obo/HP_0000606	An abnormality of the region situated around the orbit of the eye.
HP:0000607	Periorbital wrinkles	biolink:PhenotypicFeature	hp	UMLS:C1844605		Wrinkles around the eyes|Excess periorbital skin wrinkling|Periorbital rhytids|Periorbital wrinkling	http://purl.obolibrary.org/obo/HP_0000607	
HP:0000608	Macular degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:422338006|UMLS:C0024437		Pigmented macular degeneration	http://purl.obolibrary.org/obo/HP_0000608	A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
HP:0000609	Optic nerve hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95499004|UMLS:C0338502		Hypoplastic optic nerves|Underdeveloped optic nerves	http://purl.obolibrary.org/obo/HP_0000609	Underdevelopment of the optic nerve.
HP:0000610	Abnormal choroid morphology	biolink:PhenotypicFeature	hp	MSH:D015862|UMLS:C0008521|UMLS:C4025836	hposlim_core	Abnormality of the choroid|Choroid disease	http://purl.obolibrary.org/obo/HP_0000610	Any structural abnormality of the choroid.
HP:0000611	obsolete Choroid coloboma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000611	
HP:0000612	Iris coloboma	biolink:PhenotypicFeature	hp	UMLS:C0240063	hposlim_core	Cat eye|Coloboma of iris|Coloboma of the iris|Keyhole iris	http://purl.obolibrary.org/obo/HP_0000612	A coloboma of the iris.
HP:0000613	Photophobia	biolink:PhenotypicFeature	hp	MSH:D020795|SNOMEDCT_US:246622003|SNOMEDCT_US:409668002|UMLS:C0085636|UMLS:C4020887	hposlim_core	Extreme sensitivity of the eyes to light|Light hypersensitivity|Photodysphoria	http://purl.obolibrary.org/obo/HP_0000613	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	biolink:PhenotypicFeature	hp	UMLS:C4025835	hposlim_core	Abnormality of the nasolacrimal system	http://purl.obolibrary.org/obo/HP_0000614	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274093008|UMLS:C0154936	hposlim_core	Abnormality of the pupil|Pupillary abnormalities|Pupillary abnormality|Abnormal pupillary morphology	http://purl.obolibrary.org/obo/HP_0000615	An abnormality of the pupil.
HP:0000616	Miosis	biolink:PhenotypicFeature	hp	MSH:D015877|SNOMEDCT_US:63251006|UMLS:C0026205	hposlim_core	Constricted pupils|Pupillary constriction	http://purl.obolibrary.org/obo/HP_0000616	Abnormal (non-physiological) constriction of the pupil.
HP:0000617	Abnormality of ocular smooth pursuit	biolink:PhenotypicFeature	hp	UMLS:C1836393		Abnormal smooth pursuits|Disrupted ocular pursuit movements|Impaired smooth pursuit ocular movements|Irregular visual pursuit movements	http://purl.obolibrary.org/obo/HP_0000617	An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
HP:0000618	Blindness	biolink:PhenotypicFeature	hp	Fyler:4866|MSH:D001766|SNOMEDCT_US:65956007|UMLS:C0271215|UMLS:C0456909	hposlim_core	Blindness|Legal blindness|Total vision loss	http://purl.obolibrary.org/obo/HP_0000618	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 degress in radius around central fixation.
HP:0000619	Impaired convergence	biolink:PhenotypicFeature	hp	MSH:D015835|SNOMEDCT_US:194131002|UMLS:C0271379		Convergence insufficiency	http://purl.obolibrary.org/obo/HP_0000619	Reduced ability to turn the eyes inward in order to focus on a nearby object.
HP:0000620	Dacryocystitis	biolink:PhenotypicFeature	hp	MSH:D003607|SNOMEDCT_US:85777005|UMLS:C0010930		Dacrocystitis|Infection of the lacrimal sac	http://purl.obolibrary.org/obo/HP_0000620	Inflammation of the nasolacrimal sac.
HP:0000621	Entropion	biolink:PhenotypicFeature	hp	MSH:D004774|SNOMEDCT_US:33168009|UMLS:C0014390	hposlim_core	Eyelid folded in|Eyelid turned in|Inverted eyelid	http://purl.obolibrary.org/obo/HP_0000621	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111516008|SNOMEDCT_US:246636008|UMLS:C0344232	hposlim_core	Blurred vision	http://purl.obolibrary.org/obo/HP_0000622	Lack of sharpness of vision resulting in the inability to see fine detail.
HP:0000623	Supranuclear ophthalmoplegia	biolink:PhenotypicFeature	hp	UMLS:C1408507	hposlim_core		http://purl.obolibrary.org/obo/HP_0000623	A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
HP:0000625	Eyelid coloboma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95202004|UMLS:C0521573	hposlim_core	Cleft eyelid|Notched eyelid|Eyelid coloboma|Full thickness defect of the eyelid	http://purl.obolibrary.org/obo/HP_0000625	A short discontinuity of the margin of the lower or upper eyelid.
HP:0000627	Posterior embryotoxon	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253228006|SNOMEDCT_US:392437005|UMLS:C0344531|UMLS:C0546967	hposlim_core	Embryotoxon	http://purl.obolibrary.org/obo/HP_0000627	A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
HP:0000629	Periorbital fullness	biolink:PhenotypicFeature	hp	UMLS:C1858036		Puffiness around eye|Fullness around the eyes|Periorbital puffiness|Periorbital swelling|Puffy eyes|Swelling around the eyes	http://purl.obolibrary.org/obo/HP_0000629	Increase in periorbital soft tissue.
HP:0000630	Abnormal retinal artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4021802		Abnormality of retinal arteries|Retinal arterial abnormality	http://purl.obolibrary.org/obo/HP_0000630	
HP:0000631	Retinal arterial tortuosity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247123003|UMLS:C0423401	hposlim_core	Retinal artery tortuousity	http://purl.obolibrary.org/obo/HP_0000631	The presence of an increased number of twists and turns of the retinal artery.
HP:0000632	Lacrimation abnormality	biolink:PhenotypicFeature	hp	UMLS:C4021801		Abnormality of tear production	http://purl.obolibrary.org/obo/HP_0000632	Abnormality of tear production.
HP:0000633	Decreased lacrimation	biolink:PhenotypicFeature	hp	UMLS:C0235857		Decreased tear secretion	http://purl.obolibrary.org/obo/HP_0000633	Abnormally decreased lacrimation, that is, reduced ability to produce tears.
HP:0000634	Impaired ocular abduction	biolink:PhenotypicFeature	hp	UMLS:C1846462			http://purl.obolibrary.org/obo/HP_0000634	An impaired ability of the eye to move in the outward direction (towards the side of the head).
HP:0000635	Blue irides	biolink:PhenotypicFeature	hp	SNOMEDCT_US:301952009|UMLS:C0578626		Blue eyes	http://purl.obolibrary.org/obo/HP_0000635	A markedly blue coloration of the iris.
HP:0000636	Upper eyelid coloboma	biolink:PhenotypicFeature	hp	UMLS:C1863872		Cleft upper eyelid|Notched upper eyelid|Coloboma of the upper eyelid|Full thickness defect of the upper eyelid|Upper eyelid colobomas	http://purl.obolibrary.org/obo/HP_0000636	A short discontinuity of the margin of the upper eyelid.
HP:0000637	Long palpebral fissure	biolink:PhenotypicFeature	hp	UMLS:C1849340	hposlim_core	Broad opening between the eyelids|Long opening between the eyelids|Wide opening between the eyelids|Broad palpebral fissure|Long palpebral fissures|Wide palpebral fissure|Wide palpebral fissures	http://purl.obolibrary.org/obo/HP_0000637	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	biolink:PhenotypicFeature	hp	MSH:D009759|SNOMEDCT_US:563001|UMLS:C0028738	hposlim_core	Involuntary, rapid, rhythmic eye movements	http://purl.obolibrary.org/obo/HP_0000639	Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
HP:0000640	Gaze-evoked nystagmus	biolink:PhenotypicFeature	hp	MSH:D009760|SNOMEDCT_US:29356006|UMLS:C0271390			http://purl.obolibrary.org/obo/HP_0000640	Nystagmus made apparent by looking to the right or to the left.
HP:0000641	Dysmetric saccades	biolink:PhenotypicFeature	hp	UMLS:C1836392	hposlim_core	Uncoordinated eye movement|Dysmetric eye movements|Dysmetric eye saccades	http://purl.obolibrary.org/obo/HP_0000641	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	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016|UMLS:C1970168		Red green color blindness|Dyschromatopsia with red-green confusion|Red/green color vision defect	http://purl.obolibrary.org/obo/HP_0000642	Difficulty with discriminating red and green hues.
HP:0000643	Blepharospasm	biolink:PhenotypicFeature	hp	MSH:D001764|SNOMEDCT_US:59026006|UMLS:C0005747		Eyelid spasm|Eyelid twitching|Involuntary closure of eyelid|Spontaneous closure of eyelid	http://purl.obolibrary.org/obo/HP_0000643	A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
HP:0000646	Amblyopia	biolink:PhenotypicFeature	hp	MSH:D000550|SNOMEDCT_US:387742006|UMLS:C0002418	hposlim_core	Lazy eye|Wandering eye|Wandering eyes	http://purl.obolibrary.org/obo/HP_0000646	Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
HP:0000647	Sclerocornea	biolink:PhenotypicFeature	hp	MSH:C565209|UMLS:C1853235	hposlim_core	Hardening of skin and connective tissue	http://purl.obolibrary.org/obo/HP_0000647	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	biolink:PhenotypicFeature	hp	MSH:D009896|SNOMEDCT_US:76976005|UMLS:C0029124	hposlim_core	Optic nerve atrophy|Optic-nerve degeneration	http://purl.obolibrary.org/obo/HP_0000648	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102968003|UMLS:C0522214	hposlim_core	Abnormal vision evoked potentials|Abnormal visual evoked potential|Abnormal visual evoked responses|Abnormal visual-evoked potentials|VEP abnormalities	http://purl.obolibrary.org/obo/HP_0000649	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	biolink:PhenotypicFeature	hp	UMLS:C4025834			http://purl.obolibrary.org/obo/HP_0000650	
HP:0000651	Diplopia	biolink:PhenotypicFeature	hp	MSH:D004172|SNOMEDCT_US:24982008|UMLS:C0012569	hposlim_core	Double vision	http://purl.obolibrary.org/obo/HP_0000651	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	biolink:PhenotypicFeature	hp	UMLS:C1837826		Cleft lower eyelid|Notched lower eyelid|Coloboma of lower eyelid|Full thickness defect of the lower eyelid|Lower lid coloboma	http://purl.obolibrary.org/obo/HP_0000652	A short discontinuity of the margin of the lower eyelid.
HP:0000653	Sparse eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1843300	hposlim_core	Scant eyelashes|Scanty eyelashes|Sparse eyelashes|Thin eyelashes|Hypotrichosis of eyelashes|Partial absence of eyelashes	http://purl.obolibrary.org/obo/HP_0000653	Decreased density/number of eyelashes.
HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	biolink:PhenotypicFeature	hp	UMLS:C1839025		Decreased ERG amplitude|Decreased amplitudes on flash visual electroretinogram|Decreased electroretinogram|Decreased electroretinogram amplitude|Decreased electroretinogram response|Flattened or absent electroretinogram|Reduced ERG|Reduced electroretinogram|Reduced or abolished electroretinogram	http://purl.obolibrary.org/obo/HP_0000654	Descreased amplitude of eletrical response upon electroretinography.
HP:0000655	obsolete Vitreoretinal degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000655	
HP:0000656	Ectropion	biolink:PhenotypicFeature	hp	MSH:D004483|SNOMEDCT_US:127559009|SNOMEDCT_US:62909004|UMLS:C0013592	hposlim_core	Eyelid folded out|Eyelid turned out|Everted eyelid	http://purl.obolibrary.org/obo/HP_0000656	An outward turning (eversion) or rotation of the eyelid margin.
HP:0000657	Oculomotor apraxia	biolink:PhenotypicFeature	hp	MSH:C537423|SNOMEDCT_US:193662007|UMLS:C3489733|UMLS:C4020886	hposlim_core	Ocular motor apraxia|Defective or absent horizontal voluntary eye movements	http://purl.obolibrary.org/obo/HP_0000657	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:423142006|UMLS:C1142448		Difficulty opening the eyelids	http://purl.obolibrary.org/obo/HP_0000658	
HP:0000659	Peters anomaly	biolink:PhenotypicFeature	hp	MSH:C537884|SNOMEDCT_US:204153003|UMLS:C0344559	hposlim_core		http://purl.obolibrary.org/obo/HP_0000659	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95692001|UMLS:C0339477			http://purl.obolibrary.org/obo/HP_0000660	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	biolink:PhenotypicFeature	hp	UMLS:C1846465			http://purl.obolibrary.org/obo/HP_0000661	
HP:0000662	Nyctalopia	biolink:PhenotypicFeature	hp	MSH:D009755|SNOMEDCT_US:65194006|UMLS:C0028077|UMLS:C4020885	hposlim_core	Night blindness|Night-blindness|Poor night vision|Difficulties with night vision	http://purl.obolibrary.org/obo/HP_0000662	Inability to see well at night or in poor light.
HP:0000664	Synophrys	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253207002|UMLS:C0431447	hposlim_core	Monobrow|Unibrow|Synophris	http://purl.obolibrary.org/obo/HP_0000664	Meeting of the medial eyebrows in the midline.
HP:0000666	Horizontal nystagmus	biolink:PhenotypicFeature	hp	MSH:D009759|SNOMEDCT_US:81756001|UMLS:C0271385	hposlim_core	Nystagmus, horizontal	http://purl.obolibrary.org/obo/HP_0000666	Nystagmus consisting of horizontal to-and-fro eye movements.
HP:0000667	Phthisis bulbi	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4229009|UMLS:C0271007	hposlim_core		http://purl.obolibrary.org/obo/HP_0000667	Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
HP:0000668	Hypodontia	biolink:PhenotypicFeature	hp	MSH:D000848|SNOMEDCT_US:64969001|UMLS:C0020608	hposlim_core	Failure of development of between one and six teeth|Missing between one and six teeth	http://purl.obolibrary.org/obo/HP_0000668	A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
HP:0000670	Carious teeth	biolink:PhenotypicFeature	hp	MSH:D003731|SNOMEDCT_US:80967001|UMLS:C0011334|UMLS:C4280623	hposlim_core	Dental cavities|Tooth cavities|Tooth decay|Dental decay|Rotting teeth|Caries|Cariosity of teeth|Dental caries|Early dental caries|Frequent caries	http://purl.obolibrary.org/obo/HP_0000670	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	biolink:PhenotypicFeature	hp	MSH:D000848|SNOMEDCT_US:16958000|SNOMEDCT_US:26624006|UMLS:C0399352|UMLS:C4280622		Failure of development of all teeth|Missing all teeth|Total absence of all teeth|Anodontia vera|Complete agenesis of all teeth|Dental agenesis|Complete anodontia|Total anodontia	http://purl.obolibrary.org/obo/HP_0000674	The congenital absence of all teeth.
HP:0000675	Macrodontia of permanent maxillary central incisor	biolink:PhenotypicFeature	hp	UMLS:C1835095|UMLS:C4280263|UMLS:C4280620|UMLS:C4280621		Hyperplasia of permanent maxillary central incisor|Hypertrophy of permanent maxillary central incisor|Increased size of permanent maxillary central incisor|Increased size of permanent upper central incisor|Large permanent maxillary central incisor|Large permanent upper central incisor|Increased width of permanent maxillary central incisor|Increased width of permanent upper central incisor|Long maxillary central incisors|Prominent upper incisors|Prominent, protruding upper incisors	http://purl.obolibrary.org/obo/HP_0000675	Increased size of the maxillary central secondary incisor tooth.
HP:0000676	Abnormality of the incisor	biolink:PhenotypicFeature	hp	UMLS:C4025833			http://purl.obolibrary.org/obo/HP_0000676	An abnormality of the Incisor tooth.
HP:0000677	Oligodontia	biolink:PhenotypicFeature	hp	UMLS:C4082304|UMLS:C4280619		Failure of development of more than six teeth|Missing more than six teeth|Number of teeth decreased by more than six|Partial anodontia	http://purl.obolibrary.org/obo/HP_0000677	A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
HP:0000678	Dental crowding	biolink:PhenotypicFeature	hp	MSH:D008310|SNOMEDCT_US:12351004|SNOMEDCT_US:699222000|UMLS:C0040433|UMLS:C1317785|UMLS:C4280617|UMLS:C4280618	hposlim_core	Tooth size discrepancy|Crowded teeth|Dental crowding|Dental overcrowding|Overcrowding of teeth|Inadequate arch length for tooth size|Tooth mass arch size discrepancy	http://purl.obolibrary.org/obo/HP_0000678	Overlapping teeth within an alveolar ridge.
HP:0000679	Taurodontia	biolink:PhenotypicFeature	hp	MSH:C536946|SNOMEDCT_US:51744007|UMLS:C0266039|UMLS:C4280616	hposlim_core	Taurodont|Taurodontism|Large elongated pulp chamber	http://purl.obolibrary.org/obo/HP_0000679	Increased volume of dental pulp of permanent molar.
HP:0000680	Delayed eruption of primary teeth	biolink:PhenotypicFeature	hp	UMLS:C1849538		Delayed eruption of baby teeth|Delayed eruption of milk teeth|Late eruption of baby teeth|Late eruption of milk teeth|Delayed eruption of deciduous teeth|Delayed primary teeth eruption|Late eruption of primary teeth	http://purl.obolibrary.org/obo/HP_0000680	Delayed tooth eruption affecting the primary dentition.
HP:0000682	Abnormality of dental enamel	biolink:PhenotypicFeature	hp	UMLS:C4021800|UMLS:C4280262|UMLS:C4280615	hposlim_core	Abnormal tooth enamel|Enamel abnormalities|Enamel abnormality|Defective tooth enamel|Malformation of dental enamel|Malformation of tooth enamel|Dystrophic tooth enamel	http://purl.obolibrary.org/obo/HP_0000682	An abnormality of the dental enamel.
HP:0000683	Grayish enamel	biolink:PhenotypicFeature	hp	UMLS:C1854783		Gray colored tooth enamel|Grayish enamel|Greyish enamel|Gray tooth shade	http://purl.obolibrary.org/obo/HP_0000683	A grey discoloration of the dental enamel.
HP:0000684	Delayed eruption of teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5639000|UMLS:C0239174	hposlim_core	Delayed eruption|Delayed eruption of teeth|Delayed teeth eruption|Delayed tooth eruption|Eruption, delayed|Late eruption of teeth|Late tooth eruption|Delayed dental development|Delayed dental eruption	http://purl.obolibrary.org/obo/HP_0000684	Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
HP:0000685	Hypoplasia of teeth	biolink:PhenotypicFeature	hp	UMLS:C0235357|UMLS:C4280611		Decreased size of teeth|Underdevelopment of teeth|Hypoplastic teeth	http://purl.obolibrary.org/obo/HP_0000685	Developmental hypoplasia of teeth.
HP:0000687	Widely spaced teeth	biolink:PhenotypicFeature	hp	UMLS:C1844813	hposlim_core	Wide-spaced teeth|Widely spaced teeth|Widely-spaced teeth|Generalized dental spacing|Generalized spacing of teeth|Multiple diastemata	http://purl.obolibrary.org/obo/HP_0000687	Increased spaces (diastemata) between most of the teeth in the same dental arch.
HP:0000689	Dental malocclusion	biolink:PhenotypicFeature	hp	MSH:D008310|SNOMEDCT_US:47944004|SNOMEDCT_US:707598004|UMLS:C0024636|UMLS:C4280613|UMLS:C4280614		Bad bite|Malalignment of upper and lower dental arches|Misalignment of upper and lower dental arches|Bilateral crossbite|Bilateral crossbite malocclusion|Incorrect relation between upper and lower dental arches|Malocclusion|Malocclusion of teeth|Angle class 2 malocclusion|Angle class 3 malocclusion	http://purl.obolibrary.org/obo/HP_0000689	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	biolink:PhenotypicFeature	hp	UMLS:C1849950|UMLS:C4083046		Absence of upper lateral incisor|Missing upper lateral incisor|Absent upper lateral incisors|Failure of development of maxillary lateral incisor|Absence of maxillary lateral incisor|Missing maxillary lateral incisor	http://purl.obolibrary.org/obo/HP_0000690	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.
HP:0000691	Microdontia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:32337007|UMLS:C0240340|UMLS:C4280611|UMLS:C4280612	hposlim_core	Decreased size of tooth|Small tooth|Decreased width of tooth|Hypotrophic tooth|Small teeth	http://purl.obolibrary.org/obo/HP_0000691	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	Misalignment of teeth	biolink:PhenotypicFeature	hp	UMLS:C1852504|UMLS:C4280610		Abnormality of position of teeth|Abnormal dental position|Abnormal teeth spacing|Abnormality of alignment of teeth|Abnormality of teeth spacing|Crooked teeth|Malaligned teeth|Malposition of teeth|Malpositioned teeth|Misalignment of teeth	http://purl.obolibrary.org/obo/HP_0000692	Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.
HP:0000694	Shell teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:67504007|UMLS:C2981132		Teeth with dentinal dysplasia|Teeth with thin dentin and large pulp chambers|Teeth with type iii dentinogenesis imperfecta	http://purl.obolibrary.org/obo/HP_0000694	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	biolink:PhenotypicFeature	hp	MSH:D009306|SNOMEDCT_US:21995002|SNOMEDCT_US:58748004|UMLS:C0027443	hposlim_core	Born with teeth|Teeth present at birth|Natal teeth|Neonatal teeth	http://purl.obolibrary.org/obo/HP_0000695	Erupted tooth or teeth at birth.
HP:0000696	Delayed eruption of permanent teeth	biolink:PhenotypicFeature	hp	UMLS:C1849540		Delayed eruption of adult teeth|Delayed eruption of permanent teeth|Delayed eruption of secondary dentition|Delayed eruption of secondary teeth|Delayed permanent dentition	http://purl.obolibrary.org/obo/HP_0000696	Delayed tooth eruption affecting the secondary dentition.
HP:0000698	Conical tooth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:29553002|UMLS:C0266037|UMLS:C4012359	hposlim_core	Cone shaped tooth|Shark tooth|Peg shaped tooth|Pointed tooth|Conoid tooth|Peg shaped teeth|Peg tooth|Peg-shaped teeth|Conical teeth	http://purl.obolibrary.org/obo/HP_0000698	An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
HP:0000699	Diastema	biolink:PhenotypicFeature	hp	MSH:D003970|SNOMEDCT_US:35591002|UMLS:C0011998	hposlim_core	Gaps between teeth|Gap between teeth|Dental diastasis|Dental diastema|Diastasis of the teeth|Diastema of the teeth	http://purl.obolibrary.org/obo/HP_0000699	Increased space between two adjacent teeth in the same dental arch.
HP:0000700	Periapical bone loss	biolink:PhenotypicFeature	hp	MSH:D010484|MSH:D011842|SNOMEDCT_US:81407003|SNOMEDCT_US:89988002|UMLS:C0031029|UMLS:C0034543|UMLS:C1852169|UMLS:C4280609		Dark spot around tooth root on x-ray|Bone loss around tooth root|Periapical lesion|Periapical cyst|Periapical granuloma|Periapical radiolucencies|Periapical radiolucency	http://purl.obolibrary.org/obo/HP_0000700	Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).
HP:0000703	Dentinogenesis imperfecta	biolink:PhenotypicFeature	hp	MSH:D003811|SNOMEDCT_US:196286005|UMLS:C0011436	hposlim_core		http://purl.obolibrary.org/obo/HP_0000703	Developmental dysplasia of dentin.
HP:0000704	Periodontitis	biolink:PhenotypicFeature	hp	MSH:D005882|MSH:D010510|MSH:D010518|SNOMEDCT_US:18718003|SNOMEDCT_US:2556008|SNOMEDCT_US:41565005|UMLS:C0017563|UMLS:C0031090|UMLS:C0031099	hposlim_core	Gum disease|Periodontal disease|Pyorrhea	http://purl.obolibrary.org/obo/HP_0000704	Inflammation of the periodontium.
HP:0000705	Amelogenesis imperfecta	biolink:PhenotypicFeature	hp	MSH:D000567|SNOMEDCT_US:78494001|UMLS:C0002452	hposlim_core		http://purl.obolibrary.org/obo/HP_0000705	A developmental dysplasia of the dental enamel.
HP:0000706	Unerupted tooth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109542004|UMLS:C1290587		Failure of eruption of tooth|Unerupted tooth|Unerupted dentition|Pseudo-anodontia|Pseudoanodontia	http://purl.obolibrary.org/obo/HP_0000706	The presence of one or more embedded tooth germs which have failed to erupt.
HP:0000707	Abnormality of the nervous system	biolink:PhenotypicFeature	hp	MSH:D009421|SNOMEDCT_US:88425004|UMLS:C0497552		Brain and/or spinal cord issue|Abnormality of the nervous system|Neurologic abnormalities|Neurological abnormality	http://purl.obolibrary.org/obo/HP_0000707	An abnormality of the nervous system.
HP:0000708	Behavioral abnormality	biolink:PhenotypicFeature	hp	MSH:D000066553|MSH:D001526|SNOMEDCT_US:25786006|SNOMEDCT_US:277843001|UMLS:C0004941|UMLS:C0233514		Behavioral abnormality|Behavioral changes|Behavioral disorders|Behavioral disturbances|Behavioral problems|Behavioral/psychiatric abnormalities|Behavioural/Psychiatric abnormality|Psychiatric disorders|Psychiatric disturbances|Behavioural abnormality|Behavioral symptoms	http://purl.obolibrary.org/obo/HP_0000708	An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
HP:0000709	Psychosis	biolink:PhenotypicFeature	hp	MSH:D011618|SNOMEDCT_US:69322001|UMLS:C0033975		Psychosis	http://purl.obolibrary.org/obo/HP_0000709	A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
HP:0000710	Hyperorality	biolink:PhenotypicFeature	hp	UMLS:C1838320		Hyperoralia	http://purl.obolibrary.org/obo/HP_0000710	A tendency or compulsion to examine objects by mouth.
HP:0000711	Restlessness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:162221009|UMLS:C3887611		Restlessness	http://purl.obolibrary.org/obo/HP_0000711	A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.
HP:0000712	Emotional lability	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18963009|UMLS:C0085633		Emotional instability	http://purl.obolibrary.org/obo/HP_0000712	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24199005|UMLS:C0085631			http://purl.obolibrary.org/obo/HP_0000713	A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.
HP:0000716	Depressivity	biolink:PhenotypicFeature	hp	MSH:D003866|SNOMEDCT_US:21061000119107|SNOMEDCT_US:35489007|SNOMEDCT_US:78667006|UMLS:C0011581		Depression|Depressive disorder	http://purl.obolibrary.org/obo/HP_0000716	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	biolink:PhenotypicFeature	hp	MSH:D001321|SNOMEDCT_US:408856003|SNOMEDCT_US:408857007|SNOMEDCT_US:43614003|UMLS:C0004352		Autism	http://purl.obolibrary.org/obo/HP_0000717	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	biolink:PhenotypicFeature	hp	MSH:D000374|SNOMEDCT_US:248004009|SNOMEDCT_US:61372001|UMLS:C0001807|UMLS:C0424323|UMLS:C1457883		Aggression|Aggressive behavior|Aggressive behaviour|Aggressiveness|physical aggression	http://purl.obolibrary.org/obo/HP_0000718	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:112082005|UMLS:C0233522		Inappropriate behavior|Inappropriate behaviour	http://purl.obolibrary.org/obo/HP_0000719	
HP:0000720	Mood swings	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18963009|UMLS:C0085633		Mood swings	http://purl.obolibrary.org/obo/HP_0000720	An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.
HP:0000721	Lack of spontaneous play	biolink:PhenotypicFeature	hp	UMLS:C1837650		Lack of spontaneous play	http://purl.obolibrary.org/obo/HP_0000721	
HP:0000722	Obsessive-compulsive behavior	biolink:PhenotypicFeature	hp	MSH:D003192|MSH:D009771|SNOMEDCT_US:12479006|SNOMEDCT_US:191736004|UMLS:C0028768|UMLS:C0600104		Obsessive compulsive behavior|Obsessive-compulsive behavior|Obsessive-compulsive behaviour|OCD|Obsessive compulsive disorder|Obsessive-compulsive disorder	http://purl.obolibrary.org/obo/HP_0000722	Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
HP:0000723	Restrictive behavior	biolink:PhenotypicFeature	hp	UMLS:C2675334|UMLS:C4021799		Restricted behavior|Restrictive behaviour|Restrictive behavior, interests, and activities	http://purl.obolibrary.org/obo/HP_0000723	Behavior characterized by an abnormal limitation to few interests and activities.
HP:0000725	Psychotic episodes	biolink:PhenotypicFeature	hp	UMLS:C0338614		Psychotic episodes	http://purl.obolibrary.org/obo/HP_0000725	
HP:0000726	Dementia	biolink:PhenotypicFeature	hp	MSH:D003704|SNOMEDCT_US:52448006|UMLS:C0497327		Dementia|Dementia, progressive|Progressive dementia	http://purl.obolibrary.org/obo/HP_0000726	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:278857002|UMLS:C0338455			http://purl.obolibrary.org/obo/HP_0000727	
HP:0000728	Impaired ability to form peer relationships	biolink:PhenotypicFeature	hp	UMLS:C1837649			http://purl.obolibrary.org/obo/HP_0000728	
HP:0000729	Autistic behavior	biolink:PhenotypicFeature	hp	MSH:D000067877|UMLS:C0856975|UMLS:C1510586		ASD|Autistic behaviour|Autism spectrum disorder|Autism spectrum disorders|Pervasive developmental disorder|Autistic behaviors	http://purl.obolibrary.org/obo/HP_0000729	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	biolink:PhenotypicFeature	hp	UMLS:C1837653			http://purl.obolibrary.org/obo/HP_0000732	
HP:0000733	Stereotypy	biolink:PhenotypicFeature	hp	MSH:D013239|MSH:D019956|SNOMEDCT_US:5507002|SNOMEDCT_US:84328007|UMLS:C0038271|UMLS:C0038273		Repetitive movements|Repetitive or self-injurious behavior|Stereotyped behavior|Stereotyped, repetitive behaviour|Stereotypic behavior|Stereotypic behaviors|Stereotypical motor behaviors|Sterotyped behavior|Stereotyped behaviors	http://purl.obolibrary.org/obo/HP_0000733	A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
HP:0000734	Disinhibition	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247977003|UMLS:C0424296		Disinhibition	http://purl.obolibrary.org/obo/HP_0000734	A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
HP:0000735	Impaired social interactions	biolink:PhenotypicFeature	hp	MSH:D000067404|SNOMEDCT_US:88598008|UMLS:C0150080		Impaired social interaction|Impaired social interactions|Poor social interactions	http://purl.obolibrary.org/obo/HP_0000735	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247762003|UMLS:C0262630		Easily distracted|Poor attention span|Problem paying attention|Short attention span	http://purl.obolibrary.org/obo/HP_0000736	Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
HP:0000737	Irritability	biolink:PhenotypicFeature	hp	UMLS:C2700617		Irritability|Irritable	http://purl.obolibrary.org/obo/HP_0000737	
HP:0000738	Hallucinations	biolink:PhenotypicFeature	hp	MSH:D006212|SNOMEDCT_US:7011001|UMLS:C0018524|UMLS:C0235153		Hallucination|Hallucinations|Sensory hallucination	http://purl.obolibrary.org/obo/HP_0000738	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	biolink:PhenotypicFeature	hp	MSH:D001007|SNOMEDCT_US:48694002|UMLS:C0003467|UMLS:C4020884		Anxiety|Excessive, persistent worry and fear|Anxiety disease|Anxiousness	http://purl.obolibrary.org/obo/HP_0000739	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	biolink:PhenotypicFeature	hp	UMLS:C1854339			http://purl.obolibrary.org/obo/HP_0000740	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	biolink:PhenotypicFeature	hp	MSH:D057565|SNOMEDCT_US:20602000|UMLS:C0085632		Lack of feeling, emotion, interest	http://purl.obolibrary.org/obo/HP_0000741	
HP:0000742	Self-mutilation	biolink:PhenotypicFeature	hp	MSH:D012652|SNOMEDCT_US:130968006|UMLS:C0036601		Deliberate self-harm|Self mutilation|Self-mutilation	http://purl.obolibrary.org/obo/HP_0000742	
HP:0000743	Frontal release signs	biolink:PhenotypicFeature	hp	UMLS:C1833297		Frontal release reflexes	http://purl.obolibrary.org/obo/HP_0000743	Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.
HP:0000744	Low frustration tolerance	biolink:PhenotypicFeature	hp	UMLS:C0548883			http://purl.obolibrary.org/obo/HP_0000744	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:277521002|UMLS:C0456814		Diminished motivation|Lack of initiative|Lack of motivation|Lacking in initiative|Lacks initiative	http://purl.obolibrary.org/obo/HP_0000745	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	biolink:PhenotypicFeature	hp	MSH:D003702|SNOMEDCT_US:2073000|UMLS:C0011253		Delusions	http://purl.obolibrary.org/obo/HP_0000746	A belief that is pathological and is held despite evidence to the contrary.
HP:0000748	Inappropriate laughter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247985007|UMLS:C0424304		Inappropriate laughter	http://purl.obolibrary.org/obo/HP_0000748	
HP:0000749	Paroxysmal bursts of laughter	biolink:PhenotypicFeature	hp	UMLS:C1839749		Paroxysmal laughter	http://purl.obolibrary.org/obo/HP_0000749	
HP:0000750	Delayed speech and language development	biolink:PhenotypicFeature	hp	MSH:D007805|SNOMEDCT_US:162294008|SNOMEDCT_US:229721007|SNOMEDCT_US:29164008|SNOMEDCT_US:62415009|UMLS:C0023012|UMLS:C0233715|UMLS:C0241210|UMLS:C0454644		Deficiency of speech development|Delayed language development|Delayed speech|Delayed speech acquisition|Delayed speech and language development|Delayed speech development|Impaired speech and language development|Impaired speech development|Language delay|Language delayed|Language development deficit|Late-onset speech development|Poor language development|Speech and language delay|Speech and language difficulties|Speech delay|Poor speech acquisition|Poor speech development|Speech difficulties	http://purl.obolibrary.org/obo/HP_0000750	A degree of language development that is significantly below the norm for a child of a specified age.
HP:0000751	Personality changes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102943000|SNOMEDCT_US:192073007|UMLS:C0240735		Personality change|Personality changes	http://purl.obolibrary.org/obo/HP_0000751	An abnormal shift in patterns of thinking, acting, or feeling.
HP:0000752	Hyperactivity	biolink:PhenotypicFeature	hp	MSH:D006948|SNOMEDCT_US:44548000|UMLS:C0424295		More active than typical|Hyperactive behavior	http://purl.obolibrary.org/obo/HP_0000752	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	biolink:PhenotypicFeature	hp	UMLS:C4025832			http://purl.obolibrary.org/obo/HP_0000753	
HP:0000756	Agoraphobia	biolink:PhenotypicFeature	hp	MSH:D000379|SNOMEDCT_US:247830007|SNOMEDCT_US:70691001|UMLS:C0001818		Fear of open spaces	http://purl.obolibrary.org/obo/HP_0000756	A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.
HP:0000757	Lack of insight	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24340004|UMLS:C0233824		Lack of insight	http://purl.obolibrary.org/obo/HP_0000757	
HP:0000758	Impaired use of nonverbal behaviors	biolink:PhenotypicFeature	hp	UMLS:C4021798		Impaired use of nonverbal behaviors|Impaired use of nonverbal behaviours	http://purl.obolibrary.org/obo/HP_0000758	Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.
HP:0000759	Abnormal peripheral nervous system morphology	biolink:PhenotypicFeature	hp	MSH:D010523|SNOMEDCT_US:302226006|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C4025831		Abnormal peripheral nervous system structure|Peripheral nervous system disease	http://purl.obolibrary.org/obo/HP_0000759	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	biolink:PhenotypicFeature	hp	UMLS:C1857640		Decreased NCV|Decreased nerve conduction velocities|Delayed nerve conduction velocity|Reduced nerve conduction velocities|Slow nerve conduction velocity|Slowed nerve conduction velocities	http://purl.obolibrary.org/obo/HP_0000762	A reduction in the speed at which electrical signals propagate along the axon of a neuron.
HP:0000763	Sensory neuropathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95662005|UMLS:C0151313		Damage to nerves that sense feeling|Peripheral sensory neuropathy	http://purl.obolibrary.org/obo/HP_0000763	Peripheral neuropathy affecting the sensory nerves.
HP:0000764	Peripheral axonal degeneration	biolink:PhenotypicFeature	hp	UMLS:C4025830			http://purl.obolibrary.org/obo/HP_0000764	Progressive deterioration of peripheral axons.
HP:0000765	Abnormal thorax morphology	biolink:PhenotypicFeature	hp	UMLS:C4021797		Abnormality of the chest|Abnormality of the thorax|Structural abnormality of the chest wall	http://purl.obolibrary.org/obo/HP_0000765	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	biolink:PhenotypicFeature	hp	UMLS:C1860493	hposlim_core	Abnormality of the sternum|Sternal anomalies|Pectus carinatum or pectus excavatum|Pectus deformities|Pectus deformity|Pectus excavatum or carinatum|Pectus excavatum or pectus carinatum|Pectus excavatum/carinatum	http://purl.obolibrary.org/obo/HP_0000766	An anomaly of the sternum, also known as the breastbone.
HP:0000767	Pectus excavatum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:391987005|UMLS:C2051831	hposlim_core	Funnel chest	http://purl.obolibrary.org/obo/HP_0000767	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	biolink:PhenotypicFeature	hp	MSH:D066166|SNOMEDCT_US:205101001|UMLS:C0158731	hposlim_core	Pigeon chest	http://purl.obolibrary.org/obo/HP_0000768	A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
HP:0000769	Abnormality of the breast	biolink:PhenotypicFeature	hp	UMLS:C4025829	hposlim_core	Abnormality of the breast	http://purl.obolibrary.org/obo/HP_0000769	An abnormality of the breast.
HP:0000771	Gynecomastia	biolink:PhenotypicFeature	hp	MSH:D006177|SNOMEDCT_US:4754008|UMLS:C0018418	hposlim_core	Enlarged male breast|Gynaecomastia	http://purl.obolibrary.org/obo/HP_0000771	Abnormal development of large mammary glands in males resulting in breast enlargement.
HP:0000772	Abnormality of the ribs	biolink:PhenotypicFeature	hp	UMLS:C1842083	hposlim_core	Abnormality of the ribs|Rib abnormalities|Rib anomalies	http://purl.obolibrary.org/obo/HP_0000772	An anomaly of the rib.
HP:0000773	Short ribs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249696007|UMLS:C0426817		Short ribs|Hypoplastic ribs|Rib hypoplasia	http://purl.obolibrary.org/obo/HP_0000773	Reduced rib length.
HP:0000774	Narrow chest	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249671009|UMLS:C0426790		Low chest circumference|Narrow chest|Narrow shoulders|Narrow thorax|Reduced anterior-posterior chest diameter	http://purl.obolibrary.org/obo/HP_0000774	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	biolink:PhenotypicFeature	hp	UMLS:C1848873		Abnormality of the diaphragm|Diaphragm issues|Diaphragmatic defect	http://purl.obolibrary.org/obo/HP_0000775	Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
HP:0000776	Congenital diaphragmatic hernia	biolink:PhenotypicFeature	hp	MSH:D065630|SNOMEDCT_US:17190001|UMLS:C0235833		Diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0000776	The presence of a hernia of the diaphragm present at birth.
HP:0000777	Abnormality of the thymus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93297002|UMLS:C0262650|UMLS:C0685891		Abnormality of the thymus	http://purl.obolibrary.org/obo/HP_0000777	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93297002|UMLS:C0685891|UMLS:C4228227		Small thymus|Thymic hypoplasia|Thymus hypoplasia	http://purl.obolibrary.org/obo/HP_0000778	Underdevelopment of the thymus.
HP:0000782	Abnormal scapula morphology	biolink:PhenotypicFeature	hp	UMLS:C4025828	hposlim_core	Abnormality of the shoulder blade	http://purl.obolibrary.org/obo/HP_0000782	Any abnormality of the scapula, also known as the shoulder blade.
HP:0000786	Primary amenorrhea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8913004|UMLS:C0232939			http://purl.obolibrary.org/obo/HP_0000786	
HP:0000787	Nephrolithiasis	biolink:PhenotypicFeature	hp	MSH:D053040|UMLS:C0392525		Kidney stones|Renal calculi|Renal stones	http://purl.obolibrary.org/obo/HP_0000787	The presence of calculi (stones) in the kidneys.
HP:0000789	Infertility	biolink:PhenotypicFeature	hp	MSH:D007246|SNOMEDCT_US:15296000|SNOMEDCT_US:8619003|UMLS:C0021359		Infertility	http://purl.obolibrary.org/obo/HP_0000789	
HP:0000790	Hematuria	biolink:PhenotypicFeature	hp	MSH:D006417|SNOMEDCT_US:34436003|SNOMEDCT_US:53298000|UMLS:C0018965		High urine occult blood|Blood in urine	http://purl.obolibrary.org/obo/HP_0000790	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:267441009|UMLS:C0403719		Uric acid stones|Uric acid urolithiasis	http://purl.obolibrary.org/obo/HP_0000791	The presence of uric acid-containing calculi (stones) in the kidneys.
HP:0000793	Membranoproliferative glomerulonephritis	biolink:PhenotypicFeature	hp	MSH:D015432|SNOMEDCT_US:80321008|UMLS:C0017662		MPGN|Mesangiocapillary glomerulonephritis	http://purl.obolibrary.org/obo/HP_0000793	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	biolink:PhenotypicFeature	hp	MSH:D005922|SNOMEDCT_US:236407003|SNOMEDCT_US:68779003|UMLS:C0017661|UMLS:C4025827		IgA nephropathy	http://purl.obolibrary.org/obo/HP_0000794	The presence of immunoglobulin A deposits in the glomerulus.
HP:0000795	Abnormality of the urethra	biolink:PhenotypicFeature	hp	UMLS:C4025826		Urethra issue	http://purl.obolibrary.org/obo/HP_0000795	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	biolink:PhenotypicFeature	hp	MSH:D014524|SNOMEDCT_US:95588004|UMLS:C0041972			http://purl.obolibrary.org/obo/HP_0000796	Obstruction of the flow of urine through the urethra.
HP:0000798	Oligospermia	biolink:PhenotypicFeature	hp	MSH:D009845|UMLS:C0028960		Low sperm count	http://purl.obolibrary.org/obo/HP_0000798	Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
HP:0000799	Renal steatosis	biolink:PhenotypicFeature	hp	UMLS:C4021796		Fatty kidney	http://purl.obolibrary.org/obo/HP_0000799	Abnormal fat accumulation in the kidneys.
HP:0000800	Cystic renal dysplasia	biolink:PhenotypicFeature	hp	UMLS:C1834931		Bilateral cystic dysplasia|Renal cystic dysplasia|Renal dysplasia, cystic	http://purl.obolibrary.org/obo/HP_0000800	
HP:0000802	Impotence	biolink:PhenotypicFeature	hp	MSH:D007172|SNOMEDCT_US:397803000|UMLS:C0242350		Difficulty getting a full erection|Difficulty getting an erection	http://purl.obolibrary.org/obo/HP_0000802	Inability to develop or maintain an erection of the penis.
HP:0000803	Renal cortical cysts	biolink:PhenotypicFeature	hp	UMLS:C1969144		Cortical cysts	http://purl.obolibrary.org/obo/HP_0000803	Cysts of the cortex of the kidney.
HP:0000804	Xanthine nephrolithiasis	biolink:PhenotypicFeature	hp	UMLS:C1848431		Urinary xanthine stones|Xanthine stones	http://purl.obolibrary.org/obo/HP_0000804	The presence of xanthine-containing calculi (stones) in the kidneys.
HP:0000805	Enuresis	biolink:PhenotypicFeature	hp	MSH:D004775|SNOMEDCT_US:8009008|UMLS:C0014394			http://purl.obolibrary.org/obo/HP_0000805	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204891000|SNOMEDCT_US:429631000124104|UMLS:C0452168			http://purl.obolibrary.org/obo/HP_0000807	
HP:0000808	Penoscrotal hypospadias	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204889008|UMLS:C0452147			http://purl.obolibrary.org/obo/HP_0000808	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	biolink:PhenotypicFeature	hp	UMLS:C1389003			http://purl.obolibrary.org/obo/HP_0000809	Congenital absence of the normal opening of a structure of the urinary tract.
HP:0000811	Abnormal external genitalia	biolink:PhenotypicFeature	hp	UMLS:C4025825		Abnormal external genitalia	http://purl.obolibrary.org/obo/HP_0000811	
HP:0000812	Abnormal internal genitalia	biolink:PhenotypicFeature	hp	UMLS:C4025824		Abnormal internal genitalia	http://purl.obolibrary.org/obo/HP_0000812	An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
HP:0000813	Bicornuate uterus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:31401003|UMLS:C0266387		Heart shaped uterus|Heart-shaped uterus|Uterus bicornis	http://purl.obolibrary.org/obo/HP_0000813	The presence of a bicornuate uterus.
HP:0000815	Hypergonadotropic hypogonadism	biolink:PhenotypicFeature	hp	MSH:D007006|SNOMEDCT_US:370999003|UMLS:C0948896		Hypergonadotrophic hypogonadism|Primary hypogonadism	http://purl.obolibrary.org/obo/HP_0000815	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	biolink:PhenotypicFeature	hp	UMLS:C4021795		Abnormality of citric acid cycle|Abnormality of the tricarboxylic cycle	http://purl.obolibrary.org/obo/HP_0000816	An abnormality of the tricarboxylic acid cycle.
HP:0000817	Poor eye contact	biolink:PhenotypicFeature	hp	SNOMEDCT_US:412786000|UMLS:C1445953		Poor eye contact	http://purl.obolibrary.org/obo/HP_0000817	Difficulty in looking at another person in the eye.
HP:0000818	Abnormality of the endocrine system	biolink:PhenotypicFeature	hp	MSH:D004700|SNOMEDCT_US:362969004|UMLS:C0014130|UMLS:C4025823		Endocrine system disease	http://purl.obolibrary.org/obo/HP_0000818	An abnormality of the endocrine system.
HP:0000819	Diabetes mellitus	biolink:PhenotypicFeature	hp	MSH:D003920|SNOMEDCT_US:73211009|UMLS:C0011849			http://purl.obolibrary.org/obo/HP_0000819	A group of abnormalities characterized by hyperglycemia and glucose intolerance.
HP:0000820	Abnormality of the thyroid gland	biolink:PhenotypicFeature	hp	MSH:D013959|SNOMEDCT_US:14304000|UMLS:C0040128		Abnormality of the thyroid gland|Thyroid abnormality|Thyroid disease	http://purl.obolibrary.org/obo/HP_0000820	An abnormality of the thyroid gland.
HP:0000821	Hypothyroidism	biolink:PhenotypicFeature	hp	MSH:D007037|SNOMEDCT_US:40930008|UMLS:C0020676		Underactive thyroid|Low T4	http://purl.obolibrary.org/obo/HP_0000821	Deficiency of thyroid hormone.
HP:0000822	Hypertension	biolink:PhenotypicFeature	hp	MSH:D006973|SNOMEDCT_US:24184005|SNOMEDCT_US:38341003|UMLS:C0020538|UMLS:C0497247		High blood pressure|Arterial hypertension|Systemic hypertension	http://purl.obolibrary.org/obo/HP_0000822	The presence of chronic increased pressure in the systemic arterial system.
HP:0000823	Delayed puberty	biolink:PhenotypicFeature	hp	MSH:D011628|SNOMEDCT_US:123526007|SNOMEDCT_US:400003000|UMLS:C0034012		Delayed pubertal development|Delayed pubertal growth|Delayed puberty|Pubertal delay	http://purl.obolibrary.org/obo/HP_0000823	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 stimuation test	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2109003|UMLS:C3714796		Growth hormone deficiency|Somatotropin deficiency	http://purl.obolibrary.org/obo/HP_0000824	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	biolink:PhenotypicFeature	hp	UMLS:C1864903		Hyperinsulinaemic hypoglycaemia|Hyperinsulinemia hypoglycemia	http://purl.obolibrary.org/obo/HP_0000825	An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
HP:0000826	Precocious puberty	biolink:PhenotypicFeature	hp	MSH:D011629|SNOMEDCT_US:123527003|SNOMEDCT_US:400179000|UMLS:C0034013		Early onset of puberty|Early puberty	http://purl.obolibrary.org/obo/HP_0000826	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	biolink:PhenotypicFeature	hp	MSH:D010279|SNOMEDCT_US:73132005|UMLS:C0030517|UMLS:C4025822		Parathyroid disease	http://purl.obolibrary.org/obo/HP_0000828	An abnormality of the parathyroid gland.
HP:0000829	Hypoparathyroidism	biolink:PhenotypicFeature	hp	MSH:D007011|SNOMEDCT_US:36976004|UMLS:C0020626		Decreased parathyroid hormone secretion|Low parathyroid hormone	http://purl.obolibrary.org/obo/HP_0000829	A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
HP:0000830	Anterior hypopituitarism	biolink:PhenotypicFeature	hp	UMLS:C4025821			http://purl.obolibrary.org/obo/HP_0000830	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	biolink:PhenotypicFeature	hp	UMLS:C0854110		Insulin resistant diabetes|Insulin-resistant diabetes|Insulin resistant diabetes mellitus	http://purl.obolibrary.org/obo/HP_0000831	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 will as in fasting and postprandial serum insulin levels.
HP:0000832	Primary hypothyroidism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111566002|UMLS:C0700502			http://purl.obolibrary.org/obo/HP_0000832	A type of hypothyroidism that results from a defect in the thyroid gland.
HP:0000833	obsolete Glucose intolerance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0000833	
HP:0000834	Abnormality of the adrenal glands	biolink:PhenotypicFeature	hp	MSH:D000307|SNOMEDCT_US:30171000|UMLS:C0001621|UMLS:C4021794		Adrenal abnormalities|Adrenal gland disease	http://purl.obolibrary.org/obo/HP_0000834	Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
HP:0000835	Adrenal hypoplasia	biolink:PhenotypicFeature	hp	MSH:C538429|SNOMEDCT_US:237774001|UMLS:C0342491|UMLS:C1846223		Small adrenal glands|Adrenal gland hypoplasia|Hypoplastic adrenal glands|Underdeveloped adrenal glands	http://purl.obolibrary.org/obo/HP_0000835	Developmental hypoplasia of the adrenal glands.
HP:0000836	Hyperthyroidism	biolink:PhenotypicFeature	hp	MSH:D006980|SNOMEDCT_US:34486009|UMLS:C0020550		Overactive thyroid	http://purl.obolibrary.org/obo/HP_0000836	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	biolink:PhenotypicFeature	hp	UMLS:C1862265		Elevated gonadotropins|Elevated serum gonadotropins|Gonadotropin excess|Increased circulating gonadotropin level	http://purl.obolibrary.org/obo/HP_0000837	Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
HP:0000839	Pituitary dwarfism	biolink:PhenotypicFeature	hp	MSH:D004393|SNOMEDCT_US:367460001|SNOMEDCT_US:7530009|UMLS:C0013338			http://purl.obolibrary.org/obo/HP_0000839	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	biolink:PhenotypicFeature	hp	MSH:D047808|SNOMEDCT_US:237751000|SNOMEDCT_US:267395000|SNOMEDCT_US:271077003|UMLS:C0302280			http://purl.obolibrary.org/obo/HP_0000840	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	biolink:PhenotypicFeature	hp	UMLS:C1846345|UMLS:C3150267		Increased plasma renin activity	http://purl.obolibrary.org/obo/HP_0000841	An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
HP:0000842	Hyperinsulinemia	biolink:PhenotypicFeature	hp	MSH:D006946|SNOMEDCT_US:83469008|UMLS:C0020459		Elevated insulin level	http://purl.obolibrary.org/obo/HP_0000842	An increased concentration of insulin in the blood.
HP:0000843	Hyperparathyroidism	biolink:PhenotypicFeature	hp	MSH:D006961|SNOMEDCT_US:66999008|UMLS:C0020502		Elevated blood parathyroid hormone level	http://purl.obolibrary.org/obo/HP_0000843	Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
HP:0000845	Growth hormone excess	biolink:PhenotypicFeature	hp	MSH:C531600|MSH:D000172|SNOMEDCT_US:74107003|UMLS:C0001206|UMLS:C0235986		Growth hormone excess|Acral hypertrophy|Acromegalic growth|Acromegaly|Somatotropin excess	http://purl.obolibrary.org/obo/HP_0000845	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	biolink:PhenotypicFeature	hp	MSH:D000309|SNOMEDCT_US:111563005|SNOMEDCT_US:237785004|SNOMEDCT_US:386584007|UMLS:C0001623		Hypoadrenalism	http://purl.obolibrary.org/obo/HP_0000846	Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
HP:0000847	Abnormality of renin-angiotensin system	biolink:PhenotypicFeature	hp	UMLS:C4021793		Abnormality of the renin-aldosterone axis	http://purl.obolibrary.org/obo/HP_0000847	An abnormality of the renin-angiotensin system.
HP:0000848	Increased circulating renin level	biolink:PhenotypicFeature	hp	UMLS:C0240783		Elevated blood renin level|Elevated plasma renin|Hyperreninemia|Increased plasma renin|Increased serum renin	http://purl.obolibrary.org/obo/HP_0000848	An increased level of renin in the blood.
HP:0000849	Adrenocortical abnormality	biolink:PhenotypicFeature	hp	UMLS:C4025820			http://purl.obolibrary.org/obo/HP_0000849	
HP:0000851	Congenital hypothyroidism	biolink:PhenotypicFeature	hp	MSH:D003409|SNOMEDCT_US:190268003|SNOMEDCT_US:217710005|UMLS:C0010308		Underactive thyroid gland from birth|Hypothyroidism, congenital	http://purl.obolibrary.org/obo/HP_0000851	A type of hypothyroidism with congenital onset.
HP:0000852	Pseudohypoparathyroidism	biolink:PhenotypicFeature	hp	MSH:D011547|SNOMEDCT_US:58976002|UMLS:C0033806			http://purl.obolibrary.org/obo/HP_0000852	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	biolink:PhenotypicFeature	hp	MSH:D006042|SNOMEDCT_US:3716002|UMLS:C0018021		Enlarged thyroid gland in neck|Goitre|Thyroid goiter	http://purl.obolibrary.org/obo/HP_0000853	An enlargement of the thyroid gland.
HP:0000854	Thyroid adenoma	biolink:PhenotypicFeature	hp	MSH:D013964|NCIT:C2855|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|UMLS:C0151468			http://purl.obolibrary.org/obo/HP_0000854	The presence of a adenoma of the thyroid gland.
HP:0000855	Insulin resistance	biolink:PhenotypicFeature	hp	MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655		Body fails to respond to insulin	http://purl.obolibrary.org/obo/HP_0000855	Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
HP:0000857	Neonatal insulin-dependent diabetes mellitus	biolink:PhenotypicFeature	hp	UMLS:C3278636			http://purl.obolibrary.org/obo/HP_0000857	
HP:0000858	Irregular menstruation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:80182007|UMLS:C0156404		Menstrual irregularity|Irregular menses|Menstrual irregularities	http://purl.obolibrary.org/obo/HP_0000858	Abnormally high variation in the amount of time between periods.
HP:0000859	Hyperaldosteronism	biolink:PhenotypicFeature	hp	MSH:D006929|SNOMEDCT_US:88213004|UMLS:C0020428		Elevated plasma aldosterone|Increased aldosterone|Increased aldosterone production|Mineralocorticoid excess	http://purl.obolibrary.org/obo/HP_0000859	Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
HP:0000860	Parathyroid hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1389851		Small parathyroid glands|Underdeveloped parathyroid glands	http://purl.obolibrary.org/obo/HP_0000860	Developmental hypoplasia of the parathyroid gland.
HP:0000863	Central diabetes insipidus	biolink:PhenotypicFeature	hp	MSH:D020790|SNOMEDCT_US:45369008|UMLS:C0687720		Neurohypophyseal diabetes insipidus	http://purl.obolibrary.org/obo/HP_0000863	A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.
HP:0000864	Abnormality of the hypothalamus-pituitary axis	biolink:PhenotypicFeature	hp	UMLS:C4025819			http://purl.obolibrary.org/obo/HP_0000864	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	biolink:PhenotypicFeature	hp	UMLS:C1846034		Euthyroid multinodular goitre	http://purl.obolibrary.org/obo/HP_0000866	
HP:0000867	Secondary hyperparathyroidism	biolink:PhenotypicFeature	hp	MSH:D006962|SNOMEDCT_US:91478007|UMLS:C0020503			http://purl.obolibrary.org/obo/HP_0000867	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	biolink:PhenotypicFeature	hp	UMLS:C0151639		Decreased fertility in females|Reduced fertility in females	http://purl.obolibrary.org/obo/HP_0000868	
HP:0000869	Secondary amenorrhea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86030004|UMLS:C0232940		Previous menstrual periods stop	http://purl.obolibrary.org/obo/HP_0000869	
HP:0000870	Increased circulating prolactin concentration	biolink:PhenotypicFeature	hp	MSH:D006966|SNOMEDCT_US:237662005|UMLS:C0020514		Hyperprolactinaemia|Hyperprolactinemia|Prolactin excess	http://purl.obolibrary.org/obo/HP_0000870	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	biolink:PhenotypicFeature	hp	MSH:C580003|SNOMEDCT_US:32390006|UMLS:C0242343			http://purl.obolibrary.org/obo/HP_0000871	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	biolink:PhenotypicFeature	hp	MSH:D050031|SNOMEDCT_US:21983002|UMLS:C0677607		Chronic lymphocytic thyroiditis|Hashimoto's thyroiditis	http://purl.obolibrary.org/obo/HP_0000872	A chronic, autoimmune type of thyroiditis associated with hypothyroidism.
HP:0000873	Diabetes insipidus	biolink:PhenotypicFeature	hp	MSH:D003919|SNOMEDCT_US:15771004|UMLS:C0011848			http://purl.obolibrary.org/obo/HP_0000873	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	biolink:PhenotypicFeature	hp	UMLS:C1857175		Intermittent high blood pressure	http://purl.obolibrary.org/obo/HP_0000875	
HP:0000876	Oligomenorrhea	biolink:PhenotypicFeature	hp	MSH:D009839|SNOMEDCT_US:52073004|UMLS:C0028949		Light or infrequent menstrual periods	http://purl.obolibrary.org/obo/HP_0000876	Infrequent menses (less than 6 per year or more than 35 days between cycles).
HP:0000877	Insulin-resistant diabetes mellitus at puberty	biolink:PhenotypicFeature	hp	UMLS:C1837792		Insulin-resistant diabetes mellitus at puberty	http://purl.obolibrary.org/obo/HP_0000877	
HP:0000878	11 pairs of ribs	biolink:PhenotypicFeature	hp	UMLS:C1839731	hposlim_core	11 pairs of ribs	http://purl.obolibrary.org/obo/HP_0000878	Presence of only 11 pairs of ribs.
HP:0000879	Short sternum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298724002|UMLS:C0575497|UMLS:C4020883	hposlim_core	Short sternum|Hypoplastic sternum	http://purl.obolibrary.org/obo/HP_0000879	Decreased inferosuperior length of the sternum.
HP:0000882	Hypoplastic scapulae	biolink:PhenotypicFeature	hp	UMLS:C1846434	hposlim_core	Small shoulder blade|Hypoplastic scapula|Scapular hypoplasia|Short scapulae|Small scapula|Small scapulae	http://purl.obolibrary.org/obo/HP_0000882	Underdeveloped scapula.
HP:0000883	Thin ribs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249697003|UMLS:C0426818	hposlim_core	Slender ribs|Thin ribs	http://purl.obolibrary.org/obo/HP_0000883	Ribs with a reduced diameter.
HP:0000884	Prominent sternum	biolink:PhenotypicFeature	hp	UMLS:C1846433		Prominent sternum|Sternal protrusion	http://purl.obolibrary.org/obo/HP_0000884	
HP:0000885	Broad ribs	biolink:PhenotypicFeature	hp	UMLS:C1848654	hposlim_core	Broad ribs|Wide ribs	http://purl.obolibrary.org/obo/HP_0000885	Increased width of ribs
HP:0000886	Deformed rib cage	biolink:PhenotypicFeature	hp	UMLS:C1838659		Deformed rib cage	http://purl.obolibrary.org/obo/HP_0000886	Malformation of the rib cage.
HP:0000887	Cupped ribs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249704008|UMLS:C0426826|UMLS:C1865039	hposlim_core	Cupped ribs|Rib cupping|Rib flaring	http://purl.obolibrary.org/obo/HP_0000887	Wide, concave rib end.
HP:0000888	Horizontal ribs	biolink:PhenotypicFeature	hp	UMLS:C3806510		Horizontal ribs	http://purl.obolibrary.org/obo/HP_0000888	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	biolink:PhenotypicFeature	hp	UMLS:C4021792	hposlim_core	Abnormal collarbone|Abnormal clavicles|Abnormality of the clavicle	http://purl.obolibrary.org/obo/HP_0000889	Any abnormality of the clavicles (collar bones).
HP:0000890	Long clavicles	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249687007|UMLS:C0426808		Long collarbone|Elongated clavicles	http://purl.obolibrary.org/obo/HP_0000890	Increased length of the clavicles.
HP:0000891	Cervical ribs	biolink:PhenotypicFeature	hp	MSH:D057070|SNOMEDCT_US:72535009|UMLS:C0158779	hposlim_core		http://purl.obolibrary.org/obo/HP_0000891	
HP:0000892	Bifid ribs	biolink:PhenotypicFeature	hp	UMLS:C4721788		Cleft ribs|Split ribs	http://purl.obolibrary.org/obo/HP_0000892	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	biolink:PhenotypicFeature	hp	UMLS:C1848538			http://purl.obolibrary.org/obo/HP_0000893	Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.
HP:0000894	Short clavicles	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93250003|UMLS:C0426799	hposlim_core	Short collarbone|Clavicular hypoplasia|Hypoplastic clavicles|Underdeveloped clavicles	http://purl.obolibrary.org/obo/HP_0000894	Reduced length of the clavicles.
HP:0000895	Lateral clavicle hook	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249684000|UMLS:C0426805		Hook-shaped collarbone|Handlebar clavicle|Hook-shaped clavicle|Hooked clavicle	http://purl.obolibrary.org/obo/HP_0000895	An excessive upward convexity of the lateral clavicle.
HP:0000896	Rib exostoses	biolink:PhenotypicFeature	hp	UMLS:C1835579			http://purl.obolibrary.org/obo/HP_0000896	Multiple circumscribed bony excrescences located in the ribs.
HP:0000897	Rachitic rosary	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15214001|SNOMEDCT_US:249702007			http://purl.obolibrary.org/obo/HP_0000897	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249699000|UMLS:C0426820	hposlim_core		http://purl.obolibrary.org/obo/HP_0000900	Increased thickness (diameter) of ribs.
HP:0000902	Rib fusion	biolink:PhenotypicFeature	hp	UMLS:C1844749		Fused ribs|Rib fusion	http://purl.obolibrary.org/obo/HP_0000902	Complete or partial merging of adjacent ribs.
HP:0000904	Flaring of rib cage	biolink:PhenotypicFeature	hp	UMLS:C1854780		Flaring of rib cage|Anterior flaring of ribs	http://purl.obolibrary.org/obo/HP_0000904	The presence of wide, concave anterior rib ends.
HP:0000905	Progressive clavicular acroosteolysis	biolink:PhenotypicFeature	hp	UMLS:C1837757		Progressive acroosteolysis of the clavicle	http://purl.obolibrary.org/obo/HP_0000905	Progressive bone resorption in the distal part of the clavicle.
HP:0000907	Anterior rib cupping	biolink:PhenotypicFeature	hp	UMLS:C1846154		Anterior cupping of ribs|Anteriorly splayed ribs	http://purl.obolibrary.org/obo/HP_0000907	Wide, concave anterior rib end.
HP:0000910	Wide-cupped costochondral junctions	biolink:PhenotypicFeature	hp	UMLS:C1861213			http://purl.obolibrary.org/obo/HP_0000910	
HP:0000911	Flat glenoid fossa	biolink:PhenotypicFeature	hp	UMLS:C1855177			http://purl.obolibrary.org/obo/HP_0000911	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	biolink:PhenotypicFeature	hp	MEDDRA:10010455|MSH:C535802|SNOMEDCT_US:79120002|UMLS:C0152438	hposlim_core	High shoulder blade|Congenital, upward displacement of the scapula|High scapula|Sprengel deformity	http://purl.obolibrary.org/obo/HP_0000912	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	biolink:PhenotypicFeature	hp	UMLS:C1842084			http://purl.obolibrary.org/obo/HP_0000913	Complete or partial merging of the posterior part of adjacent ribs.
HP:0000914	Shield chest	biolink:PhenotypicFeature	hp	UMLS:C1834124|UMLS:C1839248		Shield chest|Broad chest	http://purl.obolibrary.org/obo/HP_0000914	A broad chest.
HP:0000915	Pectus excavatum of inferior sternum	biolink:PhenotypicFeature	hp	UMLS:C1864796		Pectus excavatum inferiorly	http://purl.obolibrary.org/obo/HP_0000915	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249680009|UMLS:C0426801	hposlim_core	Broad collarbone	http://purl.obolibrary.org/obo/HP_0000916	Increased width (cross-sectional diameter) of the clavicles.
HP:0000917	Superior pectus carinatum	biolink:PhenotypicFeature	hp	UMLS:C1864795		Pectus carinatum superiorly	http://purl.obolibrary.org/obo/HP_0000917	Pectus carinatum affecting primarily the superior part of the sternum.
HP:0000918	Scapular exostoses	biolink:PhenotypicFeature	hp	UMLS:C1851415		Scapulae exostoses|Shoulder bone exostoes	http://purl.obolibrary.org/obo/HP_0000918	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	biolink:PhenotypicFeature	hp	UMLS:C4021791		Costochondral juctions abnormal	http://purl.obolibrary.org/obo/HP_0000919	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	biolink:PhenotypicFeature	hp	UMLS:C1857180	hposlim_core	Costochondral thickening|Enlarged costochondral junctions|Prominent costochondral junction|Wide costochondral junctions|Widened costochondral junction	http://purl.obolibrary.org/obo/HP_0000920	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249695006|UMLS:C0426816	hposlim_core	Absent ribs|Decreased rib number|Missing ribs	http://purl.obolibrary.org/obo/HP_0000921	A developmental anomaly with absence of one or more ribs.
HP:0000922	Posterior rib cupping	biolink:PhenotypicFeature	hp	UMLS:C1837483		Anterior and posterior rib cupping	http://purl.obolibrary.org/obo/HP_0000922	Wide, concave posterior rib end.
HP:0000923	Beaded ribs	biolink:PhenotypicFeature	hp	UMLS:C0426824			http://purl.obolibrary.org/obo/HP_0000923	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	biolink:PhenotypicFeature	hp	UMLS:C4021790		Abnormality of the skeletal system|Skeletal abnormalities|Skeletal anomalies	http://purl.obolibrary.org/obo/HP_0000924	An abnormality of the skeletal system.
HP:0000925	Abnormality of the vertebral column	biolink:PhenotypicFeature	hp	UMLS:C4020882|UMLS:C4021789	hposlim_core	Abnormal spine|Abnormal vertebral column|Abnormality of the spine|Abnormality of the vertebral column|Abnormality of the backbone	http://purl.obolibrary.org/obo/HP_0000925	Any abnormality of the vertebral column.
HP:0000926	Platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C1844704	hposlim_core	Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies	http://purl.obolibrary.org/obo/HP_0000926	A flattened vertebral body shape with reduced distance between the vertebral endplates.
HP:0000927	Abnormality of skeletal maturation	biolink:PhenotypicFeature	hp	UMLS:C4025818		Abnormality of skeletal maturation	http://purl.obolibrary.org/obo/HP_0000927	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	biolink:PhenotypicFeature	hp	UMLS:C0235942		Abnormality of the skull|Abnormality of the skull bones	http://purl.obolibrary.org/obo/HP_0000929	An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
HP:0000930	Elevated imprint of the transverse sinuses	biolink:PhenotypicFeature	hp	UMLS:C4025817		Elevated imprint of occipital bone over the transverse sinuses|Elevated imprint of posterior skull bones over the transverse sinuses|Thinning and bulging of occipital bone over the transverse sinuses|Thinning and bulging of posterior skull bones over the transverse sinuses	http://purl.obolibrary.org/obo/HP_0000930	
HP:0000931	Thinning and bulging of the posterior fossa bones	biolink:PhenotypicFeature	hp	UMLS:C4021788|UMLS:C4280608		Thinning and bulging of posterior fossa bones|Thinning and bulging of posterior skull bones|Thinning and bulging of occipital bone of skull	http://purl.obolibrary.org/obo/HP_0000931	
HP:0000932	Abnormal posterior cranial fossa morphology	biolink:PhenotypicFeature	hp	UMLS:C3280768		Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa|Posterior fossa anomaly	http://purl.obolibrary.org/obo/HP_0000932	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	biolink:PhenotypicFeature	hp	UMLS:C4025816			http://purl.obolibrary.org/obo/HP_0000933	
HP:0000934	Chondrocalcinosis	biolink:PhenotypicFeature	hp	MSH:D002805|SNOMEDCT_US:201637001|SNOMEDCT_US:239832006|SNOMEDCT_US:239838005|UMLS:C0553730		Calcium deposits in joints	http://purl.obolibrary.org/obo/HP_0000934	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	biolink:PhenotypicFeature	hp	UMLS:C1840418		Broad cortex of long bones|Cortical thickening of the long bones|Thickened cortices of long bones	http://purl.obolibrary.org/obo/HP_0000935	Abnormal thickening of the cortex of long bones.
HP:0000938	Osteopenia	biolink:PhenotypicFeature	hp	MSH:D001851|SNOMEDCT_US:312894000|SNOMEDCT_US:78441005|UMLS:C0029453|UMLS:C0747078		Generalized osteopenia	http://purl.obolibrary.org/obo/HP_0000938	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	biolink:PhenotypicFeature	hp	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456			http://purl.obolibrary.org/obo/HP_0000939	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	biolink:PhenotypicFeature	hp	UMLS:C4021787		Abnormal shape of shaft of long bone|Abnormality of shaft of long bone of the limbs|Abnormality involving the diaphyses of the limbs|Abnormality of the diaphyses|Anomaly of the limb diaphyses|Anomaly of the limb diaphyses morphology	http://purl.obolibrary.org/obo/HP_0000940	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	biolink:PhenotypicFeature	hp	UMLS:C4025815		Short shaft of long bone	http://purl.obolibrary.org/obo/HP_0000941	
HP:0000943	Dysostosis multiplex	biolink:PhenotypicFeature	hp	MSH:D008059|SNOMEDCT_US:254069004|SNOMEDCT_US:65327002|UMLS:C0086795			http://purl.obolibrary.org/obo/HP_0000943	
HP:0000944	Abnormality of the metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025814		Abnormality of the wide portion of a long bone	http://purl.obolibrary.org/obo/HP_0000944	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	biolink:PhenotypicFeature	hp	UMLS:C1861218|UMLS:C4280607		Small wings of the pelvic girdle|Short and small iliac bones|Small iliac bones	http://purl.obolibrary.org/obo/HP_0000946	Underdevelopment of the ilium.
HP:0000947	Dumbbell-shaped long bone	biolink:PhenotypicFeature	hp	UMLS:C2749582		Dumbbell-shaped long bone|Dumbbell widening of long bone metaphyses	http://purl.obolibrary.org/obo/HP_0000947	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	biolink:PhenotypicFeature	hp	MSH:D012868|MSH:D012871|SNOMEDCT_US:199879009|SNOMEDCT_US:95320005|UMLS:C0037268|UMLS:C0037274	hposlim_core	Abnormality of the skin|dermatopathy|dermopathy|Skin abnormality	http://purl.obolibrary.org/obo/HP_0000951	An abnormality of the skin.
HP:0000952	Jaundice	biolink:PhenotypicFeature	hp	MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346		Jaundice|Yellow skin|Yellowing of the skin|Icterus	http://purl.obolibrary.org/obo/HP_0000952	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	biolink:PhenotypicFeature	hp	MSH:D017495|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009|UMLS:C0162834		Patchy darkened skin|Cutaneous hyperpigmentation|Hyperpigmented lesion|Increased skin pigmentation|Skin hyperpigmentation|Melanoderma|Melanodermia	http://purl.obolibrary.org/obo/HP_0000953	A darkening of the skin related to an increase in melanin production and deposition.
HP:0000954	Single transverse palmar crease	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248409006|UMLS:C0424731	hposlim_core	Simian crease|Simian creases|Simian line|Single flexion crease|Single palmar crease|Single palmar creases|Single transverse palmar creases|Transverse palmar crease	http://purl.obolibrary.org/obo/HP_0000954	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
HP:0000956	Acanthosis nigricans	biolink:PhenotypicFeature	hp	MSH:D000052|SNOMEDCT_US:402599005|SNOMEDCT_US:72129000|UMLS:C0000889	secondary_consequence	Darkened and thickened skin|Keratosis nigricans	http://purl.obolibrary.org/obo/HP_0000956	A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
HP:0000957	Cafe-au-lait spot	biolink:PhenotypicFeature	hp	MSH:D019080|SNOMEDCT_US:201281002|SNOMEDCT_US:51089004|UMLS:C0221263|UMLS:C0265974		Birthmark|Flat light-brown mark on skin|Cafe au lait spots|Cafe-au-lait macule|Cafe-au-lait macules|Cafe-au-lait spots	http://purl.obolibrary.org/obo/HP_0000957	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	biolink:PhenotypicFeature	hp	MEDDRA:10048222|SNOMEDCT_US:16386004|UMLS:C0151908|UMLS:C0259817	hposlim_core	Dry skin|Xerosis	http://purl.obolibrary.org/obo/HP_0000958	Skin characterized by the lack of natural or normal moisture.
HP:0000960	Sacral dimple	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249729002|SNOMEDCT_US:311897005|UMLS:C0426848	hposlim_core	Spinal dimple|Pilonidal dimple	http://purl.obolibrary.org/obo/HP_0000960	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.
HP:0000961	Cyanosis	biolink:PhenotypicFeature	hp	MSH:D003490|SNOMEDCT_US:119419001|SNOMEDCT_US:3415004|UMLS:C0010520		Blue discoloration of the skin	http://purl.obolibrary.org/obo/HP_0000961	Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
HP:0000962	Hyperkeratosis	biolink:PhenotypicFeature	hp	MEDDRA:10020649|SNOMEDCT_US:26996000|SNOMEDCT_US:396228006|SNOMEDCT_US:399955009|UMLS:C0870082	hposlim_core		http://purl.obolibrary.org/obo/HP_0000962	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:277797007|UMLS:C0423757	hposlim_core	Thin skin	http://purl.obolibrary.org/obo/HP_0000963	Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
HP:0000964	Eczema	biolink:PhenotypicFeature	hp	MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|UMLS:C0013595		Eczema	http://purl.obolibrary.org/obo/HP_0000964	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	biolink:PhenotypicFeature	hp	UMLS:C0263401	hposlim_core		http://purl.obolibrary.org/obo/HP_0000965	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	biolink:PhenotypicFeature	hp	MEDDRA:10021013|MSH:D007007|SNOMEDCT_US:45004005|UMLS:C0020620	hposlim_core	Decreased ability to sweat|Decreased sweating|Sweating, decreased|Inadequate sweating|Oligohidrosis	http://purl.obolibrary.org/obo/HP_0000966	Abnormally diminished capacity to sweat.
HP:0000967	Petechiae	biolink:PhenotypicFeature	hp	MEDDRA:10034754|MSH:D011693|SNOMEDCT_US:271813007|SNOMEDCT_US:50091001|UMLS:C0031256	hposlim_core		http://purl.obolibrary.org/obo/HP_0000967	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	biolink:PhenotypicFeature	hp	MSH:D004476|SNOMEDCT_US:254154003|SNOMEDCT_US:8654005|UMLS:C0013575			http://purl.obolibrary.org/obo/HP_0000968	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	biolink:PhenotypicFeature	hp	MSH:D004487|SNOMEDCT_US:20741006|SNOMEDCT_US:267038008|SNOMEDCT_US:423666004|SNOMEDCT_US:79654002|UMLS:C0013604		Fluid retention|Water retention|Dropsy|Hydrops|Oedema	http://purl.obolibrary.org/obo/HP_0000969	An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
HP:0000970	Anhidrosis	biolink:PhenotypicFeature	hp	MEDDRA:10002512|MSH:D007007|SNOMEDCT_US:14662005|SNOMEDCT_US:39659002|UMLS:C0003028	hposlim_core	Lack of sweating|Sweating dysfunction|Anhydrosis|Sudomotor dysfunction	http://purl.obolibrary.org/obo/HP_0000970	Inability to sweat.
HP:0000971	Abnormal sweat gland morphology	biolink:PhenotypicFeature	hp	MSH:D013543|SNOMEDCT_US:88232005|UMLS:C0038986|UMLS:C0262643|UMLS:C4020881		Abnormality of the sweat gland|Abnormalities of sweating|Sweat gland disease	http://purl.obolibrary.org/obo/HP_0000971	Any structural abnormality of the sweat gland.
HP:0000972	Palmoplantar hyperkeratosis	biolink:PhenotypicFeature	hp	MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596	hposlim_core	Thickening of the outer layer of the skin of the palms and soles|Hyperkeratosis of palms and soles|Hyperkeratosis of the palms and soles|Palmoplantar keratoses|Palmoplantar keratosis|Thick palms and soles|Thickened palms and soles	http://purl.obolibrary.org/obo/HP_0000972	Hyperkeratosis affecting the palm of the hand and the sole of the foot.
HP:0000973	Cutis laxa	biolink:PhenotypicFeature	hp	MSH:C531660|MSH:D003483|SNOMEDCT_US:58588007|UMLS:C0010495|UMLS:C2930812|UMLS:C4280606		Hanging skin|Loose and inelastic skin|Chalazoderma|Cutaneous laxity|Dermatochalasia|Dermatomegaly|Elastolysis|Generalized elastolysis|Hypoelastic skin|Inelastic skin|Lax skin|Loose skin|Skin laxity	http://purl.obolibrary.org/obo/HP_0000973	Wrinkled, redundant, inelastic and sagging skin.
HP:0000974	Hyperextensible skin	biolink:PhenotypicFeature	hp	UMLS:C0241074	hposlim_core	Hyperelastic skin|Skin hyperelasticity|Stretchable skin|Skin hyperextensibility	http://purl.obolibrary.org/obo/HP_0000974	A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
HP:0000975	Hyperhidrosis	biolink:PhenotypicFeature	hp	MEDDRA:10020642|MSH:D006945|MSH:D013546|SNOMEDCT_US:161857006|SNOMEDCT_US:312230002|SNOMEDCT_US:364538006|SNOMEDCT_US:415690000|SNOMEDCT_US:415691001|SNOMEDCT_US:52613005|UMLS:C0020458|UMLS:C0038990|UMLS:C0700590	hposlim_core	Excessive sweating|Increased sweating|Profuse sweating|Sweating|Sweating profusely|Sweating, increased|Diaphoresis	http://purl.obolibrary.org/obo/HP_0000975	Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
HP:0000976	Eczematoid dermatitis	biolink:PhenotypicFeature	hp	MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000|UMLS:C0013595			http://purl.obolibrary.org/obo/HP_0000976	
HP:0000977	Soft skin	biolink:PhenotypicFeature	hp	UMLS:C0241178|UMLS:C1844592	hposlim_core	Soft skin|Velvety skin|Velvety skin texture	http://purl.obolibrary.org/obo/HP_0000977	Subjective impression of increased softness upon palpitation of the skin.
HP:0000978	Bruising susceptibility	biolink:PhenotypicFeature	hp	MSH:D004438|SNOMEDCT_US:302227002|SNOMEDCT_US:424131007|SNOMEDCT_US:425075004|SNOMEDCT_US:77643000|UMLS:C0013491|UMLS:C0423798		Bruise easily|Bruising susceptibility|Easy bruisability|Easy bruising|Bruisability	http://purl.obolibrary.org/obo/HP_0000978	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	biolink:PhenotypicFeature	hp	MSH:D011693|SNOMEDCT_US:12393003|SNOMEDCT_US:387778001|SNOMEDCT_US:423902002|UMLS:C0034150	hposlim_core	Blood spots|Red or purple spots on the skin	http://purl.obolibrary.org/obo/HP_0000979	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	biolink:PhenotypicFeature	hp	MSH:D010167|SNOMEDCT_US:398979000|UMLS:C0030232		Paleness|Skin paleness	http://purl.obolibrary.org/obo/HP_0000980	Abnormally pale skin.
HP:0000982	Palmoplantar keratoderma	biolink:PhenotypicFeature	hp	MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596		Thickening of palms and soles|Palmar and plantar keratoderma	http://purl.obolibrary.org/obo/HP_0000982	Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
HP:0000987	Atypical scarring of skin	biolink:PhenotypicFeature	hp	UMLS:C4021786		Atypical scarring|Atypical scarring of skin	http://purl.obolibrary.org/obo/HP_0000987	Atypically scarred skin .
HP:0000988	Skin rash	biolink:PhenotypicFeature	hp	MEDDRA:10037844|MSH:D005076|SNOMEDCT_US:112625008|SNOMEDCT_US:271807003|UMLS:C0015230		Rash|Skin rash|Exanthem	http://purl.obolibrary.org/obo/HP_0000988	A red eruption of the skin.
HP:0000989	Pruritus	biolink:PhenotypicFeature	hp	MSH:D011537|SNOMEDCT_US:279333002|SNOMEDCT_US:418290006|SNOMEDCT_US:418363000|SNOMEDCT_US:424492005|UMLS:C0033774	hposlim_core	Itching|Itchy skin|Skin itching|pruritis	http://purl.obolibrary.org/obo/HP_0000989	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	biolink:PhenotypicFeature	hp	MSH:D014973|SNOMEDCT_US:63103006|UMLS:C0043325		Yellow bumps of fatty deposits on skin|Xanthomata	http://purl.obolibrary.org/obo/HP_0000991	The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
HP:0000992	Cutaneous photosensitivity	biolink:PhenotypicFeature	hp	MSH:D010787|SNOMEDCT_US:90128006|UMLS:C0349506	hposlim_core	Photosensitive skin|Photosensitive skin rashes|Photosensitivity|Sensitivity to sunlight|Skin photosensitivity|Sun sensitivity	http://purl.obolibrary.org/obo/HP_0000992	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	biolink:PhenotypicFeature	hp	UMLS:C1844597		Molluscoid pseudotumor	http://purl.obolibrary.org/obo/HP_0000993	Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
HP:0000995	Melanocytic nevus	biolink:PhenotypicFeature	hp	MSH:D009508|SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|UMLS:C0027962|UMLS:C4280269		Noncancerous mole|Beauty mark|Melanocytic naevus|Melanocytic nevi|Nevocellular nevi|Pigmented naevi|Pigmented nevi	http://purl.obolibrary.org/obo/HP_0000995	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	biolink:PhenotypicFeature	hp	UMLS:C1858545			http://purl.obolibrary.org/obo/HP_0000996	Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.
HP:0000997	Axillary freckling	biolink:PhenotypicFeature	hp	UMLS:C1860335	hposlim_core		http://purl.obolibrary.org/obo/HP_0000997	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	biolink:PhenotypicFeature	hp	MSH:D006983|SNOMEDCT_US:271607001|SNOMEDCT_US:29966009|UMLS:C0020555		Excessive hair growth|Increased hair growth on body	http://purl.obolibrary.org/obo/HP_0000998	Hypertrichosis is increased hair growth that is abnormal in quantity or location.
HP:0000999	Pyoderma	biolink:PhenotypicFeature	hp	MSH:D011711|SNOMEDCT_US:70759006|UMLS:C0034212		Pus-filled lesion	http://purl.obolibrary.org/obo/HP_0000999	Any manifestation of a skin disease associated with the production of pus.
HP:0001000	Abnormality of skin pigmentation	biolink:PhenotypicFeature	hp	UMLS:C1260926	hposlim_core	Abnormal pigmentation|Abnormal skin color|Abnormal skin pigmentation|Abnormality of pigmentation|Abnormality of skin pigmentation|Pigmentary changes|Pigmentary skin changes|Pigmentation anomaly	http://purl.obolibrary.org/obo/HP_0001000	An abnormality of the pigmentation of the skin.
HP:0001001	Abnormality of subcutaneous fat tissue	biolink:PhenotypicFeature	hp	UMLS:C4025813		Abnormality of fatty tissue below the skin	http://purl.obolibrary.org/obo/HP_0001001	
HP:0001002	obsolete Decreased subcutaneous fat	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001002	
HP:0001003	Multiple lentigines	biolink:PhenotypicFeature	hp	SNOMEDCT_US:72100002|UMLS:C0036651|UMLS:C1328931	hposlim_core	Liver spots	http://purl.obolibrary.org/obo/HP_0001003	Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
HP:0001004	Lymphedema	biolink:PhenotypicFeature	hp	MSH:D008209|SNOMEDCT_US:234097001|SNOMEDCT_US:30213001|UMLS:C0024236|UMLS:C0240278|UMLS:C1835229		Swelling caused by excess lymph fluid under skin|Lymphatic obstruction|Lymphoedema|Onset of lymphedema around puberty	http://purl.obolibrary.org/obo/HP_0001004	Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
HP:0001005	Dermatological manifestations of systemic disorders	biolink:PhenotypicFeature	hp	UMLS:C4025812	secondary_consequence		http://purl.obolibrary.org/obo/HP_0001005	
HP:0001006	obsolete Hypotrichosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001006	
HP:0001007	Hirsutism	biolink:PhenotypicFeature	hp	MSH:D006628|SNOMEDCT_US:399939002|UMLS:C0019572		Excessive hairiness	http://purl.obolibrary.org/obo/HP_0001007	Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
HP:0001008	Accumulation of melanosomes in melanocytes	biolink:PhenotypicFeature	hp	UMLS:C1843389			http://purl.obolibrary.org/obo/HP_0001008	
HP:0001009	Telangiectasia	biolink:PhenotypicFeature	hp	MSH:D013684|SNOMEDCT_US:112641009|SNOMEDCT_US:247479008|UMLS:C0039446|UMLS:C1138421		Spider veins|Cutaneous telangiectasia|Telangiectases	http://purl.obolibrary.org/obo/HP_0001009	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	biolink:PhenotypicFeature	hp	MSH:D017496|SNOMEDCT_US:18655006|SNOMEDCT_US:201284005|SNOMEDCT_US:23006000|SNOMEDCT_US:89031001|UMLS:C0162835		Patchy lightened skin|Hypopigmentation|Hypopigmented skin|Skin hypopigmentation	http://purl.obolibrary.org/obo/HP_0001010	A reduction of skin color related to a decrease in melanin production and deposition.
HP:0001011	obsolete Diaphoresis (with pheochromocytoma)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001011	
HP:0001012	Multiple lipomas	biolink:PhenotypicFeature	hp	MSH:D008067|NCIT:C3192|SNOMEDCT_US:404062002|SNOMEDCT_US:46720004|SNOMEDCT_US:93163002|UMLS:C0023798|UMLS:C0745730		Multiple fatty lumps|Lipomas|Lipomatosis	http://purl.obolibrary.org/obo/HP_0001012	The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
HP:0001013	Eruptive xanthomas	biolink:PhenotypicFeature	hp	SNOMEDCT_US:238952003|UMLS:C0221252			http://purl.obolibrary.org/obo/HP_0001013	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	biolink:PhenotypicFeature	hp	MSH:D000794|SNOMEDCT_US:26810009|UMLS:C0002985		Angiokeratomas	http://purl.obolibrary.org/obo/HP_0001014	A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
HP:0001015	Prominent superficial veins	biolink:PhenotypicFeature	hp	UMLS:C1837785		Prominent veins	http://purl.obolibrary.org/obo/HP_0001015	A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
HP:0001017	Anemic pallor	biolink:PhenotypicFeature	hp	UMLS:C4025811		Anaemic pallor	http://purl.obolibrary.org/obo/HP_0001017	A type of pallor that is secondary to the presence of anemia.
HP:0001018	Abnormal palmar dermatoglyphics	biolink:PhenotypicFeature	hp	UMLS:C4025810			http://purl.obolibrary.org/obo/HP_0001018	An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
HP:0001019	Erythroderma	biolink:PhenotypicFeature	hp	MSH:D003873|SNOMEDCT_US:200948000|SNOMEDCT_US:396349005|SNOMEDCT_US:396350005|SNOMEDCT_US:399992009|SNOMEDCT_US:400005007|UMLS:C0011606		Red scaly skin caused by inflammatory skin disease|Exfoliative dermititis|Generalized erythroderma|Generalized erythrodermia	http://purl.obolibrary.org/obo/HP_0001019	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	biolink:PhenotypicFeature	hp	MSH:D000417|SNOMEDCT_US:15890002|SNOMEDCT_US:18064000|UMLS:C0001916|UMLS:C0333913		Albinism|Achromasia	http://purl.obolibrary.org/obo/HP_0001022	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	biolink:PhenotypicFeature	hp	UMLS:C1855815			http://purl.obolibrary.org/obo/HP_0001024	
HP:0001025	Urticaria	biolink:PhenotypicFeature	hp	MEDDRA:10046735|MSH:D014581|SNOMEDCT_US:126485001|SNOMEDCT_US:247472004|SNOMEDCT_US:64305001|UMLS:C0042109	hposlim_core	Hives	http://purl.obolibrary.org/obo/HP_0001025	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	biolink:PhenotypicFeature	hp	UMLS:C4025809		Penetrating foot ulcers	http://purl.obolibrary.org/obo/HP_0001026	
HP:0001027	Soft, doughy skin	biolink:PhenotypicFeature	hp	UMLS:C1849043		Soft, doughy skin	http://purl.obolibrary.org/obo/HP_0001027	A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
HP:0001028	Hemangioma	biolink:PhenotypicFeature	hp	MSH:D006391|NCIT:C3085|SNOMEDCT_US:2099007|SNOMEDCT_US:253053003|SNOMEDCT_US:400210000|UMLS:C0018916		Strawberry mark|Hemangiomata	http://purl.obolibrary.org/obo/HP_0001028	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	biolink:PhenotypicFeature	hp	MEDDRA:10057041|SNOMEDCT_US:402685001|SNOMEDCT_US:70114006|UMLS:C0392777	hposlim_core		http://purl.obolibrary.org/obo/HP_0001029	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	biolink:PhenotypicFeature	hp	MEDDRA:10040851|SNOMEDCT_US:247427007|UMLS:C0241181	hposlim_core	Fragile skin|Skin fragility	http://purl.obolibrary.org/obo/HP_0001030	Skin that splits easily with minimal injury.
HP:0001031	Subcutaneous lipoma	biolink:PhenotypicFeature	hp	NCIT:C3192|UMLS:C1403035			http://purl.obolibrary.org/obo/HP_0001031	The presence of subcutaneous lipoma.
HP:0001032	Absent distal interphalangeal creases	biolink:PhenotypicFeature	hp	UMLS:C1861349		Absence of skin creases over distal interphalangeal joints|Aplasia of the distal interphalangeal creases|Distal finger flexion creases absent	http://purl.obolibrary.org/obo/HP_0001032	Absence of the distal interphalangeal flexion creases of the fingers.
HP:0001033	Facial flushing after alcohol intake	biolink:PhenotypicFeature	hp	UMLS:C4025808	secondary_consequence	Facial flushing after alcohol intake	http://purl.obolibrary.org/obo/HP_0001033	
HP:0001034	Hypermelanotic macule	biolink:PhenotypicFeature	hp	UMLS:C1842774		Hyperpigmented spots|Hyperpigmented skin patches|Hyperpigmented macules	http://purl.obolibrary.org/obo/HP_0001034	A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
HP:0001036	Parakeratosis	biolink:PhenotypicFeature	hp	MSH:D010241|SNOMEDCT_US:200766001|SNOMEDCT_US:65068000|UMLS:C0030436			http://purl.obolibrary.org/obo/HP_0001036	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	biolink:PhenotypicFeature	hp	UMLS:C1867638	secondary_consequence		http://purl.obolibrary.org/obo/HP_0001038	
HP:0001039	Atheroeruptive xanthoma	biolink:PhenotypicFeature	hp	UMLS:C4025807			http://purl.obolibrary.org/obo/HP_0001039	
HP:0001040	Multiple pterygia	biolink:PhenotypicFeature	hp	UMLS:C1867448			http://purl.obolibrary.org/obo/HP_0001040	
HP:0001041	Facial erythema	biolink:PhenotypicFeature	hp	MSH:D001821|MSH:D012393|SNOMEDCT_US:20255002|SNOMEDCT_US:271811009|SNOMEDCT_US:398909004|UMLS:C0005874|UMLS:C0035854|UMLS:C0239488|UMLS:C4020880		Blushed cheeks|Blushing|Red face|Red in the face|Rosacea|Ruddy face	http://purl.obolibrary.org/obo/HP_0001041	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	biolink:PhenotypicFeature	hp	UMLS:C4025806			http://purl.obolibrary.org/obo/HP_0001042	
HP:0001043	Prominent scalp veins	biolink:PhenotypicFeature	hp	UMLS:C1856542		Prominent scalp veins	http://purl.obolibrary.org/obo/HP_0001043	
HP:0001045	Vitiligo	biolink:PhenotypicFeature	hp	MSH:D014820|SNOMEDCT_US:56727007|UMLS:C0042900		Blotchy loss of skin color	http://purl.obolibrary.org/obo/HP_0001045	
HP:0001046	Intermittent jaundice	biolink:PhenotypicFeature	hp	UMLS:C4025805	secondary_consequence	Intermittent yellow skin|Intermittent yellowing of skin|Intermittent icterus	http://purl.obolibrary.org/obo/HP_0001046	Jaundice that is sometimes present, sometimes not.
HP:0001047	Atopic dermatitis	biolink:PhenotypicFeature	hp	MSH:D003876|SNOMEDCT_US:200775004|SNOMEDCT_US:24079001|UMLS:C0011615|UMLS:C4280605		Baby eczema|Atopic dermatitis, chronic|Dermatitis, Atopic	http://purl.obolibrary.org/obo/HP_0001047	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	biolink:PhenotypicFeature	hp	MEDDRA:10055899|MSH:D006392|NCIT:C3086|SNOMEDCT_US:33377007|SNOMEDCT_US:416824008|SNOMEDCT_US:56975005|UMLS:C0018920	hposlim_core	Collection of dilated blood vessels that forms mass|Cavernous angioma|Cavernous haemangioma	http://purl.obolibrary.org/obo/HP_0001048	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	biolink:PhenotypicFeature	hp	UMLS:C1861400			http://purl.obolibrary.org/obo/HP_0001049	
HP:0001050	Plethora	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75246004|UMLS:C0232370			http://purl.obolibrary.org/obo/HP_0001050	
HP:0001051	Seborrheic dermatitis	biolink:PhenotypicFeature	hp	MSH:D012628|SNOMEDCT_US:50563003|SNOMEDCT_US:86708008|UMLS:C0036508|UMLS:C3806554		Seborrhea|Seborrheic eczema|Dysseborrheic dermatitis	http://purl.obolibrary.org/obo/HP_0001051	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	biolink:PhenotypicFeature	hp	MEDDRA:10067193|MSH:D019339|SNOMEDCT_US:254211001|SNOMEDCT_US:416377005|UMLS:C0235752	hposlim_core	port-wine stain|Nevus simplex	http://purl.obolibrary.org/obo/HP_0001052	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	biolink:PhenotypicFeature	hp	UMLS:C1836735		Patchy loss of skin color	http://purl.obolibrary.org/obo/HP_0001053	
HP:0001054	Numerous nevi	biolink:PhenotypicFeature	hp	UMLS:C1849677		Numerous moles|Multiple pigmented nevi	http://purl.obolibrary.org/obo/HP_0001054	
HP:0001055	Erysipelas	biolink:PhenotypicFeature	hp	MEDDRA:10015145|MSH:D004881|MSH:D004886|SNOMEDCT_US:44653001|SNOMEDCT_US:51510002|UMLS:C0014714|UMLS:C0014733	hposlim_core	St. Anthony's Fire	http://purl.obolibrary.org/obo/HP_0001055	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254679001|SNOMEDCT_US:254683001|SNOMEDCT_US:37719003|UMLS:C0345996	hposlim_core	Milk spot|Millium cyst	http://purl.obolibrary.org/obo/HP_0001056	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	biolink:PhenotypicFeature	hp	MEDDRA:10002963|MSH:D004476|SNOMEDCT_US:254237003|SNOMEDCT_US:35484002|SNOMEDCT_US:74223008|UMLS:C0265989|UMLS:C0282160	hposlim_core	Absence of part of skin at birth|Congenital scars|Congenital absence of skin|Cutis aplasia	http://purl.obolibrary.org/obo/HP_0001057	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	biolink:PhenotypicFeature	hp	UMLS:C1851789	hposlim_core	Poor wound healing	http://purl.obolibrary.org/obo/HP_0001058	A reduced ability to heal cutaneous wounds.
HP:0001059	Pterygium	biolink:PhenotypicFeature	hp	MSH:D011625|SNOMEDCT_US:77489003|UMLS:C0033999		Surfer's eye|Pterygia	http://purl.obolibrary.org/obo/HP_0001059	Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
HP:0001060	Axillary pterygium	biolink:PhenotypicFeature	hp	UMLS:C1844738		Axillary pterygia	http://purl.obolibrary.org/obo/HP_0001060	Presence of a cutaneous membrane (flap) in the armpit.
HP:0001061	Acne	biolink:PhenotypicFeature	hp	MEDDRA:10000496|SNOMEDCT_US:11381005|UMLS:C0702166	hposlim_core	Breaking out|Acne	http://purl.obolibrary.org/obo/HP_0001061	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	biolink:PhenotypicFeature	hp	MSH:D004416|SNOMEDCT_US:254818000|SNOMEDCT_US:61814002|UMLS:C0205748		Atypical mole|Dysplastic Nevus	http://purl.obolibrary.org/obo/HP_0001062	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25003006|UMLS:C0221347		Persistent blue color of hands, feet, or parts of face	http://purl.obolibrary.org/obo/HP_0001063	
HP:0001065	Striae distensae	biolink:PhenotypicFeature	hp	MEDDRA:10040925|MSH:D057896|SNOMEDCT_US:201066002|SNOMEDCT_US:201067006|SNOMEDCT_US:47212006|UMLS:C0152459	hposlim_core	Stretch marks|Purplish striae|Striae|Striae atrophicae|Striae cutis distensae	http://purl.obolibrary.org/obo/HP_0001065	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	biolink:PhenotypicFeature	hp	MSH:D017253|NCIT:C3272|SNOMEDCT_US:19133005|SNOMEDCT_US:81669005|UMLS:C0162678		Neurofibromata|Neurofibromatosis|multiple neurofibromas	http://purl.obolibrary.org/obo/HP_0001067	The presence of multiple cutaneous neurofibromas.
HP:0001069	Episodic hyperhidrosis	biolink:PhenotypicFeature	hp	UMLS:C1857171		Sporadic excessive sweating|Hyperhidrosis, episodic	http://purl.obolibrary.org/obo/HP_0001069	Intermittent episodes of abnormally increased perspiration.
HP:0001070	Mottled pigmentation	biolink:PhenotypicFeature	hp	UMLS:C0860439|UMLS:C4020879		Mottled skin coloring|Stippled pigmentation	http://purl.obolibrary.org/obo/HP_0001070	Patchy and irregular skin pigmentation.
HP:0001071	Angiokeratoma corporis diffusum	biolink:PhenotypicFeature	hp	MSH:D000795|SNOMEDCT_US:124464003|SNOMEDCT_US:16652001|UMLS:C0002986		Fabry syndrome	http://purl.obolibrary.org/obo/HP_0001071	
HP:0001072	Thickened skin	biolink:PhenotypicFeature	hp	MEDDRA:10040936|SNOMEDCT_US:17417006|SNOMEDCT_US:69943009|UMLS:C0334008|UMLS:C4020878	hposlim_core	Thick skin|Thickened skin|Diffusely thickened skin|Pachydermia	http://purl.obolibrary.org/obo/HP_0001072	Laminar thickening of skin.
HP:0001073	Cigarette-paper scars	biolink:PhenotypicFeature	hp	UMLS:C1851828	hposlim_core	'cigarette paper scarring'|Cigarette paper scarring|Cigarette-paper scars	http://purl.obolibrary.org/obo/HP_0001073	Thin (atrophic) and wide scars.
HP:0001074	Atypical nevi in non-sun exposed areas	biolink:PhenotypicFeature	hp	UMLS:C4021837			http://purl.obolibrary.org/obo/HP_0001074	
HP:0001075	Atrophic scars	biolink:PhenotypicFeature	hp	SNOMEDCT_US:239172000|SNOMEDCT_US:409766009|UMLS:C0162154	hposlim_core	Sunken or indented skin due to damage|Thin, atrophic scars	http://purl.obolibrary.org/obo/HP_0001075	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	biolink:PhenotypicFeature	hp	UMLS:C1854408		Glabellar capillary hemangioma	http://purl.obolibrary.org/obo/HP_0001076	
HP:0001080	Biliary tract abnormality	biolink:PhenotypicFeature	hp	MSH:D001660|SNOMEDCT_US:105997008|UMLS:C0005424|UMLS:C0549613		Biliary tract disease	http://purl.obolibrary.org/obo/HP_0001080	An abnormality of the biliary tree.
HP:0001081	Cholelithiasis	biolink:PhenotypicFeature	hp	MSH:D002769|SNOMEDCT_US:266474003|UMLS:C0008350		Gallstones	http://purl.obolibrary.org/obo/HP_0001081	Hard, pebble-like deposits that form within the gallbladder.
HP:0001082	Cholecystitis	biolink:PhenotypicFeature	hp	MSH:D002764|SNOMEDCT_US:76581006|UMLS:C0008325		Gallbladder inflammation	http://purl.obolibrary.org/obo/HP_0001082	The presence of inflammatory changes in the gallbladder.
HP:0001083	Ectopia lentis	biolink:PhenotypicFeature	hp	MSH:D004479|MSH:D007906|SNOMEDCT_US:74969002|UMLS:C0013581|UMLS:C0023309	hposlim_core	Abnormality of lens position|Lens dislocation	http://purl.obolibrary.org/obo/HP_0001083	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	biolink:PhenotypicFeature	hp	MSH:D001112|SNOMEDCT_US:111522004|SNOMEDCT_US:231924000|SNOMEDCT_US:231925004|UMLS:C0003742|UMLS:C0339268		Anterior embryotoxon|Arcus lipoidis|Arcus senilis|Corneal annulus|Gerontoxon|Arcus juvenilis	http://purl.obolibrary.org/obo/HP_0001084	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	biolink:PhenotypicFeature	hp	MSH:D010211|SNOMEDCT_US:248487006|SNOMEDCT_US:423341008|SNOMEDCT_US:73221001|UMLS:C0030353	hposlim_core		http://purl.obolibrary.org/obo/HP_0001085	Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
HP:0001087	Developmental glaucoma	biolink:PhenotypicFeature	hp	MSH:D006871|SNOMEDCT_US:204113001|SNOMEDCT_US:413728006|UMLS:C0020302		Childhood glaucoma|Infantile glaucoma|Pediatric glaucoma	http://purl.obolibrary.org/obo/HP_0001087	Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.
HP:0001088	Brushfield spots	biolink:PhenotypicFeature	hp	SNOMEDCT_US:400960002|UMLS:C1303007|UMLS:C4280604	hposlim_core	Speckled iris|Iris brushfield spots	http://purl.obolibrary.org/obo/HP_0001088	The presence of whitish spots in a ring-like arrangement at the periphery of the iris.
HP:0001089	Iris atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95709007|UMLS:C0423319		Iris degeneration	http://purl.obolibrary.org/obo/HP_0001089	Loss of iris tissue (atrophy)
HP:0001090	Abnormally large globe	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246920008|UMLS:C0423221|UMLS:C1855852|UMLS:C4280603		Increased size of eyes|Large eyes|Large eyeballs|Megalophthalmos|Increased size of palpebral fissures|Large of palpebral fissures	http://purl.obolibrary.org/obo/HP_0001090	Diffusely large eye (with megalocornea) without glaucoma.
HP:0001092	Absent lacrimal punctum	biolink:PhenotypicFeature	hp	MSH:C566703|SNOMEDCT_US:204208005|SNOMEDCT_US:253217007|UMLS:C0344509|UMLS:C1867060	hposlim_core	Absent lacrimal gland puncta|Absent lacrimal openings|Absent lacrimal puncta|Aplasia of lacrimal puncta|Lacrimal puncta aplasia|Lacrimal punctum, absence|Agenesis of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0001092	No identifiable superior and/or inferior lacrimal punctum.
HP:0001093	Optic nerve dysplasia	biolink:PhenotypicFeature	hp	UMLS:C2676026			http://purl.obolibrary.org/obo/HP_0001093	The presence of developmental dysplasia of the optic nerve.
HP:0001094	Iridocyclitis	biolink:PhenotypicFeature	hp	MSH:D015863|SNOMEDCT_US:77971008|UMLS:C0022073			http://purl.obolibrary.org/obo/HP_0001094	A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.
HP:0001095	Hypertensive retinopathy	biolink:PhenotypicFeature	hp	MSH:D058437|SNOMEDCT_US:6962006|UMLS:C0152132	secondary_consequence		http://purl.obolibrary.org/obo/HP_0001095	
HP:0001096	Keratoconjunctivitis	biolink:PhenotypicFeature	hp	MSH:D007637|SNOMEDCT_US:88151007|UMLS:C0022573	hposlim_core		http://purl.obolibrary.org/obo/HP_0001096	Inflammation of the cornea and conjunctiva.
HP:0001097	Keratoconjunctivitis sicca	biolink:PhenotypicFeature	hp	MSH:C531719|MSH:D007638|MSH:D014985|MSH:D015352|SNOMEDCT_US:302896008|SNOMEDCT_US:363677007|SNOMEDCT_US:46152009|UMLS:C0013238|UMLS:C0022575|UMLS:C0043349|UMLS:C2930821	hposlim_core	Dry eyes|Dry eye syndrome|Keratitis sicca|Xerophthalmia	http://purl.obolibrary.org/obo/HP_0001097	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	biolink:PhenotypicFeature	hp	UMLS:C4025804		Abnormality of the fundus	http://purl.obolibrary.org/obo/HP_0001098	Any structural abnormality of the fundus of the eye.
HP:0001099	Fundus atrophy	biolink:PhenotypicFeature	hp	UMLS:C2673929			http://purl.obolibrary.org/obo/HP_0001099	
HP:0001100	Heterochromia iridis	biolink:PhenotypicFeature	hp	MSH:C538115|SNOMEDCT_US:247033008|UMLS:C0423318	hposlim_core	Different colored eyes|Heterochromia irides	http://purl.obolibrary.org/obo/HP_0001100	Heterochromia iridis is a difference in the color of the iris in the two eyes.
HP:0001101	Iritis	biolink:PhenotypicFeature	hp	MSH:D007500|SNOMEDCT_US:65074000|UMLS:C0022081		Inflammation of iris	http://purl.obolibrary.org/obo/HP_0001101	Inflammation of the iris.
HP:0001102	Angioid streaks of the fundus	biolink:PhenotypicFeature	hp	MSH:D000793|UMLS:C0002982		Angioid streaks|Angioid streaks of the retina|Angioid streaks, retina|Knapp streaks|Laquer cracks of the retina	http://purl.obolibrary.org/obo/HP_0001102	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:312999006|UMLS:C0730362	hposlim_core	Abnormality of the macula|Macula abnormality|Macular abnormality	http://purl.obolibrary.org/obo/HP_0001103	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	biolink:PhenotypicFeature	hp	UMLS:C1849412	hposlim_core		http://purl.obolibrary.org/obo/HP_0001104	Underdevelopment of the macula lutea.
HP:0001105	Retinal atrophy	biolink:PhenotypicFeature	hp	MSH:D012162|SNOMEDCT_US:405722004|SNOMEDCT_US:95695004|UMLS:C0035304|UMLS:C0521694			http://purl.obolibrary.org/obo/HP_0001105	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	biolink:PhenotypicFeature	hp	UMLS:C1844606		Dark circles around the eyes|Dark circles under the eyes|Darkening around the eyes|Pigmentation around the eyes|Idiopathic cutaneous hyperchromia at the orbital region|Infraorbital pigmentation|Periorbital melanosis	http://purl.obolibrary.org/obo/HP_0001106	Increased pigmentation of the skin in the region surrounding the orbit of the eye.
HP:0001107	Ocular albinism	biolink:PhenotypicFeature	hp	MSH:D016117|SNOMEDCT_US:26399002|UMLS:C0078917		Absent pigmentation in the eye|Albinism, Ocular	http://purl.obolibrary.org/obo/HP_0001107	An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
HP:0001112	Leber optic atrophy	biolink:PhenotypicFeature	hp	MSH:D029242|SNOMEDCT_US:58610003|UMLS:C0917796		Leber optic atrophy features|Leber optic degeneration	http://purl.obolibrary.org/obo/HP_0001112	Degeneration of retinal ganglion cells and their axons.
HP:0001113	obsolete Early cataracts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001113	
HP:0001114	Xanthelasma	biolink:PhenotypicFeature	hp	MSH:D014973|SNOMEDCT_US:63103006|SNOMEDCT_US:6400008|SNOMEDCT_US:75594004|UMLS:C0155210|UMLS:C0302314|UMLS:C4280601|UMLS:C4280602		Fatty deposits in skin around the eyes|Fatty deposits on eyelids|Xanthelasma palpebrarum|Xanthoma|Xanthelasma of eyelid|Xanthelasma of periocular region|Xanthoma of eyelid|Xanthoma of periocular region	http://purl.obolibrary.org/obo/HP_0001114	The presence of xanthomata in the skin of the eyelid.
HP:0001115	Posterior polar cataract	biolink:PhenotypicFeature	hp	UMLS:C1850191		Polar cataract, posterior	http://purl.obolibrary.org/obo/HP_0001115	A polar cataract that affects the posterior pole of the lens.
HP:0001116	Macular coloboma	biolink:PhenotypicFeature	hp	MSH:C535968|UMLS:C1852767		Coloboma of the macula	http://purl.obolibrary.org/obo/HP_0001116	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	biolink:PhenotypicFeature	hp	UMLS:C4025803|UMLS:C4072828|UMLS:C4280600		Sudden decrease in vision|Sudden central visual loss	http://purl.obolibrary.org/obo/HP_0001117	Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.
HP:0001118	Juvenile cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:399336001|UMLS:C0302254			http://purl.obolibrary.org/obo/HP_0001118	A type of cataract that is not apparent at birth but that arises in childhood or adolescence.
HP:0001119	Keratoglobus	biolink:PhenotypicFeature	hp	UMLS:C3887531	hposlim_core		http://purl.obolibrary.org/obo/HP_0001119	Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.
HP:0001120	Abnormality of corneal size	biolink:PhenotypicFeature	hp	UMLS:C4025802			http://purl.obolibrary.org/obo/HP_0001120	Any abnormality of the size or morphology of the cornea.
HP:0001122	obsolete Aplasia/Hypoplasia of the choroid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001122	
HP:0001123	Visual field defect	biolink:PhenotypicFeature	hp	SNOMEDCT_US:12184005|UMLS:C3887875		Partial loss of field of vision|Visual field defects	http://purl.obolibrary.org/obo/HP_0001123	
HP:0001125	Transient unilateral blurring of vision	biolink:PhenotypicFeature	hp	UMLS:C1865332		Hemianoptic blurring of vision|Transient unilateral blurred vision|Hemianopic blurring	http://purl.obolibrary.org/obo/HP_0001125	Transient blurring of vision associated with the aura phase of migraine.
HP:0001126	Cryptophthalmos	biolink:PhenotypicFeature	hp	SNOMEDCT_US:400951005|UMLS:C0311249	hposlim_core		http://purl.obolibrary.org/obo/HP_0001126	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	biolink:PhenotypicFeature	hp	MSH:D058457|SNOMEDCT_US:60332004|UMLS:C0221259		Ingrown eyelashes|Introversion of eyelashes|Trichiasis of eyelid eyelashes	http://purl.obolibrary.org/obo/HP_0001128	Inversion and rubbing of the eyelashes against the globe of the eye.
HP:0001129	Large central visual field defect	biolink:PhenotypicFeature	hp	UMLS:C4025800		Large central loss of field of vision	http://purl.obolibrary.org/obo/HP_0001129	
HP:0001131	Corneal dystrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5587004|UMLS:C0010036	hposlim_core		http://purl.obolibrary.org/obo/HP_0001131	An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
HP:0001132	Lens subluxation	biolink:PhenotypicFeature	hp	MSH:D007906|SNOMEDCT_US:65814009|UMLS:C0023316		Partially dislocated lens	http://purl.obolibrary.org/obo/HP_0001132	Partial dislocation of the lens of the eye.
HP:0001133	Constriction of peripheral visual field	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1151008|SNOMEDCT_US:267628004|UMLS:C0235095		Limited peripheral vision|Concentric narrowing of visual field|Constricted visual field|Constricted visual fields|Visual field constriction	http://purl.obolibrary.org/obo/HP_0001133	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	biolink:PhenotypicFeature	hp	MSH:C538282|UMLS:C1855179		Polar cataract, anterior	http://purl.obolibrary.org/obo/HP_0001134	A polar cataract that affects the anterior pole of the lens.
HP:0001135	Chorioretinal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C1857627			http://purl.obolibrary.org/obo/HP_0001135	
HP:0001136	Retinal arteriolar tortuosity	biolink:PhenotypicFeature	hp	UMLS:C1843517		Tortuous retinal arterioles	http://purl.obolibrary.org/obo/HP_0001136	The presence of an increased number of twists and turns of the retinal arterioles.
HP:0001137	Alternating esotropia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39837002|UMLS:C0152205		Alternating cross eyes	http://purl.obolibrary.org/obo/HP_0001137	Esotropia in which either eye may be used for fixation.
HP:0001138	Optic neuropathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82108004|UMLS:C3887709		Damaged optic nerve	http://purl.obolibrary.org/obo/HP_0001138	
HP:0001139	Choroideremia	biolink:PhenotypicFeature	hp	MSH:D015794|SNOMEDCT_US:75241009|UMLS:C0008525			http://purl.obolibrary.org/obo/HP_0001139	
HP:0001140	Limbal dermoid	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5131000119107|SNOMEDCT_US:92097004|UMLS:C0496897|UMLS:C1867616	hposlim_core	Benign eye tumor|Epibulbar dermoids|Epibulbar dermoid	http://purl.obolibrary.org/obo/HP_0001140	A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
HP:0001141	Severely reduced visual acuity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:397541004|UMLS:C1301509		Marked vision impairment|Severe visual impairment|Severely impaired vision|Severe reduction in visual acuity|Severe vision loss|Severe visual loss	http://purl.obolibrary.org/obo/HP_0001141	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253221000|UMLS:C0239119	hposlim_core		http://purl.obolibrary.org/obo/HP_0001142	A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
HP:0001144	Orbital cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:31021007|UMLS:C0155285		Cyst of eye socket|Orbital cysts	http://purl.obolibrary.org/obo/HP_0001144	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:0001145	obsolete Chorioretinopathy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001145	
HP:0001146	obsolete Pigmentary retinal degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001146	
HP:0001147	Retinal exudate	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39832008|UMLS:C0240897		Retinal exudates	http://purl.obolibrary.org/obo/HP_0001147	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	biolink:PhenotypicFeature	hp	MSH:D028227|SNOMEDCT_US:1192004|SNOMEDCT_US:361199007|UMLS:C0155127		Biber haab dimmer dystrophy	http://purl.obolibrary.org/obo/HP_0001149	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:0001150	obsolete Choroidal sclerosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001150	
HP:0001151	Impaired horizontal smooth pursuit	biolink:PhenotypicFeature	hp	UMLS:C1866753		Abnormal horizontal ocular pursuit|Impaired horizontal visual pursuit	http://purl.obolibrary.org/obo/HP_0001151	An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
HP:0001152	Saccadic smooth pursuit	biolink:PhenotypicFeature	hp	UMLS:C1836479		Saccadic pursuit movements|Saccadic slow pursuit	http://purl.obolibrary.org/obo/HP_0001152	An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
HP:0001153	Septate vagina	biolink:PhenotypicFeature	hp	SNOMEDCT_US:47054003|UMLS:C0266411		Double vagina	http://purl.obolibrary.org/obo/HP_0001153	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	biolink:PhenotypicFeature	hp	MSH:D006226|SNOMEDCT_US:299033004|UMLS:C0018564	hposlim_core	Abnormal hands|Abnormality of the hand|Hand anomalies|Hand deformities	http://purl.obolibrary.org/obo/HP_0001155	An abnormality affecting one or both hands.
HP:0001156	Brachydactyly	biolink:PhenotypicFeature	hp	MSH:D059327|SNOMEDCT_US:43476002|UMLS:C0221357		Short fingers or toes|Brachydactyly syndrome	http://purl.obolibrary.org/obo/HP_0001156	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	biolink:PhenotypicFeature	hp	Fyler:4174|MSH:D013576|SNOMEDCT_US:373413006|UMLS:C0039075		Webbed fingers or toes	http://purl.obolibrary.org/obo/HP_0001159	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	biolink:PhenotypicFeature	hp	MEDDRA:10036064|SNOMEDCT_US:81793007|UMLS:C0158733	hposlim_core	Extra finger|Finger polydactyly|Polydactyly of the hand|Supernumerary finger	http://purl.obolibrary.org/obo/HP_0001161	A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
HP:0001162	Postaxial hand polydactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205131007|UMLS:C0431904	hposlim_core	Extra little finger|Extra pinkie finger|Extra pinky finger|Polydactyly affecting the 5th finger|Postaxial polydactyly of fingers|Postaxial polydactyly of hand|Postaxial polydactyly of hands	http://purl.obolibrary.org/obo/HP_0001162	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	biolink:PhenotypicFeature	hp	UMLS:C4021785		Abnormality of the long bone of hand|Anomaly of the metacarpal bones	http://purl.obolibrary.org/obo/HP_0001163	An abnormality of the metacarpal bones.
HP:0001166	Arachnodactyly	biolink:PhenotypicFeature	hp	MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706		Long slender fingers|Spider fingers|Long, slender fingers	http://purl.obolibrary.org/obo/HP_0001166	Abnormally long and slender fingers ("spider fingers").
HP:0001167	Abnormality of finger	biolink:PhenotypicFeature	hp	UMLS:C2674737		Abnormalities of the fingers|Abnormality of finger	http://purl.obolibrary.org/obo/HP_0001167	An anomaly of a finger.
HP:0001169	Broad palm	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48251003|UMLS:C0264142		Broad hand|Broad hands|Broad palm|Wide palm	http://purl.obolibrary.org/obo/HP_0001169	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299034005|UMLS:C0221373		Claw hand|Claw hand deformities|Claw hands|Claw-hand deformities|Split hand|Split-hand|Ectrodactyly of the hand|Hand ectrodactyly	http://purl.obolibrary.org/obo/HP_0001171	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	biolink:PhenotypicFeature	hp	MSH:C536903|SNOMEDCT_US:299130003|UMLS:C0575897		Abnormality of the thumb|Abnormality of the thumbs|Thumb deformity	http://purl.obolibrary.org/obo/HP_0001172	An abnormal structure of the first digit of the hand.
HP:0001176	Large hands	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249752003|UMLS:C0426870		Large hands|large hand|Disproportionately large hands	http://purl.obolibrary.org/obo/HP_0001176	
HP:0001177	Preaxial hand polydactyly	biolink:PhenotypicFeature	hp	MSH:C536332|SNOMEDCT_US:205135003|SNOMEDCT_US:445216006|UMLS:C1395852		Extra thumb|Polydactyly affecting the thumb|Preaxial polydactyly of hands|Supernumerary thumb|thumb polydactyly	http://purl.obolibrary.org/obo/HP_0001177	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	biolink:PhenotypicFeature	hp	UMLS:C4025799			http://purl.obolibrary.org/obo/HP_0001178	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71358006|UMLS:C0728895		Hand has less than 5 fingers	http://purl.obolibrary.org/obo/HP_0001180	A developmental defect resulting in the presence of fewer than the normal number of fingers.
HP:0001181	Adducted thumb	biolink:PhenotypicFeature	hp	UMLS:C3554617		Inward turned thumb|Adducted thumbs	http://purl.obolibrary.org/obo/HP_0001181	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249768009|UMLS:C0426886	hposlim_core	Tapered finger|Tapered fingertips|Tapering fingers|Distally tapering fingers|Tapered fingers	http://purl.obolibrary.org/obo/HP_0001182	The gradual reduction in girth of the finger from proximal to distal.
HP:0001187	Hyperextensibility of the finger joints	biolink:PhenotypicFeature	hp	UMLS:C1844577		Finger joint hyperextensibility|Hyperextensible digits|Hyperextensible finger|Hyperextensible fingers	http://purl.obolibrary.org/obo/HP_0001187	The ability of the finger joints to move beyond their normal range of motion.
HP:0001188	Hand clenching	biolink:PhenotypicFeature	hp	UMLS:C0239815	hposlim_core	Clenched hands|Hand clenching	http://purl.obolibrary.org/obo/HP_0001188	An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.
HP:0001191	Abnormality of the carpal bones	biolink:PhenotypicFeature	hp	UMLS:C1840535	hposlim_core	Abnormal wrist bones|Abnormal carpal bones|Anomalous carpal bones|Carpal bone anomalies	http://purl.obolibrary.org/obo/HP_0001191	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	biolink:PhenotypicFeature	hp	UMLS:C4048199			http://purl.obolibrary.org/obo/HP_0001193	
HP:0001194	Abnormalities of placenta or umbilical cord	biolink:PhenotypicFeature	hp	UMLS:C4025798		Abnormalities of placenta or umbilical cord	http://purl.obolibrary.org/obo/HP_0001194	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	biolink:PhenotypicFeature	hp	MSH:D058529|SNOMEDCT_US:204470001|UMLS:C1384670		Only one artery in umbilical cord instead of two|2 vessel cord|2 vessel umbilical cord|Two vessel cord|Two vessel umbilical cord|Two-vessel cord	http://purl.obolibrary.org/obo/HP_0001195	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59795007|UMLS:C0266786		Short umbilical cord	http://purl.obolibrary.org/obo/HP_0001196	Decreased length of the umbilical cord.
HP:0001197	Abnormality of prenatal development or birth	biolink:PhenotypicFeature	hp	UMLS:C4025797		Abnormality of prenatal development or birth	http://purl.obolibrary.org/obo/HP_0001197	An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
HP:0001199	Triphalangeal thumb	biolink:PhenotypicFeature	hp	MSH:C573898|SNOMEDCT_US:205308004|UMLS:C0241397	hposlim_core	Finger-like thumb|Accessory phalanx of the thumb|Digitalized thumb|Triphalangeal thumbs|Triphalangy of thumb	http://purl.obolibrary.org/obo/HP_0001199	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	biolink:PhenotypicFeature	hp	UMLS:C1862158		Fused outermost bones of hand|Symphalangism affecting the distal phalanges of the hand|Synostosis of distal phalanges|Terminal symphalangism	http://purl.obolibrary.org/obo/HP_0001204	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	biolink:PhenotypicFeature	hp	UMLS:C4025796		Abnormality of the fingertips	http://purl.obolibrary.org/obo/HP_0001211	An abnormal structure of the tip (end) of a finger.
HP:0001212	Prominent fingertip pads	biolink:PhenotypicFeature	hp	UMLS:C1835807	hposlim_core	Prominent finger pads|Prominent fingertip pads|Persistence of fingerpads|Persistent fetal fingertip pads	http://purl.obolibrary.org/obo/HP_0001212	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	biolink:PhenotypicFeature	hp	UMLS:C1859368			http://purl.obolibrary.org/obo/HP_0001215	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	biolink:PhenotypicFeature	hp	UMLS:C1841684|UMLS:C4280599	hposlim_core	Delayed maturation of wrist bone|Carpal delayed ossification|Delayed carpal bone age|Delayed carpal ossification|Delayed maturation of carpal bones	http://purl.obolibrary.org/obo/HP_0001216	Ossification of carpal bones occurs later than age-adjusted norms.
HP:0001217	Clubbing	biolink:PhenotypicFeature	hp	SNOMEDCT_US:367004|UMLS:C0149651		Clubbing of fingers and toes|Digital clubbing	http://purl.obolibrary.org/obo/HP_0001217	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	biolink:PhenotypicFeature	hp	UMLS:C1833222			http://purl.obolibrary.org/obo/HP_0001218	Spontaneous detachment (amputation) of an appendage from the body.
HP:0001220	Interphalangeal joint contracture of finger	biolink:PhenotypicFeature	hp	UMLS:C4021784		Interphalangeal joint flexion contractures	http://purl.obolibrary.org/obo/HP_0001220	Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
HP:0001222	Spatulate thumbs	biolink:PhenotypicFeature	hp	UMLS:C0241395		Spoon shaped thumbs	http://purl.obolibrary.org/obo/HP_0001222	Spoon-shaped, broad thumbs.
HP:0001223	Pointed proximal second through fifth metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1854787			http://purl.obolibrary.org/obo/HP_0001223	All of the metacarpal bones of the hand have a pointed proximal appearance.
HP:0001225	Wrist swelling	biolink:PhenotypicFeature	hp	UMLS:C0241760		Wrist swelling	http://purl.obolibrary.org/obo/HP_0001225	
HP:0001226	obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001226	
HP:0001227	Abnormality of the thenar eminence	biolink:PhenotypicFeature	hp	UMLS:C4021783		Thenar abnormality	http://purl.obolibrary.org/obo/HP_0001227	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	biolink:PhenotypicFeature	hp	UMLS:C1842229	hposlim_core	Wide long bones of hand|Wide metacarpals	http://purl.obolibrary.org/obo/HP_0001230	Abnormally broad metacarpal bones.
HP:0001231	Abnormal fingernail morphology	biolink:PhenotypicFeature	hp	UMLS:C4021782		Abnormal fingernails|Abnormality of the fingernails	http://purl.obolibrary.org/obo/HP_0001231	An abnormality of the fingernails.
HP:0001232	Nail bed telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C1838167		Nail bed telangiectases	http://purl.obolibrary.org/obo/HP_0001232	Telangiectases in the area of the nails.
HP:0001233	2-3 finger syndactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205139009|UMLS:C0432055		Webbed 2nd-3rd fingers|Syndactyly 2nd-3rd fingers|Syndactyly, 2-3 finger	http://purl.obolibrary.org/obo/HP_0001233	Syndactyly with fusion of fingers two and three.
HP:0001234	Hitchhiker thumb	biolink:PhenotypicFeature	hp	UMLS:C1857269	hposlim_core	Hitchhiker thumb|Abducted thumb	http://purl.obolibrary.org/obo/HP_0001234	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	biolink:PhenotypicFeature	hp	UMLS:C1857482	hposlim_core	Narrow fingers|Slender finger|Slender fingers|thin fingers	http://purl.obolibrary.org/obo/HP_0001238	Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
HP:0001239	Wrist flexion contracture	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202275008|UMLS:C0409345		Wrist contracture|Wrist flexion deformity	http://purl.obolibrary.org/obo/HP_0001239	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	biolink:PhenotypicFeature	hp	UMLS:C1857002		Capitate-hamate fusions|Fused capitate and hamate|Fusion of capitate and hamate|Fusion of hamate and capitate	http://purl.obolibrary.org/obo/HP_0001241	
HP:0001245	Small thenar eminence	biolink:PhenotypicFeature	hp	UMLS:C1846474	hposlim_core	Decreased thenar eminence|Hypoplastic thenar eminences|Thenar hypoplasia|Thenar muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0001245	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	biolink:PhenotypicFeature	hp	UMLS:C4025795		Shortened short tubular bones of the hand	http://purl.obolibrary.org/obo/HP_0001248	Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
HP:0001249	Intellectual disability	biolink:PhenotypicFeature	hp	MSH:D008607|SNOMEDCT_US:228156007|SNOMEDCT_US:247578003|SNOMEDCT_US:91138005|UMLS:C0025362|UMLS:C0423903|UMLS:C0917816|UMLS:C1843367|UMLS:C3714756|UMLS:C4020876		Intellectual disability|Mental deficiency|Mental retardation|Mental retardation, nonspecific|Mental-retardation|Low intelligence|Poor school performance|Nonprogressive intellectual disability|Nonprogressive mental retardation|Dull intelligence	http://purl.obolibrary.org/obo/HP_0001249	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	biolink:PhenotypicFeature	hp	MSH:D004827|MSH:D012640|SNOMEDCT_US:128613002|SNOMEDCT_US:246545002|SNOMEDCT_US:313307000|SNOMEDCT_US:84757009|SNOMEDCT_US:91175000|UMLS:C0014544|UMLS:C0036572		Seizures|Seizures|Epilepsy|Epileptic seizure	http://purl.obolibrary.org/obo/HP_0001250	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	biolink:PhenotypicFeature	hp	MSH:D002524|SNOMEDCT_US:85102008|UMLS:C0007758		Cerebellar ataxia	http://purl.obolibrary.org/obo/HP_0001251	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	biolink:PhenotypicFeature	hp	MSH:D009123|SNOMEDCT_US:398151007|SNOMEDCT_US:398152000|UMLS:C0026827		Low muscle tone|Low or weak muscle tone|Muscle hypotonia|Muscular hypotonia|Central hypotonia|Peripheral hypotonia	http://purl.obolibrary.org/obo/HP_0001252	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	biolink:PhenotypicFeature	hp	MSH:D053609|SNOMEDCT_US:214264003|UMLS:C0023380		Lethargy	http://purl.obolibrary.org/obo/HP_0001254	A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
HP:0001256	Intellectual disability, mild	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86765009|UMLS:C0026106		Intellectual disability, mild|Mental retardation, borderline-mild|Mild and nonprogressive mental retardation|Mild mental retardation|Mental retardation, mild	http://purl.obolibrary.org/obo/HP_0001256	Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
HP:0001257	Spasticity	biolink:PhenotypicFeature	hp	MSH:D009128|SNOMEDCT_US:221360009|SNOMEDCT_US:397790002|UMLS:C0026838		Involuntary muscle stiffness, contraction, or spasm|Muscle spasticity|Muscular spasticity	http://purl.obolibrary.org/obo/HP_0001257	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	biolink:PhenotypicFeature	hp	MSH:D010264|SNOMEDCT_US:192967009|UMLS:C0037772		Spastic paraplegia, lower limb	http://purl.obolibrary.org/obo/HP_0001258	Spasticity and weakness of the leg and hip muscles.
HP:0001259	Coma	biolink:PhenotypicFeature	hp	ICD-10:R40.2|MSH:D003128|SNOMEDCT_US:371632003|UMLS:C0009421		Coma	http://purl.obolibrary.org/obo/HP_0001259	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	biolink:PhenotypicFeature	hp	MSH:D004401|SNOMEDCT_US:8011004|UMLS:C0013362		Difficulty articulating speech|Dysarthric speech	http://purl.obolibrary.org/obo/HP_0001260	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C2830004		Excessive daytime sleepiness|More than typical sleepiness during day	http://purl.obolibrary.org/obo/HP_0001262	A state of abnormally strong desire for sleep during the daytime.
HP:0001263	Global developmental delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:224958001|UMLS:C0557874|UMLS:C1864897|UMLS:C4020875		Delayed cognitive development|Delayed development|Delayed developmental milestones|Delayed intellectual development|Delayed milestones|Delayed psychomotor development|Developmental delay|Developmental delay in early childhood|Developmental delay, global|Developmental retardation|Lack of psychomotor development|Motor and developmental delay|Psychomotor delay|Psychomotor development deficiency|Psychomotor development failure|Psychomotor developmental delay|Retarded development|Retarded mental development|Retarded psychomotor development|Cognitive delay|Mental and motor retardation	http://purl.obolibrary.org/obo/HP_0001263	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	biolink:PhenotypicFeature	hp	MSH:D002547|SNOMEDCT_US:281411007|UMLS:C0023882			http://purl.obolibrary.org/obo/HP_0001264	Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
HP:0001265	Hyporeflexia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405946002|UMLS:C0700078		Decreased reflex response|Decreased reflexes	http://purl.obolibrary.org/obo/HP_0001265	Reduction of neurologic reflexes such as the knee-jerk reaction.
HP:0001266	Choreoathetosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43105007|UMLS:C0085583|UMLS:C0234967		Choreoathetoid movements	http://purl.obolibrary.org/obo/HP_0001266	Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
HP:0001268	Mental deterioration	biolink:PhenotypicFeature	hp	MSH:D060825|UMLS:C0234985		Cognitive decline|Cognitive decline, progressive|Intellectual deterioration|Mental deterioration|Progressive cognitive decline	http://purl.obolibrary.org/obo/HP_0001268	Loss of previously present mental abilities, generally in adults.
HP:0001269	Hemiparesis	biolink:PhenotypicFeature	hp	MSH:D010291|SNOMEDCT_US:127377003|SNOMEDCT_US:20022000|UMLS:C0018989		Weakness of one side of body	http://purl.obolibrary.org/obo/HP_0001269	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	biolink:PhenotypicFeature	hp	UMLS:C1854301|UMLS:C4020874		Delay in motor development|Delayed early motor milestones|Delayed motor development|Delayed motor milestones|Locomotor delay|Motor developmental delay|Motor developmental milestones not achieved|Motor retardation|Retarded motor development|No development of motor milestones	http://purl.obolibrary.org/obo/HP_0001270	A type of Developmental delay characterized by a delay in acquiring motor skills.
HP:0001271	Polyneuropathy	biolink:PhenotypicFeature	hp	MSH:D010523|MSH:D011115|SNOMEDCT_US:302226006|SNOMEDCT_US:42345000|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C0152025		Peripheral nerve disease	http://purl.obolibrary.org/obo/HP_0001271	A generalized disorder of peripheral nerves.
HP:0001272	Cerebellar atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95646004|UMLS:C0262404|UMLS:C0740279|UMLS:C4020873		Degeneration of cerebellum|Atrophic cerebellum|Infratentorial atrophy	http://purl.obolibrary.org/obo/HP_0001272	Atrophy (wasting) of the cerebellum.
HP:0001273	Abnormal corpus callosum morphology	biolink:PhenotypicFeature	hp	UMLS:C1842581		Abnormal corpus callosum|Abnormality of the corpus callosum|Corpus callosum abnormality	http://purl.obolibrary.org/obo/HP_0001273	Abnormality of the corpus callosum.
HP:0001274	Agenesis of corpus callosum	biolink:PhenotypicFeature	hp	Fyler:4321|MSH:D061085|SNOMEDCT_US:5102002|UMLS:C0175754		Absence of corpus callosum|Absent corpus callosum|Agenesis of the corpus callosum|Callosal agenesis|Corpus callosum agenesis|Dysplastic or absent corpus callosum	http://purl.obolibrary.org/obo/HP_0001274	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	biolink:PhenotypicFeature	hp	MSH:D009122|SNOMEDCT_US:41581000|SNOMEDCT_US:56731001|UMLS:C0026826		Spasticity and rigidity of muscles|Hypertonicity|Increased muscle tone|Muscle hypertonia	http://purl.obolibrary.org/obo/HP_0001276	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	biolink:PhenotypicFeature	hp	MSH:D007024|SNOMEDCT_US:28651003|UMLS:C0020651		Decrease in blood pressure upon standing up|Postural hypotension	http://purl.obolibrary.org/obo/HP_0001278	A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
HP:0001279	Syncope	biolink:PhenotypicFeature	hp	MSH:D013575|SNOMEDCT_US:271594007|SNOMEDCT_US:272030005|SNOMEDCT_US:309585006|UMLS:C0039070		Fainting spell	http://purl.obolibrary.org/obo/HP_0001279	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	biolink:PhenotypicFeature	hp	MSH:D013746|SNOMEDCT_US:10629009|UMLS:C0039621		Intermittent involuntary muscle spasm	http://purl.obolibrary.org/obo/HP_0001281	A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
HP:0001283	Bulbar palsy	biolink:PhenotypicFeature	hp	MSH:D010244|SNOMEDCT_US:398432008|UMLS:C1301959|UMLS:C4082299		Bulbar muscle weakness|Bulbar palsies|Bulbar weakness	http://purl.obolibrary.org/obo/HP_0001283	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	biolink:PhenotypicFeature	hp	MSH:D012021|SNOMEDCT_US:349006|SNOMEDCT_US:37280007|UMLS:C0234146|UMLS:C0241772|UMLS:C0278124		Absent reflexes|Absent tendon reflexes|Absent deep tendon reflexes|Deep tendon reflexes absent|Loss of deep tendon reflexes	http://purl.obolibrary.org/obo/HP_0001284	Absence of neurologic reflexes such as the knee-jerk reaction.
HP:0001285	Spastic tetraparesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298282001|UMLS:C0575059		Spastic quadriparesis	http://purl.obolibrary.org/obo/HP_0001285	Spastic weakness affecting all four limbs.
HP:0001287	Meningitis	biolink:PhenotypicFeature	hp	MSH:D008581|SNOMEDCT_US:7180009|UMLS:C0025289			http://purl.obolibrary.org/obo/HP_0001287	Inflammation of the meninges.
HP:0001288	Gait disturbance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22325002|UMLS:C0575081		Abnormal gait|Abnormal walk|Impaired gait|Gait abnormalities|Gait difficulties|Gait disturbances	http://purl.obolibrary.org/obo/HP_0001288	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	biolink:PhenotypicFeature	hp	MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676		Confusion|Disorientation|Easily confused|Mental disorientation	http://purl.obolibrary.org/obo/HP_0001289	Lack of clarity and coherence of thought, perception, understanding, or action.
HP:0001290	Generalized hypotonia	biolink:PhenotypicFeature	hp	UMLS:C1858120		Generalized decreased muscle tone|Generalised hypotonia|Generalized muscular hypotonia|Hypotonia, generalized	http://purl.obolibrary.org/obo/HP_0001290	Generalized muscular hypotonia (abnormally low muscle tone).
HP:0001291	Abnormal cranial nerve morphology	biolink:PhenotypicFeature	hp	UMLS:C1854510|UMLS:C4020872		Abnormality of cranial nerve|Abnormality of the cranial nerves|Cranial nerve disease|Cranial nerve involvement|Cranial nerve abnormality	http://purl.obolibrary.org/obo/HP_0001291	Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
HP:0001293	Cranial nerve compression	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95664006|UMLS:C0521670			http://purl.obolibrary.org/obo/HP_0001293	
HP:0001297	Stroke	biolink:PhenotypicFeature	hp	MSH:D020521|SNOMEDCT_US:230690007|UMLS:C0038454		Stroke|Cerebral vascular events|Cerebrovascular accident|Cerebrovascular accidents	http://purl.obolibrary.org/obo/HP_0001297	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	biolink:PhenotypicFeature	hp	MSH:D001927|SNOMEDCT_US:81308009|UMLS:C0085584			http://purl.obolibrary.org/obo/HP_0001298	Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
HP:0001300	Parkinsonism	biolink:PhenotypicFeature	hp	MSH:D020734|SNOMEDCT_US:32798002|UMLS:C0242422		Parkinsonian disease	http://purl.obolibrary.org/obo/HP_0001300	Characteristic neurologic anomaly resulting form 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	biolink:PhenotypicFeature	hp	UMLS:C4025794			http://purl.obolibrary.org/obo/HP_0001301	
HP:0001302	Pachygyria	biolink:PhenotypicFeature	hp	MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483		Fewer and broader ridges in brain|Cerebral pachygyria	http://purl.obolibrary.org/obo/HP_0001302	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	biolink:PhenotypicFeature	hp	MSH:D004422|SNOMEDCT_US:22451001|SNOMEDCT_US:431034009|UMLS:C0013423		Dystonia musculorum deformans	http://purl.obolibrary.org/obo/HP_0001304	Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
HP:0001305	Dandy-Walker malformation	biolink:PhenotypicFeature	hp	MSH:D003616|SNOMEDCT_US:14447001|UMLS:C0010964		Dandy-Walker cyst|Dandy-walker anomaly	http://purl.obolibrary.org/obo/HP_0001305	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	biolink:PhenotypicFeature	hp	MSH:D005207|SNOMEDCT_US:249878001|UMLS:C0239548		Tongue twitching|Twitching of the tongue|Lingual fasciculations|Lingual fibrillations|Lingual twitching|Tongue fasciculation|Tongue fasciculations/fibrillations	http://purl.obolibrary.org/obo/HP_0001308	Fasciculations or fibrillation affecting the tongue muscle.
HP:0001310	Dysmetria	biolink:PhenotypicFeature	hp	MSH:D002524|SNOMEDCT_US:32566006|UMLS:C0234162		Lack of coordination of movement|Abnormal finger chase test|Abnormal finger-nose-finger test	http://purl.obolibrary.org/obo/HP_0001310	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	biolink:PhenotypicFeature	hp	UMLS:C4021781		Neurophysiologic abnormalities|Neurophysiologic abnormality	http://purl.obolibrary.org/obo/HP_0001311	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	biolink:PhenotypicFeature	hp	UMLS:C3806961		Giant SEPS	http://purl.obolibrary.org/obo/HP_0001312	An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.
HP:0001315	Reduced tendon reflexes	biolink:PhenotypicFeature	hp	UMLS:C1866934		Absent or decreased deep tendon reflexes|Decreased deep tendon reflexes|Decreased tendon reflexes|Decreased to absent deep tendon reflexes|Decreased/absent deep tendon reflexes|Depressed tendon reflexes|Diminished deep tendon reflexes|Diminished or absent deep tendon reflexes|Diminished or absent tendon reflexes|Hypoactive to absent deep tendon reflexes|Impaired tendon reflexes|Reduced/absent deep tendon reflexes|Weak or absent deep tendon reflexes	http://purl.obolibrary.org/obo/HP_0001315	Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
HP:0001317	Abnormal cerebellum morphology	biolink:PhenotypicFeature	hp	UMLS:C0742038|UMLS:C1866129		Abnormality of the cerebellum|Cerebellar abnormalities|Cerebellar abnormality|Cerebellar anomaly|Cerebellar signs	http://purl.obolibrary.org/obo/HP_0001317	Any structural abnormality of the cerebellum.
HP:0001319	Neonatal hypotonia	biolink:PhenotypicFeature	hp	MSH:D009123|SNOMEDCT_US:205294008|UMLS:C2267233		Low muscle tone, in neonatal onset|Hypotonia, in neonatal onset|Hypotonia, neonatal|Congenital hypotonia	http://purl.obolibrary.org/obo/HP_0001319	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
HP:0001320	Cerebellar vermis hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1840379		Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis|Hypoplastic cerebellar vermis	http://purl.obolibrary.org/obo/HP_0001320	Underdevelopment of the vermis of cerebellum.
HP:0001321	Cerebellar hypoplasia	biolink:PhenotypicFeature	hp	MSH:C562568|SNOMEDCT_US:16026008|UMLS:C0266470		Small cerebellum|Underdeveloped cerebellum|Congenital cerebellar hypoplasia|Hypoplasia of cerebellum|Hypoplastic cerebellum	http://purl.obolibrary.org/obo/HP_0001321	Underdevelopment of the cerebellum.
HP:0001322	obsolete Brain very small	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001322	
HP:0001324	Muscle weakness	biolink:PhenotypicFeature	hp	MSH:D018908|SNOMEDCT_US:26544005|UMLS:C0151786		Muscle weakness|Muscular weakness	http://purl.obolibrary.org/obo/HP_0001324	Reduced strength of muscles.
HP:0001325	Hypoglycemic coma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:267384006|UMLS:C0020617		Coma caused by low blood sugar|Coma, hypoglycemic|Hypoglycaemic coma|Loss of consciousness due to hypoglycemia	http://purl.obolibrary.org/obo/HP_0001325	
HP:0001326	EEG with irregular generalized spike and wave complexes	biolink:PhenotypicFeature	hp	UMLS:C4025792		EEG with irregular generalised spike and wave complexes	http://purl.obolibrary.org/obo/HP_0001326	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	biolink:PhenotypicFeature	hp	UMLS:C4025791		Photomyoclonic seizures|Photically induced myoclonic seizure|Photomyoclonic seizure	http://purl.obolibrary.org/obo/HP_0001327	Generalised myoclonic seizure provoked by flashing or flickering light.
HP:0001328	Specific learning disability	biolink:PhenotypicFeature	hp	UMLS:C4025790			http://purl.obolibrary.org/obo/HP_0001328	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	biolink:PhenotypicFeature	hp	MSH:C535562|SNOMEDCT_US:253143001|UMLS:C0431371		Absence of septum pellucidum|Absence of the septum pellucidum|Agenesis of the septum pellucidum|Missing septum pellucidum	http://purl.obolibrary.org/obo/HP_0001331	Absence of the septum pellucidum.
HP:0001332	Dystonia	biolink:PhenotypicFeature	hp	MSH:D004421|UMLS:C0013421|UMLS:C4020871		Dystonic movements|Dystonic disease	http://purl.obolibrary.org/obo/HP_0001332	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	biolink:PhenotypicFeature	hp	MSH:D006849|SNOMEDCT_US:271569006|UMLS:C0009451			http://purl.obolibrary.org/obo/HP_0001334	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:229247004|UMLS:C0454455		Hand mirror movements|Mirror hand movements|Mirror movements	http://purl.obolibrary.org/obo/HP_0001335	Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.
HP:0001336	Myoclonus	biolink:PhenotypicFeature	hp	MSH:D009207|SNOMEDCT_US:127324008|SNOMEDCT_US:17450006|UMLS:C0027066|UMLS:C1854302		Jerking|Myoclonic jerks|Involuntary jerking movements	http://purl.obolibrary.org/obo/HP_0001336	Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
HP:0001337	Tremor	biolink:PhenotypicFeature	hp	MSH:D014202|SNOMEDCT_US:26079004|UMLS:C0040822		Tremor|Tremors	http://purl.obolibrary.org/obo/HP_0001337	An unintentional, oscillating to-and-fro muscle movement about a joint axis.
HP:0001338	Partial agenesis of the corpus callosum	biolink:PhenotypicFeature	hp	MSH:C536111|SNOMEDCT_US:253140003|UMLS:C0431368|UMLS:C1857278		Corpus callosum agenesis, partial|Partial agenesis of corpus callosum|Partial corpus callosum agenesis|Partial or complete agenesis of corpus callosum|Partial to complete agenesis of corpus callosum|Partial-total agenesis of corpus callosum|Partial or complete agenesis of the corpus callosum	http://purl.obolibrary.org/obo/HP_0001338	A partial failure of the development of the corpus callosum.
HP:0001339	Lissencephaly	biolink:PhenotypicFeature	hp	MSH:D054082|SNOMEDCT_US:204036008|UMLS:C0266463|UMLS:C1879312		Fewer or absent grooves in brain	http://purl.obolibrary.org/obo/HP_0001339	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	biolink:PhenotypicFeature	hp	UMLS:C3552824			http://purl.obolibrary.org/obo/HP_0001340	Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
HP:0001341	Olfactory lobe agenesis	biolink:PhenotypicFeature	hp	UMLS:C1855331		Olfactory lobe absence	http://purl.obolibrary.org/obo/HP_0001341	
HP:0001342	Cerebral hemorrhage	biolink:PhenotypicFeature	hp	MSH:D002543|MSH:D020300|SNOMEDCT_US:230706003|SNOMEDCT_US:274100004|UMLS:C0553692|UMLS:C2937358		Bleeding in brain|Cerebral haemorrhage|Intracerebral hemorrhage|Hemorrhagic stroke	http://purl.obolibrary.org/obo/HP_0001342	Hemorrhage into the parenchyma of the brain.
HP:0001343	Kernicterus	biolink:PhenotypicFeature	hp	MSH:D007647|SNOMEDCT_US:50143004|SNOMEDCT_US:74925009|UMLS:C0022610			http://purl.obolibrary.org/obo/HP_0001343	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	biolink:PhenotypicFeature	hp	UMLS:C0746940|UMLS:C1854882		Absent speech development|Lack of language development|Lack of speech|No speech development|No speech or language development|Nonverbal	http://purl.obolibrary.org/obo/HP_0001344	Complete lack of development of speech and language abilities.
HP:0001345	Psychotic mentation	biolink:PhenotypicFeature	hp	UMLS:C4025789			http://purl.obolibrary.org/obo/HP_0001345	
HP:0001347	Hyperreflexia	biolink:PhenotypicFeature	hp	MSH:D012021|SNOMEDCT_US:86854008|UMLS:C0151889		Increased reflexes|Increased deep tendon reflexes	http://purl.obolibrary.org/obo/HP_0001347	Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
HP:0001348	Brisk reflexes	biolink:PhenotypicFeature	hp	UMLS:C2673700		Brisk deep tendon reflexes	http://purl.obolibrary.org/obo/HP_0001348	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	biolink:PhenotypicFeature	hp	UMLS:C1836003	hposlim_core	Bilateral facial weakness|Facial paresis, bilateral	http://purl.obolibrary.org/obo/HP_0001349	Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
HP:0001350	Slurred speech	biolink:PhenotypicFeature	hp	SNOMEDCT_US:289195008|UMLS:C0234518		Slurred speech	http://purl.obolibrary.org/obo/HP_0001350	Abnormal coordination of muscles involved in speech.
HP:0001351	Jerk-locked premyoclonus spikes	biolink:PhenotypicFeature	hp	UMLS:C3552825			http://purl.obolibrary.org/obo/HP_0001351	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	biolink:PhenotypicFeature	hp	MSH:D058627|SNOMEDCT_US:19410003|UMLS:C0221355		Enlarged brain|Macrencephaly	http://purl.obolibrary.org/obo/HP_0001355	Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
HP:0001357	Plagiocephaly	biolink:PhenotypicFeature	hp	MSH:D049068|MSH:D059041|SNOMEDCT_US:21850008|SNOMEDCT_US:254024005|UMLS:C0265529|UMLS:C1450010|UMLS:C4072830|UMLS:C4280597|UMLS:C4280598|UMLS:C4280807	hposlim_core	Asymmetry of the posterior head|Asymmetry of the posterior skull|Rhomboid shaped head|Flat head syndrome|Flattening of skull|Rhomboid shaped skull|Flattening of head|Asymmetry of the posterior cranium|Flat head|Flattening of cranial vault|Flattening of cranium|Rhomboid shaped cranium|Deformational plagiocephaly|Positional plagiocephaly	http://purl.obolibrary.org/obo/HP_0001357	Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
HP:0001360	Holoprosencephaly	biolink:PhenotypicFeature	hp	Fyler:4338|MSH:D016142|SNOMEDCT_US:30915001|UMLS:C0079541		Single brain ventricle	http://purl.obolibrary.org/obo/HP_0001360	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	biolink:PhenotypicFeature	hp	UMLS:C4025788			http://purl.obolibrary.org/obo/HP_0001361	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	biolink:PhenotypicFeature	hp	UMLS:C4025787|UMLS:C4280595|UMLS:C4280596		Cranial defect|Skull defect|Calvarial defect	http://purl.obolibrary.org/obo/HP_0001362	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	biolink:PhenotypicFeature	hp	Fyler:4336|MSH:D003398|SNOMEDCT_US:57219006|UMLS:C0010278|UMLS:C0235942	hposlim_core	Deformity of the skull|Cranial suture synostosis|Craniosyostosis|Early fusion of cranial sutures|Premature closure of cranial sutures|Premature fontanel closure|Premature suture closure|Craniostenosis	http://purl.obolibrary.org/obo/HP_0001363	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	biolink:PhenotypicFeature	hp	MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408|UMLS:C0240083		Abnormal shape of joints|Abnormality of the joints|Anomaly of the joints|Joint disease	http://purl.obolibrary.org/obo/HP_0001367	An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
HP:0001369	Arthritis	biolink:PhenotypicFeature	hp	MSH:D001168|SNOMEDCT_US:3723001|UMLS:C0003864		Arthritis|Joint inflammation	http://purl.obolibrary.org/obo/HP_0001369	Inflammation of a joint.
HP:0001370	Rheumatoid arthritis	biolink:PhenotypicFeature	hp	MSH:D001172|SNOMEDCT_US:69896004|UMLS:C0003873		RA|Rheumatoid arthritis	http://purl.obolibrary.org/obo/HP_0001370	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	biolink:PhenotypicFeature	hp	MSH:D003286|SNOMEDCT_US:203598005|SNOMEDCT_US:385522000|SNOMEDCT_US:55033002|SNOMEDCT_US:57048009|SNOMEDCT_US:7890003|SNOMEDCT_US:88565003|UMLS:C0009917|UMLS:C0009918|UMLS:C0333068|UMLS:C1850530		Flexed joint that cannot be straightened|Contracture|Flexion contractures|Flexion contractures of joints|Joint contracture|Joint contractures|Contractures	http://purl.obolibrary.org/obo/HP_0001371	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	biolink:PhenotypicFeature	hp	MSH:D004204|SNOMEDCT_US:108367008|SNOMEDCT_US:87642003|UMLS:C0012691		Joint dislocation|Joint dislocations|Recurrent joint dislocations	http://purl.obolibrary.org/obo/HP_0001373	Displacement or malalignment of joints.
HP:0001374	Congenital hip dislocation	biolink:PhenotypicFeature	hp	MSH:D006618|SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555		Dislocated hip since birth|Congenital dislocation of the hip|Congenital dislocation of the hips|Congenital hip anomaly|Congenital hip dislocations	http://purl.obolibrary.org/obo/HP_0001374	
HP:0001376	Limitation of joint mobility	biolink:PhenotypicFeature	hp	UMLS:C1857108		Decreased joint mobility|Decreased mobility of joints|Limitation of joint mobility|Limited joint mobility|Limited joint motion	http://purl.obolibrary.org/obo/HP_0001376	A reduction in the freedom of movement of one or more joints.
HP:0001377	Limited elbow extension	biolink:PhenotypicFeature	hp	UMLS:C1867103	hposlim_core	Decreased elbow extension|Elbow limited extension|Limitation of elbow extension|Limited elbow extension|Limited extension at elbows|Limited forearm extension|Restricted elbow extension	http://purl.obolibrary.org/obo/HP_0001377	Limited ability to straighten the arm at the elbow joint.
HP:0001379	obsolete Degenerative joint disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001379	
HP:0001380	obsolete Ligamentous laxity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001380	
HP:0001382	Joint hypermobility	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298181000|UMLS:C1844820		Double-Jointed|Flexible joints|Increased mobility of joints|Extensible joints|Hyperextensible joints|Increased joint mobility|Joint hyperextensibility	http://purl.obolibrary.org/obo/HP_0001382	The ability of a joint to move beyond its normal range of motion.
HP:0001384	Abnormality of the hip joint	biolink:PhenotypicFeature	hp	UMLS:C4020870		Abnormality of the hip joint|Abnormality of the hip joints	http://purl.obolibrary.org/obo/HP_0001384	An abnormality of the hip joint.
HP:0001385	Hip dysplasia	biolink:PhenotypicFeature	hp	MSH:D006618|SNOMEDCT_US:48334007|SNOMEDCT_US:52781008|UMLS:C0019555		Abnormal formation of the hip|Congenital hip dysplasia	http://purl.obolibrary.org/obo/HP_0001385	The presence of developmental dysplasia of the hip.
HP:0001386	Joint swelling	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271771009|UMLS:C0152031		Joint swelling	http://purl.obolibrary.org/obo/HP_0001386	
HP:0001387	Joint stiffness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:84445001|UMLS:C0162298		Joint stiffness|Stiff joint|Stiff joints	http://purl.obolibrary.org/obo/HP_0001387	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	biolink:PhenotypicFeature	hp	MSH:D007593|SNOMEDCT_US:27911000|SNOMEDCT_US:298203008|UMLS:C0086437|UMLS:C0158359		Joint instability|Lax joints|Loose-jointedness|Loosejointedness|Hyperlaxity|Joint ligamentous laxity|Ligamentous laxity	http://purl.obolibrary.org/obo/HP_0001388	Lack of stability of a joint.
HP:0001392	Abnormality of the liver	biolink:PhenotypicFeature	hp	MSH:D008107|SNOMEDCT_US:235856003|UMLS:C0023895|UMLS:C4021780		Abnormal liver|Abnormality of the liver|Liver abnormality|Liver disease	http://purl.obolibrary.org/obo/HP_0001392	An abnormality of the liver.
HP:0001394	Cirrhosis	biolink:PhenotypicFeature	hp	MSH:D008103|SNOMEDCT_US:19943007|UMLS:C0023890		Scar tissue replaces healthy tissue in the liver|Hepatic cirrhosis|Liver cirrhosis	http://purl.obolibrary.org/obo/HP_0001394	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	biolink:PhenotypicFeature	hp	MSH:D008103|SNOMEDCT_US:62484002|UMLS:C0239946		Liver fibrosis	http://purl.obolibrary.org/obo/HP_0001395	The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
HP:0001396	Cholestasis	biolink:PhenotypicFeature	hp	MSH:D002779|SNOMEDCT_US:197446008|SNOMEDCT_US:30144000|SNOMEDCT_US:33688009|UMLS:C0008370		Slowed or blocked flow of bile from liver	http://purl.obolibrary.org/obo/HP_0001396	Impairment of bile flow due to obstruction in bile ducts.
HP:0001397	Hepatic steatosis	biolink:PhenotypicFeature	hp	MSH:D005234|SNOMEDCT_US:197321007|SNOMEDCT_US:442191002|UMLS:C2711227		Fatty infiltration of liver|Fatty liver|Liver steatosis|Steatosis	http://purl.obolibrary.org/obo/HP_0001397	Steatosis is a term used to denote lipid accumulation within hepatocytes.
HP:0001399	Hepatic failure	biolink:PhenotypicFeature	hp	MSH:D017093|SNOMEDCT_US:59927004|UMLS:C0085605		Liver failure	http://purl.obolibrary.org/obo/HP_0001399	
HP:0001400	obsolete Hepatic abscesses due to immunodeficiency	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001400	
HP:0001401	Intrahepatic biliary dysgenesis	biolink:PhenotypicFeature	hp	UMLS:C1859235			http://purl.obolibrary.org/obo/HP_0001401	
HP:0001402	Hepatocellular carcinoma	biolink:PhenotypicFeature	hp	MSH:D006528|NCIT:C3099|SNOMEDCT_US:109841003|SNOMEDCT_US:187769009|SNOMEDCT_US:25370001|UMLS:C1862761|UMLS:C1867955|UMLS:C2239176		Increased hepatocellular carcinoma risk|Increased incidence of hepatocellular carcinoma	http://purl.obolibrary.org/obo/HP_0001402	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	biolink:PhenotypicFeature	hp	UMLS:C1837256		Macrovesicular steatosis	http://purl.obolibrary.org/obo/HP_0001403	A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.
HP:0001404	Hepatocellular necrosis	biolink:PhenotypicFeature	hp	UMLS:C1855038		Death of liver cells|Hepatocellular loss	http://purl.obolibrary.org/obo/HP_0001404	
HP:0001405	Periportal fibrosis	biolink:PhenotypicFeature	hp	UMLS:C1849766			http://purl.obolibrary.org/obo/HP_0001405	The presence of fibrosis affecting the interlobular stroma of liver.
HP:0001406	Intrahepatic cholestasis	biolink:PhenotypicFeature	hp	MSH:D002780|SNOMEDCT_US:4637005|UMLS:C0008372		Impaired release of bile from liver	http://purl.obolibrary.org/obo/HP_0001406	Impairment of bile flow due to obstruction in the small bile ducts within the liver.
HP:0001407	Hepatic cysts	biolink:PhenotypicFeature	hp	SNOMEDCT_US:85057007|UMLS:C0267834		Liver cysts	http://purl.obolibrary.org/obo/HP_0001407	
HP:0001408	Bile duct proliferation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20239009|UMLS:C0267818		Proliferation of bile canaliculi	http://purl.obolibrary.org/obo/HP_0001408	Proliferative changes of the bile ducts.
HP:0001409	Portal hypertension	biolink:PhenotypicFeature	hp	MSH:D006975|SNOMEDCT_US:34742003|UMLS:C0020541			http://purl.obolibrary.org/obo/HP_0001409	Increased pressure in the portal vein.
HP:0001410	Decreased liver function	biolink:PhenotypicFeature	hp	MSH:D008107|SNOMEDCT_US:75183008|SNOMEDCT_US:77981007|UMLS:C0086565|UMLS:C0232744|UMLS:C3279149		Decreased liver function|Liver dysfunction|Liver dysfunction, mild|Hepatopathy	http://purl.obolibrary.org/obo/HP_0001410	Reduced ability of the liver to perform its functions.
HP:0001412	Enteroviral hepatitis	biolink:PhenotypicFeature	hp	UMLS:C1843995			http://purl.obolibrary.org/obo/HP_0001412	Inflammation of the liver due to infection with enterovirus.
HP:0001413	Micronodular cirrhosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21861000|UMLS:C0267812			http://purl.obolibrary.org/obo/HP_0001413	A type of cirrhosis characterized by the presence of small regenerative nodules.
HP:0001414	Microvesicular hepatic steatosis	biolink:PhenotypicFeature	hp	UMLS:C1850415		Microvesicular steatosis	http://purl.obolibrary.org/obo/HP_0001414	A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
HP:0001417	X-linked inheritance	biolink:PhenotypicFeature	hp	MSH:D050172|SNOMEDCT_US:263934009|UMLS:C0241764		X-linked|X-linked form	http://purl.obolibrary.org/obo/HP_0001417	A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
HP:0001419	X-linked recessive inheritance	biolink:PhenotypicFeature	hp	UMLS:C1845977		X-linked recessive	http://purl.obolibrary.org/obo/HP_0001419	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	biolink:PhenotypicFeature	hp	UMLS:C4025786		Abnormal hand muscles	http://purl.obolibrary.org/obo/HP_0001421	
HP:0001423	X-linked dominant inheritance	biolink:PhenotypicFeature	hp	UMLS:C1847879		X-linked dominant	http://purl.obolibrary.org/obo/HP_0001423	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:0001425	Heterogeneous	biolink:PhenotypicFeature	hp	MSH:D018740|UMLS:C0242960		Genetic heterogeneity|Heterogeneity	http://purl.obolibrary.org/obo/HP_0001425	
HP:0001426	Multifactorial inheritance	biolink:PhenotypicFeature	hp	MSH:D020412|UMLS:C0600599		Familial predisposition	http://purl.obolibrary.org/obo/HP_0001426	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	biolink:PhenotypicFeature	hp	MSH:D050259|UMLS:C0887941		Mitochondrial	http://purl.obolibrary.org/obo/HP_0001427	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124975008|UMLS:C0544886			http://purl.obolibrary.org/obo/HP_0001428	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	biolink:PhenotypicFeature	hp	UMLS:C4021779		Abnormal calf muscles|Abnormality of calf musculature	http://purl.obolibrary.org/obo/HP_0001430	
HP:0001433	Hepatosplenomegaly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:36760000|UMLS:C0019214		Enlarged liver and spleen	http://purl.obolibrary.org/obo/HP_0001433	Simultaneous enlargement of the liver and spleen.
HP:0001435	Abnormality of the shoulder girdle musculature	biolink:PhenotypicFeature	hp	UMLS:C4021778		Abnormality of shoulder musculature	http://purl.obolibrary.org/obo/HP_0001435	
HP:0001436	Abnormality of the foot musculature	biolink:PhenotypicFeature	hp	UMLS:C4025785		Abnormal foot muscles	http://purl.obolibrary.org/obo/HP_0001436	An anomaly of the musculature of foot.
HP:0001437	Abnormality of the musculature of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4025784			http://purl.obolibrary.org/obo/HP_0001437	
HP:0001438	Abnormal abdomen morphology	biolink:PhenotypicFeature	hp	UMLS:C4020869		Abnormality of abdomen structure|Abdomen abnormality|Abnormality of abdomen morphology|Abnormality of the abdomen	http://purl.obolibrary.org/obo/HP_0001438	A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
HP:0001440	Metatarsal synostosis	biolink:PhenotypicFeature	hp	UMLS:C1862697		Fusion of the long bones of the feet|Fusion of metatarsals|Synostosis involving metatarsal bones	http://purl.obolibrary.org/obo/HP_0001440	
HP:0001441	Abnormality of the musculature of the thigh	biolink:PhenotypicFeature	hp	UMLS:C4025783		Abnormal thigh muscles	http://purl.obolibrary.org/obo/HP_0001441	
HP:0001442	Somatic mosaicism	biolink:PhenotypicFeature	hp	UMLS:C1866227			http://purl.obolibrary.org/obo/HP_0001442	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	biolink:PhenotypicFeature	hp	UMLS:C4025782		Abnormality of glutes	http://purl.obolibrary.org/obo/HP_0001443	
HP:0001444	Autosomal dominant somatic cell mutation	biolink:PhenotypicFeature	hp	UMLS:C4025781			http://purl.obolibrary.org/obo/HP_0001444	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	biolink:PhenotypicFeature	hp	UMLS:C4025780			http://purl.obolibrary.org/obo/HP_0001445	
HP:0001446	Abnormality of the musculature of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025779		Abnormal upper limb muscles	http://purl.obolibrary.org/obo/HP_0001446	
HP:0001449	Duplication of metatarsal bones	biolink:PhenotypicFeature	hp	UMLS:C4025778		Duplication of long bones of foot	http://purl.obolibrary.org/obo/HP_0001449	
HP:0001450	Y-linked inheritance	biolink:PhenotypicFeature	hp	MSH:D050173|UMLS:C0814045			http://purl.obolibrary.org/obo/HP_0001450	A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
HP:0001452	Autosomal dominant contiguous gene syndrome	biolink:PhenotypicFeature	hp	UMLS:C4025777			http://purl.obolibrary.org/obo/HP_0001452	
HP:0001454	Abnormality of the upper arm	biolink:PhenotypicFeature	hp	UMLS:C4025776			http://purl.obolibrary.org/obo/HP_0001454	
HP:0001457	Abnormality of the musculature of the upper arm	biolink:PhenotypicFeature	hp	UMLS:C4025775			http://purl.obolibrary.org/obo/HP_0001457	
HP:0001459	1-3 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4025774		Webbed 1st-3rd toes	http://purl.obolibrary.org/obo/HP_0001459	Syndactyly with fusion of toes one to three.
HP:0001460	Aplasia/Hypoplasia involving the skeletal musculature	biolink:PhenotypicFeature	hp	UMLS:C4025773		Absent/small skeletal muscles|Absent/underdeveloped skeletal muscles	http://purl.obolibrary.org/obo/HP_0001460	Absence or underdevelopment of the musculature.
HP:0001464	Aplasia/Hypoplasia involving the shoulder musculature	biolink:PhenotypicFeature	hp	UMLS:C4025772		Absent/small shoulder muscles|Absent/underdeveloped shoulder muscles	http://purl.obolibrary.org/obo/HP_0001464	Absence or underdevelopment of the muscles of the shoulder.
HP:0001465	Amyotrophy involving the shoulder musculature	biolink:PhenotypicFeature	hp	UMLS:C4025771		Wasting of shoulder muscles|Shoulder muscle degeneration	http://purl.obolibrary.org/obo/HP_0001465	
HP:0001466	Contiguous gene syndrome	biolink:PhenotypicFeature	hp	UMLS:C1855496			http://purl.obolibrary.org/obo/HP_0001466	
HP:0001467	Aplasia/Hypoplasia involving the musculature of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025770		Absent/small upper limb muscles|Absent/underdeveloped upper limb muscles	http://purl.obolibrary.org/obo/HP_0001467	Absence or underdevelopment of the musculature of the upper limbs.
HP:0001468	Aplasia/Hypoplasia involving the musculature of the upper arm	biolink:PhenotypicFeature	hp	UMLS:C4025769		Absent/small upper arm muscles|Absent/underdeveloped upper arm muscles	http://purl.obolibrary.org/obo/HP_0001468	Absence or underdevelopment of the muscles of the upper arm.
HP:0001469	Abnormal morphology of the pelvis musculature	biolink:PhenotypicFeature	hp	UMLS:C4025768		Abnormality of the musculature of the pelvis	http://purl.obolibrary.org/obo/HP_0001469	
HP:0001470	Sex-limited autosomal dominant	biolink:PhenotypicFeature	hp	UMLS:C4025767			http://purl.obolibrary.org/obo/HP_0001470	
HP:0001471	Aplasia/Hypoplasia of the musculature of the pelvis	biolink:PhenotypicFeature	hp	UMLS:C4025766		Absent/small pelvis muscles|Absent/underdeveloped pelvis muscles	http://purl.obolibrary.org/obo/HP_0001471	
HP:0001472	obsolete Familial predisposition	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001472	
HP:0001473	Metatarsal osteolysis	biolink:PhenotypicFeature	hp	UMLS:C1854614		Osteolysis involving metatarsal bones	http://purl.obolibrary.org/obo/HP_0001473	Osteolysis involving metatarsal bones.
HP:0001474	Sclerotic scapulae	biolink:PhenotypicFeature	hp	UMLS:C1849263	hposlim_core		http://purl.obolibrary.org/obo/HP_0001474	Increased density of the bony tissue of the scapula.
HP:0001475	Male-limited autosomal dominant	biolink:PhenotypicFeature	hp	UMLS:C4025764			http://purl.obolibrary.org/obo/HP_0001475	
HP:0001476	Delayed closure of the anterior fontanelle	biolink:PhenotypicFeature	hp	SNOMEDCT_US:295091000119100|UMLS:C3840083|UMLS:C4072831		Delayed closure of the soft spot on the skull|Late closure of soft spot on the skull|Later than typical closing of soft spot of skull|Delayed closure anterior fontanel|Delayed closure of anterior fontanelle|Delayed closure of the bregma sutures|Late closure of anterior fontanelle|Late closure of large anterior fontanel|Late closure of the bregma sutures|Persistent anterior fontanelle	http://purl.obolibrary.org/obo/HP_0001476	A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
HP:0001477	Compensatory chin elevation	biolink:PhenotypicFeature	hp	UMLS:C1846911		Compensatory head tilt/chin elevation	http://purl.obolibrary.org/obo/HP_0001477	A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.
HP:0001480	Freckling	biolink:PhenotypicFeature	hp	MSH:D008548|SNOMEDCT_US:403536009|SNOMEDCT_US:699225003|UMLS:C0016689		Freckling	http://purl.obolibrary.org/obo/HP_0001480	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95325000|UMLS:C0151811|UMLS:C0746926	hposlim_core	Nodule below the skin|Firm lump under the skin|Growth of abnormal tissue under the skin|Subcutaneous nodules|Multiple, subcutaneous nodules	http://purl.obolibrary.org/obo/HP_0001482	Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
HP:0001483	Eye poking	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78894008|UMLS:C0233593			http://purl.obolibrary.org/obo/HP_0001483	Repetitive pressing, poking, and/or rubbing in the eyes.
HP:0001487	obsolete Hypopigmented fundi	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001487	
HP:0001488	Bilateral ptosis	biolink:PhenotypicFeature	hp	UMLS:C1865916		Drooping of both upper eyelids	http://purl.obolibrary.org/obo/HP_0001488	
HP:0001489	Posterior vitreous detachment	biolink:PhenotypicFeature	hp	MSH:D020255|SNOMEDCT_US:247081001|UMLS:C0423361		Vitreous detachment	http://purl.obolibrary.org/obo/HP_0001489	Separation of the vitreous humor from the retina.
HP:0001491	Congenital fibrosis of extraocular muscles	biolink:PhenotypicFeature	hp	MSH:C580012|SNOMEDCT_US:400946004|UMLS:C1302995	hposlim_core	CFEOM|Congenital fibrosis of the extraocular muscles|Congenital ophthalmoplegia	http://purl.obolibrary.org/obo/HP_0001491	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	biolink:PhenotypicFeature	hp	MSH:C535679|SNOMEDCT_US:204152008|UMLS:C0266548	hposlim_core		http://purl.obolibrary.org/obo/HP_0001492	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204181009|UMLS:C0344550		Congenital retinal fold	http://purl.obolibrary.org/obo/HP_0001493	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	biolink:PhenotypicFeature	hp	UMLS:C1833734	hposlim_core	Carpal bone osteolysis	http://purl.obolibrary.org/obo/HP_0001495	Osteolysis affecting carpal bones.
HP:0001498	Carpal bone hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1863749|UMLS:C4280594	hposlim_core	Small wrist bones|Small carpal bones|Small carpals|Hypoplasia of carpal bones|Hypoplastic carpal bones	http://purl.obolibrary.org/obo/HP_0001498	Underdevelopment of one or more carpal bones.
HP:0001500	Broad finger	biolink:PhenotypicFeature	hp	UMLS:C1844906	hposlim_core	Broad finger|Broad fingers|Wide fingers	http://purl.obolibrary.org/obo/HP_0001500	Increased width of a non-thumb digit of the hand.
HP:0001501	6 metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1861360		6 long bones of hand	http://purl.obolibrary.org/obo/HP_0001501	
HP:0001504	Metacarpal osteolysis	biolink:PhenotypicFeature	hp	UMLS:C1854610		Metacarpals osteolysis	http://purl.obolibrary.org/obo/HP_0001504	
HP:0001507	Growth abnormality	biolink:PhenotypicFeature	hp	UMLS:C0262361		Abnormal growth|Growth abnormality|Growth issue	http://purl.obolibrary.org/obo/HP_0001507	
HP:0001508	Failure to thrive	biolink:PhenotypicFeature	hp	SNOMEDCT_US:36440009|SNOMEDCT_US:432788009|UMLS:C0231246|UMLS:C2315100		Undergrowth|Faltering weight|Weight faltering|Poor weight gain|Postnatal failure to thrive	http://purl.obolibrary.org/obo/HP_0001508	Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
HP:0001510	Growth delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276617005|SNOMEDCT_US:444896005|SNOMEDCT_US:59576002|UMLS:C0151686|UMLS:C0456070|UMLS:C0878787|UMLS:C1837385|UMLS:C3552463		Delayed growth|Growth deficiency|Growth delay|Growth failure|Growth retardation|Poor growth|Retarded growth|Very poor growth	http://purl.obolibrary.org/obo/HP_0001510	A deficiency or slowing down of growth pre- and postnatally.
HP:0001511	Intrauterine growth retardation	biolink:PhenotypicFeature	hp	MSH:D005317|MSH:D007236|SNOMEDCT_US:199612005|SNOMEDCT_US:22033007|UMLS:C0015934|UMLS:C0021296|UMLS:C1386048		IUGR|Prenatal growth deficiency|Prenatal growth retardation|In utero growth retardation|Intrauterine growth failure|Intrauterine growth restriction|Intrauterine growth retardation, IUGR|Intrauterine retardation|Prenatal growth failure|Prenatal onset growth retardation|Prenatal-onset growth retardation|Small for gestational age infant	http://purl.obolibrary.org/obo/HP_0001511	An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
HP:0001513	Obesity	biolink:PhenotypicFeature	hp	MSH:D009765|SNOMEDCT_US:414915002|SNOMEDCT_US:414916001|UMLS:C0028754		Having too much body fat|Obesity	http://purl.obolibrary.org/obo/HP_0001513	Accumulation of substantial excess body fat.
HP:0001518	Small for gestational age	biolink:PhenotypicFeature	hp	MSH:D007230|SNOMEDCT_US:267258002|SNOMEDCT_US:276610007|UMLS:C0024032|UMLS:C0235991		Birth weight less than 10th percentile|Low birth weight|Small for gestational age	http://purl.obolibrary.org/obo/HP_0001518	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	biolink:PhenotypicFeature	hp	MSH:D054119|SNOMEDCT_US:62250003|UMLS:C0003706|UMLS:C1836996		Dolichostenomelia|Marfanoid body habitus|Marfanoid habitus|Reduced upper-lower segment ratio	http://purl.obolibrary.org/obo/HP_0001519	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	biolink:PhenotypicFeature	hp	UMLS:C1848395		Birth weight > 90th percentile|Birthweight > 90th percentile|Fetal macrosomia|Macrosomia|Macrosomia, neonatal	http://purl.obolibrary.org/obo/HP_0001520	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	biolink:PhenotypicFeature	hp	UMLS:C1844947|UMLS:C1858430		Death in infancy|Infantile death|Lethal in infancy|Death in early childhood	http://purl.obolibrary.org/obo/HP_0001522	Death within the first 24 months of life.
HP:0001525	Severe failure to thrive	biolink:PhenotypicFeature	hp	UMLS:C1855514		Severe faltering weight|Severe weight faltering|Marked failure to thrive|Severe postnatal failure to thrive	http://purl.obolibrary.org/obo/HP_0001525	
HP:0001528	Hemihypertrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205838004|SNOMEDCT_US:56007004|UMLS:C0332890		Asymmetric overgrowth|Asymmetric limb hypertrophy	http://purl.obolibrary.org/obo/HP_0001528	Overgrowth of only one side of the body.
HP:0001530	Mild postnatal growth retardation	biolink:PhenotypicFeature	hp	UMLS:C1835580|UMLS:C3550204		Mild growth deficiency|Postnatal onset of mild growth retardation	http://purl.obolibrary.org/obo/HP_0001530	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	biolink:PhenotypicFeature	hp	UMLS:C1867873		Faltering weight in infancy|Weight faltering in infancy|Failure to thrive in first year of life	http://purl.obolibrary.org/obo/HP_0001531	
HP:0001533	Slender build	biolink:PhenotypicFeature	hp	UMLS:C1850573		Slender build|Thin build|Asthenic habitus|Thin body habitus	http://purl.obolibrary.org/obo/HP_0001533	Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
HP:0001537	Umbilical hernia	biolink:PhenotypicFeature	hp	Fyler:4445|SNOMEDCT_US:396347007|UMLS:C0019322	hposlim_core	Umbilical hernias	http://purl.obolibrary.org/obo/HP_0001537	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	biolink:PhenotypicFeature	hp	UMLS:C1854928		Belly sticks out|Extended belly|Abdominal protuberance	http://purl.obolibrary.org/obo/HP_0001538	A thrusting or bulging out of the abdomen.
HP:0001539	Omphalocele	biolink:PhenotypicFeature	hp	Fyler:4404|MEDDRA:10030309|MSH:D006554|SNOMEDCT_US:18735004|UMLS:C0795690	hposlim_core	Omphalocoele	http://purl.obolibrary.org/obo/HP_0001539	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62629000|UMLS:C0221766	hposlim_core	Gap between large left and right abdominal muscles	http://purl.obolibrary.org/obo/HP_0001540	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	biolink:PhenotypicFeature	hp	MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962	hposlim_core	Accumulation of fluid in the abdomen	http://purl.obolibrary.org/obo/HP_0001541	Accumulation of fluid in the peritoneal cavity.
HP:0001543	Gastroschisis	biolink:PhenotypicFeature	hp	MEDDRA:10018046|MSH:D020139|SNOMEDCT_US:72951007|UMLS:C0265706	hposlim_core		http://purl.obolibrary.org/obo/HP_0001543	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	biolink:PhenotypicFeature	hp	UMLS:C1837795		Prominent belly button|Prominent navel	http://purl.obolibrary.org/obo/HP_0001544	Abnormally prominent umbilicus (belly button).
HP:0001545	Anteriorly placed anus	biolink:PhenotypicFeature	hp	UMLS:C1838705	hposlim_core	Anteriorly displaced anus|Anus anteposition	http://purl.obolibrary.org/obo/HP_0001545	Anterior malposition of the anus.
HP:0001547	Abnormal rib cage morphology	biolink:PhenotypicFeature	hp	UMLS:C4025763		Abnormality of the rib cage	http://purl.obolibrary.org/obo/HP_0001547	A morphological anomaly of the rib cage.
HP:0001548	Overgrowth	biolink:PhenotypicFeature	hp	UMLS:C1849265|UMLS:C1851731|UMLS:C3150281		General overgrowth|Generalized overgrowth	http://purl.obolibrary.org/obo/HP_0001548	Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
HP:0001549	Abnormal ileum morphology	biolink:PhenotypicFeature	hp	UMLS:C4025762		Abnormality of the ileum	http://purl.obolibrary.org/obo/HP_0001549	
HP:0001551	Abnormal umbilicus morphology	biolink:PhenotypicFeature	hp	UMLS:C1849338		Abnormal belly button|Abnormal navel|Abnormal umbilicus	http://purl.obolibrary.org/obo/HP_0001551	An abnormality of the structure or appearance of the umbilicus.
HP:0001552	Barrel-shaped chest	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24228002|UMLS:C0264172	hposlim_core	Barrel chest|Barrel-shaped chest	http://purl.obolibrary.org/obo/HP_0001552	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	biolink:PhenotypicFeature	hp	UMLS:C1858033	hposlim_core	Asymmetric chest	http://purl.obolibrary.org/obo/HP_0001555	Lack of symmetry between the left and right halves of the thorax.
HP:0001557	Prenatal movement abnormality	biolink:PhenotypicFeature	hp	UMLS:C1849510		Abnormal intrauterine movements	http://purl.obolibrary.org/obo/HP_0001557	An abnormality of fetal movement.
HP:0001558	Decreased fetal movement	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276369006|UMLS:C0235659		Less than 10 fetal movements in 12 hours|Decreased foetal movement|Decreased fetal activity|Decreased fetal movements|Decreased movement in utero|Fetal hypokinesia|Reduced fetal movement|Reduced fetal movements	http://purl.obolibrary.org/obo/HP_0001558	An abnormal reduction in quantity or strength of fetal movements.
HP:0001560	Abnormality of the amniotic fluid	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42170009|UMLS:C0266781		Abnormal amniotic fluid	http://purl.obolibrary.org/obo/HP_0001560	Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.
HP:0001561	Polyhydramnios	biolink:PhenotypicFeature	hp	MSH:D006831|SNOMEDCT_US:86203003|UMLS:C0020224		High levels of amniotic fluid|Hydramnios	http://purl.obolibrary.org/obo/HP_0001561	The presence of excess amniotic fluid in the uterus during pregnancy.
HP:0001562	Oligohydramnios	biolink:PhenotypicFeature	hp	MSH:D016104|SNOMEDCT_US:59566000|UMLS:C0079924|UMLS:C3550658		Low levels of amniotic fluid|Maternal oligohydramnios	http://purl.obolibrary.org/obo/HP_0001562	Diminished amniotic fluid volume in pregnancy.
HP:0001563	Fetal polyuria	biolink:PhenotypicFeature	hp	UMLS:C1865279		Foetal polyuria	http://purl.obolibrary.org/obo/HP_0001563	Abnormally increased production of urine by the fetus resulting in polyhydramnios.
HP:0001566	Widely-spaced maxillary central incisors	biolink:PhenotypicFeature	hp	UMLS:C1835762|UMLS:C1845110|UMLS:C4280252		Central incisor gap|Gap between upper front teeth|Wide gap between upper central incisors|Widely spaced upper incisors|Diastasis of the central incisors|Separated superior central incisors|Wide upper central incisors|Diastema between maxillary central incisors|Diastema between upper front teeth|Diastema between upper incisors	http://purl.obolibrary.org/obo/HP_0001566	Increased distance between the maxillary central permanent incisor tooth.
HP:0001571	Multiple impacted teeth	biolink:PhenotypicFeature	hp	UMLS:C1839965|UMLS:C4280593		Multiple buried teeth|Impacted teeth|Multiple impacted teeth|Multiple retained teeth	http://purl.obolibrary.org/obo/HP_0001571	The presence of multiple impacted teeth.
HP:0001572	Macrodontia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71485000|UMLS:C0266036|UMLS:C4280590|UMLS:C4280591|UMLS:C4280592	hposlim_core	Increased size of tooth|Large tooth|Increased width of tooth|Tooth mass excess|Hyperplasia of tooth|Hypertrophy of tooth|Large teeth	http://purl.obolibrary.org/obo/HP_0001572	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	biolink:PhenotypicFeature	hp	UMLS:C4025761			http://purl.obolibrary.org/obo/HP_0001574	An abnormality of the integument, which consists of the skin and the superficial fascia.
HP:0001575	Mood changes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18963009|UMLS:C0085633		Moody|Mood alterations	http://purl.obolibrary.org/obo/HP_0001575	
HP:0001579	Primary hypercortisolism	biolink:PhenotypicFeature	hp	UMLS:C1968852|UMLS:C4025760		ACTH-independent hypercortisolemia	http://purl.obolibrary.org/obo/HP_0001579	Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
HP:0001580	Pigmented micronodular adrenocortical disease	biolink:PhenotypicFeature	hp	UMLS:C1968851			http://purl.obolibrary.org/obo/HP_0001580	
HP:0001581	Recurrent skin infections	biolink:PhenotypicFeature	hp	UMLS:C1853193		Recurrent skin infections|Skin infections, recurrent|Cutaneous infections	http://purl.obolibrary.org/obo/HP_0001581	Infections of the skin that happen multiple times.
HP:0001582	Redundant skin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:201093004|UMLS:C0581342		Loose redundant skin|Redundant skin folds|Sagging, redundant skin	http://purl.obolibrary.org/obo/HP_0001582	Loose and sagging skin often associated with loss of skin elasticity.
HP:0001583	Rotary nystagmus	biolink:PhenotypicFeature	hp	MSH:D009759|SNOMEDCT_US:44526006|SNOMEDCT_US:95783006|UMLS:C0240595	hposlim_core	Rotatory Nystagmus	http://purl.obolibrary.org/obo/HP_0001583	A form of nystagmus in which the eyeball makes rotary motions around the axis.
HP:0001586	Vesicovaginal fistula	biolink:PhenotypicFeature	hp	MSH:D014719|SNOMEDCT_US:89405008|UMLS:C0042582			http://purl.obolibrary.org/obo/HP_0001586	The presence of a fistula connecting the urinary bladder to the vagina.
HP:0001587	obsolete Primary ovarian failure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001587	
HP:0001591	Bell-shaped thorax	biolink:PhenotypicFeature	hp	UMLS:C1865186	hposlim_core	Bell-shaped chest|Constricted, bell-shaped thorax|Narrow, bell-shaped thorax	http://purl.obolibrary.org/obo/HP_0001591	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	biolink:PhenotypicFeature	hp	UMLS:C1970308|UMLS:C4280251		Absence of a tooth|Missing a tooth|Agenesis of a tooth|Failure of development of a tooth	http://purl.obolibrary.org/obo/HP_0001592	Agenesis specifically affecting one of the classes incisor, premolar, or molar.
HP:0001593	Maxillary lateral incisor microdontia	biolink:PhenotypicFeature	hp	UMLS:C1845111|UMLS:C4280588|UMLS:C4280589		Decreased size of maxillary lateral incisor|Decreased size of upper lateral incisor|Hypotrophic maxillary lateral incisor|Hypotrophic upper lateral incisor|Small maxillary lateral incisor|Small upper lateral incisor|Decreased width of upper lateral incisor	http://purl.obolibrary.org/obo/HP_0001593	Decreased size of the maxillary permanent incisor.
HP:0001595	Abnormal hair morphology	biolink:PhenotypicFeature	hp	UMLS:C0157733|UMLS:C2677869	hposlim_core	Abnormality of the hair|Hair abnormality|Abnormality of the hair shaft	http://purl.obolibrary.org/obo/HP_0001595	An abnormality of the hair.
HP:0001596	Alopecia	biolink:PhenotypicFeature	hp	MEDDRA:10001760|MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:56317004|UMLS:C0002170	hposlim_core	Hair loss	http://purl.obolibrary.org/obo/HP_0001596	A noncongenital process of hair loss, which may progress to partial or complete baldness.
HP:0001597	Abnormality of the nail	biolink:PhenotypicFeature	hp	MSH:D009260|MSH:D009264|SNOMEDCT_US:17790008|UMLS:C0027339|UMLS:C0853087		Abnormality of the nail|Nail disease	http://purl.obolibrary.org/obo/HP_0001597	Abnormality of the nail.
HP:0001598	Concave nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66270006|UMLS:C0221261	hposlim_core	Spoon-shaped nails|Koilonychia	http://purl.obolibrary.org/obo/HP_0001598	The natural longitudinal (posterodistal) convex arch is not present or is inverted.
HP:0001600	Abnormality of the larynx	biolink:PhenotypicFeature	hp	UMLS:C4021777		Laryngeal abnormalities|Laryngeal anomalies	http://purl.obolibrary.org/obo/HP_0001600	An abnormality of the larynx.
HP:0001601	Laryngomalacia	biolink:PhenotypicFeature	hp	MSH:D055092|SNOMEDCT_US:38086007|UMLS:C0264303		Softening of voice box tissue	http://purl.obolibrary.org/obo/HP_0001601	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	biolink:PhenotypicFeature	hp	MSH:D007829|SNOMEDCT_US:75547007|UMLS:C0023075			http://purl.obolibrary.org/obo/HP_0001602	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	biolink:PhenotypicFeature	hp	MSH:D014826|SNOMEDCT_US:302912005|SNOMEDCT_US:445424004|UMLS:C0751576|UMLS:C1832690|UMLS:C1843187|UMLS:C1853729		Weakness of the vocal cords|Hoarse voice due to vocal cord paresis|Vocal cord paresis in severe cases	http://purl.obolibrary.org/obo/HP_0001604	Decreased strength of the vocal folds.
HP:0001605	Vocal cord paralysis	biolink:PhenotypicFeature	hp	MSH:D014826|SNOMEDCT_US:302912005|UMLS:C0042928|UMLS:C1854345		Inability to move vocal cords|Laryngeal paralysis	http://purl.obolibrary.org/obo/HP_0001605	A loss of the ability to move the vocal folds.
HP:0001606	obsolete Vocal cord paralysis (caused by tumor impingement)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001606	
HP:0001607	Subglottic stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22668006|UMLS:C0238441			http://purl.obolibrary.org/obo/HP_0001607	
HP:0001608	Abnormality of the voice	biolink:PhenotypicFeature	hp	UMLS:C4021776		Abnormality of the voice|Voice abnormality	http://purl.obolibrary.org/obo/HP_0001608	
HP:0001609	Hoarse voice	biolink:PhenotypicFeature	hp	MSH:D006685|SNOMEDCT_US:50219008|UMLS:C0019825|UMLS:C1854348		Hoarse voice|Hoarseness|Husky voice	http://purl.obolibrary.org/obo/HP_0001609	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	Nasal speech	biolink:PhenotypicFeature	hp	SNOMEDCT_US:229645001|SNOMEDCT_US:289190003|UMLS:C0454555|UMLS:C0566620		Nasal speech|Nasal voice|Hypernasal speech|Hypernasal voice	http://purl.obolibrary.org/obo/HP_0001611	A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.
HP:0001612	Weak cry	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2120003|UMLS:C0234860			http://purl.obolibrary.org/obo/HP_0001612	
HP:0001613	obsolete Hoarse voice (caused by tumor impingement)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001613	
HP:0001615	Hoarse cry	biolink:PhenotypicFeature	hp	UMLS:C2678303		Hoarse cry	http://purl.obolibrary.org/obo/HP_0001615	
HP:0001618	Dysphonia	biolink:PhenotypicFeature	hp	MSH:D055154|SNOMEDCT_US:47004009|UMLS:C1527344		Inability to produce voice sounds	http://purl.obolibrary.org/obo/HP_0001618	An impairment in the ability to produce voice sounds.
HP:0001620	High pitched voice	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51406002|UMLS:C0241703		High pitched voice|High-pitched voice	http://purl.obolibrary.org/obo/HP_0001620	An abnormal increase in the pitch (frequency) of the voice.
HP:0001621	Weak voice	biolink:PhenotypicFeature	hp	MSH:D014832|SNOMEDCT_US:34527004|SNOMEDCT_US:8614008|UMLS:C0241700|UMLS:C0521007		Soft voice|Weak voice|Hypophonia	http://purl.obolibrary.org/obo/HP_0001621	Reduced intensity (volume) of speech.
HP:0001622	Premature birth	biolink:PhenotypicFeature	hp	MSH:D047928|SNOMEDCT_US:282020008|SNOMEDCT_US:367494004|SNOMEDCT_US:49550006|UMLS:C0151526|UMLS:C0233315		Premature birth|Premature delivery of affected infants|Preterm delivery|Premature delivery|Shortened gestation time	http://purl.obolibrary.org/obo/HP_0001622	The birth of a baby of less than 37 weeks of gestational age.
HP:0001623	Breech presentation	biolink:PhenotypicFeature	hp	MSH:D001946|SNOMEDCT_US:249101006|SNOMEDCT_US:6096002|UMLS:C0006157		Feet or buttocks of fetus positioned near opening of uterus|Breech presentation at birth	http://purl.obolibrary.org/obo/HP_0001623	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	biolink:PhenotypicFeature	hp	MSH:D002318|MSH:D018376|SNOMEDCT_US:49601007|UMLS:C0007222|UMLS:C0243050		Abnormality of the cardiovascular system|Cardiovascular abnormality|Cardiovascular disease	http://purl.obolibrary.org/obo/HP_0001626	Any abnormality of the cardiovascular system.
HP:0001627	Abnormal heart morphology	biolink:PhenotypicFeature	hp	MSH:D006330|SNOMEDCT_US:13213009|UMLS:C0018798|UMLS:C0152021		Abnormality of the heart|Abnormally shaped heart|Heart defect|Abnormality of cardiac morphology|Cardiac abnormality|Cardiac anomalies|Cardiac anomaly|Congenital heart defect|Congenital heart defects	http://purl.obolibrary.org/obo/HP_0001627	Any structural anomaly of the heart.
HP:0001629	Ventricular septal defect	biolink:PhenotypicFeature	hp	Fyler:1300|MSH:D006345|SNOMEDCT_US:253549006|SNOMEDCT_US:30288003|UMLS:C0018818		VSD|Hole in heart wall separating two lower heart chambers|Ventricular septal defects|Ventriculoseptal defect	http://purl.obolibrary.org/obo/HP_0001629	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	biolink:PhenotypicFeature	hp	Fyler:2050|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:253366007|SNOMEDCT_US:405752007|SNOMEDCT_US:70142008|UMLS:C0018817		ASD|An opening in the wall separating the top two chambers of the heart|Hole in heart wall separating two upper heart chambers|Atria septal defect|Atrial septum defect|Atrioseptal defect|Defect in the atrial septum	http://purl.obolibrary.org/obo/HP_0001631	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	biolink:PhenotypicFeature	hp	UMLS:C4025759		Abnormality of the mitral valve	http://purl.obolibrary.org/obo/HP_0001633	Any structural anomaly of the mitral valve.
HP:0001634	Mitral valve prolapse	biolink:PhenotypicFeature	hp	Fyler:1533|MSH:D008945|SNOMEDCT_US:409712001|SNOMEDCT_US:8074002|UMLS:C0026267			http://purl.obolibrary.org/obo/HP_0001634	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	biolink:PhenotypicFeature	hp	MSH:D006333|SNOMEDCT_US:42343007|SNOMEDCT_US:84114007|UMLS:C0018801|UMLS:C0018802		CHF|Cardiac failure|Cardiac failures|Heart failure|Cardiac insufficiency|Chronic heart failure	http://purl.obolibrary.org/obo/HP_0001635	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	biolink:PhenotypicFeature	hp	ICD-10:Q21.3|MSH:D013771|SNOMEDCT_US:86299006|UMLS:C0039685		Tetrology of fallot	http://purl.obolibrary.org/obo/HP_0001636	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	biolink:PhenotypicFeature	hp	UMLS:C4025758		Abnormality of the myocardium	http://purl.obolibrary.org/obo/HP_0001637	A structural anomaly of the muscle layer of the heart wall.
HP:0001638	Cardiomyopathy	biolink:PhenotypicFeature	hp	Fyler:1840|MSH:D009202|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001|UMLS:C0878544		Disease of the heart muscle	http://purl.obolibrary.org/obo/HP_0001638	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	biolink:PhenotypicFeature	hp	MSH:D002312|SNOMEDCT_US:233873004|SNOMEDCT_US:45227007|UMLS:C0007194		HCM|Enlarged and thickened heart muscle|Cardiomyopathy, hypertrophic	http://purl.obolibrary.org/obo/HP_0001639	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	biolink:PhenotypicFeature	hp	MSH:D006332|SNOMEDCT_US:8186001|UMLS:C0018800		Enlarged heart|Increased heart size	http://purl.obolibrary.org/obo/HP_0001640	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	biolink:PhenotypicFeature	hp	Fyler:1600|Fyler:1602|SNOMEDCT_US:448643005|UMLS:C3164374		Abnormality of the pulmonary valve|Anomaly of the pulmonary valve	http://purl.obolibrary.org/obo/HP_0001641	Any structural abnormality of the pulmonary valve.
HP:0001642	Pulmonic stenosis	biolink:PhenotypicFeature	hp	Fyler:1611|MSH:D011666|SNOMEDCT_US:56786000|UMLS:C1956257		Narrowing of pulmonic valve|Pulmonary stenosis|Pulmonary valve stenosis|Pulmonic valve stenosis	http://purl.obolibrary.org/obo/HP_0001642	A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
HP:0001643	Patent ductus arteriosus	biolink:PhenotypicFeature	hp	Fyler:2100|MSH:D004374|SNOMEDCT_US:83330001|UMLS:C0013274		PDA|Ductus arteriosus|Persistent arterial duct|Persistent ductus arteriosus	http://purl.obolibrary.org/obo/HP_0001643	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	biolink:PhenotypicFeature	hp	Fyler:1843|MSH:D002311|SNOMEDCT_US:195021004|SNOMEDCT_US:399020009|UMLS:C0007193		DCM|Stretched and thinned heart muscle|Cardiomyopathy, dilated|Congestive cardiomyopathy	http://purl.obolibrary.org/obo/HP_0001644	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	biolink:PhenotypicFeature	hp	MSH:D016757|SNOMEDCT_US:95281009|UMLS:C0085298		Premature sudden cardiac death|Sudden cardiac death	http://purl.obolibrary.org/obo/HP_0001645	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	biolink:PhenotypicFeature	hp	Fyler:1400|Fyler:1408|SNOMEDCT_US:448743001|UMLS:C3164445		Abnormality of the aortic valve	http://purl.obolibrary.org/obo/HP_0001646	Any abnormality of the aortic valve.
HP:0001647	Bicuspid aortic valve	biolink:PhenotypicFeature	hp	MSH:C562388|SNOMEDCT_US:72352009|UMLS:C0149630		Aortic valve has two leaflets rather than three	http://purl.obolibrary.org/obo/HP_0001647	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	biolink:PhenotypicFeature	hp	MSH:D011660|SNOMEDCT_US:274096000|SNOMEDCT_US:83291003|UMLS:C0034072			http://purl.obolibrary.org/obo/HP_0001648	Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
HP:0001649	Tachycardia	biolink:PhenotypicFeature	hp	MSH:D013610|SNOMEDCT_US:3424008|SNOMEDCT_US:86651002|UMLS:C0039231|UMLS:C4020868		Fast heart rate|Heart racing|Racing heart|Elevated heart rate|Increased heart rate|Rapid heart beat	http://purl.obolibrary.org/obo/HP_0001649	A rapid heartrate that exceeds the range of the normal resting heartrate for age.
HP:0001650	Aortic valve stenosis	biolink:PhenotypicFeature	hp	Fyler:1411|MSH:D001024|SNOMEDCT_US:60573004|UMLS:C0003507		Narrowing of aortic valve|Aortic stenosis|Valvular aortic stenosis	http://purl.obolibrary.org/obo/HP_0001650	The presence of a stenosis (narrowing) of the aortic valve.
HP:0001651	Dextrocardia	biolink:PhenotypicFeature	hp	EPCC:02.01.02|Fyler:0110|Fyler:110|ICD-10:Q24.0|MSH:D003914|SNOMEDCT_US:27637000|UMLS:C0011813		Heart tip and four chambers point towards right side of body|Thoracic situs inversus	http://purl.obolibrary.org/obo/HP_0001651	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	biolink:PhenotypicFeature	hp	Fyler:1151|MSH:D008944|SNOMEDCT_US:48724000|UMLS:C0026266|UMLS:C3551535		Mitral incompetence|Mitral insufficiency|Mitral valve insufficiency|Mitral valve regurgitation|Mitral regurgitation, mild	http://purl.obolibrary.org/obo/HP_0001653	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	biolink:PhenotypicFeature	hp	MSH:D006349|SNOMEDCT_US:368009|UMLS:C0018824|UMLS:C0241654		Abnormality of the heart valves|Valvular abnormality|Valvular heart disease	http://purl.obolibrary.org/obo/HP_0001654	Any structural abnormality of a cardiac valve.
HP:0001655	Patent foramen ovale	biolink:PhenotypicFeature	hp	Fyler:2020|ICD-10:Q21.1|MSH:D054092|SNOMEDCT_US:204317008|UMLS:C0016522		Persistent foramen ovale	http://purl.obolibrary.org/obo/HP_0001655	Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
HP:0001657	Prolonged QT interval	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111975006|UMLS:C0151878		Long QT syndrome|Prolong qt interval on ekg|Long Q-T syndrome	http://purl.obolibrary.org/obo/HP_0001657	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	biolink:PhenotypicFeature	hp	MSH:D009203|SNOMEDCT_US:22298006|UMLS:C0027051		MI|Heart attack	http://purl.obolibrary.org/obo/HP_0001658	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	biolink:PhenotypicFeature	hp	MSH:D001022|SNOMEDCT_US:60234000|UMLS:C0003504		Aortic insufficiency|Aortic valve regurgitation	http://purl.obolibrary.org/obo/HP_0001659	An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
HP:0001660	Truncus arteriosus	biolink:PhenotypicFeature	hp	Fyler:0500|Fyler:500|ICD-10:Q20.0|MSH:D014338|SNOMEDCT_US:58140002|UMLS:C0041206|UMLS:C4020867		Common arterial trunk|Persistant truncus arteriosus	http://purl.obolibrary.org/obo/HP_0001660	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	biolink:PhenotypicFeature	hp	MSH:D001919|SNOMEDCT_US:48867003|UMLS:C0428977		Slow heartbeats|Brachycardia	http://purl.obolibrary.org/obo/HP_0001662	A slower than normal heart rate (in adults, slower than 60 beats per minute).
HP:0001663	Ventricular fibrillation	biolink:PhenotypicFeature	hp	MSH:D014693|SNOMEDCT_US:71908006|UMLS:C0042510			http://purl.obolibrary.org/obo/HP_0001663	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	biolink:PhenotypicFeature	hp	MSH:D016171|SNOMEDCT_US:31722008|UMLS:C0040479		Torsades de pointes	http://purl.obolibrary.org/obo/HP_0001664	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	biolink:PhenotypicFeature	hp	Fyler:3609|MSH:D017380|SNOMEDCT_US:89792004|UMLS:C0162770		Heart right ventricle hypertrophy	http://purl.obolibrary.org/obo/HP_0001667	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741		Transposition of great vessels	http://purl.obolibrary.org/obo/HP_0001669	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	biolink:PhenotypicFeature	hp	UMLS:C0205700			http://purl.obolibrary.org/obo/HP_0001670	Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
HP:0001671	Abnormal cardiac septum morphology	biolink:PhenotypicFeature	hp	MSH:D006343|SNOMEDCT_US:253273004|SNOMEDCT_US:396351009|SNOMEDCT_US:59494005|UMLS:C0018816		Septal defects|Abnormality of the cardiac septa|Heart septal defect	http://purl.obolibrary.org/obo/HP_0001671	An anomaly of the intra-atrial or intraventricular septum.
HP:0001673	obsolete Tachycardia (with pheochromocytoma)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001673	
HP:0001674	Complete atrioventricular canal defect	biolink:PhenotypicFeature	hp	Fyler:1120		Atrioventricular canal|Common atrioventricular canal|Complete atrioventricular septal defect|Complete common AV canal	http://purl.obolibrary.org/obo/HP_0001674	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:0001675	obsolete Rhythm disturbances associated with pheochromocytoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001675	
HP:0001676	obsolete Palpitations (with pheochromocytoma)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001676	
HP:0001677	Coronary artery atherosclerosis	biolink:PhenotypicFeature	hp	MSH:D003324|SNOMEDCT_US:414024009|SNOMEDCT_US:53741008|UMLS:C1956346		Plaque build-up in arteries supplying blood to heart|Coronary atherosclerosis|Coronary disease	http://purl.obolibrary.org/obo/HP_0001677	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	biolink:PhenotypicFeature	hp	MSH:D054537|SNOMEDCT_US:233917008|UMLS:C0004245|UMLS:C1841659		Interruption of electrical communication between upper and lower chambers of heart|Atrioventricular nodal disease	http://purl.obolibrary.org/obo/HP_0001678	Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
HP:0001679	Abnormal aortic morphology	biolink:PhenotypicFeature	hp	Fyler:1453|UMLS:C4025756		Abnormal aorta morphology|Abnormality of the aorta	http://purl.obolibrary.org/obo/HP_0001679	An abnormality of the aorta.
HP:0001680	Coarctation of aorta	biolink:PhenotypicFeature	hp	MSH:D001017|SNOMEDCT_US:7305005|UMLS:C0003492		Narrowing of aorta|Narrowing of the aorta|Aortic coarctation|Coarctation of the aorta	http://purl.obolibrary.org/obo/HP_0001680	Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
HP:0001681	Angina pectoris	biolink:PhenotypicFeature	hp	MSH:D000787|SNOMEDCT_US:194828000|SNOMEDCT_US:225566008|UMLS:C0002962			http://purl.obolibrary.org/obo/HP_0001681	Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
HP:0001682	Subvalvular aortic stenosis	biolink:PhenotypicFeature	hp	MSH:D001020|SNOMEDCT_US:204368006|UMLS:C0340375		Narrowing of blood vessel below aortic heart valve|Subaortic stenosis	http://purl.obolibrary.org/obo/HP_0001682	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	biolink:PhenotypicFeature	hp	Fyler:0170|Fyler:170|MSH:D054083|SNOMEDCT_US:78250005|UMLS:C0013580			http://purl.obolibrary.org/obo/HP_0001683	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	biolink:PhenotypicFeature	hp	Fyler:2000|ICD-10:Q21.1|MSH:D006344|SNOMEDCT_US:204315000|UMLS:C0344724		Atrial septal defect, ostium secundum type|Ostium secundum atrial septal defect|Patent ostium secundum	http://purl.obolibrary.org/obo/HP_0001684	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	biolink:PhenotypicFeature	hp	UMLS:C0151654			http://purl.obolibrary.org/obo/HP_0001685	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	biolink:PhenotypicFeature	hp	MSH:D001044|SNOMEDCT_US:441913003|SNOMEDCT_US:44564008|UMLS:C0003564		Aphonia	http://purl.obolibrary.org/obo/HP_0001686	
HP:0001688	Sinus bradycardia	biolink:PhenotypicFeature	hp	Fyler:7013|SNOMEDCT_US:49710005|UMLS:C0085610			http://purl.obolibrary.org/obo/HP_0001688	Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
HP:0001691	Muscular subvalvular aortic stenosis	biolink:PhenotypicFeature	hp	UMLS:C3887554		Muscular subaortic stenosis	http://purl.obolibrary.org/obo/HP_0001691	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17366009|UMLS:C0085611|UMLS:C4025755		Primary atrial arrhythmia	http://purl.obolibrary.org/obo/HP_0001692	A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
HP:0001693	Cardiac shunt	biolink:PhenotypicFeature	hp	SNOMEDCT_US:442119001|UMLS:C0232180			http://purl.obolibrary.org/obo/HP_0001693	Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.
HP:0001694	Right-to-left shunt	biolink:PhenotypicFeature	hp	SNOMEDCT_US:79692001|UMLS:C0428871			http://purl.obolibrary.org/obo/HP_0001694	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	biolink:PhenotypicFeature	hp	MSH:D006323|SNOMEDCT_US:397829000|SNOMEDCT_US:410429000|UMLS:C0018790		Heart stops beating	http://purl.obolibrary.org/obo/HP_0001695	An abrupt loss of heart function.
HP:0001696	Situs inversus totalis	biolink:PhenotypicFeature	hp	Fyler:0100|Fyler:100|MSH:D012857|MSH:D059446|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|SNOMEDCT_US:27317008|SNOMEDCT_US:43876007|UMLS:C0037221|UMLS:C0266642		All organs on wrong side of body|situs oppositus|situs transversus|Situs inversus	http://purl.obolibrary.org/obo/HP_0001696	A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
HP:0001697	Abnormal pericardium morphology	biolink:PhenotypicFeature	hp	Fyler:1900|UMLS:C4025754		Abnormality of the pericardium	http://purl.obolibrary.org/obo/HP_0001697	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	biolink:PhenotypicFeature	hp	Fyler:1940|MSH:D010490|SNOMEDCT_US:373945007|UMLS:C0031039		Fluid around heart|Pericardial effusions	http://purl.obolibrary.org/obo/HP_0001698	Accumulation of fluid within the pericardium.
HP:0001699	Sudden death	biolink:PhenotypicFeature	hp	MSH:D003645|SNOMEDCT_US:26636000|UMLS:C0011071			http://purl.obolibrary.org/obo/HP_0001699	Rapid and unexpected death.
HP:0001700	Myocardial necrosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:251061000|UMLS:C1442837			http://purl.obolibrary.org/obo/HP_0001700	Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).
HP:0001701	Pericarditis	biolink:PhenotypicFeature	hp	MSH:D010493|SNOMEDCT_US:3238004|UMLS:C0031046		Swelling or irritation of membrane around heart	http://purl.obolibrary.org/obo/HP_0001701	Inflammation of the sac-like covering around the heart (pericardium).
HP:0001702	Abnormal tricuspid valve morphology	biolink:PhenotypicFeature	hp	EPCC:06.01.00|UMLS:C4025753		Abnormality of the tricuspid valve	http://purl.obolibrary.org/obo/HP_0001702	Any structural anomaly of the tricuspid valve.
HP:0001704	Tricuspid valve prolapse	biolink:PhenotypicFeature	hp	Fyler:1733|MSH:D014263|SNOMEDCT_US:253383003|UMLS:C0040962			http://purl.obolibrary.org/obo/HP_0001704	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	biolink:PhenotypicFeature	hp	MSH:D014694|UMLS:C0035619		Right ventricular outlet obstruction	http://purl.obolibrary.org/obo/HP_0001705	An obstruction to the forward flow of blood in the outflow tract of the right ventricle.
HP:0001706	Endocardial fibroelastosis	biolink:PhenotypicFeature	hp	MSH:D004695|SNOMEDCT_US:65457005|UMLS:C0014117			http://purl.obolibrary.org/obo/HP_0001706	Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
HP:0001707	Abnormal right ventricle morphology	biolink:PhenotypicFeature	hp	Fyler:1820|SNOMEDCT_US:253516002|UMLS:C0344887		Abnormality of the right ventricle|Right ventricular abnormality	http://purl.obolibrary.org/obo/HP_0001707	An abnormality of the right ventricle of the heart.
HP:0001708	Right ventricular failure	biolink:PhenotypicFeature	hp	MSH:D006333|SNOMEDCT_US:128404006|SNOMEDCT_US:367363000|UMLS:C0235527|UMLS:C2939447		Impaired right ventricular function|Right ventricular impairment|Right-sided heart failure	http://purl.obolibrary.org/obo/HP_0001708	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:27885002|UMLS:C0151517		Complete heart block|Third-degree heart block	http://purl.obolibrary.org/obo/HP_0001709	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	biolink:PhenotypicFeature	hp	UMLS:C1853238		Conotruncal heart defects	http://purl.obolibrary.org/obo/HP_0001710	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	biolink:PhenotypicFeature	hp	Fyler:1810|SNOMEDCT_US:253535002|UMLS:C0344905		Abnormal heart left ventricle morphology|Abnormality of the left ventricle|Left ventricular abnormality	http://purl.obolibrary.org/obo/HP_0001711	Any structural abnormality of the left ventricle of the heart.
HP:0001712	Left ventricular hypertrophy	biolink:PhenotypicFeature	hp	Fyler:3608|MSH:D017379|SNOMEDCT_US:55827005|UMLS:C0149721		Heart left ventricle hypertrophy|Left ventricular wall hypertrophy	http://purl.obolibrary.org/obo/HP_0001712	Enlargement or increased size of the heart left ventricle.
HP:0001713	Abnormal cardiac ventricle morphology	biolink:PhenotypicFeature	hp	UMLS:C4025752		Abnormality of cardiac ventricle	http://purl.obolibrary.org/obo/HP_0001713	An abnormality of a cardiac ventricle.
HP:0001714	Ventricular hypertrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:266249003|UMLS:C0340279			http://purl.obolibrary.org/obo/HP_0001714	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	biolink:PhenotypicFeature	hp	MSH:D014927|SNOMEDCT_US:74390002|UMLS:C0043202			http://purl.obolibrary.org/obo/HP_0001716	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445512009|UMLS:C1611184			http://purl.obolibrary.org/obo/HP_0001717	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	biolink:PhenotypicFeature	hp	EPCC:06.02.92|Fyler:1511|ICD-10:Q23.2|MSH:D008946|SNOMEDCT_US:79619009|UMLS:C0026269		Mitral valve stenosis	http://purl.obolibrary.org/obo/HP_0001718	An abnormal narrowing of the orifice of the mitral valve.
HP:0001719	Double outlet right ventricle	biolink:PhenotypicFeature	hp	Fyler:600|Fyler:606|MSH:D004310|SNOMEDCT_US:7484005|UMLS:C0013069		DORV|Double-outlet right ventricle	http://purl.obolibrary.org/obo/HP_0001719	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	biolink:PhenotypicFeature	hp	UMLS:C0742747			http://purl.obolibrary.org/obo/HP_0001722	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	biolink:PhenotypicFeature	hp	MSH:D002313|SNOMEDCT_US:415295002|SNOMEDCT_US:90828009|UMLS:C0007196			http://purl.obolibrary.org/obo/HP_0001723	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:0001724	obsolete Aortic dilatation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001724	
HP:0001726	obsolete Increased prevalence of valvular disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001726	
HP:0001727	Thromboembolic stroke	biolink:PhenotypicFeature	hp	UMLS:C1112433			http://purl.obolibrary.org/obo/HP_0001727	A cerebrovascular accident (stroke) that occurs because of thromboembolism.
HP:0001730	Progressive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C1842138		Progressive hearing loss	http://purl.obolibrary.org/obo/HP_0001730	A progressive form of hearing impairment.
HP:0001732	Abnormality of the pancreas	biolink:PhenotypicFeature	hp	MSH:D010182|SNOMEDCT_US:3855007|UMLS:C0030286|UMLS:C4025751		Abnormality of the pancreas|Pancreatic disease	http://purl.obolibrary.org/obo/HP_0001732	An abnormality of the pancreas.
HP:0001733	Pancreatitis	biolink:PhenotypicFeature	hp	MSH:D010195|SNOMEDCT_US:75694006|UMLS:C0030305		Pancreatic inflammation	http://purl.obolibrary.org/obo/HP_0001733	The presence of inflammation in the pancreas.
HP:0001734	Annular pancreas	biolink:PhenotypicFeature	hp	MSH:C536376|SNOMEDCT_US:40315008|UMLS:C0149955			http://purl.obolibrary.org/obo/HP_0001734	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197456007|UMLS:C0001339		Acute pancreatic inflammation|Pancreatitis, acute	http://purl.obolibrary.org/obo/HP_0001735	A acute form of pancreatitis.
HP:0001737	Pancreatic cysts	biolink:PhenotypicFeature	hp	MSH:D010181|SNOMEDCT_US:31258000|UMLS:C0030283|UMLS:C1860394		Pancreatic cysts|Multiple pancreatic cysts|Pancreatic cyst	http://purl.obolibrary.org/obo/HP_0001737	A cyst of the pancreas that possess a lining of mucous epithelium.
HP:0001738	Exocrine pancreatic insufficiency	biolink:PhenotypicFeature	hp	MSH:D010188|SNOMEDCT_US:37992001|SNOMEDCT_US:47367009|UMLS:C0030293|UMLS:C0267963		Inability to properly digest food due to lack of pancreatic digestive enzymes|Pancreatic insufficiency	http://purl.obolibrary.org/obo/HP_0001738	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	biolink:PhenotypicFeature	hp	UMLS:C4025750		Abnormality of the nasopharynx	http://purl.obolibrary.org/obo/HP_0001739	A structural anomaly of the nasopharynx.
HP:0001741	Phimosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253854008|UMLS:C0345326			http://purl.obolibrary.org/obo/HP_0001741	The male foreskin cannot be fully retracted from the head of the penis.
HP:0001742	Nasal obstruction	biolink:PhenotypicFeature	hp	MSH:D015508|SNOMEDCT_US:232209000|SNOMEDCT_US:267100006|SNOMEDCT_US:68235000|UMLS:C0027424|UMLS:C0027429		Blockage of nose|Nasal blockage|Nasal obstruction|Obstruction of nose|Stuffy nose|Congestion of nose|Nasal congestion	http://purl.obolibrary.org/obo/HP_0001742	Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
HP:0001743	Abnormality of the spleen	biolink:PhenotypicFeature	hp	UMLS:C4025749		Abnormality of the spleen	http://purl.obolibrary.org/obo/HP_0001743	An abnormality of the spleen.
HP:0001744	Splenomegaly	biolink:PhenotypicFeature	hp	MSH:D013163|SNOMEDCT_US:16294009|UMLS:C0038002		Increased spleen size	http://purl.obolibrary.org/obo/HP_0001744	Abnormal increased size of the spleen.
HP:0001746	Asplenia	biolink:PhenotypicFeature	hp	Fyler:4771|SNOMEDCT_US:702624008|SNOMEDCT_US:707147002|SNOMEDCT_US:93030006|UMLS:C0600031		Absent spleen	http://purl.obolibrary.org/obo/HP_0001746	Absence (aplasia) of the spleen.
HP:0001747	Accessory spleen	biolink:PhenotypicFeature	hp	Fyler:4772|SNOMEDCT_US:10362008|UMLS:C0266631			http://purl.obolibrary.org/obo/HP_0001747	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	biolink:PhenotypicFeature	hp	UMLS:C1856659		Multiple small spleens|Accessory spleens|Multiple accessory spleens	http://purl.obolibrary.org/obo/HP_0001748	Polysplenia is a congenital disease manifested by multiple small accessory spleens.
HP:0001750	Single ventricle	biolink:PhenotypicFeature	hp	Fyler:0200|Fyler:200|SNOMEDCT_US:45503006|UMLS:C0152424		Common ventricle	http://purl.obolibrary.org/obo/HP_0001750	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	Vestibular dysfunction	biolink:PhenotypicFeature	hp	UMLS:C1843865		Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect	http://purl.obolibrary.org/obo/HP_0001751	An abnormality of the functioning of the vestibular apparatus.
HP:0001756	Vestibular hypofunction	biolink:PhenotypicFeature	hp	UMLS:C1848606			http://purl.obolibrary.org/obo/HP_0001756	Reduced functioning of the vestibular apparatus.
HP:0001757	High-frequency sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021775		High frequency sensorineural hearing impairment|High-tone sensorineural deafness|High-tone sensorineural hearing impairment	http://purl.obolibrary.org/obo/HP_0001757	A form of sensorineural hearing impairment that affects primarily the higher frequencies.
HP:0001760	Abnormal foot morphology	biolink:PhenotypicFeature	hp	MSH:D005530|SNOMEDCT_US:229844004|UMLS:C0016506		Abnormal feet structure|Abnormality of the feet|Abnormality of the foot|Foot deformities|Foot deformity	http://purl.obolibrary.org/obo/HP_0001760	An abnormality of the skeleton of foot.
HP:0001761	Pes cavus	biolink:PhenotypicFeature	hp	MEDDRA:10034743|SNOMEDCT_US:205091006|UMLS:C0728829	hposlim_core	High-arched foot	http://purl.obolibrary.org/obo/HP_0001761	The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
HP:0001762	Talipes equinovarus	biolink:PhenotypicFeature	hp	Fyler:4171|MEDDRA:10043106|MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081	hposlim_core	Club feet|Club foot|Clubfeet|Clubfoot|Clubbing of feet|Equinovarus|Foot, talipes equinovarus|Pes equinovarus|Pes equinus|Talipes varus	http://purl.obolibrary.org/obo/HP_0001762	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	biolink:PhenotypicFeature	hp	MSH:D005413|SNOMEDCT_US:203534009|SNOMEDCT_US:53226007|UMLS:C0016202|UMLS:C0264133	hposlim_core	Flat feet|Flat foot|Dropped arches|Fallen arches	http://purl.obolibrary.org/obo/HP_0001763	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	biolink:PhenotypicFeature	hp	MSH:D037801|SNOMEDCT_US:122481008|UMLS:C1136179	hposlim_core	Hammer toe|Hammertoe|Hammertoes	http://purl.obolibrary.org/obo/HP_0001765	Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
HP:0001769	Broad foot	biolink:PhenotypicFeature	hp	UMLS:C1866241	hposlim_core	Broad feet|Broad foot|Wide foot	http://purl.obolibrary.org/obo/HP_0001769	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:32113001|UMLS:C0265660		Fused toes|Webbed toes|Foot syndactyly|Syndactyly of feet|Syndactyly of toes	http://purl.obolibrary.org/obo/HP_0001770	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:203076007|UMLS:C0410264		Shortening of the achilles tendon|Tight achilles tendon|Achilles tendon contractures|Contractures of the Achilles tendon	http://purl.obolibrary.org/obo/HP_0001771	A contracture of the Achilles tendon.
HP:0001772	Talipes equinovalgus	biolink:PhenotypicFeature	hp	MSH:D004863|SNOMEDCT_US:68284008|UMLS:C0265642|UMLS:C4020866		Equinovalgus deformity	http://purl.obolibrary.org/obo/HP_0001772	A deformity of foot and ankle in which the foot is bent down and outwards.
HP:0001773	Short foot	biolink:PhenotypicFeature	hp	UMLS:C1848673		Short feet|Short foot|Small feet|Hypoplastic feet	http://purl.obolibrary.org/obo/HP_0001773	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	biolink:PhenotypicFeature	hp	UMLS:C4025748			http://purl.obolibrary.org/obo/HP_0001775	
HP:0001776	Bilateral talipes equinovarus	biolink:PhenotypicFeature	hp	UMLS:C1837835		Club foot on both sides|Bilateral clubfeet|Bilateral clubfoot	http://purl.obolibrary.org/obo/HP_0001776	Bilateral clubfoot deformity (see HP:0001762).
HP:0001780	Abnormality of toe	biolink:PhenotypicFeature	hp	UMLS:C2674738	hposlim_core	Abnormalities of the toes|Abnormality of toe	http://purl.obolibrary.org/obo/HP_0001780	An anomaly of a toe.
HP:0001782	Bulbous tips of toes	biolink:PhenotypicFeature	hp	UMLS:C4025747			http://purl.obolibrary.org/obo/HP_0001782	An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.
HP:0001783	Broad metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1842231|UMLS:C1850161		Wide long bone of foot|Broad metatarsals|Widened metatarsal shaft	http://purl.obolibrary.org/obo/HP_0001783	Increased side-to-side width of a metatarsal bone.
HP:0001785	Ankle swelling	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26237000|SNOMEDCT_US:267039000|UMLS:C0235439		Ankle swelling	http://purl.obolibrary.org/obo/HP_0001785	
HP:0001786	Narrow foot	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299464006|UMLS:C0576227	hposlim_core	Narrow foot|Slender feet	http://purl.obolibrary.org/obo/HP_0001786	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274127000|UMLS:C0549629		Abnormal delivery|Delivery complication	http://purl.obolibrary.org/obo/HP_0001787	An abnormality of the birth process.
HP:0001788	Premature rupture of membranes	biolink:PhenotypicFeature	hp	MSH:D005322|SNOMEDCT_US:237266003|SNOMEDCT_US:44223004|UMLS:C0015944			http://purl.obolibrary.org/obo/HP_0001788	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	biolink:PhenotypicFeature	hp	MSH:D015160|SNOMEDCT_US:276508000|UMLS:C0020305			http://purl.obolibrary.org/obo/HP_0001789	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	biolink:PhenotypicFeature	hp	MSH:D015160|SNOMEDCT_US:206538000|SNOMEDCT_US:276509008|UMLS:C0455988		Hydrops fetalis, non-immune|Hydrops fetalis, nonimmune|Non-immune fetal hydrops|Nonimmune hydrops	http://purl.obolibrary.org/obo/HP_0001790	A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .
HP:0001791	Fetal ascites	biolink:PhenotypicFeature	hp	SNOMEDCT_US:363125002|UMLS:C1285291		Foetal ascites	http://purl.obolibrary.org/obo/HP_0001791	Accumulation of fluid in the peritoneal cavity during the fetal period.
HP:0001792	Small nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:11375002|UMLS:C0263523		Small nail|Small nails|Hypoplastic nail|Hypoplastic nails|Nail hypoplasia	http://purl.obolibrary.org/obo/HP_0001792	A nail that is diminished in length and width, i.e., underdeveloped nail.
HP:0001795	Hyperconvex nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247487009|UMLS:C0423807	hposlim_core	Increased nail curvature|Nail overcurvature	http://purl.obolibrary.org/obo/HP_0001795	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	biolink:PhenotypicFeature	hp	MSH:C536377|SNOMEDCT_US:23610003|UMLS:C0265998	hposlim_core	Absent nails|Aplastic nails	http://purl.obolibrary.org/obo/HP_0001798	Aplasia of the nail.
HP:0001799	Short nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247488004|UMLS:C0423808	hposlim_core	Short nail|Short nails	http://purl.obolibrary.org/obo/HP_0001799	Decreased length of nail.
HP:0001800	Hypoplastic toenails	biolink:PhenotypicFeature	hp	UMLS:C1837279		Underdeveloped toenails	http://purl.obolibrary.org/obo/HP_0001800	Underdevelopment of the toenail.
HP:0001802	Absent toenail	biolink:PhenotypicFeature	hp	UMLS:C1844555	hposlim_core	Absent toenail|Absent toenails|Absent toenails (anonychia)|Anonychia of toenails	http://purl.obolibrary.org/obo/HP_0001802	Congenital absence of the toenail.
HP:0001803	Nail pits	biolink:PhenotypicFeature	hp	MEDDRA:10028702|SNOMEDCT_US:89704006|UMLS:C0150993	secondary_consequence	Nail pits|Nail pitting|Pitted nails	http://purl.obolibrary.org/obo/HP_0001803	Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
HP:0001804	Hypoplastic fingernail	biolink:PhenotypicFeature	hp	UMLS:C1856786		Small fingernail|Underdeveloped fingernail	http://purl.obolibrary.org/obo/HP_0001804	Underdevelopment of a fingernail.
HP:0001805	Onychogryposis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:52897009|UMLS:C0263537		Thick nail|Thickened nails|Dystrophic thickened nails	http://purl.obolibrary.org/obo/HP_0001805	Nail that appears thick when viewed on end.
HP:0001806	Onycholysis	biolink:PhenotypicFeature	hp	MEDDRA:10030337|MSH:D054039|SNOMEDCT_US:75789001|UMLS:C0085661	hposlim_core	Detachment of nail|Oncholysis	http://purl.obolibrary.org/obo/HP_0001806	Detachment of the nail from the nail bed.
HP:0001807	Ridged nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271768001|UMLS:C0423820	hposlim_core	Grooved nails|Nail ridging|Ridged nails|Longitudinal ridging	http://purl.obolibrary.org/obo/HP_0001807	Longitudinal, linear prominences in the nail plate.
HP:0001808	Fragile nails	biolink:PhenotypicFeature	hp	UMLS:C1856963		Brittle nails	http://purl.obolibrary.org/obo/HP_0001808	Nails that easily break.
HP:0001809	Split nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:85136002|UMLS:C0263530		Longitudinal splitting of nail	http://purl.obolibrary.org/obo/HP_0001809	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	biolink:PhenotypicFeature	hp	UMLS:C1833225		Poor toenail formation|Dystrophic toenail changes|Dystrophic toenails	http://purl.obolibrary.org/obo/HP_0001810	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	biolink:PhenotypicFeature	hp	UMLS:C1844825		Tubular fingernails	http://purl.obolibrary.org/obo/HP_0001812	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	biolink:PhenotypicFeature	hp	UMLS:C3277753		Deep-set nails	http://purl.obolibrary.org/obo/HP_0001814	Deeply placed nails.
HP:0001816	Thin nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:63829008|UMLS:C0423823	hposlim_core	Thin nail|Thin nails	http://purl.obolibrary.org/obo/HP_0001816	Nail that appears thin when viewed on end.
HP:0001817	Absent fingernail	biolink:PhenotypicFeature	hp	UMLS:C1844554	hposlim_core	Absent fingernail|Aplasia of the fingernail|Anonychia of fingernails	http://purl.obolibrary.org/obo/HP_0001817	Absence of a fingernail.
HP:0001818	Paronychia	biolink:PhenotypicFeature	hp	MEDDRA:10034016|MSH:D010304|SNOMEDCT_US:71906005|UMLS:C0030578	hposlim_core		http://purl.obolibrary.org/obo/HP_0001818	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	biolink:PhenotypicFeature	hp	MEDDRA:10050658|SNOMEDCT_US:111202002|UMLS:C0240182		White discoloration of nails	http://purl.obolibrary.org/obo/HP_0001820	White discoloration of the nails.
HP:0001821	Broad nail	biolink:PhenotypicFeature	hp	UMLS:C1843112		Broad fingernails|Broad nail|Wide fingernails	http://purl.obolibrary.org/obo/HP_0001821	Increased width of nail.
HP:0001822	Hallux valgus	biolink:PhenotypicFeature	hp	MSH:D000071378|MSH:D006215|SNOMEDCT_US:122480009|SNOMEDCT_US:415692008|UMLS:C0006386|UMLS:C0018536		Bunion|Lateral deviation of great toe|Lateral deviation of halluces	http://purl.obolibrary.org/obo/HP_0001822	Lateral deviation of the great toe (i.e., in the direction of the little toe).
HP:0001824	Weight loss	biolink:PhenotypicFeature	hp	MSH:D015431|SNOMEDCT_US:161832001|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|UMLS:C1262477			http://purl.obolibrary.org/obo/HP_0001824	Reduction inexisting body weight.
HP:0001827	Genital tract atresia	biolink:PhenotypicFeature	hp	UMLS:C4025746			http://purl.obolibrary.org/obo/HP_0001827	Congenital occlusion of a tube in the genital tract.
HP:0001829	Foot polydactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62218008|UMLS:C0158734	hposlim_core	Duplication of bones of the toes|Polydactyly of feet|Polydactyly of the foot	http://purl.obolibrary.org/obo/HP_0001829	A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
HP:0001830	Postaxial foot polydactyly	biolink:PhenotypicFeature	hp	UMLS:C2112129|UMLS:C4020865		Extra toe attached near the little toe|Polydactyly affecting the 5th toe|Postaxial polydactyly of feet|Postaxial polydactyly of foot|Posterior polydactyly of foot|Fibular polydactyly	http://purl.obolibrary.org/obo/HP_0001830	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	biolink:PhenotypicFeature	hp	UMLS:C1836195	hposlim_core	Short toe|Short toes|Stubby toes|Brachydactyly of the foot|Hypoplasia of the toe|Hypoplastic toes|Short foot phalanges	http://purl.obolibrary.org/obo/HP_0001831	A toe that appears disproportionately short compared to the foot.
HP:0001832	Abnormal metatarsal morphology	biolink:PhenotypicFeature	hp	UMLS:C4025745		Abnormality of the long bone of foot	http://purl.obolibrary.org/obo/HP_0001832	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299462005|UMLS:C0576225	hposlim_core	Disproportionately large feet|Long foot|large feet|long feet	http://purl.obolibrary.org/obo/HP_0001833	Increased back to front length of the foot.
HP:0001836	Camptodactyly of toe	biolink:PhenotypicFeature	hp	UMLS:C4021774		Camptodactyly of feet	http://purl.obolibrary.org/obo/HP_0001836	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	biolink:PhenotypicFeature	hp	UMLS:C1865038	hposlim_core	Broad toe|Wide toe	http://purl.obolibrary.org/obo/HP_0001837	Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
HP:0001838	Rocker bottom foot	biolink:PhenotypicFeature	hp	MEDDRA:10066242|MSH:C536345|MSH:D005413|SNOMEDCT_US:205082007|SNOMEDCT_US:205359003|UMLS:C0240912	hposlim_core	Rocker bottom feet|Rocker bottom foot|Rocker-bottom feet|Rockerbottom feet|Congenital vertical talus	http://purl.obolibrary.org/obo/HP_0001838	The presence of both a prominent heel and a convex contour of the sole.
HP:0001839	Split foot	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205358006|UMLS:C0432028	hposlim_core	Lobster-claw foot deformity|Split foot|Split-foot|Foot ectrodactyly	http://purl.obolibrary.org/obo/HP_0001839	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	biolink:PhenotypicFeature	hp	MSH:D000070592|SNOMEDCT_US:77599005|UMLS:C0231791|UMLS:C4082169	hposlim_core	Front half of foot turns inward|Forefoot varus|Metatarsus adductovarsus|Metatarsus varus|Intoe	http://purl.obolibrary.org/obo/HP_0001840	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	biolink:PhenotypicFeature	hp	MSH:C566632|UMLS:C1866339|UMLS:C2112942		Partial/complete duplication of the phalanges of the big toe|Polydactyly affecting the hallux|Preaxial hallucal polydactyly|Preaxial polydactyly of feet|Preaxial polydactyly of foot|Preaxial polydactyly of the feet|Preaxial polydactyly, feet	http://purl.obolibrary.org/obo/HP_0001841	Duplication of all or part of the first ray.
HP:0001842	Foot acroosteolysis	biolink:PhenotypicFeature	hp	UMLS:C4025744		Acroosteolysis of feet	http://purl.obolibrary.org/obo/HP_0001842	
HP:0001844	Abnormality of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021773	hposlim_core	Abnormality of the big toe|Abnormalities of the hallux	http://purl.obolibrary.org/obo/HP_0001844	This term applies for all abnormalities of the big toe, also called hallux.
HP:0001845	Overlapping toe	biolink:PhenotypicFeature	hp	SNOMEDCT_US:203541003|UMLS:C0920299	hposlim_core	Overlapping toe|Overlapping toes|Overriding toes|Crossover toe	http://purl.obolibrary.org/obo/HP_0001845	Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
HP:0001847	Long hallux	biolink:PhenotypicFeature	hp	UMLS:C1864375	hposlim_core	Long big toe|Increased length of the hallux|Large halluces|Long halluces	http://purl.obolibrary.org/obo/HP_0001847	Increased length of the big toe.
HP:0001848	Calcaneovalgus deformity	biolink:PhenotypicFeature	hp	UMLS:C1860450		Foot and ankle bend up toward shin of leg|Calcaneovalgus|Calcaneovalgus Foot|Valgus position of the calcaneus	http://purl.obolibrary.org/obo/HP_0001848	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249820005|UMLS:C0426934	hposlim_core	Missing toes|Oligodactyly of feet	http://purl.obolibrary.org/obo/HP_0001849	A developmental defect resulting in the presence of fewer than the normal number of toes.
HP:0001850	Abnormality of the tarsal bones	biolink:PhenotypicFeature	hp	UMLS:C1862136		Abnormal ankle bones|Abnormal tarsals	http://purl.obolibrary.org/obo/HP_0001850	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	biolink:PhenotypicFeature	hp	UMLS:C1840069	hposlim_core	Gap between 1st and 2nd toes|Gap between first and second toe|Increased space between first and second toes|Sandal gap between first and second toes|Wide space between 1st, 2nd toes|Wide space between first and second toes|Wide-spaced big toe|Widely spaced 1st-2nd toes|Widely spaced first and second toes|Widened gap 1st-2nd toes|Widened gap first and second toe|Space between great toe and second toe	http://purl.obolibrary.org/obo/HP_0001852	A widely spaced gap between the first toe (the great toe) and the second toe.
HP:0001853	Bifid distal phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021772		Notched outermost bones of toes|Bifid distal phalanges of toes|Bifid terminal phalanx of toe	http://purl.obolibrary.org/obo/HP_0001853	
HP:0001854	Podagra	biolink:PhenotypicFeature	hp	SNOMEDCT_US:67148009|UMLS:C0221168		Gout of big toe	http://purl.obolibrary.org/obo/HP_0001854	Gout affecting the Metatarsophalangeal joint of big toe.
HP:0001857	Short distal phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021771		Short outermost bone of toe|Hypoplastic distal phalanges of feet	http://purl.obolibrary.org/obo/HP_0001857	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	biolink:PhenotypicFeature	hp	UMLS:C4025743			http://purl.obolibrary.org/obo/HP_0001859	
HP:0001862	obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0001862	
HP:0001863	Toe clinodactyly	biolink:PhenotypicFeature	hp	UMLS:C4021770|UMLS:C4280587		Toe curvature|Clinodactyly of feet	http://purl.obolibrary.org/obo/HP_0001863	Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).
HP:0001864	Clinodactyly of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4025741|UMLS:C4280586		Curvature of the little toe|Curvature of the pinkie toe|Curvature of the pinky toe	http://purl.obolibrary.org/obo/HP_0001864	Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
HP:0001868	Autoamputation of foot	biolink:PhenotypicFeature	hp	UMLS:C4025740			http://purl.obolibrary.org/obo/HP_0001868	Spontaneous detachment of a foot from the body.
HP:0001869	Deep plantar creases	biolink:PhenotypicFeature	hp	UMLS:C1857953		Deep wrinkles in soles of feet	http://purl.obolibrary.org/obo/HP_0001869	The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
HP:0001870	Acroosteolysis of distal phalanges (feet)	biolink:PhenotypicFeature	hp	UMLS:C4025739		Acroosteolysis of distal phalanges of feet	http://purl.obolibrary.org/obo/HP_0001870	
HP:0001871	Abnormality of blood and blood-forming tissues	biolink:PhenotypicFeature	hp	MSH:D006402|SNOMEDCT_US:191124002|SNOMEDCT_US:34093004|UMLS:C0018939|UMLS:C0850715|UMLS:C4020864		Abnormality of blood and blood-forming tissues|Abnormality of the hematopoietic system|Hematological abnormality|Abnormality of the haematopoietic system|Hematologic disease	http://purl.obolibrary.org/obo/HP_0001871	An abnormality of the hematopoietic system.
HP:0001872	Abnormal thrombocyte morphology	biolink:PhenotypicFeature	hp	MSH:D013915|SNOMEDCT_US:127566005|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C0151854|UMLS:C4020863		Platelet abnormalities|Blood platelet disease|Thrombasthenia	http://purl.obolibrary.org/obo/HP_0001872	An abnormality of platelets.
HP:0001873	Thrombocytopenia	biolink:PhenotypicFeature	hp	MSH:D013921|SNOMEDCT_US:302215000|SNOMEDCT_US:415116008|UMLS:C0040034|UMLS:C0392386		Low platelet count	http://purl.obolibrary.org/obo/HP_0001873	A reduction in the number of circulating thrombocytes.
HP:0001874	Abnormality of neutrophils	biolink:PhenotypicFeature	hp	SNOMEDCT_US:250274006|UMLS:C0427515		Abnormality of neutrophils|Abnormality of neutrophil|Abnormality of polymorphonuclear neutrophils	http://purl.obolibrary.org/obo/HP_0001874	A neutrophil abnormality.
HP:0001875	Neutropenia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165517008|UMLS:C0853697		Low blood neutrophil count|Low neutrophil count|Neutropoenia|Peripheral neutropenia	http://purl.obolibrary.org/obo/HP_0001875	An abnormally low number of neutrophils in the peripheral blood.
HP:0001876	Pancytopenia	biolink:PhenotypicFeature	hp	MSH:D010198|SNOMEDCT_US:127034005|UMLS:C0030312		Low blood cell count	http://purl.obolibrary.org/obo/HP_0001876	An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
HP:0001877	Abnormal erythrocyte morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:12222001|UMLS:C0391870|UMLS:C4020862		Abnormality of erythrocytes|Abnormality of red blood cells|Abnormality of erythroid lineage cell	http://purl.obolibrary.org/obo/HP_0001877	Any structural abnormality of erythrocytes (red-blood cells).
HP:0001878	Hemolytic anemia	biolink:PhenotypicFeature	hp	MSH:D000743|SNOMEDCT_US:61261009|UMLS:C0002878		Hemolytic anaemia|Haemolytic anaemia|Increased hemolysis	http://purl.obolibrary.org/obo/HP_0001878	A type of anemia caused by premature destruction of red blood cells (hemolysis).
HP:0001879	Abnormal eosinophil morphology	biolink:PhenotypicFeature	hp	UMLS:C4025738		Abnormality of eosinophils	http://purl.obolibrary.org/obo/HP_0001879	An abnormal count or structure of eosinophils.
HP:0001880	Eosinophilia	biolink:PhenotypicFeature	hp	MSH:D004802|UMLS:C0014457		High blood eosinophil count	http://purl.obolibrary.org/obo/HP_0001880	Increased count of eosinophils in the blood.
HP:0001881	Abnormal leukocyte morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:134199001|SNOMEDCT_US:24827003|UMLS:C0152009		Abnormal leukocyte function|Abnormality of leukocytes	http://purl.obolibrary.org/obo/HP_0001881	An abnormality of leukocytes.
HP:0001882	Leukopenia	biolink:PhenotypicFeature	hp	MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530		Decreased blood leukocyte number|Low white blood cell count	http://purl.obolibrary.org/obo/HP_0001882	An abnormal decreased number of leukocytes in the blood.
HP:0001883	Talipes	biolink:PhenotypicFeature	hp	MSH:D000070558|SNOMEDCT_US:398309008|UMLS:C1301937|UMLS:C3552713		Talipes foot deformities	http://purl.obolibrary.org/obo/HP_0001883	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	biolink:PhenotypicFeature	hp	MSH:D005413|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003|UMLS:C0152237		Pes calcaneovarus	http://purl.obolibrary.org/obo/HP_0001884	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	biolink:PhenotypicFeature	hp	UMLS:C4021769		Short second toe	http://purl.obolibrary.org/obo/HP_0001885	Underdevelopment (hypoplasia) of the second toe.
HP:0001886	Foot osteomyelitis	biolink:PhenotypicFeature	hp	UMLS:C4025737		Foot bone infection	http://purl.obolibrary.org/obo/HP_0001886	An infection of bone of the foot.
HP:0001888	Lymphopenia	biolink:PhenotypicFeature	hp	MSH:D008231|SNOMEDCT_US:48813009|UMLS:C0024312		Decreased blood lymphocyte number|Low lymphocyte number|Absolute lymphocyte count decrease|Lymphocytopenia	http://purl.obolibrary.org/obo/HP_0001888	A reduced number of lymphocytes in the blood.
HP:0001889	Megaloblastic anemia	biolink:PhenotypicFeature	hp	MSH:D000749|SNOMEDCT_US:53165003|UMLS:C0002888		Megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0001889	Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
HP:0001890	Autoimmune hemolytic anemia	biolink:PhenotypicFeature	hp	MSH:D000744|SNOMEDCT_US:413603009|UMLS:C0002880		Autoimmune hemolytic anaemia|Autoimmune haemolytic anaemia|Hemolytic anemia, autoimmune	http://purl.obolibrary.org/obo/HP_0001890	An autoimmune form of hemolytic anemia.
HP:0001891	Iron deficiency anemia	biolink:PhenotypicFeature	hp	MSH:D018798|SNOMEDCT_US:87522002|UMLS:C0162316		Iron deficiency anaemia|Ferropenic|Iron-deficiency anemia	http://purl.obolibrary.org/obo/HP_0001891	
HP:0001892	Abnormal bleeding	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248250000|SNOMEDCT_US:64779008|UMLS:C1458140		Bleeding tendency|Bleeding diathesis|Hemorrhagic diathesis	http://purl.obolibrary.org/obo/HP_0001892	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	biolink:PhenotypicFeature	hp	MSH:D013922|SNOMEDCT_US:415115007|SNOMEDCT_US:6631009|UMLS:C0836924|UMLS:C0857460		Increased number of platelets in blood|Increased platelet count|Thrombocythaemia|Thrombocythemia	http://purl.obolibrary.org/obo/HP_0001894	Increased numbers of platelets in the peripheral blood.
HP:0001895	Normochromic anemia	biolink:PhenotypicFeature	hp	UMLS:C0235983		Normochromic anaemia	http://purl.obolibrary.org/obo/HP_0001895	
HP:0001896	Reticulocytopenia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124961001|UMLS:C0858867			http://purl.obolibrary.org/obo/HP_0001896	A reduced number of reticulocytes in the peripheral blood.
HP:0001897	Normocytic anemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300980002|UMLS:C0085577		Normocytic anaemia	http://purl.obolibrary.org/obo/HP_0001897	A kind of anemia in which the volume of the red blood cells is normal.
HP:0001898	Increased red blood cell mass	biolink:PhenotypicFeature	hp	UMLS:C1853288		Increased RBC mass	http://purl.obolibrary.org/obo/HP_0001898	The presence of an increased mass of red blood cells in the circulation.
HP:0001899	Increased hematocrit	biolink:PhenotypicFeature	hp	UMLS:C0239935		Increased Hct	http://purl.obolibrary.org/obo/HP_0001899	An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
HP:0001900	Increased hemoglobin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:131141003|UMLS:C0549448		Increased Hb|Increased haemoglobin	http://purl.obolibrary.org/obo/HP_0001900	
HP:0001901	Polycythemia	biolink:PhenotypicFeature	hp	MSH:D011086|SNOMEDCT_US:109992005|SNOMEDCT_US:127062003|UMLS:C0032461|UMLS:C1527405		Increased red blood cells|Abnormally shaped erythrocytes|Erythrocytosis|Polyglobulia	http://purl.obolibrary.org/obo/HP_0001901	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:44687006|UMLS:C0333864			http://purl.obolibrary.org/obo/HP_0001902	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	biolink:PhenotypicFeature	hp	MSH:D000740|SNOMEDCT_US:165397008|SNOMEDCT_US:271737000|UMLS:C0002871|UMLS:C0162119		Low number of red blood cells or hemoglobin|Anaemia|Decreased hemoglobin	http://purl.obolibrary.org/obo/HP_0001903	A reduction in erythrocytes volume or hemoglobin concentration.
HP:0001904	Neutropenia in presence of anti-neutropil antibodies	biolink:PhenotypicFeature	hp	SNOMEDCT_US:234425008|UMLS:C0340971		Autoimmune neutropenia	http://purl.obolibrary.org/obo/HP_0001904	A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
HP:0001905	Congenital thrombocytopenia	biolink:PhenotypicFeature	hp	UMLS:C0272278		thrombocytopenia, congenital	http://purl.obolibrary.org/obo/HP_0001905	Thrombocytopenia with congenital onset.
HP:0001907	Thromboembolism	biolink:PhenotypicFeature	hp	MSH:D013923|MSH:D016769|SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|UMLS:C0040038|UMLS:C0085307		Blood clot in blood vessel|Thromboembolic disease|Thromboembolic events|Embolism and thrombosis	http://purl.obolibrary.org/obo/HP_0001907	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	biolink:PhenotypicFeature	hp	MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416		Hypoplastic anaemia	http://purl.obolibrary.org/obo/HP_0001908	Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
HP:0001909	Leukemia	biolink:PhenotypicFeature	hp	MSH:D007938|MSH:D019337|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|SNOMEDCT_US:87163000|SNOMEDCT_US:93143009|UMLS:C0023418|UMLS:C0376545		Blood cancer|Leukaemia	http://purl.obolibrary.org/obo/HP_0001909	A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
HP:0001911	Abnormal granulocyte morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:250274006|UMLS:C0427515		Abnormality of granulocytes	http://purl.obolibrary.org/obo/HP_0001911	Any structural abnormality or abnormal count of granulocytes.
HP:0001912	Abnormal basophil morphology	biolink:PhenotypicFeature	hp	UMLS:C4025736		Abnormality of basophils	http://purl.obolibrary.org/obo/HP_0001912	Any structural abnormality or abnormal count of basophils.
HP:0001913	Granulocytopenia	biolink:PhenotypicFeature	hp	MSH:D000380|SNOMEDCT_US:17182001|SNOMEDCT_US:417672002|UMLS:C0001824			http://purl.obolibrary.org/obo/HP_0001913	An abnormally reduced number of granulocytes in the blood.
HP:0001915	Aplastic anemia	biolink:PhenotypicFeature	hp	MSH:D000741|SNOMEDCT_US:304132006|SNOMEDCT_US:306058006|UMLS:C0002874		Aplastic anaemia	http://purl.obolibrary.org/obo/HP_0001915	Aplastic anemia is defined as pancytopenia with a hypocellular marrow.
HP:0001917	Renal amyloidosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48713002|UMLS:C0268382			http://purl.obolibrary.org/obo/HP_0001917	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	biolink:PhenotypicFeature	hp	MSH:D058186|SNOMEDCT_US:14350001000004108|SNOMEDCT_US:14669001|UMLS:C0022660|UMLS:C2609414		Acute kidney failure|Acute renal failure	http://purl.obolibrary.org/obo/HP_0001919	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	biolink:PhenotypicFeature	hp	Fyler:2634|MSH:D012078|SNOMEDCT_US:282664001|SNOMEDCT_US:302233006|UMLS:C0035067		Narrowing of kidney artery	http://purl.obolibrary.org/obo/HP_0001920	The presence of stenosis of the renal artery.
HP:0001922	Vacuolated lymphocytes	biolink:PhenotypicFeature	hp	UMLS:C1836855		Enlarged lysosomal vacuoles in lymphocytes|Vacuolated blood lymphocytes	http://purl.obolibrary.org/obo/HP_0001922	The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
HP:0001923	Reticulocytosis	biolink:PhenotypicFeature	hp	MSH:D045262|SNOMEDCT_US:46049004|UMLS:C0206160		Increased immature red blood cells|Increased number of immature red blood cells|Increased reticulocyte count|Increased reticulocytes|Polychromasia	http://purl.obolibrary.org/obo/HP_0001923	An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
HP:0001924	Sideroblastic anemia	biolink:PhenotypicFeature	hp	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896		Sideroblastic anaemia|Hypersideremic anemia	http://purl.obolibrary.org/obo/HP_0001924	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:250249008|UMLS:C0687751	hposlim_core	Acanthocytes|Red cell acanthocytosis	http://purl.obolibrary.org/obo/HP_0001927	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	biolink:PhenotypicFeature	hp	MSH:D001778|MSH:D006474|SNOMEDCT_US:362970003|SNOMEDCT_US:64779008|UMLS:C0005779|UMLS:C0019087|UMLS:C1846821		Abnormal blood coagulation studies|Coagulation abnormalities|Coagulation abnormality|Haemorrhagic disorders|Blood coagulation disorder	http://purl.obolibrary.org/obo/HP_0001928	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	biolink:PhenotypicFeature	hp	MSH:D005173|SNOMEDCT_US:49762007|UMLS:C0015523		Low factor XI activity|Factor XI deficiency	http://purl.obolibrary.org/obo/HP_0001929	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	biolink:PhenotypicFeature	hp	UMLS:C4025735		Nonspherocytic hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0001930	
HP:0001931	Hypochromic anemia	biolink:PhenotypicFeature	hp	MSH:D000747|SNOMEDCT_US:44452003|UMLS:C0002884		Hypochromic anaemia	http://purl.obolibrary.org/obo/HP_0001931	A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
HP:0001933	Subcutaneous hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C0854107		Bleeding below the skin|Subcutaneous haemorrhage	http://purl.obolibrary.org/obo/HP_0001933	This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
HP:0001934	Persistent bleeding after trauma	biolink:PhenotypicFeature	hp	UMLS:C1844374		Excessive bleeding after minor trauma|Frequent bleeding with trauma|Prolonged bleeding after minor trauma	http://purl.obolibrary.org/obo/HP_0001934	
HP:0001935	Microcytic anemia	biolink:PhenotypicFeature	hp	MSH:C562385|SNOMEDCT_US:234349007|UMLS:C0085576		Microcytic anaemia	http://purl.obolibrary.org/obo/HP_0001935	A kind of anemia in which the volume of the red blood cells is reduced.
HP:0001937	Microangiopathic hemolytic anemia	biolink:PhenotypicFeature	hp	MSH:D000743|SNOMEDCT_US:51071000|UMLS:C0221021		Microangiopathic hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0001937	
HP:0001939	Abnormality of metabolism/homeostasis	biolink:PhenotypicFeature	hp	UMLS:C4021768		Laboratory abnormality|Metabolism abnormality	http://purl.obolibrary.org/obo/HP_0001939	
HP:0001941	Acidosis	biolink:PhenotypicFeature	hp	MSH:D000138|SNOMEDCT_US:51387008|UMLS:C0001122			http://purl.obolibrary.org/obo/HP_0001941	Abnormal acid accumulation or depletion of base.
HP:0001942	Metabolic acidosis	biolink:PhenotypicFeature	hp	MSH:D000138|SNOMEDCT_US:59455009|UMLS:C0220981			http://purl.obolibrary.org/obo/HP_0001942	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	biolink:PhenotypicFeature	hp	MSH:D007003|SNOMEDCT_US:237630007|SNOMEDCT_US:271327008|SNOMEDCT_US:302866003|UMLS:C0020615		Low blood sugar|Hypoglycaemia	http://purl.obolibrary.org/obo/HP_0001943	A decreased concentration of glucose in the blood.
HP:0001944	Dehydration	biolink:PhenotypicFeature	hp	MSH:D003681|SNOMEDCT_US:34095006|UMLS:C0011175		Dehydration|Exsiccosis	http://purl.obolibrary.org/obo/HP_0001944	
HP:0001945	Fever	biolink:PhenotypicFeature	hp	MSH:D005334|SNOMEDCT_US:386661006|SNOMEDCT_US:50177009|UMLS:C0015967		Fever|Hyperthermia|Pyrexia	http://purl.obolibrary.org/obo/HP_0001945	Elevated body temperature due to failed thermoregulation.
HP:0001946	Ketosis	biolink:PhenotypicFeature	hp	MSH:D007662|SNOMEDCT_US:213281004|SNOMEDCT_US:2538008|UMLS:C0022638|UMLS:C0235430		High levels of ketone bodies|Hyperketosis	http://purl.obolibrary.org/obo/HP_0001946	Presence of elevated levels of ketone bodies in the body.
HP:0001947	Renal tubular acidosis	biolink:PhenotypicFeature	hp	MSH:D000141|SNOMEDCT_US:1776003|UMLS:C0001126		Accumulation of acid in body due to kidney problem	http://purl.obolibrary.org/obo/HP_0001947	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	biolink:PhenotypicFeature	hp	MSH:D000471|SNOMEDCT_US:21420006|UMLS:C0002063			http://purl.obolibrary.org/obo/HP_0001948	Depletion of acid or accumulation base in the body fluids.
HP:0001949	Hypokalemic alkalosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22774003|UMLS:C0085570			http://purl.obolibrary.org/obo/HP_0001949	
HP:0001950	Respiratory alkalosis	biolink:PhenotypicFeature	hp	MSH:D000472|SNOMEDCT_US:111378004|UMLS:C0002064			http://purl.obolibrary.org/obo/HP_0001950	Alkalosis due to excess loss of carbon dioxide from the body.
HP:0001951	Episodic ammonia intoxication	biolink:PhenotypicFeature	hp	UMLS:C1839541			http://purl.obolibrary.org/obo/HP_0001951	
HP:0001952	Glucose intolerance	biolink:PhenotypicFeature	hp	UMLS:C0235401		Glucose intolerance|Abnormal glucose tolerance	http://purl.obolibrary.org/obo/HP_0001952	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	biolink:PhenotypicFeature	hp	MSH:D016883|SNOMEDCT_US:420422005|UMLS:C0011880		Diabetic ketosis	http://purl.obolibrary.org/obo/HP_0001953	A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
HP:0001954	Recurrent fever	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77957000|UMLS:C0277799		Episodic fever|Increased body temperature, episodic|Intermittent fever|Hyperthermia, episodic	http://purl.obolibrary.org/obo/HP_0001954	Periodic (episodic or recurrent) bouts of fever.
HP:0001955	Unexplained fevers	biolink:PhenotypicFeature	hp	UMLS:C1844662		Unexplained fevers	http://purl.obolibrary.org/obo/HP_0001955	Episodes of fever for which no infectious cause can be identified.
HP:0001956	Truncal obesity	biolink:PhenotypicFeature	hp	MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277		Truncal obesity|Centripetal obesity	http://purl.obolibrary.org/obo/HP_0001956	Obesity located preferentially in the trunk of the body as opposed to the extremities.
HP:0001958	Nonketotic hypoglycemia	biolink:PhenotypicFeature	hp	UMLS:C1865292			http://purl.obolibrary.org/obo/HP_0001958	
HP:0001959	Polydipsia	biolink:PhenotypicFeature	hp	MSH:D059606|SNOMEDCT_US:17173007|SNOMEDCT_US:267026004|UMLS:C0085602		Extreme thirst	http://purl.obolibrary.org/obo/HP_0001959	Excessive thirst manifested by excessive fluid intake.
HP:0001960	Hypokalemic metabolic alkalosis	biolink:PhenotypicFeature	hp	UMLS:C0740898			http://purl.obolibrary.org/obo/HP_0001960	
HP:0001961	Hypoplastic heart	biolink:PhenotypicFeature	hp	UMLS:C3151525		Small heart|Underdeveloped heart	http://purl.obolibrary.org/obo/HP_0001961	
HP:0001962	Palpitations	biolink:PhenotypicFeature	hp	SNOMEDCT_US:80313002|UMLS:C0030252		Missed heart beat|Palpitations|Skipped heart beat|Heart palpitations	http://purl.obolibrary.org/obo/HP_0001962	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	biolink:PhenotypicFeature	hp	UMLS:C1836752		Abnormal speech discrimination|Poor speech discrimination	http://purl.obolibrary.org/obo/HP_0001963	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	biolink:PhenotypicFeature	hp	UMLS:C1860182		Absent/small long bone of foot|Absent/underdeveloped long bone of foot|Absent or hypoplastic metatarsal|Absent/hypoplastic metacarpals|Absent/hypoplastic metatarsals|Aplastic/hypoplastic metatarsals	http://purl.obolibrary.org/obo/HP_0001964	Absence or underdevelopment of the metatarsal bones.
HP:0001965	Abnormal scalp morphology	biolink:PhenotypicFeature	hp	UMLS:C4025734		Abnormality of the scalp|Anomaly of scalp	http://purl.obolibrary.org/obo/HP_0001965	Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.
HP:0001966	Abnormal glomerular mesangium morphology	biolink:PhenotypicFeature	hp	UMLS:C4025733		Abnormality glomerular mesangium morphology|Abnormality of the glomerular mesangium|Mesangial abnormality	http://purl.obolibrary.org/obo/HP_0001966	An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.
HP:0001967	Diffuse mesangial sclerosis	biolink:PhenotypicFeature	hp	MSH:C537346|SNOMEDCT_US:111406002|UMLS:C0268747		Diffuse mesangial sclerosis glomerulopathy|Mesangial sclerosis	http://purl.obolibrary.org/obo/HP_0001967	Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
HP:0001969	Abnormal tubulointerstitial morphology	biolink:PhenotypicFeature	hp	MSH:D009395|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349|UMLS:C4025732		Tubulointerstitial abnormality|Tubulointerstitial nephropathy	http://purl.obolibrary.org/obo/HP_0001969	An abnormality that involves the tubules and interstitial tissue of the kidney.
HP:0001970	Tubulointerstitial nephritis	biolink:PhenotypicFeature	hp	MSH:D009395|SNOMEDCT_US:28689008|SNOMEDCT_US:428255004|UMLS:C0041349		Interstitial nephritis|Nephritis, Tubulointerstitial	http://purl.obolibrary.org/obo/HP_0001970	A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
HP:0001971	Hypersplenism	biolink:PhenotypicFeature	hp	MSH:D006971|SNOMEDCT_US:58381000|UMLS:C0020532			http://purl.obolibrary.org/obo/HP_0001971	A malfunctioning of the spleen in which it prematurely destroys red blood cells.
HP:0001972	Macrocytic anemia	biolink:PhenotypicFeature	hp	MSH:D000748|SNOMEDCT_US:83414005|UMLS:C0002886		Macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0001972	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	biolink:PhenotypicFeature	hp	MSH:D016553|SNOMEDCT_US:128091003|SNOMEDCT_US:13172003|SNOMEDCT_US:234490009|SNOMEDCT_US:32273002|UMLS:C0242584|UMLS:C0398650|UMLS:C0920163		Idiopathic thrombocytopenia|Immune thrombocytopenia|Idiopathic thrombocytopenic purpura	http://purl.obolibrary.org/obo/HP_0001973	The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
HP:0001974	Leukocytosis	biolink:PhenotypicFeature	hp	MSH:D007964|SNOMEDCT_US:111583006|UMLS:C0023518		Elevated white blood count|High white blood count|Increased blood leukocyte number	http://purl.obolibrary.org/obo/HP_0001974	An abnormal increase in the number of leukocytes in the blood.
HP:0001975	Decreased platelet glycoprotein IIb-IIIa	biolink:PhenotypicFeature	hp	MSH:D013915|SNOMEDCT_US:32942005|UMLS:C0040015|UMLS:C4021767		Reduced level of platelet glycoprotein IIb/IIIa complex|Glanzmann thrombasthenia	http://purl.obolibrary.org/obo/HP_0001975	Decreased cell membrane concentration of glycoprotein IIb-IIIa.
HP:0001976	Reduced antithrombin III activity	biolink:PhenotypicFeature	hp	MSH:D020152|SNOMEDCT_US:36351005|UMLS:C0272375		Anti-thrombin III deficiency|Antithrombin III deficiency|Decreased antithrombin III	http://purl.obolibrary.org/obo/HP_0001976	An abnormality of coagulation related to a decreased concentration of antithrombin-III.
HP:0001977	Abnormal thrombosis	biolink:PhenotypicFeature	hp	UMLS:C4025731		Abnormal blood clot|Abnormal blood clotting	http://purl.obolibrary.org/obo/HP_0001977	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124958002|SNOMEDCT_US:42952007|UMLS:C1292120|UMLS:C2613439		Extramedullary erythropoiesis	http://purl.obolibrary.org/obo/HP_0001978	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:167921008|UMLS:C0238801			http://purl.obolibrary.org/obo/HP_0001980	Abnormal increased number of megaloblasts in the bone marrow.
HP:0001981	Schistocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:385472000|UMLS:C0344386		Schistocytes	http://purl.obolibrary.org/obo/HP_0001981	The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.
HP:0001982	Sea-blue histiocytosis	biolink:PhenotypicFeature	hp	MSH:D012618|SNOMEDCT_US:37821003|UMLS:C0036489		'Sea blue' histiocytes|Sea-blue histiocyte	http://purl.obolibrary.org/obo/HP_0001982	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	biolink:PhenotypicFeature	hp	UMLS:C4021766		Cd43 defectively expressed on surface of blood cells|Reduced lymphocyte surface expression of sialophorin	http://purl.obolibrary.org/obo/HP_0001983	A reduction in the expression of CD43 on the cell surface of lymphocytes.
HP:0001984	Intolerance to protein	biolink:PhenotypicFeature	hp	UMLS:C1396243			http://purl.obolibrary.org/obo/HP_0001984	
HP:0001985	Hypoketotic hypoglycemia	biolink:PhenotypicFeature	hp	UMLS:C1856438		Hypoglycemia, hypoketotic	http://purl.obolibrary.org/obo/HP_0001985	A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.
HP:0001986	Hypertonic dehydration	biolink:PhenotypicFeature	hp	UMLS:C1112601		Hyperosmolar dehydration	http://purl.obolibrary.org/obo/HP_0001986	
HP:0001987	Hyperammonemia	biolink:PhenotypicFeature	hp	MSH:D022124|SNOMEDCT_US:9360008|UMLS:C0220994		High blood ammonia levels	http://purl.obolibrary.org/obo/HP_0001987	An increased concentration of ammonia in the blood.
HP:0001988	Recurrent hypoglycemia	biolink:PhenotypicFeature	hp	UMLS:C1846288		Recurrent low blood sugar levels|Hypoglycemic episodes|Recurrent hypoglycaemia|Recurrent hypoglycemic episodes|hypoglycaemia, recurrent|hypoglycemia, recurrent	http://purl.obolibrary.org/obo/HP_0001988	Recurrent episodes of decreased concentration of glucose in the blood.
HP:0001989	Fetal akinesia sequence	biolink:PhenotypicFeature	hp	MSH:C536647|SNOMEDCT_US:401138005|UMLS:C1276035|UMLS:C3151520	hposlim_core	Foetal akinesia sequence|Early severe fetal akinesia sequence|Fetal akinesia	http://purl.obolibrary.org/obo/HP_0001989	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	biolink:PhenotypicFeature	hp	UMLS:C3551148		Absent/small toe|Absent/underdeveloped toe|Aplastic/hypoplastic toe phalanges|Absent/hypoplastic toes	http://purl.obolibrary.org/obo/HP_0001991	Absence or hypoplasia of toes.
HP:0001992	Organic aciduria	biolink:PhenotypicFeature	hp	UMLS:C0241775			http://purl.obolibrary.org/obo/HP_0001992	Excretion of non-amino organic acids in urine.
HP:0001993	Ketoacidosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:56051008|UMLS:C0220982			http://purl.obolibrary.org/obo/HP_0001993	Acidosis resulting from accumulation of ketone bodies.
HP:0001994	Renal Fanconi syndrome	biolink:PhenotypicFeature	hp	MSH:D005198|SNOMEDCT_US:236468006|SNOMEDCT_US:44673006|UMLS:C0341703		'de toni-fanconi-debre' syndrome|Renal tubular fanconi syndrome	http://purl.obolibrary.org/obo/HP_0001994	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18104000|UMLS:C0085569			http://purl.obolibrary.org/obo/HP_0001995	Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.
HP:0001996	Chronic metabolic acidosis	biolink:PhenotypicFeature	hp	UMLS:C0740749			http://purl.obolibrary.org/obo/HP_0001996	Longstanding metabolic acidosis.
HP:0001997	Gout	biolink:PhenotypicFeature	hp	MSH:D006073|MSH:D015210|SNOMEDCT_US:170733007|SNOMEDCT_US:190828008|SNOMEDCT_US:48440001|SNOMEDCT_US:90560007|UMLS:C0003868|UMLS:C0018099		Gouty arthritis	http://purl.obolibrary.org/obo/HP_0001997	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:52767006|UMLS:C0158986		Low blood sugar in newborn	http://purl.obolibrary.org/obo/HP_0001998	
HP:0001999	Abnormal facial shape	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248200007|SNOMEDCT_US:32003007|SNOMEDCT_US:398206004|SNOMEDCT_US:398302004|UMLS:C0266617|UMLS:C0424503|UMLS:C1385263|UMLS:C4072832|UMLS:C4072833	hposlim_core	Deformity of face|Malformation of face|Abnormal facial shape|Unusual facial appearance|Distortion of face|Funny looking face|Abnormal morphology of the face|Distinctive facies|Dysmorphic facial features|Dysmorphic facies|Facial dysmorphism|Unusual facies	http://purl.obolibrary.org/obo/HP_0001999	An abnormal morphology (form) of the face or its components.
HP:0002000	Short columella	biolink:PhenotypicFeature	hp	UMLS:C1857479|UMLS:C4280585	hposlim_core	Columella, short|Decreased length of columella|Hypoplasia of columella	http://purl.obolibrary.org/obo/HP_0002000	Reduced distance from the anterior border of the naris to the subnasale.
HP:0002002	Deep philtrum	biolink:PhenotypicFeature	hp	UMLS:C1839797|UMLS:C4020861	hposlim_core	Increased depth of philtrum|Philtrum, deep|Prominent philtrum|Pronounced philtrum|Depressed philtrum	http://purl.obolibrary.org/obo/HP_0002002	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	biolink:PhenotypicFeature	hp	UMLS:C1839783|UMLS:C4280583|UMLS:C4280584		Increased size of forehead|Large forehead|Increased size of frontal region of face|Hyperplasia of forehead|Hypertrophy of forehead	http://purl.obolibrary.org/obo/HP_0002003	
HP:0002006	Facial cleft	biolink:PhenotypicFeature	hp	SNOMEDCT_US:92821006|UMLS:C0685787	hposlim_core	Cleft of the face|Facial cleft|Facial clefts|Tessier facial cleft	http://purl.obolibrary.org/obo/HP_0002006	A congenital malformation with a cleft (gap or opening) in the face.
HP:0002007	Frontal bossing	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90145001|UMLS:C0221354	hposlim_core	Frontal protruberance|Skull bossing	http://purl.obolibrary.org/obo/HP_0002007	Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
HP:0002009	Potter facies	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24814002|UMLS:C0266619			http://purl.obolibrary.org/obo/HP_0002009	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	biolink:PhenotypicFeature	hp	UMLS:C1851835		Decreased breadth of upper jaw bones|Decreased width of upper jaw bones|Narrow upper jaw bones|Decreased transverse dimension of maxilla|Decreased width of maxilla|Transverse hypoplasia of maxilla|Transverse maxillary deficiency|Transverse maxillary insufficiency	http://purl.obolibrary.org/obo/HP_0002010	
HP:0002011	Morphological central nervous system abnormality	biolink:PhenotypicFeature	hp	MSH:D002493|SNOMEDCT_US:23853001|UMLS:C0007682|UMLS:C4021765		Morphological abnormality of the CNS|Abnormality of the central nervous system|Morphological abnormality of the central nervous system|Central nervous system disease	http://purl.obolibrary.org/obo/HP_0002011	A structural abnormality of the central nervous system.
HP:0002012	Abnormality of the abdominal organs	biolink:PhenotypicFeature	hp	UMLS:C4021764		Abnormality of the abdominal organs|Gastrointestinal tract defects	http://purl.obolibrary.org/obo/HP_0002012	An abnormality of the viscera of the abdomen.
HP:0002013	Vomiting	biolink:PhenotypicFeature	hp	MEDDRA:10047700|MSH:D014839|SNOMEDCT_US:249497008|SNOMEDCT_US:300359004|SNOMEDCT_US:422400008|UMLS:C0042963	hposlim_core	Throwing up|Vomiting|Emesis	http://purl.obolibrary.org/obo/HP_0002013	Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
HP:0002014	Diarrhea	biolink:PhenotypicFeature	hp	MSH:D003967|SNOMEDCT_US:267060006|SNOMEDCT_US:62315008|UMLS:C0011991		Diarrhea|Watery stool|Diarrhoea	http://purl.obolibrary.org/obo/HP_0002014	Abnormally increased frequency of loose or watery bowel movements.
HP:0002015	Dysphagia	biolink:PhenotypicFeature	hp	MEDDRA:10013950|MSH:D003680|SNOMEDCT_US:288939007|SNOMEDCT_US:40739000|UMLS:C0011168	hposlim_core	Poor swallowing|Swallowing difficulties|Swallowing difficulty|Difficulty swallowing|Deglutition disorder	http://purl.obolibrary.org/obo/HP_0002015	Difficulty in swallowing.
HP:0002017	Nausea and vomiting	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16932000|UMLS:C0027498		Nausea and vomiting	http://purl.obolibrary.org/obo/HP_0002017	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	biolink:PhenotypicFeature	hp	MEDDRA:10028813|MSH:D009325|SNOMEDCT_US:422587007|UMLS:C0027497	hposlim_core	Nausea	http://purl.obolibrary.org/obo/HP_0002018	A sensation of unease in the stomach together with an urge to vomit.
HP:0002019	Constipation	biolink:PhenotypicFeature	hp	MSH:D003248|SNOMEDCT_US:14760008|SNOMEDCT_US:225595004|UMLS:C0009806|UMLS:C0237326		Constipation|Costiveness|Dyschezia	http://purl.obolibrary.org/obo/HP_0002019	Infrequent or difficult evacuation of feces.
HP:0002020	Gastroesophageal reflux	biolink:PhenotypicFeature	hp	MSH:D005764|MSH:D006356|SNOMEDCT_US:16331000|SNOMEDCT_US:235595009|SNOMEDCT_US:698065002|UMLS:C0017168|UMLS:C0018834	hposlim_core	GERD|Acid reflux|Acid reflux disease|Heartburn|Gastro-oesophageal reflux|Gastroesophageal reflux disease	http://purl.obolibrary.org/obo/HP_0002020	A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
HP:0002021	Pyloric stenosis	biolink:PhenotypicFeature	hp	Fyler:4444|MEDDRA:10037621|MSH:D011707|SNOMEDCT_US:367403001|UMLS:C0034194	hposlim_core		http://purl.obolibrary.org/obo/HP_0002021	An abnormal narrowing of the pylorus.
HP:0002023	Anal atresia	biolink:PhenotypicFeature	hp	Fyler:4402|Fyler:4443|MEDDRA:10002120|MSH:D001006|SNOMEDCT_US:204712000|SNOMEDCT_US:204731006|UMLS:C0003466	hposlim_core	Absent anus|Imperforate anus	http://purl.obolibrary.org/obo/HP_0002023	Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
HP:0002024	Malabsorption	biolink:PhenotypicFeature	hp	UMLS:C3714745		Intestinal malabsorption|Malabsorption	http://purl.obolibrary.org/obo/HP_0002024	Impaired ability to absorb one or more nutrients from the intestine.
HP:0002025	Anal stenosis	biolink:PhenotypicFeature	hp	MEDDRA:10002176|SNOMEDCT_US:250037002|SNOMEDCT_US:69914001|UMLS:C0262374	hposlim_core	Narrowing of anal opening	http://purl.obolibrary.org/obo/HP_0002025	Abnormal narrowing of the anal opening.
HP:0002027	Abdominal pain	biolink:PhenotypicFeature	hp	MEDDRA:10000081|MSH:D015746|SNOMEDCT_US:21522001|UMLS:C0000737	hposlim_core	Gastro pain|Gastrointestinal pain|Abdominal pain|Pain in stomach|Stomach pain|Abdominal discomfort|Upset stomach	http://purl.obolibrary.org/obo/HP_0002027	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
HP:0002028	Chronic diarrhea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236071009|UMLS:C0401151		Chronic diarrhea|Chronic diarrhoea|Diarrhea, recurrent|Recurrent diarrhea	http://purl.obolibrary.org/obo/HP_0002028	The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
HP:0002031	Abnormal esophagus morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69771008|UMLS:C0266126		Abnormality of esophagus structure|Abnormal oesophagus morphology|Anomaly of the esophagus	http://purl.obolibrary.org/obo/HP_0002031	A structural abnormality of the esophagus.
HP:0002032	Esophageal atresia	biolink:PhenotypicFeature	hp	Fyler:4412|MSH:D004933|SNOMEDCT_US:26179002|UMLS:C0014850		Birth defect in which part of esophagus did not develop	http://purl.obolibrary.org/obo/HP_0002032	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	biolink:PhenotypicFeature	hp	UMLS:C1837142		Poor suck|Poor sucking|Sucking weakness	http://purl.obolibrary.org/obo/HP_0002033	An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
HP:0002034	Abnormal rectum morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86993003|UMLS:C0266210		Abnormality of the rectum|Anomaly of the rectum	http://purl.obolibrary.org/obo/HP_0002034	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	biolink:PhenotypicFeature	hp	MEDDRA:10038077|MSH:D012005|SNOMEDCT_US:57773001|UMLS:C0034888	hposlim_core	Rectum protrudes through anus|Rectal prolapsed	http://purl.obolibrary.org/obo/HP_0002035	Protrusion of the rectal mucous membrane through the anus.
HP:0002036	Hiatus hernia	biolink:PhenotypicFeature	hp	MEDDRA:10020028|MSH:D006551|SNOMEDCT_US:84089009|UMLS:C3489393	hposlim_core	Stomach hernia|Hiatal hernia	http://purl.obolibrary.org/obo/HP_0002036	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	biolink:PhenotypicFeature	hp	MSH:D015212|SNOMEDCT_US:24526004|SNOMEDCT_US:302168000|UMLS:C0021390|UMLS:C0578878		Inflammation of the large intestine|Inflammatory bowel disease	http://purl.obolibrary.org/obo/HP_0002037	Inflammation, or an inflammatory state in the large intestine.
HP:0002038	Protein avoidance	biolink:PhenotypicFeature	hp	UMLS:C1839531			http://purl.obolibrary.org/obo/HP_0002038	
HP:0002039	Anorexia	biolink:PhenotypicFeature	hp	MSH:D000855|SNOMEDCT_US:79890006|UMLS:C0003123		Anorexia	http://purl.obolibrary.org/obo/HP_0002039	A lack or loss of appetite for food (as a medical condition).
HP:0002040	Esophageal varix	biolink:PhenotypicFeature	hp	MEDDRA:10056091|MSH:D004932|SNOMEDCT_US:28670008|UMLS:C0014867	hposlim_core	Enlarged vein in esophagus|Esophageal varices	http://purl.obolibrary.org/obo/HP_0002040	Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
HP:0002041	Intractable diarrhea	biolink:PhenotypicFeature	hp	UMLS:C0743178		Intractable diarrhoea	http://purl.obolibrary.org/obo/HP_0002041	
HP:0002043	Esophageal stricture	biolink:PhenotypicFeature	hp	MSH:D004940|SNOMEDCT_US:63305008|UMLS:C0014866		Narrowing of esophagus due to inflammation and scar tissue	http://purl.obolibrary.org/obo/HP_0002043	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	biolink:PhenotypicFeature	hp	MEDDRA:10048281|MSH:D015043|SNOMEDCT_US:53132006|UMLS:C0043515	hposlim_core		http://purl.obolibrary.org/obo/HP_0002044	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	biolink:PhenotypicFeature	hp	MSH:D007035|SNOMEDCT_US:386689009|UMLS:C0020672		Abnormally low body temperature|Hypothermia	http://purl.obolibrary.org/obo/HP_0002045	Reduced body temperature due to failed thermoregulation.
HP:0002046	Heat intolerance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69215007|UMLS:C0231274	hposlim_core	Heat intolerance|Intolerance to heat and fevers	http://purl.obolibrary.org/obo/HP_0002046	The inability to maintain a comfortably body temperature in warm or hot weather.
HP:0002047	Malignant hyperthermia	biolink:PhenotypicFeature	hp	MSH:D008305|SNOMEDCT_US:213026003|SNOMEDCT_US:405501007|UMLS:C0024591		Malignant hyperthermia with anesthesia	http://purl.obolibrary.org/obo/HP_0002047	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	biolink:PhenotypicFeature	hp	UMLS:C4025730			http://purl.obolibrary.org/obo/HP_0002048	Atrophy of the cortex of the kidney.
HP:0002049	Proximal renal tubular acidosis	biolink:PhenotypicFeature	hp	MSH:D000141|SNOMEDCT_US:24790002|UMLS:C0268435		Proximal tubular acidosis|Renal tubular acidosis, proximal|Renal tubular acidosis, type II	http://purl.obolibrary.org/obo/HP_0002049	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	biolink:PhenotypicFeature	hp	UMLS:C1839782			http://purl.obolibrary.org/obo/HP_0002050	
HP:0002054	Heavy supraorbital ridges	biolink:PhenotypicFeature	hp	UMLS:C1845107		Heavy brow of the face|Heavy supraorbital ridge	http://purl.obolibrary.org/obo/HP_0002054	
HP:0002055	Curved linear dimple below the lower lip	biolink:PhenotypicFeature	hp	UMLS:C1844572			http://purl.obolibrary.org/obo/HP_0002055	
HP:0002056	Abnormality of the glabella	biolink:PhenotypicFeature	hp	UMLS:C4021763		Abnormality of the area between the eyebrows|Deformity of the area between the eyebrows|Malformation of the area between the eyebrows|Glabellar abnormality	http://purl.obolibrary.org/obo/HP_0002056	An abnormality of the glabella.
HP:0002057	Prominent glabella	biolink:PhenotypicFeature	hp	UMLS:C1860247	hposlim_core	Prominent area between the eyebrows|Protruding area between the eyebrows|Convex glabella|Hyperplasia of glabella	http://purl.obolibrary.org/obo/HP_0002057	Forward protrusion of the glabella.
HP:0002058	Myopathic facies	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26432009|UMLS:C0332615		Myopathic face|Myopathic facial appearance	http://purl.obolibrary.org/obo/HP_0002058	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946|UMLS:C4020860		Degeneration of cerebrum|Supratentorial atrophy	http://purl.obolibrary.org/obo/HP_0002059	Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
HP:0002060	Abnormal cerebral morphology	biolink:PhenotypicFeature	hp	UMLS:C4021762		Abnormality of the cerebrum|Abnormality of the telencephalon	http://purl.obolibrary.org/obo/HP_0002060	Any structural abnormality of the telencephalon, which is also known as the cerebrum.
HP:0002061	Lower limb spasticity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:394679006|UMLS:C1271100			http://purl.obolibrary.org/obo/HP_0002061	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	biolink:PhenotypicFeature	hp	UMLS:C4020859|UMLS:C4021761		Abnormality of the pyramidal tracts|Pyramidal tract disease	http://purl.obolibrary.org/obo/HP_0002062	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	biolink:PhenotypicFeature	hp	MSH:D009127|SNOMEDCT_US:16046003|UMLS:C0026837		Muscle rigidity|Rigidity	http://purl.obolibrary.org/obo/HP_0002063	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	biolink:PhenotypicFeature	hp	MSH:D020233|SNOMEDCT_US:9447003|UMLS:C0231687		Spastic walk	http://purl.obolibrary.org/obo/HP_0002064	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	biolink:PhenotypicFeature	hp	MSH:D020234|SNOMEDCT_US:25136009|UMLS:C0751837		Inability to coordinate movements when walking|Ataxia of gait|Ataxic gait	http://purl.obolibrary.org/obo/HP_0002066	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	biolink:PhenotypicFeature	hp	MSH:D018476|SNOMEDCT_US:399317006|UMLS:C0233565		Slow movements|Slowness of movements	http://purl.obolibrary.org/obo/HP_0002067	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	biolink:PhenotypicFeature	hp	UMLS:C4025729			http://purl.obolibrary.org/obo/HP_0002068	
HP:0002069	Bilateral tonic-clonic seizure	biolink:PhenotypicFeature	hp	MSH:D012640|SNOMEDCT_US:54200006|UMLS:C0494475		Grand mal seizures|Tonic-clonic convulsions|Bilateral convulsive seizures|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Generalized tonic-clonic seizure (without specification of onset)|Grand mal|Seizures, tonic-clonic|Tonic-clonic convulsion	http://purl.obolibrary.org/obo/HP_0002069	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	biolink:PhenotypicFeature	hp	MSH:D001259|UMLS:C0750937		Appendicular ataxia	http://purl.obolibrary.org/obo/HP_0002070	A kind of ataxia that affects movements of the extremities.
HP:0002071	Abnormality of extrapyramidal motor function	biolink:PhenotypicFeature	hp	MSH:D001480|SNOMEDCT_US:43378000|SNOMEDCT_US:76349003|UMLS:C0015371|UMLS:C0234133		Extrapyramidal dysfunction|Extrapyramidal signs|Extrapyramidal symptoms|Extrapyramidal syndrome|Extrapyramidal tract signs	http://purl.obolibrary.org/obo/HP_0002071	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	biolink:PhenotypicFeature	hp	MSH:D002819|SNOMEDCT_US:271700006|UMLS:C0008489|UMLS:C4020858		Choreic movements|Choreiform movements|Choreatic disease	http://purl.obolibrary.org/obo/HP_0002072	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:230233000|UMLS:C0393525		Cerebellar ataxia, progressive|Progressive ataxia	http://purl.obolibrary.org/obo/HP_0002073	
HP:0002074	Increased neuronal autofluorescent lipopigment	biolink:PhenotypicFeature	hp	UMLS:C4020857|UMLS:C4025728		Neuronal lipopigments	http://purl.obolibrary.org/obo/HP_0002074	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:23133003|UMLS:C0234979		Difficulty performing quick and alternating movements|Dysdiadochokinesia	http://purl.obolibrary.org/obo/HP_0002075	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	biolink:PhenotypicFeature	hp	MSH:D008881|SNOMEDCT_US:37796009|UMLS:C0149931|UMLS:C0744641		Intermittent migraine headaches|Migraine|Migraine headache|Migraine headaches	http://purl.obolibrary.org/obo/HP_0002076	Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
HP:0002077	Migraine with aura	biolink:PhenotypicFeature	hp	MSH:D020325|SNOMEDCT_US:4473006|UMLS:C0154723			http://purl.obolibrary.org/obo/HP_0002077	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	biolink:PhenotypicFeature	hp	MSH:D001259|SNOMEDCT_US:250067008|UMLS:C0427190		Instability or lack of coordination of central trunk muscles|Trunk ataxia	http://purl.obolibrary.org/obo/HP_0002078	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204043002|UMLS:C0344482		Underdevelopment of part of brain called corpus callosum|Corpus callosum hypoplasia|Hypoplasia of corpus callosum|Hypoplastic corpus callosum|Small corpus callosum|Thin corpus callosum|Thinning of the corpus callosum	http://purl.obolibrary.org/obo/HP_0002079	Underdevelopment of the corpus callosum.
HP:0002080	Intention tremor	biolink:PhenotypicFeature	hp	MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020856		Cerebellar tremor|Terminal tremor	http://purl.obolibrary.org/obo/HP_0002080	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	biolink:PhenotypicFeature	hp	MSH:D020326|SNOMEDCT_US:56097005|UMLS:C0338480			http://purl.obolibrary.org/obo/HP_0002083	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	biolink:PhenotypicFeature	hp	MSH:D004677|SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|SNOMEDCT_US:55999004|UMLS:C0014065		Bifid skull|Cranium bifidum	http://purl.obolibrary.org/obo/HP_0002084	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	biolink:PhenotypicFeature	hp	MSH:D004677|SNOMEDCT_US:42376006|UMLS:C0014067		Brain tissue sticks out through back of skull|Occipital meningoencephalocele|Posterior encephalocele	http://purl.obolibrary.org/obo/HP_0002085	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	biolink:PhenotypicFeature	hp	UMLS:C4018871		Respiratory abnormality	http://purl.obolibrary.org/obo/HP_0002086	An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
HP:0002087	Abnormality of the upper respiratory tract	biolink:PhenotypicFeature	hp	UMLS:C4025727		Abnormality of the upper respiratory tract|Upper respiratory tract issues	http://purl.obolibrary.org/obo/HP_0002087	An abnormality of the upper respiratory tract.
HP:0002088	Abnormal lung morphology	biolink:PhenotypicFeature	hp	MSH:D008171|SNOMEDCT_US:19829001|UMLS:C0024115|UMLS:C4021760		Abnormality of lung structure|Abnormality of the lungs|Abnormally shaped lung|Unusal lung shape|Lung disease	http://purl.obolibrary.org/obo/HP_0002088	Any structural anomaly of the lung.
HP:0002089	Pulmonary hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:80825009|UMLS:C0265783		Poorly developed lungs|Small lung|Underdeveloped lung|Hypoplastic lung|Hypoplastic lungs|Lung hypoplasia	http://purl.obolibrary.org/obo/HP_0002089	
HP:0002090	Pneumonia	biolink:PhenotypicFeature	hp	MSH:D011014|SNOMEDCT_US:233604007|UMLS:C0032285		Pneumonia	http://purl.obolibrary.org/obo/HP_0002090	Inflammation of any part of the lung parenchyma.
HP:0002091	Restrictive ventilatory defect	biolink:PhenotypicFeature	hp	SNOMEDCT_US:36485005|UMLS:C0085581|UMLS:C3277226		Stiff lung or chest wall causing decreased lung volume|Restrictive deficit on pulmonary function testing|Restrictive deficit on pulmonary function tests|Restrictive respiratory disease|Restrictive respiratory insufficiency|Restrictive respiratory syndrome|Spirometric restriction|Restrictive lung disease	http://purl.obolibrary.org/obo/HP_0002091	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	biolink:PhenotypicFeature	hp	MSH:D006976|MSH:D065627|SNOMEDCT_US:11399002|SNOMEDCT_US:697898008|SNOMEDCT_US:70995007|UMLS:C0020542|UMLS:C2973725|UMLS:C3203102		Increased blood pressure in blood vessels of lungs|Pulmonary artery hypertension|Primary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0002092	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	biolink:PhenotypicFeature	hp	MSH:D012131|SNOMEDCT_US:409623005|UMLS:C0035229|UMLS:C4020855		Respiratory impairment|Respiratory function loss|progressive respiratory failure	http://purl.obolibrary.org/obo/HP_0002093	
HP:0002094	Dyspnea	biolink:PhenotypicFeature	hp	MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|UMLS:C0013404		Trouble breathing|Dyspnoea|Abnormal breathing|Breathing difficulty|Difficult to breathe	http://purl.obolibrary.org/obo/HP_0002094	Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
HP:0002097	Emphysema	biolink:PhenotypicFeature	hp	MSH:D011656|SNOMEDCT_US:87433001|UMLS:C0034067		Pulmonary emphysema	http://purl.obolibrary.org/obo/HP_0002097	
HP:0002098	Respiratory distress	biolink:PhenotypicFeature	hp	MSH:D004417|SNOMEDCT_US:230145002|SNOMEDCT_US:267036007|SNOMEDCT_US:271825005|UMLS:C0013404|UMLS:C0476273		Breathing difficulties|Difficulty breathing|Short of breath|Shortness of breath|Respiratory difficulties	http://purl.obolibrary.org/obo/HP_0002098	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	biolink:PhenotypicFeature	hp	MSH:D001249|SNOMEDCT_US:195967001|SNOMEDCT_US:991000119106|UMLS:C0004096|UMLS:C3714497		Asthma|Bronchial asthma|Reactive airway disease	http://purl.obolibrary.org/obo/HP_0002099	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:430969000|UMLS:C0747651			http://purl.obolibrary.org/obo/HP_0002100	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:91842005|UMLS:C0685695		Defective lung lobation|Lung segmentation defects	http://purl.obolibrary.org/obo/HP_0002101	A developmental defect in the formation of pulmonary lobes.
HP:0002102	Pleuritis	biolink:PhenotypicFeature	hp	MSH:D010998|SNOMEDCT_US:196075003|UMLS:C0032231		Inflammation of tissues lining lungs and chest|Pleurisy	http://purl.obolibrary.org/obo/HP_0002102	Inflammation of the pleura.
HP:0002103	Abnormal pleura morphology	biolink:PhenotypicFeature	hp	UMLS:C4025726		Abnormality of the pleura	http://purl.obolibrary.org/obo/HP_0002103	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	biolink:PhenotypicFeature	hp	MSH:D001049|SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|UMLS:C0003578		Absence of spontaneous respiration|Apneic episodes|Apnoea	http://purl.obolibrary.org/obo/HP_0002104	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	biolink:PhenotypicFeature	hp	MSH:D006469|SNOMEDCT_US:66857006|SNOMEDCT_US:6686005|UMLS:C0019079		Coughing up blood|Haemoptysis|Coughing up blood or blood-stained mucus	http://purl.obolibrary.org/obo/HP_0002105	Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
HP:0002107	Pneumothorax	biolink:PhenotypicFeature	hp	MSH:D011030|SNOMEDCT_US:36118008|UMLS:C0032326		Collapsed lung	http://purl.obolibrary.org/obo/HP_0002107	Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
HP:0002108	Spontaneous pneumothorax	biolink:PhenotypicFeature	hp	MSH:D011030|SNOMEDCT_US:80423007|UMLS:C0149781		Spontaneous collapsed lung	http://purl.obolibrary.org/obo/HP_0002108	Pneumothorax occurring without traumatic injury to the chest or lung.
HP:0002109	obsolete Abnormality of the bronchi	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002109	
HP:0002110	Bronchiectasis	biolink:PhenotypicFeature	hp	MSH:D001987|SNOMEDCT_US:12295008|UMLS:C0006267		Permanent enlargement of the airways of the lungs	http://purl.obolibrary.org/obo/HP_0002110	Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
HP:0002111	obsolete Restrictive deficit on pulmonary function testing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002111	
HP:0002113	Pulmonary infiltrates	biolink:PhenotypicFeature	hp	UMLS:C0235896		Lung infiltrates|Pulmonic infiltration	http://purl.obolibrary.org/obo/HP_0002113	
HP:0002118	Abnormality of the cerebral ventricles	biolink:PhenotypicFeature	hp	UMLS:C4025724			http://purl.obolibrary.org/obo/HP_0002118	Abnormality of the cerebral ventricles.
HP:0002119	Ventriculomegaly	biolink:PhenotypicFeature	hp	UMLS:C3278923		Cerebral ventricular dilatation|Dilated cerebral ventricle|Dilated cerebral ventricles|Dilated ventricles|Enlarged cerebral ventricles|Enlarged ventricles|Enlarged ventricular system|Large cerebral ventricles and cisternae|Ventricular dilatation	http://purl.obolibrary.org/obo/HP_0002119	An increase in size of the ventricular system of the brain.
HP:0002120	Cerebral cortical atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:278849000|UMLS:C0235946		Decrease in size of the outer layer of the brain due to loss of brain cells|Cerebral cortex atrophy|Cortical atrophy	http://purl.obolibrary.org/obo/HP_0002120	Atrophy of the cortex of the cerebrum.
HP:0002121	Generalized non-motor (absence) seizure	biolink:PhenotypicFeature	hp	MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|UMLS:C0014553		Brief seizures with staring spells|Absence seizures|Petit mal seizures|Generalised non-motor (absence) seizure|Generalised non-motor seizure|Absence seizure|Petit mal|Petit mal seizure	http://purl.obolibrary.org/obo/HP_0002121	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	biolink:PhenotypicFeature	hp	MSH:D004831|MSH:D020191|SNOMEDCT_US:192992007|SNOMEDCT_US:267581004|SNOMEDCT_US:37356005|UMLS:C0014550|UMLS:C0751778|UMLS:C4021759		Generalized myoclonic seizures|Generalised myoclonic seizures|Generalised epileptic myoclonus|Generalised myoclonic seizure|Generalized epileptic myoclonus|Myoclonus seizures|Myoclonic epilepsy, progressive	http://purl.obolibrary.org/obo/HP_0002123	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	biolink:PhenotypicFeature	hp	MSH:D065706|SNOMEDCT_US:4945003|UMLS:C0266464		More grooves in brain	http://purl.obolibrary.org/obo/HP_0002126	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	biolink:PhenotypicFeature	hp	UMLS:C4025723		Abnormal shape of upper motor neuron	http://purl.obolibrary.org/obo/HP_0002127	Any structural anomaly that affects the upper motor neuron.
HP:0002131	Episodic ataxia	biolink:PhenotypicFeature	hp	MSH:C580065|SNOMEDCT_US:421455009|UMLS:C1720189		Intermittent cerebellar ataxia|Paroxysmal ataxia	http://purl.obolibrary.org/obo/HP_0002131	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	biolink:PhenotypicFeature	hp	MSH:D065708|UMLS:C4082173		Cavity within brain	http://purl.obolibrary.org/obo/HP_0002132	A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
HP:0002133	Status epilepticus	biolink:PhenotypicFeature	hp	MSH:D013226|SNOMEDCT_US:230456007|UMLS:C0038220		Repeated seizures without recovery between them|Prolonged seizure|Repeated seizure without recovery	http://purl.obolibrary.org/obo/HP_0002133	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	Abnormality of the basal ganglia	biolink:PhenotypicFeature	hp	MSH:D001480|SNOMEDCT_US:70835005|UMLS:C0004782		Anomaly of the basal ganglia|Basal ganglia disease	http://purl.obolibrary.org/obo/HP_0002134	Abnormality of the basal ganglia.
HP:0002135	Basal ganglia calcification	biolink:PhenotypicFeature	hp	UMLS:C1389280		Basal ganglia calcifications|Basal ganglion calcification|Calcification of the basal ganglia	http://purl.obolibrary.org/obo/HP_0002135	The presence of calcium deposition affecting one or more structures of the basal ganglia.
HP:0002136	Broad-based gait	biolink:PhenotypicFeature	hp	UMLS:C0856863		Wide based walk|Broad based gait|Wide based gait|Wide-based gait	http://purl.obolibrary.org/obo/HP_0002136	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	biolink:PhenotypicFeature	hp	MSH:D013345|SNOMEDCT_US:21454007|UMLS:C0038525		Subarachnoid haemorrhage	http://purl.obolibrary.org/obo/HP_0002138	Hemorrhage occurring between the arachnoid mater and the pia mater.
HP:0002139	Arrhinencephaly	biolink:PhenotypicFeature	hp	MSH:D016142|UMLS:C0078982			http://purl.obolibrary.org/obo/HP_0002139	
HP:0002140	Ischemic stroke	biolink:PhenotypicFeature	hp	SNOMEDCT_US:422504002|UMLS:C0948008		Ischaemic stroke	http://purl.obolibrary.org/obo/HP_0002140	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	biolink:PhenotypicFeature	hp	UMLS:C1836150		Abnormality of balance|Abnormality of equilibrium|Imbalanced walk	http://purl.obolibrary.org/obo/HP_0002141	
HP:0002143	Abnormality of the spinal cord	biolink:PhenotypicFeature	hp	MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928|UMLS:C4025722		Abnormality of the spinal cord|Spinal cord disease|Spinal cord pathology	http://purl.obolibrary.org/obo/HP_0002143	An abnormality of the spinal cord (myelon).
HP:0002144	Tethered cord	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:70534000|UMLS:C0080218		Occult spinal dysraphism	http://purl.obolibrary.org/obo/HP_0002144	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	biolink:PhenotypicFeature	hp	MSH:D057180|SNOMEDCT_US:230270009|UMLS:C0338451			http://purl.obolibrary.org/obo/HP_0002145	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	biolink:PhenotypicFeature	hp	MSH:D017674|SNOMEDCT_US:4996001|UMLS:C0085682		Low blood phosphate level|Hypophosphataemia	http://purl.obolibrary.org/obo/HP_0002148	An abnormally decreased phosphate concentration in the blood.
HP:0002149	Hyperuricemia	biolink:PhenotypicFeature	hp	MSH:D033461|SNOMEDCT_US:35885006|UMLS:C0740394		High blood uric acid level|Hyperuricaemia	http://purl.obolibrary.org/obo/HP_0002149	An abnormally high level of uric acid in the blood.
HP:0002150	Hypercalciuria	biolink:PhenotypicFeature	hp	MSH:D053565|SNOMEDCT_US:71938000|UMLS:C0020438		Elevated urine calcium levels|Hypercalcinuria	http://purl.obolibrary.org/obo/HP_0002150	
HP:0002151	Increased serum lactate	biolink:PhenotypicFeature	hp	UMLS:C1836440		Higher than normal levels of lactate in blood|Increased blood lactate	http://purl.obolibrary.org/obo/HP_0002151	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37064009|UMLS:C0267988			http://purl.obolibrary.org/obo/HP_0002152	An increased concentration of proteins in the blood.
HP:0002153	Hyperkalemia	biolink:PhenotypicFeature	hp	MSH:D006947|SNOMEDCT_US:14140009|SNOMEDCT_US:166689004|SNOMEDCT_US:238142003|UMLS:C0020461		Elevated serum potassium levels	http://purl.obolibrary.org/obo/HP_0002153	An abnormally increased potassium concentration in the blood.
HP:0002154	Hyperglycinemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:64654004|UMLS:C0268559		Elevated blood glycine levels|Hyperglycinaemia	http://purl.obolibrary.org/obo/HP_0002154	An elevated concentration of glycine in the blood.
HP:0002155	Hypertriglyceridemia	biolink:PhenotypicFeature	hp	UMLS:C1522137		Increased circulating Tg levels|Increased plasma Tg levels|Increased plasma triglycerides|Increased serum triglycerides|Increased triglycerides	http://purl.obolibrary.org/obo/HP_0002155	An abnormal increase in the level of triglycerides in the blood.
HP:0002156	Homocystinuria	biolink:PhenotypicFeature	hp	MSH:D006712|SNOMEDCT_US:11282001|UMLS:C0019880		High urine homocystine levels	http://purl.obolibrary.org/obo/HP_0002156	An increased concentration of homocystine in the urine.
HP:0002157	Azotemia	biolink:PhenotypicFeature	hp	MSH:D053099|SNOMEDCT_US:445009001|UMLS:C0242528		Azotaemia	http://purl.obolibrary.org/obo/HP_0002157	An increased concentration of nitrogen compounds in the blood.
HP:0002159	Heparan sulfate excretion in urine	biolink:PhenotypicFeature	hp	UMLS:C1854827		Heparan sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0002159	An increased concentration of heparan sulfates in the urine.
HP:0002160	Hyperhomocystinemia	biolink:PhenotypicFeature	hp	UMLS:C3806347		Elevated blood homocystine|Homocystinemia	http://purl.obolibrary.org/obo/HP_0002160	An increased concentration of homocystine in the blood.
HP:0002161	Hyperlysinemia	biolink:PhenotypicFeature	hp	MSH:D020167|SNOMEDCT_US:58558003|UMLS:C0268553		Elevated blood lysine	http://purl.obolibrary.org/obo/HP_0002161	An increased concentration of lysine in the blood.
HP:0002162	Low posterior hairline	biolink:PhenotypicFeature	hp	UMLS:C1855728	hposlim_core	Low hairline at back of neck|Low posterior hair line	http://purl.obolibrary.org/obo/HP_0002162	Hair on the neck extends more inferiorly than usual.
HP:0002164	Nail dysplasia	biolink:PhenotypicFeature	hp	UMLS:C1834405		Atypical nail growth|Dysplastic nails|Onychodysplasia	http://purl.obolibrary.org/obo/HP_0002164	The presence of developmental dysplasia of the nail.
HP:0002165	Pterygium of nails	biolink:PhenotypicFeature	hp	SNOMEDCT_US:110987009|UMLS:C0406438		Nail pterygium	http://purl.obolibrary.org/obo/HP_0002165	Inward advance of skin over the nail plate.
HP:0002166	Impaired vibration sensation in the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C1849134		Decreased lower limb vibratory sense|Decreased vibratory sense in lower limbs|Decreased vibratory sense in the lower extremities|Decreased vibratory sense in the lower limbs|Diminished vibratory sensation in the legs|Impaired vibration sensation in the lower limbs|Distal sensory loss, especially vibratory sense|Distal vibratory impairment of the lower limbs	http://purl.obolibrary.org/obo/HP_0002166	A decrease in the ability to perceive vibration in the legs.
HP:0002167	Neurological speech impairment	biolink:PhenotypicFeature	hp	MSH:D013064|UMLS:C0037822		Speech disorder|Speech impairment|Speech impediment	http://purl.obolibrary.org/obo/HP_0002167	
HP:0002168	Scanning speech	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102935005|SNOMEDCT_US:77420001|UMLS:C0278184|UMLS:C0522198		Explosive speech	http://purl.obolibrary.org/obo/HP_0002168	
HP:0002169	Clonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:36649002|UMLS:C0009024		Involuntary rhythmic muscular contractions and relaxations	http://purl.obolibrary.org/obo/HP_0002169	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	biolink:PhenotypicFeature	hp	MSH:D020300|SNOMEDCT_US:1386000|UMLS:C0151699		Bleeding within the skull|Intracranial haemorrhage	http://purl.obolibrary.org/obo/HP_0002170	Hemorrhage occurring within the skull.
HP:0002171	Gliosis	biolink:PhenotypicFeature	hp	MSH:D005911|SNOMEDCT_US:359580009|SNOMEDCT_US:81415000|UMLS:C0017639		Cerebral gliosis|Excess astrocytes in brain	http://purl.obolibrary.org/obo/HP_0002171	Gliosis is the focal proliferation of glial cells in the central nervous system.
HP:0002172	Postural instability	biolink:PhenotypicFeature	hp	UMLS:C1843921		Balance impairment|Abnormal retropulsion test|Imbalance	http://purl.obolibrary.org/obo/HP_0002172	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	biolink:PhenotypicFeature	hp	UMLS:C0877056			http://purl.obolibrary.org/obo/HP_0002173	
HP:0002174	Postural tremor	biolink:PhenotypicFeature	hp	MSH:D014202|SNOMEDCT_US:56610005|UMLS:C0234378		Tremor, postural	http://purl.obolibrary.org/obo/HP_0002174	A type of tremors that is triggered by holding a limb in a fixed position.
HP:0002176	Spinal cord compression	biolink:PhenotypicFeature	hp	MSH:D013117|SNOMEDCT_US:71286001|UMLS:C0037926		Pressure on spinal cord	http://purl.obolibrary.org/obo/HP_0002176	External mechanical compression of the spinal cord.
HP:0002179	Opisthotonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8652009|UMLS:C0151818		Opisthotonos	http://purl.obolibrary.org/obo/HP_0002179	
HP:0002180	Neurodegeneration	biolink:PhenotypicFeature	hp	MSH:D009410|MSH:D019636|UMLS:C0027746|UMLS:C0524851|UMLS:C4020854		Ongoing loss of nerve cells|Neuro-degenerative disease|Neurodegenerative disease|Progressive neurodegenerative disorder	http://purl.obolibrary.org/obo/HP_0002180	Progressive loss of neural cells and tissue.
HP:0002181	Cerebral edema	biolink:PhenotypicFeature	hp	MSH:D001929|SNOMEDCT_US:2032001|UMLS:C0006114|UMLS:C1527311		Brain swelling|Swelling of brain|Cerebral oedema|Brain edema|Brain oedema	http://purl.obolibrary.org/obo/HP_0002181	Abnormal accumulation of fluid in the brain.
HP:0002183	Phonophobia	biolink:PhenotypicFeature	hp	MSH:D012001|SNOMEDCT_US:313387002|UMLS:C0751466		Fear of loud sounds	http://purl.obolibrary.org/obo/HP_0002183	An abnormally heightened sensitivity to loud sounds.
HP:0002185	Neurofibrillary tangles	biolink:PhenotypicFeature	hp	MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400		Neurofibrillary tangles composed of disordered microtubules in neurons|Paired helical filaments	http://purl.obolibrary.org/obo/HP_0002185	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	biolink:PhenotypicFeature	hp	MSH:D001072|SNOMEDCT_US:68345001|SNOMEDCT_US:6950007|UMLS:C0003635		Apraxias	http://purl.obolibrary.org/obo/HP_0002186	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	biolink:PhenotypicFeature	hp	MSH:D008607|SNOMEDCT_US:31216003|UMLS:C0020796|UMLS:C3161330		IQ less than 20|Mental retardation, profound|Profound mental retardation	http://purl.obolibrary.org/obo/HP_0002187	Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
HP:0002188	Delayed CNS myelination	biolink:PhenotypicFeature	hp	UMLS:C4021758		Delay in central nervous system myelination	http://purl.obolibrary.org/obo/HP_0002188	Delayed myelination in the central nervous system.
HP:0002189	obsolete Excessive daytime sleepiness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002189	
HP:0002190	Choroid plexus cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:230790004|UMLS:C0338597			http://purl.obolibrary.org/obo/HP_0002190	A cyst occurring within the choroid plexus within a cerebral ventricle.
HP:0002191	Progressive spasticity	biolink:PhenotypicFeature	hp	UMLS:C1859520		Spasticity, progressive	http://purl.obolibrary.org/obo/HP_0002191	Spasticity that increases in degree with time.
HP:0002193	Pseudobulbar behavioral symptoms	biolink:PhenotypicFeature	hp	UMLS:C4025720		Pseudobulbar behavioural symptoms	http://purl.obolibrary.org/obo/HP_0002193	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:430099007|UMLS:C1837658		Delayed motor skills|Delayed gross motor skills|Developmental delay, gross motor|Gross motor delay|Limited gross motor development	http://purl.obolibrary.org/obo/HP_0002194	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	biolink:PhenotypicFeature	hp	UMLS:C4025719			http://purl.obolibrary.org/obo/HP_0002195	Defective development of the vermis of cerebellum.
HP:0002196	Myelopathy	biolink:PhenotypicFeature	hp	MSH:D013118|SNOMEDCT_US:48522003|UMLS:C0037928			http://purl.obolibrary.org/obo/HP_0002196	
HP:0002197	Generalized-onset seizure	biolink:PhenotypicFeature	hp	MSH:D012640|SNOMEDCT_US:246545002|UMLS:C0234533|UMLS:C1833488		Generalized seizures|Generalized-onset seizures|Generalised onset seizure|Generalised-onset seizure|Generalized onset seizure|Primary generalized seizure	http://purl.obolibrary.org/obo/HP_0002197	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	biolink:PhenotypicFeature	hp	UMLS:C1847117		Enlarged fourth ventricle	http://purl.obolibrary.org/obo/HP_0002198	An abnormal dilatation of the fourth cerebral ventricle.
HP:0002199	Hypocalcemic seizures	biolink:PhenotypicFeature	hp	UMLS:C1855841		Low calcium seizures|Seizures due to hypocalcemia	http://purl.obolibrary.org/obo/HP_0002199	
HP:0002200	Pseudobulbar signs	biolink:PhenotypicFeature	hp	UMLS:C1838579		Pseudobulbar symptoms	http://purl.obolibrary.org/obo/HP_0002200	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	biolink:PhenotypicFeature	hp	MSH:D010996|SNOMEDCT_US:60046008|UMLS:C0032227		Fluid around lungs	http://purl.obolibrary.org/obo/HP_0002202	The presence of an excessive amount of fluid in the pleural cavity.
HP:0002203	Respiratory paralysis	biolink:PhenotypicFeature	hp	MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232			http://purl.obolibrary.org/obo/HP_0002203	Inability to move the muscles of respiration.
HP:0002204	Pulmonary embolism	biolink:PhenotypicFeature	hp	MSH:D011655|SNOMEDCT_US:59282003|UMLS:C0034065		Blood clot in artery of lung	http://purl.obolibrary.org/obo/HP_0002204	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	biolink:PhenotypicFeature	hp	UMLS:C3806482		Frequent respiratory infections|Multiple respiratory infections|Recurrent respiratory infections|Susceptibility to respiratory infections|respiratory infections, recurrent	http://purl.obolibrary.org/obo/HP_0002205	An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
HP:0002206	Pulmonary fibrosis	biolink:PhenotypicFeature	hp	MSH:D011658|SNOMEDCT_US:51615001|UMLS:C0034069			http://purl.obolibrary.org/obo/HP_0002206	Replacement of normal lung tissues by fibroblasts and collagen.
HP:0002207	Diffuse reticular or finely nodular infiltrations	biolink:PhenotypicFeature	hp	UMLS:C1843428			http://purl.obolibrary.org/obo/HP_0002207	
HP:0002208	Coarse hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48610005|UMLS:C0277959|UMLS:C4072834	hposlim_core	Rough hair texture|Coarse hair|Coarse hair texture	http://purl.obolibrary.org/obo/HP_0002208	Hair shafts are rough in texture.
HP:0002209	Sparse scalp hair	biolink:PhenotypicFeature	hp	UMLS:C1857042|UMLS:C1873509		Reduced/lack of hair on scalp|Scalp hair, thinning|Sparse scalp hair|Sparse, thin scalp hair|sparse-absent scalp hair|Thin scalp hair|Decreased number of scalp follicles|Hypotrichosis on scalp|Reduction in the number of scalp follicles|Scalp hypotrichosis	http://purl.obolibrary.org/obo/HP_0002209	Decreased number of hairs per unit area of skin of the scalp.
HP:0002211	White forelock	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247564004|UMLS:C0344312	hposlim_core	White part of hair above forehead|Poliosis of anterior hair|Poliosis of forelock hair	http://purl.obolibrary.org/obo/HP_0002211	A triangular depigmented region of white hairs located in the anterior midline of the scalp.
HP:0002212	Curly hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:225570000|UMLS:C0558165		Curly hair	http://purl.obolibrary.org/obo/HP_0002212	
HP:0002213	Fine hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247546006|UMLS:C0423867	hposlim_core	Fine hair|Fine hair shaft|Fine hair texture|Thin hair shaft|Thin hair texture|Thin hair|Thinned hair	http://purl.obolibrary.org/obo/HP_0002213	Hair that is fine or thin to the touch.
HP:0002215	Sparse axillary hair	biolink:PhenotypicFeature	hp	UMLS:C1858574		Limited armpit hair|Little underarm hair|Sparse axillary and pubic hair|Sparse scalp, axillary, and pubic hair|sparse to absent axillary hair	http://purl.obolibrary.org/obo/HP_0002215	Reduced number or density of axillary hair.
HP:0002216	Premature graying of hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:387833009|UMLS:C0263498	hposlim_core	Early graying|Premature graying|Premature graying of hair|Premature greying|Premature hair graying|Premature greying of hair|Premature graying of the hair	http://purl.obolibrary.org/obo/HP_0002216	Development of gray hair at a younger than normal age.
HP:0002217	Slow-growing hair	biolink:PhenotypicFeature	hp	UMLS:C1832348	hposlim_core	Slow growing hair|Slow rate of hair growth|Slow speed of hair growth|Slow-growing hair	http://purl.obolibrary.org/obo/HP_0002217	Hair whose growth is slower than normal.
HP:0002218	Silver-gray hair	biolink:PhenotypicFeature	hp	UMLS:C1836576		Silver-gray hair|Silver-gray hair color|Silvery-gray hair	http://purl.obolibrary.org/obo/HP_0002218	Hypopigmented hair that appears silver-gray.
HP:0002219	Facial hypertrichosis	biolink:PhenotypicFeature	hp	MSH:C565029|UMLS:C1851400		Increased facial hair growth	http://purl.obolibrary.org/obo/HP_0002219	Excessive, increased hair growth located in the facial region.
HP:0002220	Melanin pigment aggregation in hair shafts	biolink:PhenotypicFeature	hp	UMLS:C1843390			http://purl.obolibrary.org/obo/HP_0002220	
HP:0002221	Absent axillary hair	biolink:PhenotypicFeature	hp	UMLS:C1859392			http://purl.obolibrary.org/obo/HP_0002221	Absence of axillary hair.
HP:0002223	Absent eyebrow	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253208007|SNOMEDCT_US:422441003|UMLS:C0431448|UMLS:C0578682|UMLS:C4280581|UMLS:C4280582	hposlim_core	Absent eyebrow|Failure of development of eyebrows|Loss of eyebrows|Missing eyebrows|Absent eyebrows|Agenesis of eyebrows|Aplasia of eyebrows	http://purl.obolibrary.org/obo/HP_0002223	Absence of the eyebrow.
HP:0002224	Woolly hair	biolink:PhenotypicFeature	hp	MEDDRA:10048017|SNOMEDCT_US:52564001|UMLS:C0343073|UMLS:C4072835|UMLS:C4072836|UMLS:C4073292	hposlim_core	Nappy hair texture|Kinked hair|Afro-textured hair|Kinky hair texture|Wooly hair	http://purl.obolibrary.org/obo/HP_0002224	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	biolink:PhenotypicFeature	hp	UMLS:C1858573	hposlim_core	Decreased sexual hair|Sparse pubic hair|sparse to absent pubic hair	http://purl.obolibrary.org/obo/HP_0002225	Reduced number or density of pubic hair.
HP:0002226	White eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1836737|UMLS:C4280579|UMLS:C4280580	hposlim_core	Pale eyebrow|White eyebrow|Grey eyebrow|Blonde eyebrow|Depigmented eyebrow|Hypopigmented eyebrow	http://purl.obolibrary.org/obo/HP_0002226	White color (lack of pigmentation) of the eyebrow.
HP:0002227	White eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1836736|UMLS:C4280578		Blonde eyelashes|Pale eyelashes|White eyelashes|Grey eyelashes|Depigmented eyelashes	http://purl.obolibrary.org/obo/HP_0002227	White color (lack of pigmentation) of the eyelashes.
HP:0002229	obsolete Alopecia areata	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002229	
HP:0002230	Generalized hirsutism	biolink:PhenotypicFeature	hp	UMLS:C1849211		Excessive hairiness over body|Generalised hirsutism	http://purl.obolibrary.org/obo/HP_0002230	Abnormally increased hair growth over much of the entire body.
HP:0002231	Sparse body hair	biolink:PhenotypicFeature	hp	UMLS:C1862863	hposlim_core	Sparse body hair|Limited body hair|Little body hair|Sparse to absent body hair	http://purl.obolibrary.org/obo/HP_0002231	Sparseness of the body hair.
HP:0002232	Patchy alopecia	biolink:PhenotypicFeature	hp	MSH:C531609|MSH:D000506|SNOMEDCT_US:68225006|UMLS:C0002171|UMLS:C1862862		Patchy baldness|Alopecia areata	http://purl.obolibrary.org/obo/HP_0002232	Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
HP:0002234	Early balding	biolink:PhenotypicFeature	hp	UMLS:C4025718		Early balding	http://purl.obolibrary.org/obo/HP_0002234	Loss of scalp hair at an earlier than normal age.
HP:0002235	Pili canaliculi	biolink:PhenotypicFeature	hp	UMLS:C1860608			http://purl.obolibrary.org/obo/HP_0002235	Uncombable hair.
HP:0002236	Frontal upsweep of hair	biolink:PhenotypicFeature	hp	UMLS:C1185616|UMLS:C2675540|UMLS:C3275754	hposlim_core	Cowlick|Frontal Cowlick|Frontal upsweep of hair|Upswept frontal hair|Upswept frontal hair pattern|Upswept frontal hairline	http://purl.obolibrary.org/obo/HP_0002236	Upward and/or sideward growth of anterior hair.
HP:0002239	Gastrointestinal hemorrhage	biolink:PhenotypicFeature	hp	MSH:D006471|SNOMEDCT_US:74474003|UMLS:C0017181		GI hemorrhage|Gastrointestinal bleeding|Gastrointestinal haemorrhage	http://purl.obolibrary.org/obo/HP_0002239	Hemorrhage affecting the gastrointestinal tract.
HP:0002240	Hepatomegaly	biolink:PhenotypicFeature	hp	MSH:D006529|SNOMEDCT_US:80515008|UMLS:C0019209		Enlarged liver	http://purl.obolibrary.org/obo/HP_0002240	Abnormally increased size of the liver.
HP:0002242	Abnormal intestine morphology	biolink:PhenotypicFeature	hp	MSH:D007410|SNOMEDCT_US:85919009|UMLS:C0021831		Abnormality of the intestine|Enteropathy	http://purl.obolibrary.org/obo/HP_0002242	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	biolink:PhenotypicFeature	hp	MSH:D011504|SNOMEDCT_US:22542007|SNOMEDCT_US:66972006|UMLS:C0033680			http://purl.obolibrary.org/obo/HP_0002243	Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
HP:0002244	Abnormality of the small intestine	biolink:PhenotypicFeature	hp	UMLS:C4025717			http://purl.obolibrary.org/obo/HP_0002244	An abnormality of the small intestine.
HP:0002245	Meckel diverticulum	biolink:PhenotypicFeature	hp	MEDDRA:10027055|MSH:D008467|SNOMEDCT_US:127962001|SNOMEDCT_US:37373007|UMLS:C0025037			http://purl.obolibrary.org/obo/HP_0002245	Meckel's diverticulum is a congenital diverticulum located in the distal ileum.
HP:0002246	Abnormal duodenum morphology	biolink:PhenotypicFeature	hp	UMLS:C4025716	hposlim_core	Abnormality of the duodenum	http://purl.obolibrary.org/obo/HP_0002246	An abnormality of the duodenum, i.e., the first section of the small intestine.
HP:0002247	Duodenal atresia	biolink:PhenotypicFeature	hp	Fyler:4406|MEDDRA:10013812|MSH:C535720|SNOMEDCT_US:51118003|UMLS:C0266174	hposlim_core	Absence or narrowing of first part of small bowel	http://purl.obolibrary.org/obo/HP_0002247	A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
HP:0002248	Hematemesis	biolink:PhenotypicFeature	hp	MSH:D006396|SNOMEDCT_US:8765009|UMLS:C0018926		Vomitting blood	http://purl.obolibrary.org/obo/HP_0002248	The vomiting of blood.
HP:0002249	Melena	biolink:PhenotypicFeature	hp	MSH:D008551|SNOMEDCT_US:249627005|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:2901004|SNOMEDCT_US:35064005|UMLS:C0025222|UMLS:C0474585		Black feces	http://purl.obolibrary.org/obo/HP_0002249	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	biolink:PhenotypicFeature	hp	UMLS:C4025715		Abnormality of the large intestine	http://purl.obolibrary.org/obo/HP_0002250	Any abnormality of the large intestine.
HP:0002251	Aganglionic megacolon	biolink:PhenotypicFeature	hp	MEDDRA:10027110|MSH:D006627|MSH:D008531|SNOMEDCT_US:204739008|SNOMEDCT_US:33995003|SNOMEDCT_US:367495003|UMLS:C0019569|UMLS:C0025160	hposlim_core	Enlarged colon lacking nerve cells|Congenital megacolon|Hirschsprung megacolon|Megacolon|Hirschsprung disease	http://purl.obolibrary.org/obo/HP_0002251	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	biolink:PhenotypicFeature	hp	MEDDRA:10009993|MSH:D004241|MSH:D043963|SNOMEDCT_US:398050005|UMLS:C0012811|UMLS:C0012819	hposlim_core	Colonic diverticulosis|Colon diverticula	http://purl.obolibrary.org/obo/HP_0002253	The presence of multiple diverticula of the colon.
HP:0002254	Intermittent diarrhea	biolink:PhenotypicFeature	hp	UMLS:C0239181		Intermittent diarrhoea|Episodic diarrhea	http://purl.obolibrary.org/obo/HP_0002254	Repeated episodes of diarrhea separated by periods without diarrhea.
HP:0002256	Small bowel diverticula	biolink:PhenotypicFeature	hp	MEDDRA:10013533|SNOMEDCT_US:8114009|UMLS:C0267498	hposlim_core		http://purl.obolibrary.org/obo/HP_0002256	
HP:0002257	Chronic rhinitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86094006|UMLS:C0008711			http://purl.obolibrary.org/obo/HP_0002257	Chronic inflammation of the nasal mucosa.
HP:0002263	Exaggerated cupid's bow	biolink:PhenotypicFeature	hp	UMLS:C1850629	hposlim_core	Cupid bow upper lip|Cupid-bow shaped upper lip|Exaggerated cupid's bow|Prominent cupid-bow of upper lip|Cupid's bow, accentuated	http://purl.obolibrary.org/obo/HP_0002263	More pronounced paramedian peaks and median notch of the Cupid's bow.
HP:0002265	Large fleshy ears	biolink:PhenotypicFeature	hp	UMLS:C3808403		Large fleshy ears	http://purl.obolibrary.org/obo/HP_0002265	
HP:0002266	Focal clonic seizure	biolink:PhenotypicFeature	hp	MSH:D020938|UMLS:C0752323		Focal clonic seizures|Localised clonic seizure|Localized clonic seizure|Partial clonic seizure|Segmental clonic seizure	http://purl.obolibrary.org/obo/HP_0002266	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	biolink:PhenotypicFeature	hp	MSH:D000071017|SNOMEDCT_US:19557000|UMLS:C0234166|UMLS:C1740801|UMLS:C1836014|UMLS:C1848918		Exaggerated acoustic startle response|Increased startle response|Hyperekplexia	http://purl.obolibrary.org/obo/HP_0002267	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	biolink:PhenotypicFeature	hp	MSH:D004421|SNOMEDCT_US:230310003|UMLS:C0393588		Episodic dystonia	http://purl.obolibrary.org/obo/HP_0002268	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	biolink:PhenotypicFeature	hp	MSH:D054081|UMLS:C1837249		Abnormal neuronal migration|Heterotopias/abnormal migration|Migrational brain disorder|Neuronal migration disorder	http://purl.obolibrary.org/obo/HP_0002269	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	biolink:PhenotypicFeature	hp	UMLS:C4025714			http://purl.obolibrary.org/obo/HP_0002270	An abnormality of the autonomic nervous system.
HP:0002271	obsolete Autonomic dysregulation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002271	
HP:0002273	Tetraparesis	biolink:PhenotypicFeature	hp	MSH:D011782|SNOMEDCT_US:91327001|UMLS:C0270790		Quadriparesis	http://purl.obolibrary.org/obo/HP_0002273	Weakness of all four limbs.
HP:0002275	Poor motor coordination	biolink:PhenotypicFeature	hp	UMLS:C1848453		Poor motor coordination	http://purl.obolibrary.org/obo/HP_0002275	
HP:0002277	Horner syndrome	biolink:PhenotypicFeature	hp	MSH:D006732|SNOMEDCT_US:12731000|SNOMEDCT_US:192915005|SNOMEDCT_US:271730003|UMLS:C0019937		Horner's syndrome|Oculosympathetic palsy	http://purl.obolibrary.org/obo/HP_0002277	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	biolink:PhenotypicFeature	hp	UMLS:C1853377		Large cisterna magna|Mega cisterna magna	http://purl.obolibrary.org/obo/HP_0002280	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:0002281	obsolete Gray matter heterotopias	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002281	
HP:0002282	Gray matter heterotopia	biolink:PhenotypicFeature	hp	MSH:D002828|SNOMEDCT_US:128490007|SNOMEDCT_US:416286003|SNOMEDCT_US:417338002|UMLS:C0008519		Gray matter heterotopias|Heterotopias|Grey matter heterotopia|Heterotopia|Neuronal heterotopia	http://purl.obolibrary.org/obo/HP_0002282	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	biolink:PhenotypicFeature	hp	UMLS:C0241816		Generalized brain degeneration|Diffuse brain atrophy|Generalized brain atrophy|Generalized cerebral atrophy	http://purl.obolibrary.org/obo/HP_0002283	Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
HP:0002286	Fair hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297995004|UMLS:C0239801|UMLS:C1849221		Blond hair|Fair hair|Fair hair color|Flaxen hair color|Light colored hair|Sandy hair color|Straw colored hair|Towhead (hair color)	http://purl.obolibrary.org/obo/HP_0002286	A lesser degree of hair pigmentation than would otherwise be expected.
HP:0002287	Progressive alopecia	biolink:PhenotypicFeature	hp	UMLS:C1851885			http://purl.obolibrary.org/obo/HP_0002287	Progressive loss of hair.
HP:0002289	Alopecia universalis	biolink:PhenotypicFeature	hp	MSH:C537055|SNOMEDCT_US:86166000|UMLS:C0263505		Alopecia, complete|Universal alopecia	http://purl.obolibrary.org/obo/HP_0002289	Loss of all hair on the entire body.
HP:0002290	Poliosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14240001|UMLS:C0221262		Patch of white hair|White patch	http://purl.obolibrary.org/obo/HP_0002290	Circumscribed depigmentation of the hair of the head or the eyelashes.
HP:0002292	Frontal balding	biolink:PhenotypicFeature	hp	MSH:D000505|SNOMEDCT_US:87872006|UMLS:C1864584|UMLS:C4083212	hposlim_core	Male pattern baldness|Frontal balding	http://purl.obolibrary.org/obo/HP_0002292	Absence of hair in the anterior midline and/or parietal areas.
HP:0002293	Alopecia of scalp	biolink:PhenotypicFeature	hp	MSH:D000505|SNOMEDCT_US:278040002|SNOMEDCT_US:298000004|SNOMEDCT_US:56317004|UMLS:C0002170|UMLS:C0574769|UMLS:C1850535		Absence of scalp hair|Baldness|Missing scalp hair|Pathologic hair loss from scalp|Scalp hair loss	http://purl.obolibrary.org/obo/HP_0002293	
HP:0002296	Progressive hypotrichosis	biolink:PhenotypicFeature	hp	UMLS:C1857048			http://purl.obolibrary.org/obo/HP_0002296	Progressively reduced or lacking hair growth.
HP:0002297	Red hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297997007|UMLS:C0239803		Ginger hair color|Red hair|Red hair color|Red head (hair color)	http://purl.obolibrary.org/obo/HP_0002297	
HP:0002298	Absent hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297991008|UMLS:C0574763		Absent hair	http://purl.obolibrary.org/obo/HP_0002298	
HP:0002299	Brittle hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25159003|UMLS:C0263490|UMLS:C1851868|UMLS:C1970705|UMLS:C4072837		Easily breakable hair|Fractured hair|Fragile hair|Reduced tensile strength of hair|Brittle hair	http://purl.obolibrary.org/obo/HP_0002299	Fragile, easily breakable hair, i.e., with reduced tensile strength.
HP:0002300	Mutism	biolink:PhenotypicFeature	hp	MSH:D009155|SNOMEDCT_US:88052002|UMLS:C0026884		Inability to speak|Muteness	http://purl.obolibrary.org/obo/HP_0002300	
HP:0002301	Hemiplegia	biolink:PhenotypicFeature	hp	MSH:D006429|SNOMEDCT_US:50582007|UMLS:C0018991		Paralysis on one side of body	http://purl.obolibrary.org/obo/HP_0002301	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:33994004|UMLS:C0085623			http://purl.obolibrary.org/obo/HP_0002304	Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
HP:0002305	Athetosis	biolink:PhenotypicFeature	hp	MSH:D001264|SNOMEDCT_US:44913001|SNOMEDCT_US:58593005|UMLS:C0004158|UMLS:C1845265		Involuntary writhing movements in fingers, hands, toes, and feet|Athetoid movements|Involuntary writhing movements	http://purl.obolibrary.org/obo/HP_0002305	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	biolink:PhenotypicFeature	hp	MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|UMLS:C0013132|UMLS:C0037036		Dribbling|Drooling|Sialorrhea	http://purl.obolibrary.org/obo/HP_0002307	Habitual flow of saliva out of the mouth.
HP:0002308	Arnold-Chiari malformation	biolink:PhenotypicFeature	hp	MSH:D001139|SNOMEDCT_US:253184003|UMLS:C0003803		Chiari malformation	http://purl.obolibrary.org/obo/HP_0002308	Arnold-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	biolink:PhenotypicFeature	hp	MSH:D020820|SNOMEDCT_US:49386006|UMLS:C0152115		Orofacial dyskinesias	http://purl.obolibrary.org/obo/HP_0002310	
HP:0002311	Incoordination	biolink:PhenotypicFeature	hp	MSH:D001259|SNOMEDCT_US:281016006|SNOMEDCT_US:302289002|UMLS:C0520966		Difficulties in coordination|Incoordination|Incoordination of limb movements|Limb incoordination	http://purl.obolibrary.org/obo/HP_0002311	
HP:0002312	Clumsiness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:7006003|UMLS:C0233844		Clumsiness	http://purl.obolibrary.org/obo/HP_0002312	Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
HP:0002313	Spastic paraparesis	biolink:PhenotypicFeature	hp	MSH:D020336|SNOMEDCT_US:312444006|UMLS:C0037771			http://purl.obolibrary.org/obo/HP_0002313	
HP:0002314	Degeneration of the lateral corticospinal tracts	biolink:PhenotypicFeature	hp	UMLS:C1846566		Degeneration of lateral corticospinal tracts	http://purl.obolibrary.org/obo/HP_0002314	Deterioration of the tissues of the lateral corticospinal tracts.
HP:0002315	Headache	biolink:PhenotypicFeature	hp	MSH:D006261|SNOMEDCT_US:25064002|UMLS:C0018681		Headache|Headaches	http://purl.obolibrary.org/obo/HP_0002315	Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
HP:0002317	Unsteady gait	biolink:PhenotypicFeature	hp	MSH:D020233|SNOMEDCT_US:22631008|SNOMEDCT_US:394616008|UMLS:C0231686		Unsteady walk|Gait instability	http://purl.obolibrary.org/obo/HP_0002317	
HP:0002318	Cervical myelopathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202664003|UMLS:C0149645			http://purl.obolibrary.org/obo/HP_0002318	
HP:0002321	Vertigo	biolink:PhenotypicFeature	hp	MSH:D004244|MSH:D014717|SNOMEDCT_US:271789005|SNOMEDCT_US:399090003|SNOMEDCT_US:399153001|SNOMEDCT_US:404640003|UMLS:C0012833|UMLS:C0042571		Dizzy spell|Dizziness	http://purl.obolibrary.org/obo/HP_0002321	An abnormal sensation of spinning while the body is actually stationary.
HP:0002322	Resting tremor	biolink:PhenotypicFeature	hp	MSH:D014202|SNOMEDCT_US:25082004|UMLS:C0234379		Resting tremor|Tremor at rest|Rest tremor|Parkinsonian tremor	http://purl.obolibrary.org/obo/HP_0002322	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	biolink:PhenotypicFeature	hp	Fyler:4332|MSH:D000757|SNOMEDCT_US:89369001|UMLS:C0002902		Embryonic anencephaly|Fetal anencephaly	http://purl.obolibrary.org/obo/HP_0002323	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	biolink:PhenotypicFeature	hp	MSH:D006832|SNOMEDCT_US:30023002|UMLS:C0020225		Hydrancephaly	http://purl.obolibrary.org/obo/HP_0002324	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	biolink:PhenotypicFeature	hp	MSH:D002546|UMLS:C0917805		TIA|Mini stroke|Transient ischaemic attack|Transient ischemic attacks	http://purl.obolibrary.org/obo/HP_0002326	
HP:0002329	Drowsiness	biolink:PhenotypicFeature	hp	MSH:D012894|SNOMEDCT_US:271782001|SNOMEDCT_US:79519003|UMLS:C0013144		Drowsiness|Sleepy	http://purl.obolibrary.org/obo/HP_0002329	Excessive daytime sleepiness.
HP:0002330	Paroxysmal drowsiness	biolink:PhenotypicFeature	hp	UMLS:C4025713			http://purl.obolibrary.org/obo/HP_0002330	Attacks of disabling daytime drowsiness and low alertness.
HP:0002331	Recurrent paroxysmal headache	biolink:PhenotypicFeature	hp	UMLS:C1854337			http://purl.obolibrary.org/obo/HP_0002331	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	biolink:PhenotypicFeature	hp	UMLS:C1845337		Lack of peer relationships	http://purl.obolibrary.org/obo/HP_0002332	
HP:0002333	Motor deterioration	biolink:PhenotypicFeature	hp	UMLS:C1866284		Progressive degeneration of movement	http://purl.obolibrary.org/obo/HP_0002333	Loss of previously present motor (i.e., movement) abilities.
HP:0002334	Abnormality of the cerebellar vermis	biolink:PhenotypicFeature	hp	UMLS:C4025712			http://purl.obolibrary.org/obo/HP_0002334	An anomaly of the vermis of cerebellum.
HP:0002335	Agenesis of cerebellar vermis	biolink:PhenotypicFeature	hp	MSH:C536293|SNOMEDCT_US:253175003|SNOMEDCT_US:716997004|UMLS:C0431399		Cerebellar vermis aplasia|Vermian agenesis	http://purl.obolibrary.org/obo/HP_0002335	Congenital absence of the vermis of cerebellum.
HP:0002339	Abnormal caudate nucleus morphology	biolink:PhenotypicFeature	hp	UMLS:C4025711		Abnormality of the caudate nucleus	http://purl.obolibrary.org/obo/HP_0002339	Any structural abnormality of the caudate nucleus.
HP:0002340	Caudate atrophy	biolink:PhenotypicFeature	hp	UMLS:C1858116		Caudate degeneration	http://purl.obolibrary.org/obo/HP_0002340	
HP:0002341	Cervical cord compression	biolink:PhenotypicFeature	hp	UMLS:C0852866		Cervical cord compression myelopathy	http://purl.obolibrary.org/obo/HP_0002341	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:61152003|UMLS:C0026351		IQ between 34 and 49|Mental retardation, moderate|Moderate mental deficiency|Moderate mental retardation	http://purl.obolibrary.org/obo/HP_0002342	Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
HP:0002343	Normal pressure hydrocephalus	biolink:PhenotypicFeature	hp	MSH:D006850|SNOMEDCT_US:30753002|UMLS:C0020258		Normal-pressure hydrocephalus	http://purl.obolibrary.org/obo/HP_0002343	A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.
HP:0002344	Progressive neurologic deterioration	biolink:PhenotypicFeature	hp	UMLS:C1854838		Worsening neurological symptoms|Neurologic deterioration|Neurologic deterioration, progressive|Progressive mental deterioration|Progressive neurodegeneration	http://purl.obolibrary.org/obo/HP_0002344	
HP:0002345	Action tremor	biolink:PhenotypicFeature	hp	MSH:D014202|SNOMEDCT_US:30721006|UMLS:C0234376|UMLS:C4020853		Ataxic tremor	http://purl.obolibrary.org/obo/HP_0002345	A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
HP:0002346	Head tremor	biolink:PhenotypicFeature	hp	UMLS:C0239882		Head tremor	http://purl.obolibrary.org/obo/HP_0002346	An unintentional, oscillating to-and-fro muscle movement affecting head movement.
HP:0002349	Focal aware seizure	biolink:PhenotypicFeature	hp	MSH:D004828|SNOMEDCT_US:117891000119100|SNOMEDCT_US:79348005|UMLS:C0234974		Focal aware seizures|Focal seizures without impairment of consciousness or awareness|Simple partial seizures|Focal seizure with retained awareness|Focal seizure without impairment of awareness|Focal seizure without impairment of consciousness or awareness|Partial seizure with retained awareness|Partial seizure without impairment of awareness|Simple partial seizure	http://purl.obolibrary.org/obo/HP_0002349	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	biolink:PhenotypicFeature	hp	UMLS:C1847762		Cerebellar cysts	http://purl.obolibrary.org/obo/HP_0002350	
HP:0002352	Leukoencephalopathy	biolink:PhenotypicFeature	hp	MSH:D056784|SNOMEDCT_US:22811006|UMLS:C0270612			http://purl.obolibrary.org/obo/HP_0002352	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274521009|UMLS:C0151611		Abnormal EEG|EEG abnormalities|Abnormal electroencephalogram|Electroencephalogram abnormal|Electroencephalogram abnormalities	http://purl.obolibrary.org/obo/HP_0002353	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	biolink:PhenotypicFeature	hp	MSH:D008569|SNOMEDCT_US:386807006|SNOMEDCT_US:55533009|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295		Forgetfulness|Memory impairment|Memory loss|Memory problems|Poor memory	http://purl.obolibrary.org/obo/HP_0002354	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	biolink:PhenotypicFeature	hp	MSH:D051346|SNOMEDCT_US:228158008|UMLS:C0311394		Difficulty in walking|Difficulty walking|Walking disability	http://purl.obolibrary.org/obo/HP_0002355	Reduced ability to walk (ambulate).
HP:0002356	Writer's cramp	biolink:PhenotypicFeature	hp	MSH:D020821|SNOMEDCT_US:52008007|UMLS:C0154676		Writer's cramp	http://purl.obolibrary.org/obo/HP_0002356	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:0002357	Dysphasia	biolink:PhenotypicFeature	hp	MSH:D001037|SNOMEDCT_US:20301004|UMLS:C0973461			http://purl.obolibrary.org/obo/HP_0002357	
HP:0002359	Frequent falls	biolink:PhenotypicFeature	hp	UMLS:C0850703		Frequent falls	http://purl.obolibrary.org/obo/HP_0002359	
HP:0002360	Sleep disturbance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:53888004|UMLS:C0037317		Difficulty sleeping|Trouble sleeping|Sleep disturbances|Sleep dysfunction	http://purl.obolibrary.org/obo/HP_0002360	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	biolink:PhenotypicFeature	hp	UMLS:C1836842		Psychomotor degeneration	http://purl.obolibrary.org/obo/HP_0002361	Loss of previously present mental and motor abilities.
HP:0002362	Shuffling gait	biolink:PhenotypicFeature	hp	MSH:D020233|SNOMEDCT_US:43005009|UMLS:C0231688		Shuffled walk	http://purl.obolibrary.org/obo/HP_0002362	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	biolink:PhenotypicFeature	hp	UMLS:C1850601		Abnormal shape of brainstem|Abnormality of brainstem morphology|Abnormality of the brainstem	http://purl.obolibrary.org/obo/HP_0002363	An anomaly of the brainstem.
HP:0002365	Hypoplasia of the brainstem	biolink:PhenotypicFeature	hp	UMLS:C1842688		Small brainstem|Underdeveloped brainstem|Brainstem hypoplasia|Hypoplastic brain stem|Hypoplastic brainstem	http://purl.obolibrary.org/obo/HP_0002365	Underdevelopment of the brainstem.
HP:0002366	Abnormal lower motor neuron morphology	biolink:PhenotypicFeature	hp	UMLS:C1865412		Lower motor neuron disease|Lower motor neuron manifestations|Lower motor neuron signs	http://purl.obolibrary.org/obo/HP_0002366	Any structural anomaly of the lower motor neuron.
HP:0002367	Visual hallucinations	biolink:PhenotypicFeature	hp	MSH:D006212|SNOMEDCT_US:64269007|UMLS:C0233763		Visual hallucinations	http://purl.obolibrary.org/obo/HP_0002367	
HP:0002370	Poor coordination	biolink:PhenotypicFeature	hp	UMLS:C0563243		Poor coordination	http://purl.obolibrary.org/obo/HP_0002370	
HP:0002371	Loss of speech	biolink:PhenotypicFeature	hp	UMLS:C0542223		Loss of speech	http://purl.obolibrary.org/obo/HP_0002371	
HP:0002372	Normal interictal EEG	biolink:PhenotypicFeature	hp	UMLS:C1843146			http://purl.obolibrary.org/obo/HP_0002372	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)	biolink:PhenotypicFeature	hp	MSH:D003294|SNOMEDCT_US:41497008|UMLS:C0009952		Fever induced seizures|Febrile seizures|Febrile convulsion|Seizures, febrile, in early childhood|Seizures, generalized, associated with fever	http://purl.obolibrary.org/obo/HP_0002373	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	biolink:PhenotypicFeature	hp	UMLS:C4025710		Diminished movement	http://purl.obolibrary.org/obo/HP_0002374	
HP:0002375	Hypokinesia	biolink:PhenotypicFeature	hp	MSH:D018476|SNOMEDCT_US:255385008|SNOMEDCT_US:43994002|UMLS:C0086439		Decreased muscle movement|Decreased spontaneous movement|Decreased spontaneous movements	http://purl.obolibrary.org/obo/HP_0002375	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:609225004|UMLS:C1836550|UMLS:C1836830|UMLS:C1850493|UMLS:C1855009|UMLS:C1855019|UMLS:C1855996|UMLS:C1857121|UMLS:C1859678		Loss of developmental milestones|Mental deterioration in childhood|Neurodevelopmental regression|Psychomotor regression|Psychomotor regression beginning in infancy|Psychomotor regression in infants|Psychomotor regression, progressive	http://purl.obolibrary.org/obo/HP_0002376	Loss of developmental skills, as manifested by loss of developmental milestones.
HP:0002377	obsolete Paraganglioma-related cranial nerve palsy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002377	
HP:0002378	Hand tremor	biolink:PhenotypicFeature	hp	UMLS:C0239842		Hand tremor|Tremor of hand|Tremor of hands|tremors in hands	http://purl.obolibrary.org/obo/HP_0002378	An unintentional, oscillating to-and-fro muscle movement affecting the hand.
HP:0002380	Fasciculations	biolink:PhenotypicFeature	hp	MSH:D005207|SNOMEDCT_US:82470000|UMLS:C0015644		Muscle twitch|Fasciculation|Muscle fasciculation	http://purl.obolibrary.org/obo/HP_0002380	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	biolink:PhenotypicFeature	hp	MSH:D001037|SNOMEDCT_US:87486003|UMLS:C0003537		Difficulty finding words|Losing words|Loss of words	http://purl.obolibrary.org/obo/HP_0002381	An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
HP:0002383	Encephalitis	biolink:PhenotypicFeature	hp	MSH:D004660|SNOMEDCT_US:45170000|UMLS:C0014038		Brain inflammation	http://purl.obolibrary.org/obo/HP_0002383	
HP:0002384	Focal impaired awareness seizure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4103001|UMLS:C0149958|UMLS:C0270834		Focal impaired awareness seizures|Focal seizures with impairment of consciousness or awareness|Complex focal seizures|Complex partial seizure|Complex partial seizures|Dyscognitive seizures|Focal dyscognitive seizure|Focal seizure with impairment of awareness|Focal seizure with loss of awareness|Localised dyscognitive seizure|Localised seizure with impaired awareness|Localised seizure with loss of awareness|Localized dyscognitive seizure|Localized seizure with impaired awareness|Localized seizure with loss of awareness|Partial dyscognitive seizure|Partial seizure with impairment of awareness|Partial seizure with loss of awareness	http://purl.obolibrary.org/obo/HP_0002384	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	biolink:PhenotypicFeature	hp	MSH:D020335|SNOMEDCT_US:1845001|UMLS:C0221166		Partial paralysis of legs	http://purl.obolibrary.org/obo/HP_0002385	Weakness or partial paralysis in the lower limbs.
HP:0002389	Cavum septum pellucidum	biolink:PhenotypicFeature	hp	UMLS:C1840380		Large cavum septi pellucidi|Persistent cavum septum pellucidum|Widened cavum septum pellucidum	http://purl.obolibrary.org/obo/HP_0002389	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:261482004|UMLS:C0348023			http://purl.obolibrary.org/obo/HP_0002390	
HP:0002392	EEG with polyspike wave complexes	biolink:PhenotypicFeature	hp	UMLS:C4021757		EEG: spike and multispike waves, 3-4 hz	http://purl.obolibrary.org/obo/HP_0002392	The presence of complexes of repetitive spikes and waves in EEG.
HP:0002395	Lower limb hyperreflexia	biolink:PhenotypicFeature	hp	UMLS:C1836696		Overactive lower leg reflex|Brisk lower extremity reflexes|Hyperreflexia in lower limbs|Hyperreflexia in the lower limbs|Increased deep tendon reflexes in the lower limbs|Leg hyperreflexia	http://purl.obolibrary.org/obo/HP_0002395	
HP:0002396	Cogwheel rigidity	biolink:PhenotypicFeature	hp	MSH:D009127|SNOMEDCT_US:55630000|UMLS:C0151564			http://purl.obolibrary.org/obo/HP_0002396	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	biolink:PhenotypicFeature	hp	UMLS:C1843505		Anterior horn cell loss|Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord|Degeneration of spinal cord anterior horn cells|Loss of spinal cord anterior horn cells|Progressive loss of anterior horn cells|Spinal cord anterior horn cell degeneration	http://purl.obolibrary.org/obo/HP_0002398	
HP:0002401	Stroke-like episode	biolink:PhenotypicFeature	hp	UMLS:C1857287		Stroke-like episodes|Strokelike episodes	http://purl.obolibrary.org/obo/HP_0002401	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298310004|UMLS:C0240914			http://purl.obolibrary.org/obo/HP_0002403	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	biolink:PhenotypicFeature	hp	UMLS:C4021756		Thick cerebellar peduncles	http://purl.obolibrary.org/obo/HP_0002404	Increased width of the superior cerebellar peduncle.
HP:0002406	Limb dysmetria	biolink:PhenotypicFeature	hp	UMLS:C1854489|UMLS:C4280577		Uncoordinated limb movement	http://purl.obolibrary.org/obo/HP_0002406	A type of dysmetria involving the limbs.
HP:0002408	Cerebral arteriovenous malformation	biolink:PhenotypicFeature	hp	Fyler:2201|MSH:D002538|SNOMEDCT_US:234142008|UMLS:C0917804		Cerebral AV malformation	http://purl.obolibrary.org/obo/HP_0002408	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	biolink:PhenotypicFeature	hp	MSH:D006849|UMLS:C2936786		Aqueduct of Sylvius stenosis|Aqueduct stenosis|Narrowing of aqueduct of Sylvius	http://purl.obolibrary.org/obo/HP_0002410	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	biolink:PhenotypicFeature	hp	MSH:D020385|SNOMEDCT_US:27678003|UMLS:C0684219			http://purl.obolibrary.org/obo/HP_0002411	Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
HP:0002414	Spina bifida	biolink:PhenotypicFeature	hp	Fyler:4157|MSH:D016135|SNOMEDCT_US:67531005|UMLS:C0080178		Split spine	http://purl.obolibrary.org/obo/HP_0002414	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:192781003|UMLS:C0023520		Degeneration of white matter of brain	http://purl.obolibrary.org/obo/HP_0002415	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	biolink:PhenotypicFeature	hp	UMLS:C1833431			http://purl.obolibrary.org/obo/HP_0002416	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	Abnormality of midbrain morphology	biolink:PhenotypicFeature	hp	UMLS:C4021755		Abnormal shape of midbrain|Abnormality of the midbrain|Abnormality of the mesencephalon	http://purl.obolibrary.org/obo/HP_0002418	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	biolink:PhenotypicFeature	hp	UMLS:C1865060		'molar tooth sign' on brain imaging'|'molar tooth' sign on imaging|Molar tooth sign	http://purl.obolibrary.org/obo/HP_0002419	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	biolink:PhenotypicFeature	hp	UMLS:C1836038		Poor head control	http://purl.obolibrary.org/obo/HP_0002421	Difficulty to maintain correct position of the head while standing or sitting.
HP:0002423	Long-tract signs	biolink:PhenotypicFeature	hp	UMLS:C1865903		Long tract signs	http://purl.obolibrary.org/obo/HP_0002423	
HP:0002425	Anarthria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48257004|UMLS:C0234517		Loss of articulate speech	http://purl.obolibrary.org/obo/HP_0002425	A defect in the motor ability that enables speech.
HP:0002427	Motor aphasia	biolink:PhenotypicFeature	hp	MSH:D001039|SNOMEDCT_US:229654003|SNOMEDCT_US:229665008|SNOMEDCT_US:328681008|UMLS:C0003550|UMLS:C0917814		Loss of expressive speech|Broca's aphasia|Expressive aphasia	http://purl.obolibrary.org/obo/HP_0002427	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	biolink:PhenotypicFeature	hp	MSH:D008588|SNOMEDCT_US:171131006|UMLS:C0025299			http://purl.obolibrary.org/obo/HP_0002435	Protrusion of the meninges through a defect of the vertebral column.
HP:0002436	Occipital meningocele	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445468002|UMLS:C1848652			http://purl.obolibrary.org/obo/HP_0002436	A herniation of meninges through a congenital bone defect in the skull in the occipital region.
HP:0002438	Cerebellar malformation	biolink:PhenotypicFeature	hp	UMLS:C4025708			http://purl.obolibrary.org/obo/HP_0002438	
HP:0002439	Frontolimbic dementia	biolink:PhenotypicFeature	hp	UMLS:C1836151			http://purl.obolibrary.org/obo/HP_0002439	
HP:0002442	Dyscalculia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:47916000|UMLS:C1411876|UMLS:C4280576		Difficulty making arithmetical calculations	http://purl.obolibrary.org/obo/HP_0002442	A specific learning disability involving mathematics and arithmetic.
HP:0002444	Hypothalamic hamartoma	biolink:PhenotypicFeature	hp	MSH:C537158|SNOMEDCT_US:237714006|UMLS:C0342418			http://purl.obolibrary.org/obo/HP_0002444	The presence of a hamartoma of the hypothalamus.
HP:0002445	Tetraplegia	biolink:PhenotypicFeature	hp	MSH:D011782|SNOMEDCT_US:11538006|UMLS:C0034372		Paralysis of all four limbs|Quadriplegia	http://purl.obolibrary.org/obo/HP_0002445	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	biolink:PhenotypicFeature	hp	MSH:D005911|SNOMEDCT_US:81415000|UMLS:C3887640		Increase in astrocyte number	http://purl.obolibrary.org/obo/HP_0002446	Proliferation of astrocytes in the area of a lesion of the central nervous system.
HP:0002448	Progressive encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C1838578|UMLS:C4280575		Progressive brain disease	http://purl.obolibrary.org/obo/HP_0002448	
HP:0002450	Abnormal motor neuron morphology	biolink:PhenotypicFeature	hp	UMLS:C4025707		Abnormal shape of motor neuron	http://purl.obolibrary.org/obo/HP_0002450	Any structural anomaly that affects the motor neuron.
HP:0002451	Limb dystonia	biolink:PhenotypicFeature	hp	MSH:D004421|UMLS:C0751093			http://purl.obolibrary.org/obo/HP_0002451	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
HP:0002453	Abnormal globus pallidus morphology	biolink:PhenotypicFeature	hp	UMLS:C4025706			http://purl.obolibrary.org/obo/HP_0002453	An abnormality of the globus pallidus.
HP:0002454	Eye of the tiger anomaly of globus pallidus	biolink:PhenotypicFeature	hp	UMLS:C4025705			http://purl.obolibrary.org/obo/HP_0002454	The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.
HP:0002457	Abnormal head movements	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271799000|UMLS:C0476217		Abnormal head movements	http://purl.obolibrary.org/obo/HP_0002457	
HP:0002459	obsolete Dysautonomia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002459	
HP:0002460	Distal muscle weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249942005|UMLS:C0427065|UMLS:C1864696		Weakness of outermost muscles|Distal limb muscle weakness|Distal limb weakness|Distal muscular weakness|Distal paresis|Muscle weakness, distal|Muscle weakness, distal limbs, due to neuronopathy|Weakness of distal muscles|Distal limb muscle weakness due to peripheral neuropathy	http://purl.obolibrary.org/obo/HP_0002460	Reduced strength of the musculature of the distal extremities.
HP:0002461	Dense calcifications in the cerebellar dentate nucleus	biolink:PhenotypicFeature	hp	UMLS:C1859273			http://purl.obolibrary.org/obo/HP_0002461	
HP:0002463	Language impairment	biolink:PhenotypicFeature	hp	MSH:D007806|SNOMEDCT_US:62305002|UMLS:C0023015		Language impairment|Language disorder	http://purl.obolibrary.org/obo/HP_0002463	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	biolink:PhenotypicFeature	hp	MSH:D004401|SNOMEDCT_US:229684006|UMLS:C0454596		Rigid dysarthria	http://purl.obolibrary.org/obo/HP_0002464	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	biolink:PhenotypicFeature	hp	UMLS:C1848207|UMLS:C4280574		Problems speaking|Poor speech|Difficulty speaking	http://purl.obolibrary.org/obo/HP_0002465	
HP:0002470	Nonprogressive cerebellar ataxia	biolink:PhenotypicFeature	hp	UMLS:C1845029			http://purl.obolibrary.org/obo/HP_0002470	
HP:0002472	Small cerebral cortex	biolink:PhenotypicFeature	hp	UMLS:C1837503		Decreased volume of cerebral cortex	http://purl.obolibrary.org/obo/HP_0002472	Reduced size of the cerebral cortex.
HP:0002474	Expressive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:229734008|UMLS:C0454641|UMLS:C1847610|UMLS:C4280573		Communication delay|Deficit in expressive language	http://purl.obolibrary.org/obo/HP_0002474	A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0002475	Myelomeningocele	biolink:PhenotypicFeature	hp	Fyler:4309|MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312		Meningomyelocele|Spina bifida cystica	http://purl.obolibrary.org/obo/HP_0002475	Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
HP:0002476	Primitive reflex	biolink:PhenotypicFeature	hp	UMLS:C1838319		Archaic reflex|Primitive reflexes	http://purl.obolibrary.org/obo/HP_0002476	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	biolink:PhenotypicFeature	hp	UMLS:C1859736		Progressive spastic quadriparesis	http://purl.obolibrary.org/obo/HP_0002478	
HP:0002480	Hepatic encephalopathy	biolink:PhenotypicFeature	hp	MSH:D006501|SNOMEDCT_US:13920009|SNOMEDCT_US:449902003|UMLS:C0019151			http://purl.obolibrary.org/obo/HP_0002480	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	biolink:PhenotypicFeature	hp	UMLS:C1856507			http://purl.obolibrary.org/obo/HP_0002483	
HP:0002486	Myotonia	biolink:PhenotypicFeature	hp	MSH:D009222|SNOMEDCT_US:3434004|UMLS:C0027125		Delayed relaxation of muscle fibers after contraction	http://purl.obolibrary.org/obo/HP_0002486	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
HP:0002487	Hyperkinetic movements	biolink:PhenotypicFeature	hp	MSH:D006948|MSH:D013035|SNOMEDCT_US:44548000|SNOMEDCT_US:45352006|UMLS:C0037763|UMLS:C0424295		Muscle spasms|Hyperkinesia|Hyperkinesis	http://purl.obolibrary.org/obo/HP_0002487	Motor hyperactivity with excessive movement of muscles of the body as a whole.
HP:0002488	Acute leukemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24072005|SNOMEDCT_US:91855006|UMLS:C0085669|UMLS:C4280572		Acute blood cancer|Acute leukaemia|Acute leukemias	http://purl.obolibrary.org/obo/HP_0002488	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	biolink:PhenotypicFeature	hp	UMLS:C1167918		Hyperlactatorachia|Increased CSF lactic acid|Increased cerebrospinal fluid lactate	http://purl.obolibrary.org/obo/HP_0002490	Increased concentration of lactate in the cerebrospinal fluid.
HP:0002491	Spasticity of facial muscles	biolink:PhenotypicFeature	hp	UMLS:C1853404|UMLS:C4280570|UMLS:C4280571		Increased stiffness of facial muscles|Increased tone of facial muscles|Spasticity of the facial muscles	http://purl.obolibrary.org/obo/HP_0002491	Spasticity of one or more muscles innervated by the facial nerve.
HP:0002492	Morphological abnormality of the corticospinal tract	biolink:PhenotypicFeature	hp	UMLS:C4020852|UMLS:C4025704		Abnormality of the corticospinal tract|Involvement of the corticospinal pathways	http://purl.obolibrary.org/obo/HP_0002492	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	biolink:PhenotypicFeature	hp	UMLS:C1504405|UMLS:C1839042		Corticospinal tract dysfunction|Pyramidal tract dysfunction	http://purl.obolibrary.org/obo/HP_0002493	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69020003|UMLS:C0392188		Abnormal REM sleep	http://purl.obolibrary.org/obo/HP_0002494	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:130980003|UMLS:C1295585		Decreased vibration sense|Decreased vibratory sense|Diminished vibratory sense|Impaired vibratory sensation|Impaired vibratory sense|Hypopallesthesia	http://purl.obolibrary.org/obo/HP_0002495	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	biolink:PhenotypicFeature	hp	MSH:C564815|UMLS:C1849156			http://purl.obolibrary.org/obo/HP_0002497	
HP:0002500	Abnormality of the cerebral white matter	biolink:PhenotypicFeature	hp	MSH:D049292|UMLS:C0948163|UMLS:C4020851		Abnormality of subcortical white matter|Cerebral white matter abnormalities|Leukoaraiosis|White matter abnormalities|White matter alterations|Cortical white matter abnormalities seen on MRI	http://purl.obolibrary.org/obo/HP_0002500	An abnormality of the cerebral white matter.
HP:0002501	Spasticity of pharyngeal muscles	biolink:PhenotypicFeature	hp	UMLS:C1853398			http://purl.obolibrary.org/obo/HP_0002501	
HP:0002503	Spinocerebellar tract degeneration	biolink:PhenotypicFeature	hp	UMLS:C1866751		Degeneration of the spinocerebellar tracts|Spinocerebellar degeneration	http://purl.obolibrary.org/obo/HP_0002503	
HP:0002504	Calcification of the small brain vessels	biolink:PhenotypicFeature	hp	UMLS:C4025703			http://purl.obolibrary.org/obo/HP_0002504	Deposition of calcium salts within small blood vessels of the brain.
HP:0002505	Progressive inability to walk	biolink:PhenotypicFeature	hp	UMLS:C1836843		Progressive inability to walk	http://purl.obolibrary.org/obo/HP_0002505	
HP:0002506	Diffuse cerebral atrophy	biolink:PhenotypicFeature	hp	UMLS:C0598275		Cerebral atrophy, diffuse	http://purl.obolibrary.org/obo/HP_0002506	Diffuse unlocalised atrophy affecting the cerebrum.
HP:0002507	Semilobar holoprosencephaly	biolink:PhenotypicFeature	hp	MSH:D016142|SNOMEDCT_US:253138008|UMLS:C0751617			http://purl.obolibrary.org/obo/HP_0002507	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	biolink:PhenotypicFeature	hp	UMLS:C1855677		Brainstem hypoplasia/dysplasia|Malformation of brainstem structures	http://purl.obolibrary.org/obo/HP_0002508	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	biolink:PhenotypicFeature	hp	UMLS:C1838391		Increased muscle tone of arm or leg	http://purl.obolibrary.org/obo/HP_0002509	
HP:0002510	Spastic tetraplegia	biolink:PhenotypicFeature	hp	MSH:D011782|SNOMEDCT_US:192965001|UMLS:C0426970		Spastic quadriplegia	http://purl.obolibrary.org/obo/HP_0002510	Spastic paralysis affecting all four limbs.
HP:0002511	Alzheimer disease	biolink:PhenotypicFeature	hp	DOID:10652|MONDO:0004975|MSH:C536595|MSH:D000544|SNOMEDCT_US:230267005|SNOMEDCT_US:26929004|UMLS:C0002395|UMLS:C1863051		Alzheimer disease|Late-onset form of familial Alzheimer disease	http://purl.obolibrary.org/obo/HP_0002511	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25816005|SNOMEDCT_US:5582005|UMLS:C0270680			http://purl.obolibrary.org/obo/HP_0002512	
HP:0002514	Cerebral calcification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17944005|UMLS:C0270685		Abnormal deposits of calcium in the brain|Brain calcification|Intracerebral calcifications|Intracranial calcification|Intracranial calcifications	http://purl.obolibrary.org/obo/HP_0002514	The presence of calcium deposition within brain structures.
HP:0002515	Waddling gait	biolink:PhenotypicFeature	hp	MSH:D020233|SNOMEDCT_US:271706000|UMLS:C0231712		'Waddling' gait|Waddling walk	http://purl.obolibrary.org/obo/HP_0002515	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	biolink:PhenotypicFeature	hp	MSH:D019586|SNOMEDCT_US:271719001|UMLS:C0151740		Rise in pressure inside skull|Intracranial hypertension|Intracranial pressure elevation	http://purl.obolibrary.org/obo/HP_0002516	An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
HP:0002518	Abnormality of the periventricular white matter	biolink:PhenotypicFeature	hp	UMLS:C2673431		Periventricular white matter abnormalities	http://purl.obolibrary.org/obo/HP_0002518	
HP:0002519	Hypnagogic hallucinations	biolink:PhenotypicFeature	hp	MSH:D006212|SNOMEDCT_US:44780000|UMLS:C0233773			http://purl.obolibrary.org/obo/HP_0002519	
HP:0002521	Hypsarrhythmia	biolink:PhenotypicFeature	hp	MSH:D013036|SNOMEDCT_US:28055006|UMLS:C0684276		Hypsarrhythmia by EEG	http://purl.obolibrary.org/obo/HP_0002521	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	biolink:PhenotypicFeature	hp	UMLS:C1856694		Absent lower limb tendon reflexes|Areflexia in lower limbs|Areflexia of the lower limbs|Areflexia, lower limbs	http://purl.obolibrary.org/obo/HP_0002522	Inability to elicit tendon reflexes in the lower limbs.
HP:0002524	Cataplexy	biolink:PhenotypicFeature	hp	MSH:D002385|SNOMEDCT_US:46263000|UMLS:C0007384			http://purl.obolibrary.org/obo/HP_0002524	A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
HP:0002526	Deficit in nonword repetition	biolink:PhenotypicFeature	hp	UMLS:C4025702			http://purl.obolibrary.org/obo/HP_0002526	Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.
HP:0002527	Falls	biolink:PhenotypicFeature	hp	SNOMEDCT_US:161898004|SNOMEDCT_US:1912002|UMLS:C0085639		Falls	http://purl.obolibrary.org/obo/HP_0002527	
HP:0002528	Granulovacuolar degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90506004|UMLS:C0333454			http://purl.obolibrary.org/obo/HP_0002528	Electron-dense granules within double membrane-bound cytoplasmic vacuoles.
HP:0002529	Neuronal loss in central nervous system	biolink:PhenotypicFeature	hp	UMLS:C1850496		Neuronal loss in CNS|Loss of brain cells|Neuronal loss	http://purl.obolibrary.org/obo/HP_0002529	
HP:0002530	Axial dystonia	biolink:PhenotypicFeature	hp	UMLS:C1836149		Truncal dystonia	http://purl.obolibrary.org/obo/HP_0002530	A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
HP:0002533	Abnormal posturing	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43029002|UMLS:C0231471			http://purl.obolibrary.org/obo/HP_0002533	Involuntary flexion or extension of the arms and legs.
HP:0002536	Abnormal cortical gyration	biolink:PhenotypicFeature	hp	UMLS:C1856019		Abnormal gyration|Cerebral gyral anomalies	http://purl.obolibrary.org/obo/HP_0002536	An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
HP:0002538	Abnormality of the cerebral cortex	biolink:PhenotypicFeature	hp	UMLS:C4025701			http://purl.obolibrary.org/obo/HP_0002538	An abnormality of the cerebral cortex.
HP:0002539	Cortical dysplasia	biolink:PhenotypicFeature	hp	MSH:D054220|SNOMEDCT_US:253153000|UMLS:C0431380		Neocortical dysplasia	http://purl.obolibrary.org/obo/HP_0002539	The presence of developmental dysplasia of the cerebral cortex.
HP:0002540	Inability to walk	biolink:PhenotypicFeature	hp	SNOMEDCT_US:282145008|UMLS:C0560046		Inability to walk|Non-ambulatory	http://purl.obolibrary.org/obo/HP_0002540	Incapability to ambulate.
HP:0002542	Olivopontocerebellar atrophy	biolink:PhenotypicFeature	hp	MSH:D009849|SNOMEDCT_US:67761004|UMLS:C0028968		Olivopontocerebellar degeneration	http://purl.obolibrary.org/obo/HP_0002542	Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
HP:0002544	Retrocollis	biolink:PhenotypicFeature	hp	UMLS:C3887667			http://purl.obolibrary.org/obo/HP_0002544	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	biolink:PhenotypicFeature	hp	UMLS:C1857638			http://purl.obolibrary.org/obo/HP_0002545	Patchy loss of myelin from nerve fibers in the central nervous system.
HP:0002546	Incomprehensible speech	biolink:PhenotypicFeature	hp	UMLS:C1838027		Incomprehensible speech	http://purl.obolibrary.org/obo/HP_0002546	
HP:0002548	Parkinsonism with favorable response to dopaminergic medication	biolink:PhenotypicFeature	hp	UMLS:C1846868		Parkinsonism with favourable response to dopaminergic medication|Favorable response to levodopa	http://purl.obolibrary.org/obo/HP_0002548	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	biolink:PhenotypicFeature	hp	UMLS:C1847609			http://purl.obolibrary.org/obo/HP_0002549	
HP:0002550	Absent facial hair	biolink:PhenotypicFeature	hp	UMLS:C1848192		Absent facial hair	http://purl.obolibrary.org/obo/HP_0002550	Absence of facial hair.
HP:0002552	Trichodysplasia	biolink:PhenotypicFeature	hp	UMLS:C4020850|UMLS:C4025700		Generalized trichodysplasia	http://purl.obolibrary.org/obo/HP_0002552	Developmental dysplasia of the hair.
HP:0002553	Highly arched eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1868571|UMLS:C4020849	hposlim_core	Arched eyebrows|Broad, arched eyebrows|High, rounded eyebrows|High-arched eyebrows|Highly arched eyebrow|Thick, flared eyebrows|Bowed and upward slanting eyebrows|High arched eyebrows	http://purl.obolibrary.org/obo/HP_0002553	Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
HP:0002555	Absent pubic hair	biolink:PhenotypicFeature	hp	UMLS:C1859391	hposlim_core	Absent pubic hair	http://purl.obolibrary.org/obo/HP_0002555	Absence of pubic hair.
HP:0002557	Hypoplastic nipples	biolink:PhenotypicFeature	hp	SNOMEDCT_US:268290005|UMLS:C0432355		Small nipples|Nipple hypoplasia	http://purl.obolibrary.org/obo/HP_0002557	Underdevelopment of the nipple.
HP:0002558	Supernumerary nipple	biolink:PhenotypicFeature	hp	Fyler:4234|MSH:C562557|SNOMEDCT_US:50956007|UMLS:C0266011	hposlim_core	Accessory nipple|Accessory nipples|Increased nipple number|accessory mamilla|Supernumerary nipples|accessory mamillas	http://purl.obolibrary.org/obo/HP_0002558	Presence of more than two nipples.
HP:0002561	Absent nipple	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248820000|UMLS:C0425795		Absent nipple|Absent nipples|Athelia	http://purl.obolibrary.org/obo/HP_0002561	Congenital failure to develop, and absence of, the nipple.
HP:0002562	Low-set nipples	biolink:PhenotypicFeature	hp	UMLS:C1836933	hposlim_core	Low-set nipples	http://purl.obolibrary.org/obo/HP_0002562	Placement of the nipples at a lower than normal location.
HP:0002563	Constrictive pericarditis	biolink:PhenotypicFeature	hp	MSH:D010494|SNOMEDCT_US:85598007|UMLS:C0031048			http://purl.obolibrary.org/obo/HP_0002563	Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.
HP:0002564	obsolete Malformation of the heart and great vessels	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002564	
HP:0002566	Intestinal malrotation	biolink:PhenotypicFeature	hp	MEDDRA:10064024|MSH:C562456|SNOMEDCT_US:253789002|SNOMEDCT_US:29980002|SNOMEDCT_US:48641006|UMLS:C0221210	hposlim_core	Malrotation|Gut malrotation	http://purl.obolibrary.org/obo/HP_0002566	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	biolink:PhenotypicFeature	hp	MSH:D045602|SNOMEDCT_US:27868004|SNOMEDCT_US:66187002|UMLS:C0038238		Fat in feces|Fatty stool	http://purl.obolibrary.org/obo/HP_0002570	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	biolink:PhenotypicFeature	hp	MEDDRA:10030136|MSH:D004931|SNOMEDCT_US:45564002|UMLS:C0014848	hposlim_core	Achalasia of the esophagus	http://purl.obolibrary.org/obo/HP_0002571	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	biolink:PhenotypicFeature	hp	UMLS:C1838993|UMLS:C1857202		Episodic vomiting|Frequent vomiting	http://purl.obolibrary.org/obo/HP_0002572	Paroxysmal, recurrent episodes of vomiting.
HP:0002573	Hematochezia	biolink:PhenotypicFeature	hp	MSH:D006471|SNOMEDCT_US:236068001|SNOMEDCT_US:405729008|UMLS:C0018932		Rectal bleeding|Recurrent rectal bleeding	http://purl.obolibrary.org/obo/HP_0002573	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	biolink:PhenotypicFeature	hp	UMLS:C0262527|UMLS:C3808022		Intermittent abdominal pain	http://purl.obolibrary.org/obo/HP_0002574	An intermittent form of abdominal pain.
HP:0002575	Tracheoesophageal fistula	biolink:PhenotypicFeature	hp	Fyler:4202|MEDDRA:10044310|MSH:D014138|SNOMEDCT_US:95435007|UMLS:C0040588	hposlim_core	Abnormal connection between trachea and esophagus	http://purl.obolibrary.org/obo/HP_0002575	An abnormal connection (fistula) between the esophagus and the trachea.
HP:0002576	Intussusception	biolink:PhenotypicFeature	hp	MEDDRA:10022863|MSH:D007443|SNOMEDCT_US:35327006|SNOMEDCT_US:49723003|UMLS:C0021933	hposlim_core		http://purl.obolibrary.org/obo/HP_0002576	An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
HP:0002577	Abnormal stomach morphology	biolink:PhenotypicFeature	hp	UMLS:C4025699		Abnormality of the stomach	http://purl.obolibrary.org/obo/HP_0002577	An abnormality of the stomach.
HP:0002578	Gastroparesis	biolink:PhenotypicFeature	hp	MSH:D018589|SNOMEDCT_US:196753007|SNOMEDCT_US:235675006|UMLS:C0152020	hposlim_core	Delayed gastric emptying	http://purl.obolibrary.org/obo/HP_0002578	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	biolink:PhenotypicFeature	hp	UMLS:C1836923	hposlim_core	GI dysmotility	http://purl.obolibrary.org/obo/HP_0002579	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	biolink:PhenotypicFeature	hp	MSH:D045822|SNOMEDCT_US:90738007|SNOMEDCT_US:9707006|UMLS:C0042961			http://purl.obolibrary.org/obo/HP_0002580	Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
HP:0002582	Chronic atrophic gastritis	biolink:PhenotypicFeature	hp	MSH:D005757|SNOMEDCT_US:84568007|UMLS:C0017154			http://purl.obolibrary.org/obo/HP_0002582	A form of chronic gastritis associated with atrophic gastric mucous membrane.
HP:0002583	Colitis	biolink:PhenotypicFeature	hp	MSH:D003092|SNOMEDCT_US:64226004|UMLS:C0009319			http://purl.obolibrary.org/obo/HP_0002583	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:712510007|UMLS:C0267373		Intestinal bleeding|Intestinal hemorrhage	http://purl.obolibrary.org/obo/HP_0002584	Bleeding from the intestines.
HP:0002585	Abnormality of the peritoneum	biolink:PhenotypicFeature	hp	UMLS:C4025698			http://purl.obolibrary.org/obo/HP_0002585	An abnormality of the peritoneum.
HP:0002586	Peritonitis	biolink:PhenotypicFeature	hp	MSH:D010538|SNOMEDCT_US:48661000|UMLS:C0031154		Inflammation of the peritoneum	http://purl.obolibrary.org/obo/HP_0002586	Inflammation of the peritoneum.
HP:0002587	Projectile vomiting	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8579004|UMLS:C0221151		Projectile vomiting	http://purl.obolibrary.org/obo/HP_0002587	Vomiting that ejects the gastric contents with great force.
HP:0002588	Duodenal ulcer	biolink:PhenotypicFeature	hp	MEDDRA:10013836|MSH:D004381|SNOMEDCT_US:367474008|SNOMEDCT_US:51868009|UMLS:C0013295	hposlim_core		http://purl.obolibrary.org/obo/HP_0002588	An erosion of the mucous membrane in a portion of the duodenum.
HP:0002589	Gastrointestinal atresia	biolink:PhenotypicFeature	hp	UMLS:C4025697		GI atresia	http://purl.obolibrary.org/obo/HP_0002589	
HP:0002590	Paralytic ileus	biolink:PhenotypicFeature	hp	MSH:D007418|SNOMEDCT_US:55525008|UMLS:C0030446			http://purl.obolibrary.org/obo/HP_0002590	
HP:0002591	Polyphagia	biolink:PhenotypicFeature	hp	MSH:D006963|SNOMEDCT_US:267023007|SNOMEDCT_US:58424009|SNOMEDCT_US:72405004|UMLS:C0020505|UMLS:C0232461		Voracious appetite|Increased appetite|Hyperphagia	http://purl.obolibrary.org/obo/HP_0002591	A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
HP:0002592	Gastric ulcer	biolink:PhenotypicFeature	hp	MEDDRA:10017822|MSH:D013276|SNOMEDCT_US:397825006|UMLS:C0038358	hposlim_core	Stomach ulcer	http://purl.obolibrary.org/obo/HP_0002592	An ulcer, that is, an erosion of an area of the gastric mucous membrane.
HP:0002593	Intestinal lymphangiectasia	biolink:PhenotypicFeature	hp	MSH:D008201|SNOMEDCT_US:197260007|UMLS:C0024215			http://purl.obolibrary.org/obo/HP_0002593	Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
HP:0002594	Pancreatic hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:68591005|UMLS:C0266267		Underdeveloped pancreas|Hypoplastic pancreas	http://purl.obolibrary.org/obo/HP_0002594	Hypoplasia of the pancreas.
HP:0002595	Ileus	biolink:PhenotypicFeature	hp	MEDDRA:10021328|MSH:D045823|UMLS:C1258215	hposlim_core	Gastrointestinal atony	http://purl.obolibrary.org/obo/HP_0002595	Acute obstruction of the intestines preventing passage of the contents of the intestines.
HP:0002597	Abnormality of the vasculature	biolink:PhenotypicFeature	hp	UMLS:C0241657		Abnormality of blood vessels|Abnormality of the vasculature|Vascular abnormalities	http://purl.obolibrary.org/obo/HP_0002597	An abnormality of the vasculature.
HP:0002599	Head titubation	biolink:PhenotypicFeature	hp	UMLS:C1608410			http://purl.obolibrary.org/obo/HP_0002599	A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
HP:0002600	Hyporeflexia of lower limbs	biolink:PhenotypicFeature	hp	UMLS:C1834696		Hyporeflexia in lower limbs|Hyporeflexia of the lower limbs|Hyporeflexia, lower limbs|Hyporeflexia/areflexia in lower limbs	http://purl.obolibrary.org/obo/HP_0002600	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	biolink:PhenotypicFeature	hp	UMLS:C4025696			http://purl.obolibrary.org/obo/HP_0002601	
HP:0002604	Gastrointestinal telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C1619711		GI telangiectasia|Small, enlarged blood vessels near skin	http://purl.obolibrary.org/obo/HP_0002604	Telangiectasia affecting the gastrointestinal tract.
HP:0002605	Hepatic necrosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87248009|UMLS:C0151798			http://purl.obolibrary.org/obo/HP_0002605	The presence of cell death (necrosis) affecting the liver.
HP:0002607	Bowel incontinence	biolink:PhenotypicFeature	hp	MSH:D005242|SNOMEDCT_US:72042002|UMLS:C0015732		Loss of bowel control|Anal incontinence|Fecal incontinence	http://purl.obolibrary.org/obo/HP_0002607	Involuntary fecal soiling in adults and children who have usually already been toilet trained.
HP:0002608	Celiac disease	biolink:PhenotypicFeature	hp	MSH:D002446|SNOMEDCT_US:396331005|UMLS:C0007570		Celiac disease|Coeliac disease|Celiac sprue	http://purl.obolibrary.org/obo/HP_0002608	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	biolink:PhenotypicFeature	hp	UMLS:C0860204			http://purl.obolibrary.org/obo/HP_0002611	
HP:0002612	Congenital hepatic fibrosis	biolink:PhenotypicFeature	hp	MSH:C562378|SNOMEDCT_US:79607001|UMLS:C0009714		Excessive buildup of connective tissue and scarring of liver at birth|Congenital liver fibrosis	http://purl.obolibrary.org/obo/HP_0002612	The presence of fibrosis of that part of the liver with congenital onset.
HP:0002613	Biliary cirrhosis	biolink:PhenotypicFeature	hp	MSH:D008105|SNOMEDCT_US:1761006|SNOMEDCT_US:31712002|UMLS:C0008312|UMLS:C0023892		Primary biliary cirrhosis	http://purl.obolibrary.org/obo/HP_0002613	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	biolink:PhenotypicFeature	hp	UMLS:C0546389			http://purl.obolibrary.org/obo/HP_0002614	A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.
HP:0002615	Hypotension	biolink:PhenotypicFeature	hp	MSH:D007022|SNOMEDCT_US:45007003|UMLS:C0020649		Low blood pressure|Arterial hypotension	http://purl.obolibrary.org/obo/HP_0002615	Low Blood Pressure, vascular hypotension.
HP:0002616	Aortic root aneurysm	biolink:PhenotypicFeature	hp	SNOMEDCT_US:251036003|UMLS:C0238669		Bulge in wall of root of large artery that carries blood away from heart|Aortic root dilatation|Increased aortic root diameter	http://purl.obolibrary.org/obo/HP_0002616	An abnormal localized widening (dilatation) of the aortic root.
HP:0002617	Vascular dilatation	biolink:PhenotypicFeature	hp	Fyler:2399|MSH:D000783|SNOMEDCT_US:432119003|SNOMEDCT_US:85659009|UMLS:C0002940|UMLS:C4020848		Wider than typical opening or gap|Aneurysm|Aneurysms|Aneurysmal disease|Aneurysmal dilatation	http://purl.obolibrary.org/obo/HP_0002617	Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
HP:0002619	Varicose veins	biolink:PhenotypicFeature	hp	MSH:D014648|SNOMEDCT_US:128060009|SNOMEDCT_US:12856003|SNOMEDCT_US:399989005|UMLS:C0042345			http://purl.obolibrary.org/obo/HP_0002619	Enlarged and tortuous veins.
HP:0002621	Atherosclerosis	biolink:PhenotypicFeature	hp	MSH:D050197|SNOMEDCT_US:38716007|UMLS:C0004153|UMLS:C4280569		Plaque build-up in arteries|Narrowing and hardening of arteries|Atherosclerotic cardiovascular disease	http://purl.obolibrary.org/obo/HP_0002621	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:0002622	obsolete Dissecting aortic dilatation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002622	
HP:0002623	Overriding aorta	biolink:PhenotypicFeature	hp	Fyler:1432|SNOMEDCT_US:63934006|UMLS:C0011818|UMLS:C0265886		Dextroposition of aorta|Overriding aortic valve	http://purl.obolibrary.org/obo/HP_0002623	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	biolink:PhenotypicFeature	hp	UMLS:C0241665		Abnormal vein|Venous abnormality	http://purl.obolibrary.org/obo/HP_0002624	An anomaly of vein.
HP:0002625	Deep venous thrombosis	biolink:PhenotypicFeature	hp	MSH:D020246|SNOMEDCT_US:128053003|UMLS:C0149871		Blood clot in a deep vein|Deep vein thrombosis|Multiple deep venous thrombosis	http://purl.obolibrary.org/obo/HP_0002625	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	biolink:PhenotypicFeature	hp	UMLS:C1857692		Venous varicosities of coeliac and mesenteric vessels	http://purl.obolibrary.org/obo/HP_0002626	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	biolink:PhenotypicFeature	hp	UMLS:C4025695			http://purl.obolibrary.org/obo/HP_0002627	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	biolink:PhenotypicFeature	hp	UMLS:C0744321		GI arteriovenous malformation	http://purl.obolibrary.org/obo/HP_0002629	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197494007|UMLS:C0554103			http://purl.obolibrary.org/obo/HP_0002630	Abnormality of the absorption of fat from the gastrointestinal tract.
HP:0002631	obsolete Dilatation of ascending aorta	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002631	
HP:0002632	Low-to-normal blood pressure	biolink:PhenotypicFeature	hp	UMLS:C1866500		Low-to-normal BP|Low-to-normal blood pressure	http://purl.obolibrary.org/obo/HP_0002632	
HP:0002633	Vasculitis	biolink:PhenotypicFeature	hp	MSH:D014657|SNOMEDCT_US:31996006|UMLS:C0042384		Inflammation of blood vessel|Angiitis	http://purl.obolibrary.org/obo/HP_0002633	Inflammation of blood vessel.
HP:0002634	Arteriosclerosis	biolink:PhenotypicFeature	hp	MSH:D001161|SNOMEDCT_US:107671003|SNOMEDCT_US:28960008|SNOMEDCT_US:72092001|UMLS:C0003850|UMLS:C4280568		Hardened artery wall	http://purl.obolibrary.org/obo/HP_0002634	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	biolink:PhenotypicFeature	hp	MSH:D050197|SNOMEDCT_US:38716007|UMLS:C0004153		Atheromatosis	http://purl.obolibrary.org/obo/HP_0002635	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	biolink:PhenotypicFeature	hp	UMLS:C4025694		Aneurysm of an abdominal artery	http://purl.obolibrary.org/obo/HP_0002636	Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.
HP:0002637	Cerebral ischemia	biolink:PhenotypicFeature	hp	MSH:D002545|SNOMEDCT_US:287731003|SNOMEDCT_US:389100007|UMLS:C0007786|UMLS:C0917798		Disruption of blood oxygen supply to brain|Brain ischemia|Cerebrovascular ischemia	http://purl.obolibrary.org/obo/HP_0002637	
HP:0002638	Superficial thrombophlebitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2477008|UMLS:C1510431			http://purl.obolibrary.org/obo/HP_0002638	Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
HP:0002639	Budd-Chiari syndrome	biolink:PhenotypicFeature	hp	MSH:D006502|SNOMEDCT_US:82385007|UMLS:C0856761			http://purl.obolibrary.org/obo/HP_0002639	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	biolink:PhenotypicFeature	hp	UMLS:C4025693			http://purl.obolibrary.org/obo/HP_0002640	A type of hypertension associated with pheochromocytoma.
HP:0002641	Peripheral thrombosis	biolink:PhenotypicFeature	hp	UMLS:C1849749		Peripheral blood clot	http://purl.obolibrary.org/obo/HP_0002641	
HP:0002642	Arteriovenous fistulas of celiac and mesenteric vessels	biolink:PhenotypicFeature	hp	UMLS:C1857693		Arteriovenous fistulas of coeliac and mesenteric vessels	http://purl.obolibrary.org/obo/HP_0002642	
HP:0002643	Neonatal respiratory distress	biolink:PhenotypicFeature	hp	UMLS:C0852283		Infantile respiratory distress|Neonatal respiratory distress|Newborn respiratory distress|Respiratory distress, neonatal	http://purl.obolibrary.org/obo/HP_0002643	Respiratory difficulty as newborn.
HP:0002644	Abnormality of pelvic girdle bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4020847		Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle	http://purl.obolibrary.org/obo/HP_0002644	An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
HP:0002645	Wormian bones	biolink:PhenotypicFeature	hp	SNOMEDCT_US:113194005|UMLS:C0222716	hposlim_core	Extra bones within cranial sutures|Intra sutural bones|Intrasutural bones|Islands of bone within cranial sutures	http://purl.obolibrary.org/obo/HP_0002645	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:308546005|UMLS:C0340643		Tear in inner wall of large artery that carries blood away from heart	http://purl.obolibrary.org/obo/HP_0002647	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:0002648	Abnormality of calvarial morphology	biolink:PhenotypicFeature	hp	UMLS:C4025692|UMLS:C4280260		Abnormality of the shape of skull bones|Abnormality of the shape of cranium|Abnormally shaped skull|Abnormality of skull bone morphology|Abnormal cranium morphology|Abnormality of cranial bone morphology|Abnormality of the shape of calvarium	http://purl.obolibrary.org/obo/HP_0002648	The presence of an abnormal shape 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:0002650	Scoliosis	biolink:PhenotypicFeature	hp	Fyler:4160|MSH:D013121|SNOMEDCT_US:111266001|SNOMEDCT_US:64217002|UMLS:C0037932|UMLS:C0700208	hposlim_core		http://purl.obolibrary.org/obo/HP_0002650	The presence of an abnormal lateral curvature of the spine.
HP:0002651	Spondyloepimetaphyseal dysplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254062008|UMLS:C0432211			http://purl.obolibrary.org/obo/HP_0002651	
HP:0002652	Skeletal dysplasia	biolink:PhenotypicFeature	hp	MSH:D010009|SNOMEDCT_US:105985007|SNOMEDCT_US:240190009|UMLS:C0029422|UMLS:C4280567		Abnormal skeletal development	http://purl.obolibrary.org/obo/HP_0002652	A general term describing features characterized by abnormal development of bones and connective tissues.
HP:0002653	Bone pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:12584003|UMLS:C0151825		Bone pain	http://purl.obolibrary.org/obo/HP_0002653	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
HP:0002654	Multiple epiphyseal dysplasia	biolink:PhenotypicFeature	hp	MSH:D010009|SNOMEDCT_US:59708000|UMLS:C0026760			http://purl.obolibrary.org/obo/HP_0002654	
HP:0002655	Spondyloepiphyseal dysplasia	biolink:PhenotypicFeature	hp	MSH:D010009|UMLS:C0038015		Spondyloepiphyseal dysplasia tarda	http://purl.obolibrary.org/obo/HP_0002655	A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
HP:0002656	Epiphyseal dysplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254080004|UMLS:C0392476|UMLS:C4280566		Abnormal development of end part of bone|Abnormal development of the ends of long bones in arms and legs	http://purl.obolibrary.org/obo/HP_0002656	
HP:0002657	Spondylometaphyseal dysplasia	biolink:PhenotypicFeature	hp	MSH:C537501|SNOMEDCT_US:702350003|UMLS:C0700635			http://purl.obolibrary.org/obo/HP_0002657	
HP:0002659	Increased susceptibility to fractures	biolink:PhenotypicFeature	hp	UMLS:C1390474		Abnormal susceptibility to fractures|Bone fragility|Frequent broken bones|Increased bone fragility|Increased susceptibility to fractures|Increased tendency to fractures	http://purl.obolibrary.org/obo/HP_0002659	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	biolink:PhenotypicFeature	hp	UMLS:C1837602		Painless fractures due to injury	http://purl.obolibrary.org/obo/HP_0002661	An increased tendency to fractures following trauma, with fractures occurring without pain.
HP:0002663	Delayed epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C1865200|UMLS:C4280565		Delayed maturation of end part of long bone|Delayed epiphyseal maturation|Delayed epiphyseal ossification|Delayed opacification of the epiphyses|Epiphyseal ossification delay	http://purl.obolibrary.org/obo/HP_0002663	
HP:0002664	Neoplasm	biolink:PhenotypicFeature	hp	MSH:D009369|NCIT:C3262|SNOMEDCT_US:108369006|SNOMEDCT_US:363346000|UMLS:C0006826|UMLS:C0027651		Abnormal tissue mass|Cancer|Neoplasia|Oncological abnormality|Tumor|Tumour|Oncology	http://purl.obolibrary.org/obo/HP_0002664	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 (tumour).
HP:0002665	Lymphoma	biolink:PhenotypicFeature	hp	MSH:D008223|NCIT:C7065|SNOMEDCT_US:115244002|SNOMEDCT_US:118600007|SNOMEDCT_US:188676008|SNOMEDCT_US:21964009|UMLS:C0024299		Cancer of lymphatic system	http://purl.obolibrary.org/obo/HP_0002665	A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
HP:0002666	Pheochromocytoma	biolink:PhenotypicFeature	hp	MSH:D010673|NCIT:C3326|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|SNOMEDCT_US:85583005|UMLS:C0031511		Chromaffin tumors	http://purl.obolibrary.org/obo/HP_0002666	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	biolink:PhenotypicFeature	hp	MSH:D009396|NCIT:C40407|SNOMEDCT_US:25081006|SNOMEDCT_US:302849000|UMLS:C0027708		Wilm's tumor|Wilms tumor	http://purl.obolibrary.org/obo/HP_0002667	The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
HP:0002668	Paraganglioma	biolink:PhenotypicFeature	hp	MSH:D010235|NCIT:C3308|SNOMEDCT_US:127027008|SNOMEDCT_US:253029009|SNOMEDCT_US:302833002|SNOMEDCT_US:72787006|SNOMEDCT_US:803009|UMLS:C0030421		Carotid body tumors|Paragangliomas	http://purl.obolibrary.org/obo/HP_0002668	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	biolink:PhenotypicFeature	hp	MSH:D012516|NCIT:C9145|SNOMEDCT_US:21708004|SNOMEDCT_US:307576001|UMLS:C0029463		Bone cell cancer|Osteogenic sarcoma	http://purl.obolibrary.org/obo/HP_0002669	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	biolink:PhenotypicFeature	hp	MSH:D002280|NCIT:C2921|SNOMEDCT_US:1338007|SNOMEDCT_US:254701007|SNOMEDCT_US:275265005|UMLS:C0007117|UMLS:C1862314		Basal cell carcinomas|Basal cell epithelioma|Basal cell nevus|Basalioma	http://purl.obolibrary.org/obo/HP_0002671	The presence of a basal cell carcinoma of the skin.
HP:0002672	Gastrointestinal carcinoma	biolink:PhenotypicFeature	hp	UMLS:C0151544		GI carcinoma	http://purl.obolibrary.org/obo/HP_0002672	
HP:0002673	Coxa valga	biolink:PhenotypicFeature	hp	MSH:D060906|SNOMEDCT_US:299236004|UMLS:C0239137|UMLS:C3549698		Coxa valga deformity	http://purl.obolibrary.org/obo/HP_0002673	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	biolink:PhenotypicFeature	hp	UMLS:C1860050|UMLS:C4280564	hposlim_core	Cloverleaf cranium shape|Cloverleaf skull shape|Trilobar cranium shape|Trilobar skull shape|Kleeblattschaedel	http://purl.obolibrary.org/obo/HP_0002676	Trilobar skull configuration when viewed from the front or behind.
HP:0002677	Small foramen magnum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:444879009|UMLS:C1535953|UMLS:C1861217|UMLS:C4072838	hposlim_core	Little foramen magnum|Narrow foramen magnum|Foramen magnum stenosis|Hypoplasia of foramen magnum|Stenosis of foramen magnum	http://purl.obolibrary.org/obo/HP_0002677	An abnormal narrowing of the foramen magnum.
HP:0002678	Skull asymmetry	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248372000|UMLS:C0424690|UMLS:C4280562|UMLS:C4280563		Abnormality of skull shape|Unequal skull shape|Uneven skull shape|Asymmetry of skull|Skull asymmetry|Malformation of skull shape	http://purl.obolibrary.org/obo/HP_0002678	
HP:0002679	Abnormality of the sella turcica	biolink:PhenotypicFeature	hp	UMLS:C4021754|UMLS:C4072839	hposlim_core	Anomaly of the sella turcica|Abnormality of the hypophysial fossa|Abnormality of the pituitary fossa|Anomaly of the hypophysial fossa|Anomaly of the pituitary fossa	http://purl.obolibrary.org/obo/HP_0002679	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	biolink:PhenotypicFeature	hp	UMLS:C1854718|UMLS:C4072841|UMLS:C4072842	hposlim_core	Hour glass shaped hypophysial fossa|Hour glass shaped pituitary fossa|Hour glass shaped sella turcica|J-shaped sella|Omega shaped sella turcica|J-shaped hypophysial fossa|J-shaped pituitary fossa|Omega shaped hypophysial fossa|Omega shaped pituitary fossa	http://purl.obolibrary.org/obo/HP_0002680	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	biolink:PhenotypicFeature	hp	UMLS:C1846437		Abnormal shape of hypophysial fossa|Abnormal shape of pituitary fossa|Abnormal shape of sella turcica|Deformity of hypophysial fossa|Deformity of pituitary fossa|Malformation of hypophysial fossa|Malformation of pituitary fossa|Malformation of sella turcica	http://purl.obolibrary.org/obo/HP_0002681	
HP:0002682	Broad skull	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248374004|UMLS:C0424693		Broad skull|Increased width of skull|Wide skull|Broad cranium|Increased width of cranium|Wide cranium	http://purl.obolibrary.org/obo/HP_0002682	Increased width of the skull.
HP:0002683	Abnormality of the calvaria	biolink:PhenotypicFeature	hp	UMLS:C4025691|UMLS:C4280561		Abnormality of cranium|Abnormality of the skull cap|Abnormality of the skullcap|Abnormality of calvarium|Abnormality of cranial vault	http://purl.obolibrary.org/obo/HP_0002683	Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.
HP:0002684	Thickened calvaria	biolink:PhenotypicFeature	hp	UMLS:C1858452|UMLS:C4280560		Increased thickness of skull cap|Thickened skull cap|Increased thickness of cranium|Calvarial thickening|Calvarium thickened|Increased calvarial thickness|Increased thickness of calvaria|Increased thickness of calvarium|Increased thickness of cranial vault|Thick calvaria|Thick calvarium|Thickened calvaria|Thickened calvarium|Thickened cranial vault|Thickened cranium|Thickening of the calvaria	http://purl.obolibrary.org/obo/HP_0002684	The presence of an abnormally thick calvaria.
HP:0002686	Prenatal maternal abnormality	biolink:PhenotypicFeature	hp	UMLS:C4025690		Maternal health problem	http://purl.obolibrary.org/obo/HP_0002686	
HP:0002687	Abnormality of frontal sinus	biolink:PhenotypicFeature	hp	UMLS:C4025689		Abnormality of the forehead sinus|Abnormality of sinus frontalis	http://purl.obolibrary.org/obo/HP_0002687	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	biolink:PhenotypicFeature	hp	UMLS:C1855669|UMLS:C4280559	hposlim_core	Absence of frontal sinuses|Absent frontal sinus|Missing frontal sinus|Aplasia of frontal sinus|Aplasia sinus frontalis	http://purl.obolibrary.org/obo/HP_0002688	Aplasia of frontal sinus.
HP:0002689	Absent paranasal sinuses	biolink:PhenotypicFeature	hp	UMLS:C1857131|UMLS:C3804986|UMLS:C4072844		Missing sinuses|Missing paranasal sinuses|Absence of paranasal sinuses|Aplasia of paranasal sinuses	http://purl.obolibrary.org/obo/HP_0002689	Aplasia of the paranasal sinuses.
HP:0002690	Large sella turcica	biolink:PhenotypicFeature	hp	UMLS:C1843677|UMLS:C4072845|UMLS:C4072846	hposlim_core	Big sella turcica|Large hypophysial fossa|Large pituitary fossa|Enlarged sella turcica|Hyperplasia of sella turcica|Prominent sella turcica|Hyperplasia of hypophysial fossa|Hyperplasia of pituitary fossa	http://purl.obolibrary.org/obo/HP_0002690	An abnormal enlargement of the sella turcica.
HP:0002691	Platybasia	biolink:PhenotypicFeature	hp	MSH:D010985|SNOMEDCT_US:86587003|UMLS:C0032209	hposlim_core	Flattening of the skull base|Increased basal angle of skull base|Obtuse basal angle of skull base	http://purl.obolibrary.org/obo/HP_0002691	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	biolink:PhenotypicFeature	hp	UMLS:C1846438|UMLS:C4229090|UMLS:C4280268|UMLS:C4280557|UMLS:C4280558		Small facial bones|Small facial skeleton|Underdevelopment of facial bones|Underdevelopment of facial skeleton|Decreased size of facial bones|Decreased size of facial skeleton|Flattening of facial bones|Flattening of facial skeleton|Hypoplasia of facial skeleton|Hypotrophic facial bones|Hypotrophic facial skeleton	http://purl.obolibrary.org/obo/HP_0002692	
HP:0002693	Abnormality of the skull base	biolink:PhenotypicFeature	hp	UMLS:C4025688		Abnormality of the skull base|Abnormality of cranial base	http://purl.obolibrary.org/obo/HP_0002693	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	biolink:PhenotypicFeature	hp	UMLS:C1851714|UMLS:C4072847|UMLS:C4072848		Dense bone of skull base|HyperCalcification of skull base|HyperMineralization of skull base|HyperOssification of skull base|HyperOstosis of skull base|Marked sclerosis of skull base|Sclerosis of cranial base|Sclerosis of the skull base|Sclerotic skull base	http://purl.obolibrary.org/obo/HP_0002694	Increased bone density of the skull base without significant changes in bony contour.
HP:0002695	Symmetrical, oval parietal bone defects	biolink:PhenotypicFeature	hp	UMLS:C1865045		Symmetrical, oval defects in the parietal bone	http://purl.obolibrary.org/obo/HP_0002695	
HP:0002696	Abnormal parietal bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4021834		Abnormality of the parietal bone|Abnormality of the parietal bone of skull	http://purl.obolibrary.org/obo/HP_0002696	Any abnormality of the parietal bone of the skull.
HP:0002697	Parietal foramina	biolink:PhenotypicFeature	hp	SNOMEDCT_US:11240000|SNOMEDCT_US:29307005|UMLS:C0222706|UMLS:C4280556		Holes in parietal bones|Openings in parietal bones|Persistent foramina of the parietal bones	http://purl.obolibrary.org/obo/HP_0002697	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	Abnormality of the foramen magnum	biolink:PhenotypicFeature	hp	UMLS:C4025687	hposlim_core		http://purl.obolibrary.org/obo/HP_0002699	Any abnormality of the foramen magnum.
HP:0002700	Large foramen magnum	biolink:PhenotypicFeature	hp	UMLS:C1844508|UMLS:C4073291|UMLS:C4280554|UMLS:C4280555	hposlim_core	Big foramen magnum|Dilation of foramen magnum|Wide foramen magnum|enlarged foramen magnum|Hyperplasia of foramen magnum|Increased circumference of foramen magnum|Increased diameter of foramen magnum	http://purl.obolibrary.org/obo/HP_0002700	An abnormal increase in the size of the foramen magnum.
HP:0002703	Abnormality of skull ossification	biolink:PhenotypicFeature	hp	UMLS:C4025686|UMLS:C4280550|UMLS:C4280551|UMLS:C4280552|UMLS:C4280553		Abnormality of skull bone formation|Abnormality of bone formation of cranium|Abnormality of ossification of calvarium|Abnormality of ossification of cranium|Abnormality of bone calcification of calvarium|Abnormality of bone calcification of cranium|Abnormality of bone calcification of skull|Abnormality of bone formation of calvarium|Abnormality of bone mineralization of calvarium|Abnormality of bone mineralization of cranium|Abnormality of bone mineralization of skull	http://purl.obolibrary.org/obo/HP_0002703	An abnormality of the process of ossification of the skull.
HP:0002705	High, narrow palate	biolink:PhenotypicFeature	hp	UMLS:C1837404		High, narrow palate|Narrow, high-arched roof of mouth|Narrow, highly arched roof of mouth|Gothic palate|High narrow palate|High vaulted palate|Narrow and high arched palate|Narrow, high-arched palate|Narrow, highly arched palate	http://purl.obolibrary.org/obo/HP_0002705	The presence of a high and narrow palate.
HP:0002707	Palate telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C1857699|UMLS:C4280267		Telangiectasia of the roof of the mouth|Palatal spider veins|Spider veins of the roof of the mouth|Palatal angioectasia|Palatal telangiectasia|Palate telangiectases|Palate teleangiectases	http://purl.obolibrary.org/obo/HP_0002707	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	biolink:PhenotypicFeature	hp	UMLS:C1845108		Prominent central ridge on roof of the mouth|Prominent central palatal ridge|Prominent medial palatal suture	http://purl.obolibrary.org/obo/HP_0002708	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	biolink:PhenotypicFeature	hp	UMLS:C0399605	hposlim_core	Lip pits at corners of the mouth|Pits at the corners of the lips|Commissural labial pits|Commissural pit	http://purl.obolibrary.org/obo/HP_0002710	A depression located at an oral commissure.
HP:0002711	Exaggerated median tongue furrow	biolink:PhenotypicFeature	hp	UMLS:C1845109		Deep central lingual groove|Deep central tongue groove|Deep central lingual furrow|Deep central tongue furrow|Deep median lingual furrow|Deep median lingual groove|Deep median tongue furrow|Deep median tongue groove|Exaggerated median lingual furrow	http://purl.obolibrary.org/obo/HP_0002711	Increased depth of the median tongue furrow.
HP:0002714	Downturned corners of mouth	biolink:PhenotypicFeature	hp	UMLS:C1866195	hposlim_core	Downturned corners of mouth|Downturned corners of the mouth|Downturned mouth|Downturned oral commisures	http://purl.obolibrary.org/obo/HP_0002714	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	biolink:PhenotypicFeature	hp	UMLS:C4021753		Abnormality of the immune system|Immunological abnormality	http://purl.obolibrary.org/obo/HP_0002715	An abnormality of the immune system.
HP:0002716	Lymphadenopathy	biolink:PhenotypicFeature	hp	MSH:D000072281|SNOMEDCT_US:30746006|UMLS:C0497156		Swollen lymph nodes|Lymph node hyperplasia	http://purl.obolibrary.org/obo/HP_0002716	Enlargment (swelling) of a lymph node.
HP:0002717	Adrenal overactivity	biolink:PhenotypicFeature	hp	UMLS:C4025685			http://purl.obolibrary.org/obo/HP_0002717	
HP:0002718	Recurrent bacterial infections	biolink:PhenotypicFeature	hp	SNOMEDCT_US:428875002|UMLS:C1844383|UMLS:C2748958|UMLS:C4020846		Bacterial infections, recurrent|Frequent bacterial infections|Increased susceptibility to bacterial infections|Recurrent bacterial infections|Recurrent major bacterial infections|Prone to bacterial infection|Frequent pyogenic infections|Recurrent pyogenic infections|Susceptibility to pyogenic infection	http://purl.obolibrary.org/obo/HP_0002718	Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
HP:0002719	Recurrent infections	biolink:PhenotypicFeature	hp	UMLS:C0239998		Frequent infections|Frequent, severe infections|Increased frequency of infection|Predisposition to infections|Recurrent infections|Susceptibility to infection|infections, recurrent	http://purl.obolibrary.org/obo/HP_0002719	Increased susceptibility to infections.
HP:0002720	Decreased circulating IgA level	biolink:PhenotypicFeature	hp	MSH:D017098|SNOMEDCT_US:29260007|UMLS:C0162538		Decreased IgA|Decreased immunoglobulin A|Gamma-A globulin deficiency|IgA deficiency|Low levels of immunoglobulin A|Reduced IgA levels	http://purl.obolibrary.org/obo/HP_0002720	Decreased levels of immunoglobulin A (IgA).
HP:0002721	Immunodeficiency	biolink:PhenotypicFeature	hp	MSH:D007153|SNOMEDCT_US:234532001|UMLS:C0021051		Decreased immune function|Immune deficiency	http://purl.obolibrary.org/obo/HP_0002721	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	biolink:PhenotypicFeature	hp	UMLS:C4025684			http://purl.obolibrary.org/obo/HP_0002722	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	biolink:PhenotypicFeature	hp	UMLS:C1844385			http://purl.obolibrary.org/obo/HP_0002723	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	biolink:PhenotypicFeature	hp	UMLS:C4021752		Aspergillus infections, recurrent	http://purl.obolibrary.org/obo/HP_0002724	An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
HP:0002725	Systemic lupus erythematosus	biolink:PhenotypicFeature	hp	MSH:D008180|SNOMEDCT_US:55464009|UMLS:C0024141		SLE	http://purl.obolibrary.org/obo/HP_0002725	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	biolink:PhenotypicFeature	hp	UMLS:C2673462		Staphylococcus aureus infections, recurrent	http://purl.obolibrary.org/obo/HP_0002726	Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
HP:0002728	Chronic mucocutaneous candidiasis	biolink:PhenotypicFeature	hp	MSH:D002178|SNOMEDCT_US:234568006|UMLS:C0006845		Chronic candidiasis of mucosa, skin and nails|Mucocutaneous candidiasis	http://purl.obolibrary.org/obo/HP_0002728	Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
HP:0002729	Follicular hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C4014733			http://purl.obolibrary.org/obo/HP_0002729	Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
HP:0002730	Chronic noninfectious lymphadenopathy	biolink:PhenotypicFeature	hp	UMLS:C1858970			http://purl.obolibrary.org/obo/HP_0002730	A chronic form of lymphadenopathy that is not related to infection.
HP:0002731	Decreased lymphocyte apoptosis	biolink:PhenotypicFeature	hp	UMLS:C1858969		Defective lymphocyte apoptosis	http://purl.obolibrary.org/obo/HP_0002731	A reduction in the rate of apoptosis in lymphocytes.
HP:0002732	Lymph node hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1865377|UMLS:C4025683		Small lymph nodes	http://purl.obolibrary.org/obo/HP_0002732	Underdevelopment of the lymph nodes.
HP:0002733	Abnormality of the lymph nodes	biolink:PhenotypicFeature	hp	UMLS:C0149727		Abnormal lymph node histology|Abnormality of the lymph nodes	http://purl.obolibrary.org/obo/HP_0002733	A lymph node abnormality.
HP:0002737	Thick skull base	biolink:PhenotypicFeature	hp	UMLS:C1839507		Increased thickness of bone of skull base|Increased thickness of skull base|Thick skull base	http://purl.obolibrary.org/obo/HP_0002737	
HP:0002738	Hypoplastic frontal sinuses	biolink:PhenotypicFeature	hp	UMLS:C1859682|UMLS:C4280548|UMLS:C4280549		Decreased volume of frontal sinuses|Small frontal sinuses|Underdeveloped frontal sinuses|Decreased pneumatization of frontal sinus|Hypotrophic frontal sinus	http://purl.obolibrary.org/obo/HP_0002738	Underdevelopment of frontal sinus.
HP:0002740	Recurrent E. coli infections	biolink:PhenotypicFeature	hp	MSH:D004927|SNOMEDCT_US:71057007|UMLS:C0014836		E coli infections|E coli infections, recurrent	http://purl.obolibrary.org/obo/HP_0002740	Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
HP:0002741	Recurrent Serratia marcescens infections	biolink:PhenotypicFeature	hp	UMLS:C4025682			http://purl.obolibrary.org/obo/HP_0002741	Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
HP:0002742	Recurrent Klebsiella infections	biolink:PhenotypicFeature	hp	UMLS:C4021751		Klebsiella infections, recurrent	http://purl.obolibrary.org/obo/HP_0002742	Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
HP:0002743	Recurrent enteroviral infections	biolink:PhenotypicFeature	hp	UMLS:C4025681			http://purl.obolibrary.org/obo/HP_0002743	Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
HP:0002744	Bilateral cleft lip and palate	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1085331000119107|UMLS:C1398522		Right and left cleft lip and palate|Bilateral cleft lip and cleft palate	http://purl.obolibrary.org/obo/HP_0002744	Cleft lip and cleft palate affecting both sides of the face.
HP:0002745	Oral leukoplakia	biolink:PhenotypicFeature	hp	MSH:D007971|MSH:D007972|SNOMEDCT_US:414603003|SNOMEDCT_US:9187004|UMLS:C0023532|UMLS:C1704317	hposlim_core	Oral white patch|Oral idiopathic keratosis|Oral idiopathic leukoplakia|Oral idiopathic white patch|Oral leucoplakia|Oral leukokeratosis|Oral leukoplasia|Oral white plaque|leukokeratosis	http://purl.obolibrary.org/obo/HP_0002745	A thickened white patch on the oral mucosa that cannot be rubbed off.
HP:0002747	Respiratory insufficiency due to muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C3806467		Decreased lung function due to weak breathing muscles|Decreased respiratory function due to muscle weakness|Respiratory distress due to muscle weakness|Respiratory failure due to muscle weakness|Respiratory muscle weakness	http://purl.obolibrary.org/obo/HP_0002747	
HP:0002748	Rickets	biolink:PhenotypicFeature	hp	MSH:D012279|SNOMEDCT_US:41345002|UMLS:C0035579		Weak and soft bones	http://purl.obolibrary.org/obo/HP_0002748	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4598005|UMLS:C0029442		Softening of the bones	http://purl.obolibrary.org/obo/HP_0002749	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:123983008|UMLS:C0541764		Delayed bone maturation|Delayed skeletal development|Delayed bone age|Delayed bone age before puberty|Retarded bone age|Skeletal maturation retardation|Retarded ossification	http://purl.obolibrary.org/obo/HP_0002750	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405773007|UMLS:C0575158			http://purl.obolibrary.org/obo/HP_0002751	An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
HP:0002752	Sparse bone trabeculae	biolink:PhenotypicFeature	hp	UMLS:C1833324			http://purl.obolibrary.org/obo/HP_0002752	
HP:0002753	Thin bony cortex	biolink:PhenotypicFeature	hp	UMLS:C1833325		Thin cortices	http://purl.obolibrary.org/obo/HP_0002753	Abnormal thinning of the cortical region of bones.
HP:0002754	Osteomyelitis	biolink:PhenotypicFeature	hp	MSH:D010019|SNOMEDCT_US:111253001|SNOMEDCT_US:60168000|UMLS:C0029443|UMLS:C2242472		Bone infection	http://purl.obolibrary.org/obo/HP_0002754	Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
HP:0002755	obsolete Osteomyelitis due to immunodeficiency	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002755	
HP:0002756	Pathologic fracture	biolink:PhenotypicFeature	hp	MSH:D005598|SNOMEDCT_US:22640007|SNOMEDCT_US:268029009|UMLS:C0016663		Spontaneous fracture|Pathologic fractures|Spontaneous fractures	http://purl.obolibrary.org/obo/HP_0002756	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	biolink:PhenotypicFeature	hp	MSH:D000069076|SNOMEDCT_US:134291007|SNOMEDCT_US:5468008|UMLS:C0016655|UMLS:C1833752|UMLS:C3805574|UMLS:C3806283		Increased fracture rate|Increased fractures|Multiple fractures|Multiple spontaneous fractures|Recurrent fractures|Varying degree of multiple fractures|Frequent fractures	http://purl.obolibrary.org/obo/HP_0002757	The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
HP:0002758	Osteoarthritis	biolink:PhenotypicFeature	hp	MSH:D010003|SNOMEDCT_US:225655006|SNOMEDCT_US:396275006|UMLS:C0029408		Degenerative joint disease	http://purl.obolibrary.org/obo/HP_0002758	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	biolink:PhenotypicFeature	hp	UMLS:C1836308		Hypermobility of all joints|Generalised joint laxity|Joint laxity, generalized	http://purl.obolibrary.org/obo/HP_0002761	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	biolink:PhenotypicFeature	hp	MSH:D005097|SNOMEDCT_US:254044004|UMLS:C0015306			http://purl.obolibrary.org/obo/HP_0002762	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	biolink:PhenotypicFeature	hp	UMLS:C4025680		Abnormal shape of cartilage|Abnormality of cartilage morphology	http://purl.obolibrary.org/obo/HP_0002763	Any morphological abnormality of cartilage.
HP:0002764	Stippled chondral calcification	biolink:PhenotypicFeature	hp	UMLS:C4025679			http://purl.obolibrary.org/obo/HP_0002764	Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).
HP:0002766	Relatively short spine	biolink:PhenotypicFeature	hp	UMLS:C3277114		Relatively short spine	http://purl.obolibrary.org/obo/HP_0002766	
HP:0002773	obsolete Small vertebral bodies	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002773	
HP:0002777	Tracheal stenosis	biolink:PhenotypicFeature	hp	MSH:D014135|SNOMEDCT_US:11296007|UMLS:C0040583		Narrowing of windpipe	http://purl.obolibrary.org/obo/HP_0002777	
HP:0002778	Abnormal trachea morphology	biolink:PhenotypicFeature	hp	MSH:D014133|SNOMEDCT_US:47125007|UMLS:C0040580|UMLS:C4025678		Abnormality of the trachea|Tracheal disease	http://purl.obolibrary.org/obo/HP_0002778	A structural anomaly of the trachea.
HP:0002779	Tracheomalacia	biolink:PhenotypicFeature	hp	MSH:D055090|SNOMEDCT_US:95434006|UMLS:C0948187		Floppy windpipe	http://purl.obolibrary.org/obo/HP_0002779	
HP:0002780	Bronchomalacia	biolink:PhenotypicFeature	hp	MSH:D055091|SNOMEDCT_US:54203008|UMLS:C0264353			http://purl.obolibrary.org/obo/HP_0002780	Weakness or softness of the cartilage in the walls of the bronchial tubes.
HP:0002781	Upper airway obstruction	biolink:PhenotypicFeature	hp	UMLS:C0740852	hposlim_core	Upper airway obstruction	http://purl.obolibrary.org/obo/HP_0002781	Increased resistance to the passage of air in the upper airway.
HP:0002783	Recurrent lower respiratory tract infections	biolink:PhenotypicFeature	hp	SNOMEDCT_US:448739000|SNOMEDCT_US:50417007|UMLS:C0149725|UMLS:C0585953|UMLS:C3163798		Recurrent chest infections|Chronic lung infections|Lower respiratory tract infections	http://purl.obolibrary.org/obo/HP_0002783	An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
HP:0002786	Tracheobronchomalacia	biolink:PhenotypicFeature	hp	MSH:D055089|SNOMEDCT_US:233788001|UMLS:C0340231			http://purl.obolibrary.org/obo/HP_0002786	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:81089005|UMLS:C0264324		Tracheal calcifications|Calcification of the trachea|Tracheal ectopic calcification	http://purl.obolibrary.org/obo/HP_0002787	Calcification (abnormal deposits of calcium) in the tracheal tissues.
HP:0002788	Recurrent upper respiratory tract infections	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195708003|UMLS:C0581381		Recurrent URI|Recurrent colds|Frequent upper respiratory infections|Frequent upper respiratory tract infections|Recurrent upper respiratory and lower respiratory infections|Recurrent upper respiratory infection|Recurrent upper respiratory infections|Upper respiratory tract infections|Upper respiratory tract infections, recurrent	http://purl.obolibrary.org/obo/HP_0002788	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	biolink:PhenotypicFeature	hp	MSH:D059246|SNOMEDCT_US:271823003|UMLS:C0231835		Increased respiratory rate or depth of breathing|Polypnea	http://purl.obolibrary.org/obo/HP_0002789	Very rapid breathing.
HP:0002790	Neonatal breathing dysregulation	biolink:PhenotypicFeature	hp	UMLS:C3806216		Impaired breathing in newborn	http://purl.obolibrary.org/obo/HP_0002790	
HP:0002791	Hypoventilation	biolink:PhenotypicFeature	hp	MSH:D007040|MSH:D012131|SNOMEDCT_US:15993004|SNOMEDCT_US:31515003|SNOMEDCT_US:80954004|UMLS:C0235063|UMLS:C3203358		Slow breathing|Under breathing|Alveolar hypoventilation|Respiratory depression	http://purl.obolibrary.org/obo/HP_0002791	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274715008|SNOMEDCT_US:607007|UMLS:C0476408|UMLS:C0520831		Decreased vital capacity	http://purl.obolibrary.org/obo/HP_0002792	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	biolink:PhenotypicFeature	hp	UMLS:C1837388		Abnormal pattern of respiration|Abnormal respiratory patterns|Unusual breathing patterns	http://purl.obolibrary.org/obo/HP_0002793	An anomaly of the rhythm or depth of breathing.
HP:0002795	Abnormal respiratory system physiology	biolink:PhenotypicFeature	hp	Fyler:4200|UMLS:C4025677		Functional respiratory abnormality|Respiratory problem|Abnormal respiration	http://purl.obolibrary.org/obo/HP_0002795	
HP:0002797	Osteolysis	biolink:PhenotypicFeature	hp	MSH:D010014|SNOMEDCT_US:203522001|SNOMEDCT_US:30425001|UMLS:C0221204		Breakdown of bone|Increased bone resorption|Osteolytic defects of bones	http://purl.obolibrary.org/obo/HP_0002797	Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
HP:0002803	Congenital contracture	biolink:PhenotypicFeature	hp	UMLS:C0332878		Congenital joint contractures|congenital contractures	http://purl.obolibrary.org/obo/HP_0002803	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	biolink:PhenotypicFeature	hp	MSH:D001176|SNOMEDCT_US:111246005|SNOMEDCT_US:77016009|UMLS:C0003886		Arthrogryposis|Arthrogryposis multiplex|Arthrogryposis, congenital|Multiple congenital contractures	http://purl.obolibrary.org/obo/HP_0002804	Multiple congenital contractures in different body areas.
HP:0002805	Accelerated bone age after puberty	biolink:PhenotypicFeature	hp	UMLS:C1860825		Accelerated bone age after puberty	http://purl.obolibrary.org/obo/HP_0002805	
HP:0002808	Kyphosis	biolink:PhenotypicFeature	hp	MSH:D007738|SNOMEDCT_US:414564002|UMLS:C0022821|UMLS:C1845112	hposlim_core	Hunched back|Round back|Gibbus deformity|Hyperkyphosis	http://purl.obolibrary.org/obo/HP_0002808	Exaggerated anterior convexity of the thoracic vertebral column.
HP:0002810	Dumbbell-shaped metaphyses	biolink:PhenotypicFeature	hp	UMLS:C3277123		Dumbbell shaped wide portion of long bone|Dumbbell shaped metaphyses|Dumbbell shaped metaphysis	http://purl.obolibrary.org/obo/HP_0002810	
HP:0002812	Coxa vara	biolink:PhenotypicFeature	hp	MSH:D060905|SNOMEDCT_US:74820003|UMLS:C0239138			http://purl.obolibrary.org/obo/HP_0002812	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	biolink:PhenotypicFeature	hp	UMLS:C4082761		Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality	http://purl.obolibrary.org/obo/HP_0002813	Any abnormality of bones of the arms or legs.
HP:0002814	Abnormality of the lower limb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:449715001|UMLS:C1096086	hposlim_core	Abnormality of the lower limb|Lower limb deformities|Abnormality of the leg	http://purl.obolibrary.org/obo/HP_0002814	An abnormality of the leg.
HP:0002815	Abnormality of the knee	biolink:PhenotypicFeature	hp	UMLS:C4025676	hposlim_core	Abnormality of the knee	http://purl.obolibrary.org/obo/HP_0002815	An abnormality of the knee joint or surrounding structures.
HP:0002816	Genu recurvatum	biolink:PhenotypicFeature	hp	MEDDRA:10018194|UMLS:C0546964	hposlim_core	Back knee|Knee hyperextension|Genu recurvata	http://purl.obolibrary.org/obo/HP_0002816	An abnormally increased extension of the knee joint, so that the knee can bend backwards.
HP:0002817	Abnormality of the upper limb	biolink:PhenotypicFeature	hp	UMLS:C4020900		Abnormality of the upper limb|Abnormality of the arm	http://purl.obolibrary.org/obo/HP_0002817	An abnormality of the arm.
HP:0002818	Abnormality of the radius	biolink:PhenotypicFeature	hp	UMLS:C4025675	hposlim_core		http://purl.obolibrary.org/obo/HP_0002818	An abnormality of the radius.
HP:0002821	Neuropathic arthropathy	biolink:PhenotypicFeature	hp	MSH:D001177|SNOMEDCT_US:359554008|SNOMEDCT_US:67536000|UMLS:C0003892		Charcot arthropathy|Charcot joint	http://purl.obolibrary.org/obo/HP_0002821	
HP:0002822	Hyperplasia of the femoral trochanters	biolink:PhenotypicFeature	hp	UMLS:C3277120		Hyperplastic femoral trochanters	http://purl.obolibrary.org/obo/HP_0002822	
HP:0002823	Abnormality of femur morphology	biolink:PhenotypicFeature	hp	UMLS:C4021750		Abnormality of the thighbone|Abnormality of the femora	http://purl.obolibrary.org/obo/HP_0002823	Any anomaly of the structure of the femur.
HP:0002825	Caudal appendage	biolink:PhenotypicFeature	hp	UMLS:C3277117	hposlim_core	Human tail|Coccygeal tail	http://purl.obolibrary.org/obo/HP_0002825	The presence of a tail-like skin appendage located adjacent to the sacrum.
HP:0002826	Halberd-shaped pelvis	biolink:PhenotypicFeature	hp	UMLS:C3277119		Halberd-shaped pelvis bone	http://purl.obolibrary.org/obo/HP_0002826	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	biolink:PhenotypicFeature	hp	MSH:D006617|SNOMEDCT_US:157265008|UMLS:C0019554		Dislocated hips|Dislocation of hip|Hip dislocation	http://purl.obolibrary.org/obo/HP_0002827	Displacement of the femur from its normal location in the hip joint.
HP:0002828	Multiple joint contractures	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19393004|SNOMEDCT_US:202264009|UMLS:C0158118			http://purl.obolibrary.org/obo/HP_0002828	
HP:0002829	Arthralgia	biolink:PhenotypicFeature	hp	MSH:D018771|SNOMEDCT_US:57676002|UMLS:C0003862		Joint pain|Joint pains|Arthralgias|Arthritic pain	http://purl.obolibrary.org/obo/HP_0002829	Joint pain.
HP:0002831	Long coccyx	biolink:PhenotypicFeature	hp	UMLS:C3277116		Long tailbone	http://purl.obolibrary.org/obo/HP_0002831	
HP:0002832	Calcific stippling	biolink:PhenotypicFeature	hp	UMLS:C1849993		Discrete calcific stippling	http://purl.obolibrary.org/obo/HP_0002832	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	biolink:PhenotypicFeature	hp	UMLS:C4021749		Lytic cystic lesions in appendicular bones	http://purl.obolibrary.org/obo/HP_0002833	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	biolink:PhenotypicFeature	hp	UMLS:C4025674		Flared metaphysis of thigh bone	http://purl.obolibrary.org/obo/HP_0002834	
HP:0002835	Aspiration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:413585005|SNOMEDCT_US:68052005|UMLS:C0700198|UMLS:C2712334		Pulmonary aspiration	http://purl.obolibrary.org/obo/HP_0002835	Inspiration of a foreign object into the airway.
HP:0002836	Bladder exstrophy	biolink:PhenotypicFeature	hp	MSH:D001746|SNOMEDCT_US:61758007|UMLS:C0005689		Ectopia vesicae	http://purl.obolibrary.org/obo/HP_0002836	Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.
HP:0002837	Recurrent bronchitis	biolink:PhenotypicFeature	hp	UMLS:C0741796		Bronchitis, recurrent	http://purl.obolibrary.org/obo/HP_0002837	An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
HP:0002839	Urinary bladder sphincter dysfunction	biolink:PhenotypicFeature	hp	UMLS:C1843663		Sphincter disturbance|Sphincter disturbances	http://purl.obolibrary.org/obo/HP_0002839	Abnormal function of a sphincter of the urinary bladder.
HP:0002840	Lymphadenitis	biolink:PhenotypicFeature	hp	MSH:D008199|SNOMEDCT_US:19471005|UMLS:C0024205		Inflammation of the lymph nodes	http://purl.obolibrary.org/obo/HP_0002840	Inflammation of a lymph node.
HP:0002841	Recurrent fungal infections	biolink:PhenotypicFeature	hp	UMLS:C1844384		Recurrent fungal infections	http://purl.obolibrary.org/obo/HP_0002841	Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
HP:0002842	Recurrent Burkholderia cepacia infections	biolink:PhenotypicFeature	hp	UMLS:C4025673			http://purl.obolibrary.org/obo/HP_0002842	Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
HP:0002843	Abnormal T cell morphology	biolink:PhenotypicFeature	hp	UMLS:C1855752		Abnormal T cells|Abnormality of T cells|Cellular immune defect|Defective cellular immunity	http://purl.obolibrary.org/obo/HP_0002843	An abnormality of T cells.
HP:0002845	obsolete Increased proportion of peripheral CD3+ T cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002845	
HP:0002846	Abnormal B cell morphology	biolink:PhenotypicFeature	hp	UMLS:C4021748		Abnormal B cells|Abnormality of B cells	http://purl.obolibrary.org/obo/HP_0002846	A structural abnormality of B cells.
HP:0002847	Impaired memory B cell generation	biolink:PhenotypicFeature	hp	UMLS:C4025672			http://purl.obolibrary.org/obo/HP_0002847	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	biolink:PhenotypicFeature	hp	UMLS:C4021747		Depressed antibody response to polysaccharide antigens|Low specific anti-polysaccharide antibody titer|Specific anti-polysaccharide antibody deficiency	http://purl.obolibrary.org/obo/HP_0002848	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
HP:0002849	Absence of lymph node germinal center	biolink:PhenotypicFeature	hp	UMLS:C1847383		Absence of lymph node germinal centre|Lymph nodes lack germinal center|Lymphoid germinal center defect	http://purl.obolibrary.org/obo/HP_0002849	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	biolink:PhenotypicFeature	hp	UMLS:C0239989		Decreased IgM|Decreased IgM level|IgM deficiency|Reduced IgM levels	http://purl.obolibrary.org/obo/HP_0002850	An abnormally decreased level of immunoglobulin M (IgM) in blood.
HP:0002851	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells	biolink:PhenotypicFeature	hp	UMLS:C1858973		Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors	http://purl.obolibrary.org/obo/HP_0002851	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	biolink:PhenotypicFeature	hp	UMLS:C1858974			http://purl.obolibrary.org/obo/HP_0002853	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	biolink:PhenotypicFeature	hp	MEDDRA:10023480|MSH:D056304|SNOMEDCT_US:299330008|UMLS:C0576093	hposlim_core	Knock knees|Genu valga|Genu valgus|Genua valga|Knee joint valgus deformity	http://purl.obolibrary.org/obo/HP_0002857	The legs angle inward, such that the knees are close together and the ankles far apart.
HP:0002858	Meningioma	biolink:PhenotypicFeature	hp	MSH:D008579|NCIT:C3230|UMLS:C0025286		Noncancerous growth of membranes covering brain	http://purl.obolibrary.org/obo/HP_0002858	The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
HP:0002859	Rhabdomyosarcoma	biolink:PhenotypicFeature	hp	MSH:D012208|NCIT:C3359|SNOMEDCT_US:302847003|SNOMEDCT_US:30924005|UMLS:C0035412			http://purl.obolibrary.org/obo/HP_0002859	
HP:0002860	Squamous cell carcinoma	biolink:PhenotypicFeature	hp	MSH:D002294|MSH:D018307|NCIT:C2929|SNOMEDCT_US:28899001|SNOMEDCT_US:402815007|UMLS:C0007137|UMLS:C0751688		Squamous cell cancer	http://purl.obolibrary.org/obo/HP_0002860	The presence of squamous cell carcinoma of the skin.
HP:0002861	Melanoma	biolink:PhenotypicFeature	hp	MSH:D008545|NCIT:C3224|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006|UMLS:C0025202		Cancer of skin pigment cells|Skin cancer (melanoma)|Malignant melanoma	http://purl.obolibrary.org/obo/HP_0002861	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	biolink:PhenotypicFeature	hp	NCIT:C2916|SNOMEDCT_US:255108000|UMLS:C0699885			http://purl.obolibrary.org/obo/HP_0002862	The presence of a carcinoma of the urinary bladder.
HP:0002863	Myelodysplasia	biolink:PhenotypicFeature	hp	MSH:D009190|SNOMEDCT_US:109995007|SNOMEDCT_US:128623006|SNOMEDCT_US:188736006|UMLS:C1851971|UMLS:C3463824		Myelodysplastic syndrome|Hypoplastic myelodysplasia	http://purl.obolibrary.org/obo/HP_0002863	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	biolink:PhenotypicFeature	hp	UMLS:C1333944		Paragangliomas, head and neck	http://purl.obolibrary.org/obo/HP_0002864	
HP:0002865	Medullary thyroid carcinoma	biolink:PhenotypicFeature	hp	MSH:C536914|NCIT:C3879|SNOMEDCT_US:128916007|SNOMEDCT_US:255032005|UMLS:C0238462		Medullary thyroid cancer	http://purl.obolibrary.org/obo/HP_0002865	The presence of a medullary carcinoma of the thyroid gland.
HP:0002866	Hypoplastic iliac wing	biolink:PhenotypicFeature	hp	UMLS:C1865027	hposlim_core	Hypoplastic iliac alae|Hypoplastic iliac wings|Small iliac wings	http://purl.obolibrary.org/obo/HP_0002866	Underdevelopment of the ilium ala.
HP:0002867	Abnormality of the ilium	biolink:PhenotypicFeature	hp	UMLS:C4021746	hposlim_core	Iliac abnormalities	http://purl.obolibrary.org/obo/HP_0002867	An abnormality of the ilium, the largest and uppermost bone of the pelvis.
HP:0002868	Narrow iliac wings	biolink:PhenotypicFeature	hp	UMLS:C1836688	hposlim_core		http://purl.obolibrary.org/obo/HP_0002868	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 wings	biolink:PhenotypicFeature	hp	UMLS:C1865841	hposlim_core	Flared iliac wing	http://purl.obolibrary.org/obo/HP_0002869	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	biolink:PhenotypicFeature	hp	MSH:D020181|SNOMEDCT_US:78275009|UMLS:C0520679		Obstructive sleep apnoea	http://purl.obolibrary.org/obo/HP_0002870	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	biolink:PhenotypicFeature	hp	MSH:D020182|UMLS:C0520680		Central apnoea	http://purl.obolibrary.org/obo/HP_0002871	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	biolink:PhenotypicFeature	hp	UMLS:C3806462		Episodic apnea induced by febrile illness or stress	http://purl.obolibrary.org/obo/HP_0002872	Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.
HP:0002875	Exertional dyspnea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60845006|UMLS:C0231807		Exertional dyspnoea	http://purl.obolibrary.org/obo/HP_0002875	
HP:0002876	Episodic tachypnea	biolink:PhenotypicFeature	hp	UMLS:C3806218		Hyperpnea, episodic	http://purl.obolibrary.org/obo/HP_0002876	Episodes of very rapid breathing.
HP:0002877	Nocturnal hypoventilation	biolink:PhenotypicFeature	hp	UMLS:C1843643		Nocturnal hypopnea|Nocturnal slow breathing|Nocturnal under breathing	http://purl.obolibrary.org/obo/HP_0002877	
HP:0002878	Respiratory failure	biolink:PhenotypicFeature	hp	MSH:D012131|SNOMEDCT_US:409622000|UMLS:C1145670		Respiratory failure	http://purl.obolibrary.org/obo/HP_0002878	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	biolink:PhenotypicFeature	hp	UMLS:C1857101			http://purl.obolibrary.org/obo/HP_0002879	Abnormally increased variability of the size of the vertebral bodies.
HP:0002880	obsolete Respiratory difficulties	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002880	
HP:0002882	Sudden episodic apnea	biolink:PhenotypicFeature	hp	UMLS:C4025671			http://purl.obolibrary.org/obo/HP_0002882	Recurrent bouts of sudden, severe apnea that may be life-threatening.
HP:0002883	Hyperventilation	biolink:PhenotypicFeature	hp	MSH:D006985|SNOMEDCT_US:68978004|UMLS:C0020578		Rapid breathing	http://purl.obolibrary.org/obo/HP_0002883	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	biolink:PhenotypicFeature	hp	MSH:D018197|NCIT:C3728|SNOMEDCT_US:109843000|SNOMEDCT_US:45024009|UMLS:C0206624			http://purl.obolibrary.org/obo/HP_0002884	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	biolink:PhenotypicFeature	hp	MSH:D008527|NCIT:C3222|SNOMEDCT_US:443333004|SNOMEDCT_US:83217000|UMLS:C0025149			http://purl.obolibrary.org/obo/HP_0002885	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253030004|UMLS:C0474819		Glomus vagale tumor|Vagal nerve tumors|Glomus vagale paraganglioma	http://purl.obolibrary.org/obo/HP_0002886	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	biolink:PhenotypicFeature	hp	MSH:D004806|NCIT:C3017|SNOMEDCT_US:443643007|SNOMEDCT_US:57706008|UMLS:C0014474			http://purl.obolibrary.org/obo/HP_0002888	The presence of an ependymoma of the central nervous system.
HP:0002890	Thyroid carcinoma	biolink:PhenotypicFeature	hp	MSH:D013964|NCIT:C2916|UMLS:C0549473			http://purl.obolibrary.org/obo/HP_0002890	The presence of a carcinoma of the thyroid gland.
HP:0002891	Uterine leiomyosarcoma	biolink:PhenotypicFeature	hp	NCIT:C3158|SNOMEDCT_US:447389009|UMLS:C0280631			http://purl.obolibrary.org/obo/HP_0002891	The presence of a leiomyosarcoma of the uterus.
HP:0002893	Pituitary adenoma	biolink:PhenotypicFeature	hp	ICD-O:M8272/0|MSH:D010911|NCIT:C2855|SNOMEDCT_US:128664001|SNOMEDCT_US:254956000|UMLS:C0032000		Noncancerous tumor in pituitary gland	http://purl.obolibrary.org/obo/HP_0002893	A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
HP:0002894	Neoplasm of the pancreas	biolink:PhenotypicFeature	hp	MSH:D010190|NCIT:C3262|SNOMEDCT_US:126859007|SNOMEDCT_US:363418001|UMLS:C0030297|UMLS:C0346647|UMLS:C1842408		Cancer of the pancreas|Pancreatic cancer|Pancreatic tumor|increased risk of pancreatic cancer|Neoplasia of the pancreas	http://purl.obolibrary.org/obo/HP_0002894	A tumor (abnormal growth of tissue) of the pancreas.
HP:0002895	Papillary thyroid carcinoma	biolink:PhenotypicFeature	hp	MSH:C536915|NCIT:C2853|SNOMEDCT_US:255029007|UMLS:C0238463		Papillary carcinoma of thyroid|Thyroid papillary carcinoma	http://purl.obolibrary.org/obo/HP_0002895	The presence of a papillary adenocarcinoma of the thyroid gland.
HP:0002896	Neoplasm of the liver	biolink:PhenotypicFeature	hp	MSH:D008113|NCIT:C3262|SNOMEDCT_US:126851005|SNOMEDCT_US:93870000|UMLS:C0023903|UMLS:C0345904		Liver cancer|Liver tumor	http://purl.obolibrary.org/obo/HP_0002896	A tumor (abnormal growth of tissue) of the liver.
HP:0002897	Parathyroid adenoma	biolink:PhenotypicFeature	hp	ICD-10:D35.1|MSH:D010282|NCIT:C2855|SNOMEDCT_US:128474007|UMLS:C0262587		Parathyroid adenomas	http://purl.obolibrary.org/obo/HP_0002897	A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
HP:0002898	Embryonal neoplasm	biolink:PhenotypicFeature	hp	MSH:D009373|UMLS:C0027654		Embryonal neoplasia|Embryonal tumors	http://purl.obolibrary.org/obo/HP_0002898	
HP:0002900	Hypokalemia	biolink:PhenotypicFeature	hp	MSH:D007008|SNOMEDCT_US:166690008|SNOMEDCT_US:43339004|UMLS:C0020621		Low blood potassium levels	http://purl.obolibrary.org/obo/HP_0002900	An abnormally decreased potassium concentration in the blood.
HP:0002901	Hypocalcemia	biolink:PhenotypicFeature	hp	MSH:D006996|SNOMEDCT_US:5291005|UMLS:C0020598		Low blood calcium levels|Hypocalcaemia	http://purl.obolibrary.org/obo/HP_0002901	An abnormally decreased calcium concentration in the blood.
HP:0002902	Hyponatremia	biolink:PhenotypicFeature	hp	MSH:D007010|SNOMEDCT_US:89627008|UMLS:C0020625		Low blood sodium levels	http://purl.obolibrary.org/obo/HP_0002902	An abnormally decreased sodium concentration in the blood.
HP:0002904	Hyperbilirubinemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26165005|UMLS:C0311468		High blood bilirubin levels	http://purl.obolibrary.org/obo/HP_0002904	An increased amount of bilirubin in the blood.
HP:0002905	Hyperphosphatemia	biolink:PhenotypicFeature	hp	MSH:D054559|SNOMEDCT_US:20165001|UMLS:C0085681|UMLS:C0553706		High blood phosphate levels	http://purl.obolibrary.org/obo/HP_0002905	An abnormally increased phosphate concentration in the blood.
HP:0002907	Microscopic hematuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197940006|UMLS:C0239937		Small amount of blood in urine|Microhematuria|Occult hematuria	http://purl.obolibrary.org/obo/HP_0002907	Microscopic hematuria detected by dipstick or microscopic examination of the urine.
HP:0002908	Conjugated hyperbilirubinemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9326001|UMLS:C0268307		Direct hyperbilirubinemia	http://purl.obolibrary.org/obo/HP_0002908	
HP:0002909	Generalized aminoaciduria	biolink:PhenotypicFeature	hp	UMLS:C1847868		Generalised aminoaciduria|Generalized nonspecific aminoaciduria	http://purl.obolibrary.org/obo/HP_0002909	An increased concentration of all types of amino acid in the urine.
HP:0002910	Elevated hepatic transaminase	biolink:PhenotypicFeature	hp	MSH:D008107|SNOMEDCT_US:166603001|SNOMEDCT_US:166643006|SNOMEDCT_US:75183008|UMLS:C0086565|UMLS:C0151766|UMLS:C0235996|UMLS:C0438237|UMLS:C0438717|UMLS:C0877359|UMLS:C1842003|UMLS:C1848701		High liver enzymes|Abnormal liver enzymes|Abnormal liver function|Abnormal liver function tests|Elevated liver enzymes|Elevated serum transaminases|Elevated transaminases|Increased liver enzymes|Increased liver function tests|Increased transaminases|Raised liver enzymes|Subclinical abnormal liver function tests|Elevated liver function tests	http://purl.obolibrary.org/obo/HP_0002910	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	biolink:PhenotypicFeature	hp	MSH:C537358|SNOMEDCT_US:42393006|UMLS:C0268583		Elevated circulating methylmalonic acid concentration	http://purl.obolibrary.org/obo/HP_0002912	Increased concentration of methylmalonic acid in the blood.
HP:0002913	Myoglobinuria	biolink:PhenotypicFeature	hp	MSH:D009212|SNOMEDCT_US:48165008|UMLS:C0027080			http://purl.obolibrary.org/obo/HP_0002913	Presence of myoglobin in the urine.
HP:0002914	Hyperchloriduria	biolink:PhenotypicFeature	hp	UMLS:C1846352		Increased urinary chloride	http://purl.obolibrary.org/obo/HP_0002914	An increased concentration of chloride in the urine.
HP:0002916	Abnormality of chromosome segregation	biolink:PhenotypicFeature	hp	UMLS:C4025670			http://purl.obolibrary.org/obo/HP_0002916	An abnormality of chromosome segregation.
HP:0002917	Hypomagnesemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:190855004|UMLS:C0151723		Low blood Mg levels|Low blood magnesium levels	http://purl.obolibrary.org/obo/HP_0002917	An abnormally decreased magnesium concentration in the blood.
HP:0002918	Hypermagnesemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66978005|UMLS:C0151714		High blood Mg levels|High blood magnesium levels	http://purl.obolibrary.org/obo/HP_0002918	An abnormally increased magnesium concentration in the blood.
HP:0002919	Ketonuria	biolink:PhenotypicFeature	hp	MSH:D007662|SNOMEDCT_US:274783007|SNOMEDCT_US:36815008|UMLS:C0162275		Ketonaciduria|Ketone bodies in urine|Acetonuria|Ketoaciduria	http://purl.obolibrary.org/obo/HP_0002919	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	biolink:PhenotypicFeature	hp	UMLS:C4025669			http://purl.obolibrary.org/obo/HP_0002920	An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
HP:0002921	Abnormality of the cerebrospinal fluid	biolink:PhenotypicFeature	hp	UMLS:C0151583		Abnormal CSF findings|Abnormality of the CSF	http://purl.obolibrary.org/obo/HP_0002921	An abnormality of the cerebrospinal fluid (CSF).
HP:0002922	Increased CSF protein	biolink:PhenotypicFeature	hp	UMLS:C1806780		Cerebrospinal fluid protein increased|Cerebrospinal fluid with increased protein|Elevated cerebrospinal fluid protein|Elevated csf protein|Hyperproteinorrhachia|Increased protein in csf|Spinal fluid protein elevated	http://purl.obolibrary.org/obo/HP_0002922	Increased concentration of protein in the cerebrospinal fluid.
HP:0002923	Rheumatoid factor positive	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165839004|UMLS:C0151379			http://purl.obolibrary.org/obo/HP_0002923	The presence in the serum of an autoantibody directed against the Fc portion of IgG.
HP:0002924	obsolete Decreased circulating aldosterone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0002924	
HP:0002925	Increased thyroid-stimulating hormone level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:309080005|UMLS:C0586553		High TSH|TSH excess|Elevated thyroid stimulating hormone|Elevated thyroid stimulating hormone levels|Increased serum thyroid-stimulating hormone|Increased thyroid-stimulating hormone|Increased thyrotropin level|Thyroid-stimulating hormone excess	http://purl.obolibrary.org/obo/HP_0002925	Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
HP:0002926	Abnormality of thyroid physiology	biolink:PhenotypicFeature	hp	UMLS:C0857576		Abnormal thyroid function	http://purl.obolibrary.org/obo/HP_0002926	An abnormal functionality of the thyroid gland.
HP:0002927	Histidinuria	biolink:PhenotypicFeature	hp	MSH:C538321|SNOMEDCT_US:78311009|UMLS:C0268642		High urine histidine levels|Elevated histidine in urine	http://purl.obolibrary.org/obo/HP_0002927	An increased concentration of histidine in the urine.
HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	biolink:PhenotypicFeature	hp	UMLS:C1839888		Decreased activity of the PDH complex|Pyruvate dehydrogenase complex deficiency	http://purl.obolibrary.org/obo/HP_0002928	
HP:0002929	Leydig cell insensitivity to gonadotropin	biolink:PhenotypicFeature	hp	UMLS:C4025668			http://purl.obolibrary.org/obo/HP_0002929	
HP:0002930	Impaired sensitivity to thyroid hormone	biolink:PhenotypicFeature	hp	MSH:D018382|SNOMEDCT_US:111567006|SNOMEDCT_US:237559000|SNOMEDCT_US:237560005|SNOMEDCT_US:50375007|UMLS:C2940786		Elevated serum levels of free thyroid hormone with nonsuppressed TSH|End-organ unresponsiveness to thyroid hormone|Resistance to thyroid hormone|Thyroid hormone receptor defect|Thyroid hormone resistance	http://purl.obolibrary.org/obo/HP_0002930	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124161002|UMLS:C1291266			http://purl.obolibrary.org/obo/HP_0002932	A reduction in aldehyde oxidase level.
HP:0002933	Ventral hernia	biolink:PhenotypicFeature	hp	MSH:D006555|SNOMEDCT_US:414396006|UMLS:C0019326			http://purl.obolibrary.org/obo/HP_0002933	Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.
HP:0002936	Distal sensory impairment	biolink:PhenotypicFeature	hp	UMLS:C1847584		Decreased sensation in extremities|Decreased distal sensation|Distal sensation loss|Distal sensory impairment in lower limbs|Distal sensory impairment of the lower extremities|Distal sensory loss|Distal sensory loss, upper and lower limbs|Loss of distal sensation	http://purl.obolibrary.org/obo/HP_0002936	An abnormal reduction in sensation in the distal portions of the extremities.
HP:0002937	Hemivertebrae	biolink:PhenotypicFeature	hp	SNOMEDCT_US:68359008|UMLS:C0265677	hposlim_core	Missing part of vertebrae|Hemi-vertebrae|Hemivertebra	http://purl.obolibrary.org/obo/HP_0002937	Absence of one half of the vertebral body.
HP:0002938	Lumbar hyperlordosis	biolink:PhenotypicFeature	hp	UMLS:C1184923		Excessive inward curvature of lower spine|Exaggerated lumbar lordosis|Increased lumbar lordosis|Lumbar lordosis|Prominent lumbar lordosis	http://purl.obolibrary.org/obo/HP_0002938	An abnormal accentuation of the inward curvature of the spine in the lumbar region.
HP:0002942	Thoracic kyphosis	biolink:PhenotypicFeature	hp	UMLS:C1184919		Accentuated thoracic kyphosis|Exaggerated thoracic kyphosis	http://purl.obolibrary.org/obo/HP_0002942	Over curvature of the thoracic region, leading to a round back or if sever to a hump.
HP:0002943	Thoracic scoliosis	biolink:PhenotypicFeature	hp	UMLS:C1857790			http://purl.obolibrary.org/obo/HP_0002943	
HP:0002944	Thoracolumbar scoliosis	biolink:PhenotypicFeature	hp	UMLS:C0749379		Scoliosis, thoracolumbar	http://purl.obolibrary.org/obo/HP_0002944	
HP:0002945	Intervertebral space narrowing	biolink:PhenotypicFeature	hp	SNOMEDCT_US:11301007|UMLS:C0263870		Narrow intervertebral disc spaces|Narrow intervertebral spaces	http://purl.obolibrary.org/obo/HP_0002945	Decreased height of the intervertebral disk.
HP:0002946	Supernumerary vertebrae	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87294007|UMLS:C0265681			http://purl.obolibrary.org/obo/HP_0002946	
HP:0002947	Cervical kyphosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298393001|UMLS:C0575170		Rounded neck	http://purl.obolibrary.org/obo/HP_0002947	Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
HP:0002948	Vertebral fusion	biolink:PhenotypicFeature	hp	UMLS:C1835763|UMLS:C1849073|UMLS:C3278509	hposlim_core	Spinal fusion|Fused vertebrae|Fusion of vertebral bodies|Vertebral body fusion	http://purl.obolibrary.org/obo/HP_0002948	A developmental defect leading to the union of two adjacent vertebrae.
HP:0002949	Fused cervical vertebrae	biolink:PhenotypicFeature	hp	UMLS:C3887527		Fused neck|Cervical spine fusion|Cervical vertebral fusion|Fusion of cervical vertebrae	http://purl.obolibrary.org/obo/HP_0002949	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	biolink:PhenotypicFeature	hp	UMLS:C4025667			http://purl.obolibrary.org/obo/HP_0002951	Congenital absence of a part of the vermis of cerebellum.
HP:0002953	Vertebral compression fractures	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42942008|SNOMEDCT_US:84138006|UMLS:C0262431|UMLS:C0410550		Compression fracture|Fractures of vertebral bodies|Vertebral body compression|Vertebral collapse|Vertebral compression|Vertebral compression or collapse	http://purl.obolibrary.org/obo/HP_0002953	
HP:0002955	Granulomatosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:443138004|SNOMEDCT_US:44328006|UMLS:C0521173			http://purl.obolibrary.org/obo/HP_0002955	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	biolink:PhenotypicFeature	hp	UMLS:C1844666		Immune dysregulation|Unregulated immune response	http://purl.obolibrary.org/obo/HP_0002958	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	biolink:PhenotypicFeature	hp	UMLS:C1842528		Impaired B-lymphocyte isotype switching	http://purl.obolibrary.org/obo/HP_0002959	An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.
HP:0002960	Autoimmunity	biolink:PhenotypicFeature	hp	MSH:D001327|SNOMEDCT_US:85828009|UMLS:C0004364		Autoimmune disease|Autoimmune disorder|Autoimmunity|Autoimmune condition	http://purl.obolibrary.org/obo/HP_0002960	The occurrence of an immune reaction against the organism's own cells or tissues.
HP:0002961	Dysgammaglobulinemia	biolink:PhenotypicFeature	hp	MSH:D004406|SNOMEDCT_US:123782009|UMLS:C0013374			http://purl.obolibrary.org/obo/HP_0002961	Selective deficiency of one or more, but not all, classes of immunoglobulins.
HP:0002963	Abnormal delayed hypersensitivity skin test	biolink:PhenotypicFeature	hp	UMLS:C1833172			http://purl.obolibrary.org/obo/HP_0002963	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	biolink:PhenotypicFeature	hp	UMLS:C1855781		Absence of delayed hypersensitivity skin test|Lack of delayed skin hypersensitivity reaction	http://purl.obolibrary.org/obo/HP_0002965	Inability to react to a delayed hypersensitivity skin test.
HP:0002967	Cubitus valgus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:54583007|UMLS:C0158465	hposlim_core	Outward turned elbows	http://purl.obolibrary.org/obo/HP_0002967	Abnormal positioning in which the elbows are turned out.
HP:0002970	Genu varum	biolink:PhenotypicFeature	hp	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755	hposlim_core	Outward bow-leggedness|Outward bowing at knees|Genu vara|Genua vara	http://purl.obolibrary.org/obo/HP_0002970	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	biolink:PhenotypicFeature	hp	UMLS:C1833173			http://purl.obolibrary.org/obo/HP_0002971	Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.
HP:0002972	Reduced delayed hypersensitivity	biolink:PhenotypicFeature	hp	UMLS:C1843386		Decreased reactivity to skin test antigens|Deficiency of delayed skin hypersensitivity|Impaired delayed hypersensitivity	http://purl.obolibrary.org/obo/HP_0002972	Decreased ability to react to a delayed hypersensitivity skin test.
HP:0002973	Abnormality of the forearm	biolink:PhenotypicFeature	hp	UMLS:C4025666	hposlim_core	Abnormality of the forearm	http://purl.obolibrary.org/obo/HP_0002973	An abnormality of the lower arm.
HP:0002974	Radioulnar synostosis	biolink:PhenotypicFeature	hp	MEDDRA:10037798|MSH:C562408|SNOMEDCT_US:33313004|UMLS:C0158761	hposlim_core	Fused forearm bones	http://purl.obolibrary.org/obo/HP_0002974	An abnormal osseous union (fusion) between the radius and the ulna.
HP:0002977	Aplasia/Hypoplasia involving the central nervous system	biolink:PhenotypicFeature	hp	UMLS:C4025665		Aplasia/Hypoplasia involving the CNS|Absent/underdeveloped central nervous system tissue	http://purl.obolibrary.org/obo/HP_0002977	Absence or underdevelopment of tissue in the central nervous system.
HP:0002979	Bowing of the legs	biolink:PhenotypicFeature	hp	MSH:D056305|SNOMEDCT_US:299331007|UMLS:C0544755		Bowed legs|Bowed lower limbs|Bow legs|Bow-leggedness	http://purl.obolibrary.org/obo/HP_0002979	A bending or abnormal curvature affecting a long bone of the leg.
HP:0002980	Femoral bowing	biolink:PhenotypicFeature	hp	UMLS:C1859461	hposlim_core	Bowed thighbone|Bowed femur|Bowed femura|Bowed femurs	http://purl.obolibrary.org/obo/HP_0002980	Bowing (abnormal curvature) of the femur.
HP:0002981	Abnormality of the calf	biolink:PhenotypicFeature	hp	UMLS:C4021832		Abnormality of the calf	http://purl.obolibrary.org/obo/HP_0002981	An abnormality of the calf, i.e. of the posterior part of the lower leg.
HP:0002982	Tibial bowing	biolink:PhenotypicFeature	hp	UMLS:C1837081	hposlim_core	Bowed shankbone|Bowed shinbone|Bowed tibia|Bowing of the tibia	http://purl.obolibrary.org/obo/HP_0002982	A bending or abnormal curvature of the tibia.
HP:0002983	Micromelia	biolink:PhenotypicFeature	hp	MEDDRA:10027546|SNOMEDCT_US:74370006|UMLS:C0025995	hposlim_core	Smaller or shorter than typical limbs	http://purl.obolibrary.org/obo/HP_0002983	The presence of abnormally small extremities.
HP:0002984	Hypoplasia of the radius	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205170001|SNOMEDCT_US:93288001|UMLS:C0685381|UMLS:C1840087	hposlim_core	Underdeveloped outer large forearm bone|Hypoplastic radii|Hypoplastic radius|Radial hypoplasia|Short radii|Short radius|Shortening of radius|Radial ray hypoplasia	http://purl.obolibrary.org/obo/HP_0002984	Underdevelopment of the radius.
HP:0002986	Radial bowing	biolink:PhenotypicFeature	hp	UMLS:C1859399	hposlim_core	Bowing of outer large bone of the forearm|Bowed radii|Bowed radius|Bowing of radius bone of the forearm	http://purl.obolibrary.org/obo/HP_0002986	A bending or abnormal curvature of the radius.
HP:0002987	Elbow flexion contracture	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202271004|UMLS:C0409338		Contractures of elbows|Elbow contracture|Elbow contractures|Contracture of elbow joint|Contractures of the elbows|Elbow flexion contractures|Elbow flexion deformity|Fixed flexion at the elbow joint	http://purl.obolibrary.org/obo/HP_0002987	A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
HP:0002990	Fibular aplasia	biolink:PhenotypicFeature	hp	MEDDRA:10054882|UMLS:C1836186	hposlim_core	Absent calf bone|Absent fibulae|Absent-hypoplastic fibulae	http://purl.obolibrary.org/obo/HP_0002990	Absence of the fibula.
HP:0002991	Abnormality of fibula morphology	biolink:PhenotypicFeature	hp	UMLS:C4025664	hposlim_core	Abnormality of the calf bone	http://purl.obolibrary.org/obo/HP_0002991	An anomaly of the calf bone (fibula), one of the two bones of the calf.
HP:0002992	Abnormality of tibia morphology	biolink:PhenotypicFeature	hp	UMLS:C4025663		Abnormality of the shankbone|Abnormality of the shinbone	http://purl.obolibrary.org/obo/HP_0002992	Abnormality of the tibia (shinbone).
HP:0002996	Limited elbow movement	biolink:PhenotypicFeature	hp	UMLS:C1849955		Decreased elbow mobility|Limited elbow mobility|Limited elbow movement|Restricted elbow motion	http://purl.obolibrary.org/obo/HP_0002996	
HP:0002997	Abnormality of the ulna	biolink:PhenotypicFeature	hp	UMLS:C4025662	hposlim_core		http://purl.obolibrary.org/obo/HP_0002997	An abnormality of the ulna bone of the forearm.
HP:0002999	Patellar dislocation	biolink:PhenotypicFeature	hp	MSH:D031222|SNOMEDCT_US:263029007|UMLS:C1135812		Dislocated kneecap|Dislocated patellae|Dislocation of patella	http://purl.obolibrary.org/obo/HP_0002999	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	biolink:PhenotypicFeature	hp	MSH:D005925|SNOMEDCT_US:127030001|SNOMEDCT_US:32037004|UMLS:C0017671		Glomus jugular tumour|Glomus jugulare tumor|Glomus jugulare tumors	http://purl.obolibrary.org/obo/HP_0003001	
HP:0003002	Breast carcinoma	biolink:PhenotypicFeature	hp	MSH:D001943|NCIT:C2916|SNOMEDCT_US:254838004|UMLS:C0678222		Breast cancer	http://purl.obolibrary.org/obo/HP_0003002	The presence of a carcinoma of the breast.
HP:0003003	Colon cancer	biolink:PhenotypicFeature	hp	MSH:D003110|SNOMEDCT_US:363406005|UMLS:C0007102		Colon cancer	http://purl.obolibrary.org/obo/HP_0003003	
HP:0003005	Ganglioneuroma	biolink:PhenotypicFeature	hp	MSH:D005729|SNOMEDCT_US:116371000119107|SNOMEDCT_US:128919000|SNOMEDCT_US:53801007|UMLS:C0017075			http://purl.obolibrary.org/obo/HP_0003005	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	biolink:PhenotypicFeature	hp	MSH:D009447|NCIT:C3270|SNOMEDCT_US:432328008|SNOMEDCT_US:87364003|UMLS:C0027819		Cancer of early nerve cells	http://purl.obolibrary.org/obo/HP_0003006	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	biolink:PhenotypicFeature	hp	UMLS:C4025661			http://purl.obolibrary.org/obo/HP_0003009	
HP:0003010	Prolonged bleeding time	biolink:PhenotypicFeature	hp	UMLS:C0151529		Prolonged bleeding time|Increased bleeding time	http://purl.obolibrary.org/obo/HP_0003010	Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
HP:0003011	Abnormality of the musculature	biolink:PhenotypicFeature	hp	UMLS:C4021745		Muscular abnormality	http://purl.obolibrary.org/obo/HP_0003011	Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
HP:0003013	Bulging epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1833329		Bulging end part of bone	http://purl.obolibrary.org/obo/HP_0003013	A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).
HP:0003015	Flared metaphysis	biolink:PhenotypicFeature	hp	UMLS:C1850135		Flared wide portion of long bone|Flared, widened metaphyses|Metaphyseal flaring|Metaphyseal flaring of long bones|Metaphyseal splaying|Metaphyses flared|Splayed metaphyses|marked metaphyseal flaring of long bones	http://purl.obolibrary.org/obo/HP_0003015	The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
HP:0003016	Metaphyseal widening	biolink:PhenotypicFeature	hp	UMLS:C1849039		Broad wide portion of long bone|Wide metaphyses|Widened long bone metaphyses|Widened metaphyses	http://purl.obolibrary.org/obo/HP_0003016	Abnormal widening of the metaphyseal regions of long bones.
HP:0003019	Abnormality of the wrist	biolink:PhenotypicFeature	hp	UMLS:C4021744	hposlim_core	Abnormalities of the wrists|Abnormality of the wrist	http://purl.obolibrary.org/obo/HP_0003019	Abnormality of the wrist, the structure connecting the hand and the forearm.
HP:0003020	Enlargement of the wrists	biolink:PhenotypicFeature	hp	UMLS:C1838663		Enlargement of the wrists	http://purl.obolibrary.org/obo/HP_0003020	
HP:0003021	Metaphyseal cupping	biolink:PhenotypicFeature	hp	UMLS:C1837082			http://purl.obolibrary.org/obo/HP_0003021	Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
HP:0003022	Hypoplasia of the ulna	biolink:PhenotypicFeature	hp	MSH:C538069|UMLS:C1860614|UMLS:C1862132	hposlim_core	Underdeveloped inner large forearm bone|Hypoplastic ulna|Short ulna|Short ulnae|Ulnar hypoplasia|Underdeveloped ulna	http://purl.obolibrary.org/obo/HP_0003022	Underdevelopment of the ulna.
HP:0003023	Bowing of limbs due to multiple fractures	biolink:PhenotypicFeature	hp	UMLS:C1850178		Bowed limbs due to multiple fractures	http://purl.obolibrary.org/obo/HP_0003023	Curvature of the shafts of the long bones due to multiple fractures.
HP:0003025	Metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C1838662		Irregular wide portion of a long bone|Frayed, irregular metaphyses|Frayed, irregular, metaphyses|Irregular metaphyses|Metaphyseal fraying|Metaphyseal irregularities	http://purl.obolibrary.org/obo/HP_0003025	Irregularity of the normally smooth surface of the metaphyses.
HP:0003026	Short long bone	biolink:PhenotypicFeature	hp	UMLS:C1854912		Long bone shortening|Short long bone|Short tubular bones|shortened long tubular bones	http://purl.obolibrary.org/obo/HP_0003026	One or more abnormally short long bone.
HP:0003027	Mesomelia	biolink:PhenotypicFeature	hp	UMLS:C0549306		Disproportionately short middle portion of limb|Mesomelic limb shortening|Mesomelic shortening of limbs|Symmetric mesomelic limb shortness	http://purl.obolibrary.org/obo/HP_0003027	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 ankles	biolink:PhenotypicFeature	hp	UMLS:C4025660	hposlim_core	Abnormality of the ankles	http://purl.obolibrary.org/obo/HP_0003028	
HP:0003029	Enlargement of the ankles	biolink:PhenotypicFeature	hp	UMLS:C1838664		Enlargement of the ankles	http://purl.obolibrary.org/obo/HP_0003029	
HP:0003031	Ulnar bowing	biolink:PhenotypicFeature	hp	UMLS:C1865847	hposlim_core	Curving of inner forearm bone|Bowed ulna|Curved ulna	http://purl.obolibrary.org/obo/HP_0003031	Bending of the diaphysis (shaft) of the ulna.
HP:0003034	Diaphyseal sclerosis	biolink:PhenotypicFeature	hp	MSH:D003966|SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|UMLS:C0011989		Increased bone density in shaft of long bone|Craniodiaphyseal osteosclerosis|Diaphyseal osteosclerosis	http://purl.obolibrary.org/obo/HP_0003034	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	biolink:PhenotypicFeature	hp	UMLS:C1859111	hposlim_core	Enlarged joints|Prominent joints	http://purl.obolibrary.org/obo/HP_0003037	Increase in size of one or more joints.
HP:0003038	Fibular hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1832119	hposlim_core	Short calf bone|Hypoplastic fibula|Short fibula|Short fibulae	http://purl.obolibrary.org/obo/HP_0003038	Underdevelopment of the fibula.
HP:0003040	Arthropathy	biolink:PhenotypicFeature	hp	MSH:D007592|SNOMEDCT_US:399269003|UMLS:C0022408		Disease of the joints	http://purl.obolibrary.org/obo/HP_0003040	
HP:0003041	Humeroradial synostosis	biolink:PhenotypicFeature	hp	MSH:C535284|SNOMEDCT_US:205329008|UMLS:C1863360|UMLS:C2930865		Fusion of upper and lower arm bones|Humeral radial synostosis|Humeral-radial synostosis|Radiohumeral synostosis of elbow|Synostosis of radius and humerus	http://purl.obolibrary.org/obo/HP_0003041	An abnormal osseous union (fusion) between the radius and the humerus.
HP:0003042	Elbow dislocation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:125617002|SNOMEDCT_US:417558002|UMLS:C1403299|UMLS:C1403321|UMLS:C2720437		Dislocations of the elbows|Elbow dislocation|Elbow dislocations|Radiocapitellar dislocation|Radiohumeral dislocation|Ulnohumeral dislocation	http://purl.obolibrary.org/obo/HP_0003042	Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
HP:0003043	Abnormal shoulder morphology	biolink:PhenotypicFeature	hp	UMLS:C4025659	hposlim_core	Abnormality of the shoulder	http://purl.obolibrary.org/obo/HP_0003043	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202265005|UMLS:C0409336			http://purl.obolibrary.org/obo/HP_0003044	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	biolink:PhenotypicFeature	hp	UMLS:C4021743	hposlim_core	Abnormal kneecap|Abnormality of the patella|Patellar abnormality	http://purl.obolibrary.org/obo/HP_0003045	Abnormality of the patella (knee cap).
HP:0003048	Radial head subluxation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:417109008|SNOMEDCT_US:95854004|UMLS:C0149977		Radial subluxation|Radial-head subluxation	http://purl.obolibrary.org/obo/HP_0003048	Partial dislocation of the head of the radius.
HP:0003049	Ulnar deviation of the wrist	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43689004|UMLS:C0231678		Ulnar deviation of wrists	http://purl.obolibrary.org/obo/HP_0003049	
HP:0003051	Enlarged metaphyses	biolink:PhenotypicFeature	hp	UMLS:C1855544		Enlarged wide portion of a long bone	http://purl.obolibrary.org/obo/HP_0003051	Abnormal increase in size of one or more metaphyses.
HP:0003053	Epiphyseal deformities of tubular bones	biolink:PhenotypicFeature	hp	UMLS:C1854786			http://purl.obolibrary.org/obo/HP_0003053	
HP:0003057	Tetraamelia	biolink:PhenotypicFeature	hp	MSH:C536498|SNOMEDCT_US:702313004|UMLS:C2931216		Tetra-amelia	http://purl.obolibrary.org/obo/HP_0003057	Amelia of all four limbs.
HP:0003059	Abnormality of the radioulnar joints	biolink:PhenotypicFeature	hp	UMLS:C4025658			http://purl.obolibrary.org/obo/HP_0003059	
HP:0003063	Abnormality of the humerus	biolink:PhenotypicFeature	hp	UMLS:C4021742		Abnormality of the humeri	http://purl.obolibrary.org/obo/HP_0003063	An abnormality of the humerus (i.e., upper arm bone).
HP:0003065	Patellar hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1840068		Small kneecap|Underdeveloped kneecap|Hypoplastic patellae|Small patella|Small patellae	http://purl.obolibrary.org/obo/HP_0003065	Underdevelopment of the patella.
HP:0003066	Limited knee extension	biolink:PhenotypicFeature	hp	UMLS:C1844690		Limited knee extension	http://purl.obolibrary.org/obo/HP_0003066	Reduced ability to extend (straighten) the knee joint.
HP:0003067	Madelung deformity	biolink:PhenotypicFeature	hp	MSH:C562398|SNOMEDCT_US:4530000|UMLS:C0152441	hposlim_core	Madelung wrist deformity	http://purl.obolibrary.org/obo/HP_0003067	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	biolink:PhenotypicFeature	hp	UMLS:C1851419			http://purl.obolibrary.org/obo/HP_0003068	
HP:0003070	Elbow ankylosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202307002|UMLS:C0409477			http://purl.obolibrary.org/obo/HP_0003070	
HP:0003071	Flattened epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1857527		Flat end part of bone|Flat epiphyses	http://purl.obolibrary.org/obo/HP_0003071	Abnormal flatness (decreased height) of epiphyses.
HP:0003072	Hypercalcemia	biolink:PhenotypicFeature	hp	MSH:D006934|SNOMEDCT_US:166702002|SNOMEDCT_US:66931009|UMLS:C0020437		High blood calcium levels|Increased calcium in blood|Hypercalcaemia	http://purl.obolibrary.org/obo/HP_0003072	An abnormally increased calcium concentration in the blood.
HP:0003073	Hypoalbuminemia	biolink:PhenotypicFeature	hp	MSH:D034141|SNOMEDCT_US:119247004|UMLS:C0239981		Low albumin|Low blood albumin|Hypoalbuminaemia	http://purl.obolibrary.org/obo/HP_0003073	Reduction in the concentration of albumin in the blood.
HP:0003074	Hyperglycemia	biolink:PhenotypicFeature	hp	MSH:D006943|SNOMEDCT_US:237598005|SNOMEDCT_US:80394007|UMLS:C0020456		High blood sugar|High blood glucose	http://purl.obolibrary.org/obo/HP_0003074	An increased concentration of glucose in the blood.
HP:0003075	Hypoproteinemia	biolink:PhenotypicFeature	hp	MSH:D007019|SNOMEDCT_US:8900005|UMLS:C0020639		Decreased protein levels in blood	http://purl.obolibrary.org/obo/HP_0003075	A decreased concentration of protein in the blood.
HP:0003076	Glycosuria	biolink:PhenotypicFeature	hp	MSH:D006029|SNOMEDCT_US:45154002|UMLS:C0017979		Glucose in urine|Glucosuria	http://purl.obolibrary.org/obo/HP_0003076	An increased concentration of glucose in the urine.
HP:0003077	Hyperlipidemia	biolink:PhenotypicFeature	hp	MSH:D006949|SNOMEDCT_US:55822004|UMLS:C0020473		Elevated lipids in blood	http://purl.obolibrary.org/obo/HP_0003077	An elevated lipid concentration in the blood.
HP:0003079	Defective DNA repair after ultraviolet radiation damage	biolink:PhenotypicFeature	hp	UMLS:C1968564			http://purl.obolibrary.org/obo/HP_0003079	
HP:0003080	Hydroxyprolinuria	biolink:PhenotypicFeature	hp	UMLS:C0948585		Elevated urinary hydroxyproline	http://purl.obolibrary.org/obo/HP_0003080	An increased concentration of 4-hydroxy-L-proline in the urine.
HP:0003081	Increased urinary potassium	biolink:PhenotypicFeature	hp	UMLS:C1846351		Increased urinary K|Increased urinary potassium|Hyperkaliuresis	http://purl.obolibrary.org/obo/HP_0003081	An increased concentration of potassium(1+) in the urine.
HP:0003083	Dislocated radial head	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9634000|UMLS:C0265563		Congenital radial head dislocation|Dislocated radius|Dislocation of radial head|Dislocation of the radial head|Radial dislocation|Radial head dislocation|Radial head dislocation/subluxation|Dislocated radial heads	http://purl.obolibrary.org/obo/HP_0003083	A dislocation of the head of the radius from its socket in the elbow joint.
HP:0003084	Fractures of the long bones	biolink:PhenotypicFeature	hp	UMLS:C0240231		Increased long bone fracture rate	http://purl.obolibrary.org/obo/HP_0003084	An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).
HP:0003085	Long fibula	biolink:PhenotypicFeature	hp	UMLS:C1848109	hposlim_core	Long calf bone|Long fibula|Disproportionately long fibula	http://purl.obolibrary.org/obo/HP_0003085	Disproportionately long fibulae.
HP:0003086	Acromesomelia	biolink:PhenotypicFeature	hp	UMLS:C1864365			http://purl.obolibrary.org/obo/HP_0003086	Small hands and feet.
HP:0003088	Premature osteoarthritis	biolink:PhenotypicFeature	hp	UMLS:C1835121		Premature arthritis|Premature osteoarthritis	http://purl.obolibrary.org/obo/HP_0003088	
HP:0003089	Hamstring contractures	biolink:PhenotypicFeature	hp	SNOMEDCT_US:203074005|UMLS:C0410266		Hamstring contractures	http://purl.obolibrary.org/obo/HP_0003089	
HP:0003090	Hypoplasia of the capital femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1839254		Small innermost thighbone end part|Underdevelopment of the innermost thighbone end part|Small capital femoral epiphyses|Small femoral capital epiphyses|Small proximal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0003090	Underdevelopment of the proximal epiphysis of the femur.
HP:0003091	Trophic limb changes	biolink:PhenotypicFeature	hp	UMLS:C4025657			http://purl.obolibrary.org/obo/HP_0003091	Trophic changes occurring in a limb.
HP:0003093	Limited hip extension	biolink:PhenotypicFeature	hp	UMLS:C3553368		Limited hip extension|Restricted hip extension	http://purl.obolibrary.org/obo/HP_0003093	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	biolink:PhenotypicFeature	hp	MSH:D001170|SNOMEDCT_US:372939007|SNOMEDCT_US:396234004|UMLS:C0003869|UMLS:C4280547		Infected joint	http://purl.obolibrary.org/obo/HP_0003095	
HP:0003097	Short femur	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93255008|UMLS:C0345375	hposlim_core	Short thighbone|Femoral hypoplasia|Hypoplasia of the femora|Short femurs	http://purl.obolibrary.org/obo/HP_0003097	An abnormal shortening of the femur.
HP:0003099	Fibular overgrowth	biolink:PhenotypicFeature	hp	UMLS:C1864298		Overgrowth of calf bone	http://purl.obolibrary.org/obo/HP_0003099	Relatively increased growth of the fibula compared to that of the tibia.
HP:0003100	Slender long bone	biolink:PhenotypicFeature	hp	UMLS:C1833144		Long bones slender|Slender long bone|Thin long bones|Slender long bones|Gracile long bones|Slender, gracile long tubular bones|Thin, gracile long bones|Thin gracile long bones	http://purl.obolibrary.org/obo/HP_0003100	Reduced diameter of a long bone.
HP:0003102	Increased carrying angle	biolink:PhenotypicFeature	hp	UMLS:C1855478			http://purl.obolibrary.org/obo/HP_0003102	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	biolink:PhenotypicFeature	hp	UMLS:C4021741		Abnormal compact bone morphology|Abnormality of cortical bone	http://purl.obolibrary.org/obo/HP_0003103	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	biolink:PhenotypicFeature	hp	UMLS:C1851418		Protuberances at ends of long bones	http://purl.obolibrary.org/obo/HP_0003105	The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.
HP:0003106	Subperiosteal bone resorption	biolink:PhenotypicFeature	hp	UMLS:C1848541		Subperiosteal erosions	http://purl.obolibrary.org/obo/HP_0003106	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	biolink:PhenotypicFeature	hp	UMLS:C4025656		Abnormality of cholesterol metabolism|Abnormal cholesterol homeostasis	http://purl.obolibrary.org/obo/HP_0003107	Any deviation from the normal concentration of cholesterol in the blood circulation.
HP:0003108	Hyperglycinuria	biolink:PhenotypicFeature	hp	MSH:C563009|SNOMEDCT_US:236477004|UMLS:C0341706|UMLS:C0543541		High urine glycine levels|Glycinuria	http://purl.obolibrary.org/obo/HP_0003108	An increased concentration of glycine in the urine.
HP:0003109	Hyperphosphaturia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22450000|UMLS:C0268079|UMLS:C0948023		High urine phosphate levels|Phosphaturia	http://purl.obolibrary.org/obo/HP_0003109	An increased excretion of phosphates in the urine.
HP:0003110	Abnormality of urine homeostasis	biolink:PhenotypicFeature	hp	UMLS:C4025655		Pee issues|Urine issues	http://purl.obolibrary.org/obo/HP_0003110	An abnormality of the composition of urine or the levels of its components.
HP:0003111	Abnormal blood ion concentration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237840007|UMLS:C1704431|UMLS:C4025654		Electrolyte disorders|Abnormality of ion homeostasis	http://purl.obolibrary.org/obo/HP_0003111	Abnormality of the homeostasis (concentration) of a monoatomic ion.
HP:0003112	Abnormal circulating amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4025653		Abnormality of serum amino acid levels|Abnormality of serum amino acid level	http://purl.obolibrary.org/obo/HP_0003112	The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.
HP:0003113	Hypochloremia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10399008|UMLS:C0085680|UMLS:C0595901		Low blood chloride levels	http://purl.obolibrary.org/obo/HP_0003113	An abnormally decreased chloride concentration in the blood.
HP:0003114	obsolete Abnormal cardiological findings	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003114	
HP:0003115	Abnormal EKG	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102594003|UMLS:C0522055		EKG abnormality|Abnormal ECG|Abnormal EKG|Abnormal electrocardiogram	http://purl.obolibrary.org/obo/HP_0003115	Abnormal rhythm of the heart.
HP:0003116	Abnormal echocardiogram	biolink:PhenotypicFeature	hp	SNOMEDCT_US:169241000|UMLS:C0476369		Abnormal echocardiogram|Abnormal echocardiography	http://purl.obolibrary.org/obo/HP_0003116	An abnormality detectable by sonography of the heart (echocardiography).
HP:0003117	Abnormal circulating hormone level	biolink:PhenotypicFeature	hp	UMLS:C4025652		Abnormality of circulating hormone level	http://purl.obolibrary.org/obo/HP_0003117	An abnormal concentration of a hormone in the blood.
HP:0003118	Increased circulating cortisol level	biolink:PhenotypicFeature	hp	MSH:D000308|SNOMEDCT_US:237735008|SNOMEDCT_US:275437005|SNOMEDCT_US:47270006|UMLS:C0001622|UMLS:C0342443|UMLS:C4025651		Increased circulating cortisol level|Cushing syndrome|Hypercortisolism|Increased cortisol production	http://purl.obolibrary.org/obo/HP_0003118	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	biolink:PhenotypicFeature	hp	MSH:D050171|SNOMEDCT_US:370992007|UMLS:C0242339|UMLS:C4025650		Dyslipidemia	http://purl.obolibrary.org/obo/HP_0003119	Any deviation from the normal concentration of a lipid in the blood circulation.
HP:0003121	Limb joint contracture	biolink:PhenotypicFeature	hp	UMLS:C1969879		Limb contractures	http://purl.obolibrary.org/obo/HP_0003121	A contrqacture (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	biolink:PhenotypicFeature	hp	MSH:D006937|SNOMEDCT_US:13644009|SNOMEDCT_US:166830008|UMLS:C0020443|UMLS:C0595929		High cholesterol|Elevated serum cholesterol|Elevated total cholesterol|Increased total cholesterol	http://purl.obolibrary.org/obo/HP_0003124	An increased concentration of cholesterol in the blood.
HP:0003125	Reduced factor VIII activity	biolink:PhenotypicFeature	hp	MSH:D006467|SNOMEDCT_US:234440005|UMLS:C3494187|UMLS:C4025649		Factor VIII deficiency	http://purl.obolibrary.org/obo/HP_0003125	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	biolink:PhenotypicFeature	hp	UMLS:C1839606		Tubular proteinuria	http://purl.obolibrary.org/obo/HP_0003126	Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
HP:0003127	Hypocalciuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86353007|UMLS:C0020599		Low urine calcium levels	http://purl.obolibrary.org/obo/HP_0003127	An abnormally decreased calcium concentration in the urine.
HP:0003128	Lactic acidosis	biolink:PhenotypicFeature	hp	MSH:D000140|SNOMEDCT_US:190882007|SNOMEDCT_US:91273001|UMLS:C0001125|UMLS:C0347959		Increased lactate in body|Hyperlacticacidemia|Lactic acidemia|Lacticacidemia|Lacticacidosis	http://purl.obolibrary.org/obo/HP_0003128	An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
HP:0003130	Abnormal peripheral myelination	biolink:PhenotypicFeature	hp	UMLS:C4025648			http://purl.obolibrary.org/obo/HP_0003130	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	biolink:PhenotypicFeature	hp	MSH:D003555|SNOMEDCT_US:85020001|UMLS:C0010691		High urine cystine levels	http://purl.obolibrary.org/obo/HP_0003131	An increased concentration of cystine in the urine.
HP:0003133	Abnormality of the spinocerebellar tracts	biolink:PhenotypicFeature	hp	UMLS:C4025647			http://purl.obolibrary.org/obo/HP_0003133	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	biolink:PhenotypicFeature	hp	UMLS:C4020690		Sensory and motor nerve conduction abnormalities|Abnormal peripheral nerve transmission	http://purl.obolibrary.org/obo/HP_0003134	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:53124003|UMLS:C0268534			http://purl.obolibrary.org/obo/HP_0003137	An increased concentration of proline in the urine.
HP:0003138	Increased blood urea nitrogen	biolink:PhenotypicFeature	hp	UMLS:C0151539		Increased BUN|Increased blood urea nitrogen	http://purl.obolibrary.org/obo/HP_0003138	An increased amount of nitrogen in the form of urea in the blood.
HP:0003139	Panhypogammaglobulinemia	biolink:PhenotypicFeature	hp	UMLS:C1328587		Panypogammaglobulinemia	http://purl.obolibrary.org/obo/HP_0003139	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	biolink:PhenotypicFeature	hp	UMLS:C4025646			http://purl.obolibrary.org/obo/HP_0003140	
HP:0003141	Increased LDL cholesterol concentration	biolink:PhenotypicFeature	hp	MSH:D006938|SNOMEDCT_US:190773008|SNOMEDCT_US:398036000|UMLS:C0020445|UMLS:C0549399		Increased LDLc concentration|Increased plasma LDL levels|Increased LDL cholesterol|Increased circulating LDL level|Hyperbetalipoproteinemia|Increased beta-lipoproteins|Increased circulating low-density lipoprotein cholesterol|Increased circulating low-density lipoprotein levels	http://purl.obolibrary.org/obo/HP_0003141	An elevated concentration of low-density lipoprotein cholesterol in the blood.
HP:0003142	Excessive purine production	biolink:PhenotypicFeature	hp	UMLS:C4025645			http://purl.obolibrary.org/obo/HP_0003142	
HP:0003144	Increased serum serotonin	biolink:PhenotypicFeature	hp	UMLS:C0877243		Increased serum serotonin	http://purl.obolibrary.org/obo/HP_0003144	A increased concentration of serotonin in the blood.
HP:0003145	Decreased adenosylcobalamin	biolink:PhenotypicFeature	hp	UMLS:C1848556		Decreased ADOCBL	http://purl.obolibrary.org/obo/HP_0003145	Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.
HP:0003146	Hypocholesterolemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:61336008|UMLS:C0151718		Decreased circulating cholesterol level	http://purl.obolibrary.org/obo/HP_0003146	An decreased concentration of cholesterol in the blood.
HP:0003148	Elevated serum acid phosphatase	biolink:PhenotypicFeature	hp	UMLS:C1839866		Acid phosphatase elevated|Elevated serum acid phosphatase	http://purl.obolibrary.org/obo/HP_0003148	
HP:0003149	Hyperuricosuria	biolink:PhenotypicFeature	hp	UMLS:C0948643		High urine uric acid level	http://purl.obolibrary.org/obo/HP_0003149	An abnormally high level of uric acid in the urine.
HP:0003150	Glutaric aciduria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28987007|UMLS:C0268594		Glutarate aciduria|Glutaricaciduria|Increased glutarate level in urine	http://purl.obolibrary.org/obo/HP_0003150	An increased concentration of glutaric acid in the urine.
HP:0003152	obsolete Increased serum 1,25-dihydroxyvitamin D3	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003152	
HP:0003153	Cystathioninuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:13003007|UMLS:C0220993		High urine cystathionine levels	http://purl.obolibrary.org/obo/HP_0003153	An elevated urinary concentration of cystathionine.
HP:0003154	Increased circulating ACTH level	biolink:PhenotypicFeature	hp	UMLS:C4021740		High blood corticotropin levels|Increased circulating ACTH level|Increased plasma ACTH	http://purl.obolibrary.org/obo/HP_0003154	An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
HP:0003155	Elevated alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C0750857		Elevated ALP|Elevated alkaline phosphatase|Greatly elevated alkaline phosphatase|High serum alkaline phosphatase|Increased alkaline phosphatase|Increased serum alkaline phosphatase|Hyperphosphatasemia|Hyperphosphatasia	http://purl.obolibrary.org/obo/HP_0003155	Abnormally increased serum levels of alkaline phosphatase activity.
HP:0003158	Hyposthenuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:76023003|UMLS:C0232831		Reduced urinary osmolality	http://purl.obolibrary.org/obo/HP_0003158	An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
HP:0003159	Hyperoxaluria	biolink:PhenotypicFeature	hp	MSH:D006959|SNOMEDCT_US:367621000119107|UMLS:C0020500		High urine oxalate levels|Increased level of oxalate in urine	http://purl.obolibrary.org/obo/HP_0003159	Increased excretion of oxalates in the urine.
HP:0003160	Abnormal isoelectric focusing of serum transferrin	biolink:PhenotypicFeature	hp	UMLS:C2749688		Abnormal isoelectric focusing of serum transferrin|Abnormal transferrin isoelectric focusing	http://purl.obolibrary.org/obo/HP_0003160	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	biolink:PhenotypicFeature	hp	UMLS:C1848678		Hydroxyphenylpyruvic aciduria	http://purl.obolibrary.org/obo/HP_0003161	Increased concentration of pyruvic acid in the urine.
HP:0003162	Fasting hypoglycemia	biolink:PhenotypicFeature	hp	MSH:D007003|SNOMEDCT_US:6974005|UMLS:C0271708		Low blood sugar when fasting	http://purl.obolibrary.org/obo/HP_0003162	
HP:0003163	Elevated urinary delta-aminolevulinic acid	biolink:PhenotypicFeature	hp	UMLS:C1848702		Elevated urinary delta-aminolevulinic acid	http://purl.obolibrary.org/obo/HP_0003163	An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
HP:0003164	Hypothalamic gonadotropin-releasing hormone deficiency	biolink:PhenotypicFeature	hp	UMLS:C4025644		Hypothalamic GNRH deficiency	http://purl.obolibrary.org/obo/HP_0003164	
HP:0003165	Elevated circulating parathyroid hormone level	biolink:PhenotypicFeature	hp	UMLS:C0857973		Elevated circulating PTH level|Elevated serum parathyroid hormone|Elevated serum parathyroid hormone level|Elevated serum pth|Increased serum parathyroid hormone	http://purl.obolibrary.org/obo/HP_0003165	An abnormal increased concentration of parathyroid hormone.
HP:0003166	Increased urinary taurine	biolink:PhenotypicFeature	hp	UMLS:C3806447		Increased urinary taurine	http://purl.obolibrary.org/obo/HP_0003166	Increased concentration of taurine in the urine.
HP:0003167	Carnosinuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:410051001|UMLS:C3495558		High urine carnosine levels	http://purl.obolibrary.org/obo/HP_0003167	An increased concentration of carnosine in the urine.
HP:0003168	Dibasicaminoaciduria	biolink:PhenotypicFeature	hp	UMLS:C4025643			http://purl.obolibrary.org/obo/HP_0003168	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	biolink:PhenotypicFeature	hp	UMLS:C4021739	hposlim_core	Abnormality of the hipbone socket|Abnormality of the acetabulum|Acetabular abnormality	http://purl.obolibrary.org/obo/HP_0003170	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	biolink:PhenotypicFeature	hp	UMLS:C4021738	hposlim_core	Abnormality of the pubic bone|Abnormality of the pubic bones|Abnormality of the pubis	http://purl.obolibrary.org/obo/HP_0003172	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	biolink:PhenotypicFeature	hp	UMLS:C1865030		Hypoplastic pubic bones|Hypoplastic pubis	http://purl.obolibrary.org/obo/HP_0003173	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93008005|UMLS:C0685661		Abnormality of the ischial bones|Anomaly of the ischium	http://purl.obolibrary.org/obo/HP_0003174	An anomaly of the ischium, which forms the lower and back part of the hip bone.
HP:0003175	Hypoplastic ischia	biolink:PhenotypicFeature	hp	UMLS:C1859447	hposlim_core	Hypoplastic ischial bones|Hypoplastic ischii|Hypoplastic ischium	http://purl.obolibrary.org/obo/HP_0003175	Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
HP:0003177	Squared iliac bones	biolink:PhenotypicFeature	hp	UMLS:C1838186		Square iliac bones|Squaring of iliac bones	http://purl.obolibrary.org/obo/HP_0003177	A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
HP:0003179	Protrusio acetabuli	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59606006|UMLS:C0409495	hposlim_core	Protrusio acetabulae	http://purl.obolibrary.org/obo/HP_0003179	Intrapelvic bulging of the medial acetabular wall.
HP:0003180	Flat acetabular roof	biolink:PhenotypicFeature	hp	UMLS:C1837485	hposlim_core	Flat acetabular roofs|Flattened acetabular roof|Horizontal acetabulae|Horizontal acetabular roof|Horizontal acetabular roofs	http://purl.obolibrary.org/obo/HP_0003180	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	biolink:PhenotypicFeature	hp	UMLS:C1854910|UMLS:C1860796		Shallow acetabula|Shallow acetabulae|Shallow acetabular fossa|Shallow acetabulum	http://purl.obolibrary.org/obo/HP_0003182	
HP:0003183	Wide pubic symphysis	biolink:PhenotypicFeature	hp	UMLS:C1857190	hposlim_core	Wide symphysis of pubis	http://purl.obolibrary.org/obo/HP_0003183	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	biolink:PhenotypicFeature	hp	UMLS:C1836589		Limited hip abduction	http://purl.obolibrary.org/obo/HP_0003184	Reduced ability to move the femur outward to the side.
HP:0003185	Short greater sciatic notch	biolink:PhenotypicFeature	hp	UMLS:C1866689		Short sacroiliac notch|Shortened sacroiliac notches|Small sacroiliac notch	http://purl.obolibrary.org/obo/HP_0003185	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82231009|UMLS:C0269269		Inverted nipples|Invaginated nipples	http://purl.obolibrary.org/obo/HP_0003186	The presence of nipples that instead of pointing outward are retracted inwards.
HP:0003187	Breast hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8915006|UMLS:C0266013		Underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0003187	Underdevelopment of the breast.
HP:0003189	Long nose	biolink:PhenotypicFeature	hp	UMLS:C1839798		Elongated nose|Increased height of nose|Increased length of nose|Increased nasal height|Increased nasal length|Long nose|Nasal elongation	http://purl.obolibrary.org/obo/HP_0003189	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	biolink:PhenotypicFeature	hp	UMLS:C1844537		Cleft nostril|Ala nasi, cleft|Alar clefts|Cleft nasal alae|Notched nasal alae|Nostril coloboma	http://purl.obolibrary.org/obo/HP_0003191	The presence of a notch in the margin of the ala nasi.
HP:0003193	Allergic rhinitis	biolink:PhenotypicFeature	hp	MSH:D065631|SNOMEDCT_US:61582004|UMLS:C0847614|UMLS:C2607914		Hay fever|Hayfever|Nasal allergies	http://purl.obolibrary.org/obo/HP_0003193	It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
HP:0003194	Short nasal bridge	biolink:PhenotypicFeature	hp	UMLS:C1854689		Decreased length of bridge of nose|Decreased length of nasal bridge|Short bridge of nose|Short nasal bridge	http://purl.obolibrary.org/obo/HP_0003194	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249310005|UMLS:C0426414|UMLS:C1854114	hposlim_core	Decreased length of nose|Short nose|Shortened nose|Small nose|Hypoplastic nose|Nasal hypoplasia	http://purl.obolibrary.org/obo/HP_0003196	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	biolink:PhenotypicFeature	hp	MSH:D009135|SNOMEDCT_US:129565002|UMLS:C0026848		Muscle tissue disease|Myopathic changes	http://purl.obolibrary.org/obo/HP_0003198	A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
HP:0003199	Decreased muscle mass	biolink:PhenotypicFeature	hp	UMLS:C1837108		Decreased muscle mass	http://purl.obolibrary.org/obo/HP_0003199	
HP:0003200	Ragged-red muscle fibers	biolink:PhenotypicFeature	hp	UMLS:C3275417		Ragged-red muscle fibres|Mitochondrial proliferation in muscle tissue|Ragged red muscle fibers|Ragged-red fibers	http://purl.obolibrary.org/obo/HP_0003200	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	biolink:PhenotypicFeature	hp	MSH:D012206|SNOMEDCT_US:240131006|SNOMEDCT_US:89010004|UMLS:C0035410		Breakdown of skeletal muscle	http://purl.obolibrary.org/obo/HP_0003201	Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
HP:0003202	Skeletal muscle atrophy	biolink:PhenotypicFeature	hp	MSH:D009133|SNOMEDCT_US:74035001|UMLS:C0234958|UMLS:C0270948|UMLS:C0541794|UMLS:C1843479		Muscle degeneration|Muscle wasting|Amyotrophy|Amyotrophy involving the extremities|Muscle atrophy|Muscle atrophy, neurogenic|Muscle hypotrophy|Muscular atrophy|Neurogenic muscle atrophy|Neurogenic muscle atrophy, especially in the lower limbs|Neurogenic muscular atrophy	http://purl.obolibrary.org/obo/HP_0003202	The presence of skeletal muscular atrophy (which is also known as amyotrophy).
HP:0003203	Impaired oxidative burst	biolink:PhenotypicFeature	hp	UMLS:C4280805		Negative NBT reduction test|Negative nitroblue tetrazolium reduction test	http://purl.obolibrary.org/obo/HP_0003203	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	biolink:PhenotypicFeature	hp	UMLS:C4025642			http://purl.obolibrary.org/obo/HP_0003204	The intracellular accumulation of autofluorescent storage material.
HP:0003205	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material	biolink:PhenotypicFeature	hp	UMLS:C1836852		'Curvilinear profiles' ultrastructurally in cells|'curvilinear profiles' ultrastructurally|Curvilinear profiles ultrastructurally|Intracellular curvilinear profiles on ultrastructural analysis	http://purl.obolibrary.org/obo/HP_0003205	An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
HP:0003206	Decreased activity of NADPH oxidase	biolink:PhenotypicFeature	hp	UMLS:C1844394			http://purl.obolibrary.org/obo/HP_0003206	
HP:0003207	Arterial calcification	biolink:PhenotypicFeature	hp	UMLS:C1168153			http://purl.obolibrary.org/obo/HP_0003207	Pathological deposition of calcium salts in one or more arteries.
HP:0003208	Fingerprint intracellular accumulation of autofluorescent lipopigment storage material	biolink:PhenotypicFeature	hp	UMLS:C1836851		'Fingerprint profiles' ultrastructurally in cells|Fingerprint profiles ultrastructurally	http://purl.obolibrary.org/obo/HP_0003208	An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.
HP:0003209	Decreased pyruvate carboxylase activity	biolink:PhenotypicFeature	hp	UMLS:C4025641			http://purl.obolibrary.org/obo/HP_0003209	A decreased rate of pyruvate carboxylase activity.
HP:0003210	Decreased methylmalonyl-CoA mutase activity	biolink:PhenotypicFeature	hp	UMLS:C1848579		Decreased methylmalonyl CoA mutase activity	http://purl.obolibrary.org/obo/HP_0003210	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.
HP:0003212	Increased circulating IgE level	biolink:PhenotypicFeature	hp	UMLS:C0236175		Elevated immunoglobulin E|Elevated serum IgE|High immunoglobulin E	http://purl.obolibrary.org/obo/HP_0003212	An abnormally increased overall level of immunoglobulin E in blood.
HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA	biolink:PhenotypicFeature	hp	UMLS:C4025640			http://purl.obolibrary.org/obo/HP_0003213	
HP:0003214	Prolonged G2 phase of cell cycle	biolink:PhenotypicFeature	hp	UMLS:C4025639			http://purl.obolibrary.org/obo/HP_0003214	
HP:0003215	Dicarboxylic aciduria	biolink:PhenotypicFeature	hp	UMLS:C1856432			http://purl.obolibrary.org/obo/HP_0003215	An increased concentration of dicarboxylic acid in the urine.
HP:0003216	Generalized amyloid deposition	biolink:PhenotypicFeature	hp	UMLS:C1862968		Generalised amyloid deposition	http://purl.obolibrary.org/obo/HP_0003216	A diffuse form of amyloidosis.
HP:0003217	Hyperglutaminemia	biolink:PhenotypicFeature	hp	UMLS:C1839533		High plasma glutamine	http://purl.obolibrary.org/obo/HP_0003217	An increased concentration of glutamine in the blood.
HP:0003218	Oroticaciduria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124277009|SNOMEDCT_US:47641009|UMLS:C0268128		High urine orotic acid levels|Increased urinary orotic acid concentration|Orotic aciduria	http://purl.obolibrary.org/obo/HP_0003218	An increased concentration of orotic acid in the urine.
HP:0003219	Ethylmalonic aciduria	biolink:PhenotypicFeature	hp	UMLS:C1865353			http://purl.obolibrary.org/obo/HP_0003219	An increased concentration of ethylmalonic acid in the urine.
HP:0003220	Abnormality of chromosome stability	biolink:PhenotypicFeature	hp	MSH:D019457|UMLS:C0376628|UMLS:C1859424			http://purl.obolibrary.org/obo/HP_0003220	A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.
HP:0003221	Chromosomal breakage induced by crosslinking agents	biolink:PhenotypicFeature	hp	UMLS:C4021737		Chromosomal breakage induced by diepoxybutane|Chromosomal breakage induced by mitomycin C	http://purl.obolibrary.org/obo/HP_0003221	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	biolink:PhenotypicFeature	hp	UMLS:C4021736		Methylcobalamin deficiency	http://purl.obolibrary.org/obo/HP_0003223	Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.
HP:0003224	Increased cellular sensitivity to UV light	biolink:PhenotypicFeature	hp	UMLS:C1857707			http://purl.obolibrary.org/obo/HP_0003224	
HP:0003225	Reduced coagulation factor V activity	biolink:PhenotypicFeature	hp	MSH:D005166|SNOMEDCT_US:4320005|SNOMEDCT_US:88776002|UMLS:C0015499		Reduced factor V activity|Factor V deficiency	http://purl.obolibrary.org/obo/HP_0003225	Decreased activity of coagulation factor V.
HP:0003226	Rectilinear intracellular accumulation of autofluorescent lipopigment storage material	biolink:PhenotypicFeature	hp	UMLS:C1850447		Rectilinear profiles ultrastructurally	http://purl.obolibrary.org/obo/HP_0003226	An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.
HP:0003228	Hypernatremia	biolink:PhenotypicFeature	hp	MSH:D006955|SNOMEDCT_US:286926003|SNOMEDCT_US:39355002|UMLS:C0020488		High blood sodium levels	http://purl.obolibrary.org/obo/HP_0003228	An abnormally increased sodium concentration in the blood.
HP:0003231	Hypertyrosinemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:56595005|UMLS:C1879362		Increased tyrosine in blood|Tyrosinemia	http://purl.obolibrary.org/obo/HP_0003231	An increased concentration of tyrosine in the blood.
HP:0003232	Mitochondrial malic enzyme reduced	biolink:PhenotypicFeature	hp	UMLS:C1856697		Decreased mitochondrial malic enzyme	http://purl.obolibrary.org/obo/HP_0003232	
HP:0003233	Decreased HDL cholesterol concentration	biolink:PhenotypicFeature	hp	MSH:D052456|SNOMEDCT_US:190785000|UMLS:C0151691|UMLS:C0473527		Decreased HDL cholesterol|Decreased circulating high-density lipoprotein cholesterol|Low HDL-cholesterol|Decreased circulating high-density lipoprotein levels|Hypoalphalipoproteinemia	http://purl.obolibrary.org/obo/HP_0003233	An decreased concentration of high-density lipoprotein cholesterol in the blood.
HP:0003234	Decreased plasma carnitine	biolink:PhenotypicFeature	hp	SNOMEDCT_US:421784001|UMLS:C1142132		Decreased plasma carnitine|Carnitine deficiency	http://purl.obolibrary.org/obo/HP_0003234	A decreased concentration of carnitine in the blood.
HP:0003235	Hypermethioninemia	biolink:PhenotypicFeature	hp	MSH:C564683|SNOMEDCT_US:124283007|SNOMEDCT_US:43123004|SNOMEDCT_US:57835009|UMLS:C0268621		Increased methionine in blood|Methioninemia	http://purl.obolibrary.org/obo/HP_0003235	An increased concentration of methionine in the blood.
HP:0003236	Elevated serum creatine kinase	biolink:PhenotypicFeature	hp	UMLS:C0151576|UMLS:C0241005		Elevated blood creatine phosphokinase|Elevated circulating creatine phosphokinase|Elevated creatine kinase|Elevated serum CPK|Elevated serum creatine kinase|Elevated serum creatine phosphokinase|High serum creatine kinase|Increased CPK|Increased creatine kinase|Increased creatine phosphokinase|Increased serum CK|Increased serum creatine kinase|Increased serum creatine phosphokinase	http://purl.obolibrary.org/obo/HP_0003236	An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
HP:0003237	Increased circulating IgG level	biolink:PhenotypicFeature	hp	UMLS:C1858977		Increased IgG level|Increased levels of IgG|Increased total IgG in blood	http://purl.obolibrary.org/obo/HP_0003237	An abnormally increased level of immunoglobulin G in blood.
HP:0003238	Hyperpepsinogenemia I	biolink:PhenotypicFeature	hp	UMLS:C4025638			http://purl.obolibrary.org/obo/HP_0003238	
HP:0003239	Phosphoethanolaminuria	biolink:PhenotypicFeature	hp	MSH:C562646|SNOMEDCT_US:55236002|UMLS:C0268412		High urine phosphoethanolamine levels	http://purl.obolibrary.org/obo/HP_0003239	An increased concentration of phosphoethanolamine in the urine.
HP:0003240	Increased phosphoribosylpyrophosphate synthetase level	biolink:PhenotypicFeature	hp	UMLS:C4025637		Increased PRPS1 activity|Increased phosphoribosyl pyrophosphate synthetase activity	http://purl.obolibrary.org/obo/HP_0003240	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	biolink:PhenotypicFeature	hp	UMLS:C1855333		Underdevelopment of external reproductive organs|Hypogenitalism|Small genitalia	http://purl.obolibrary.org/obo/HP_0003241	Underdevelopment of part or all of the external reproductive organs.
HP:0003244	Penile hypospadias	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204888000|UMLS:C1691215			http://purl.obolibrary.org/obo/HP_0003244	Location of the urethral opening on the inferior aspect of the penis.
HP:0003246	Prominent scrotal raphe	biolink:PhenotypicFeature	hp	UMLS:C1852407		Prominent perineal raphe	http://purl.obolibrary.org/obo/HP_0003246	Increased size of the ridge of tissue that extends along the midline of the scrotum.
HP:0003247	Overgrowth of external genitalia	biolink:PhenotypicFeature	hp	UMLS:C1851722		Overgrowth of external genitalia	http://purl.obolibrary.org/obo/HP_0003247	
HP:0003248	Gonadal tissue inappropriate for external genitalia or chromosomal sex	biolink:PhenotypicFeature	hp	UMLS:C1860268			http://purl.obolibrary.org/obo/HP_0003248	
HP:0003249	Genital ulcers	biolink:PhenotypicFeature	hp	UMLS:C0151281		Genital ulcers	http://purl.obolibrary.org/obo/HP_0003249	
HP:0003250	Aplasia of the vagina	biolink:PhenotypicFeature	hp	MSH:C536523|SNOMEDCT_US:248871003|SNOMEDCT_US:87380008|UMLS:C0220763|UMLS:C1321884|UMLS:C1841990		Absent vagina|Congenital absence of the vagina	http://purl.obolibrary.org/obo/HP_0003250	Aplasia of the vagina.
HP:0003251	Male infertility	biolink:PhenotypicFeature	hp	MSH:D007248|SNOMEDCT_US:2904007|UMLS:C0021364		Male infertility	http://purl.obolibrary.org/obo/HP_0003251	
HP:0003252	Anteriorly displaced genitalia	biolink:PhenotypicFeature	hp	UMLS:C1848653			http://purl.obolibrary.org/obo/HP_0003252	
HP:0003254	Abnormality of DNA repair	biolink:PhenotypicFeature	hp	UMLS:C4021848			http://purl.obolibrary.org/obo/HP_0003254	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	biolink:PhenotypicFeature	hp	MSH:D001778|SNOMEDCT_US:362970003|SNOMEDCT_US:64779008|UMLS:C0005779		Coagulopathy	http://purl.obolibrary.org/obo/HP_0003256	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	biolink:PhenotypicFeature	hp	UMLS:C3279658			http://purl.obolibrary.org/obo/HP_0003258	
HP:0003259	Elevated serum creatinine	biolink:PhenotypicFeature	hp	SNOMEDCT_US:166717003|UMLS:C0700225		Elevated creatinine|High blood creatinine level|Increased creatinine|Increased serum creatinine	http://purl.obolibrary.org/obo/HP_0003259	An increased amount of creatinine in the blood.
HP:0003260	Hydroxyprolinemia	biolink:PhenotypicFeature	hp	MSH:C562669|SNOMEDCT_US:25739007|UMLS:C0268531		High blood hydroxyproline levels	http://purl.obolibrary.org/obo/HP_0003260	An increased concentration of hydroxyproline in the blood.
HP:0003261	Increased circulating IgA level	biolink:PhenotypicFeature	hp	UMLS:C0239984		Elevated IgA|Elevated serum IgA|IgA hypergammaglobulinemia|Increased levels of IgA|Increased serum IgA	http://purl.obolibrary.org/obo/HP_0003261	An abnormally increased level of immunoglobulin A in blood.
HP:0003262	Smooth muscle antibody positivity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:310290006|UMLS:C0241185		Anti-smooth muscle antibody positivity|Smooth muscle antibody positive	http://purl.obolibrary.org/obo/HP_0003262	The presence in serum of antibodies against smooth muscle.
HP:0003264	Deficiency of N-acetylglucosamine-1-phosphotransferase	biolink:PhenotypicFeature	hp	MSH:D009081|SNOMEDCT_US:70199000|UMLS:C0020725			http://purl.obolibrary.org/obo/HP_0003264	
HP:0003265	Neonatal hyperbilirubinemia	biolink:PhenotypicFeature	hp	MSH:D051556|SNOMEDCT_US:281610001|UMLS:C0857007		High blood bilirubin levels in neonate|Hyperbilirubinemia, neonatal	http://purl.obolibrary.org/obo/HP_0003265	A type of hyperbilirubinemia with neonatal onset.
HP:0003267	Reduced orotidine 5-prime phosphate decarboxylase level	biolink:PhenotypicFeature	hp	UMLS:C4020845|UMLS:C4025636		Orotidine-5-prime-phosphate decarboxylase defect	http://purl.obolibrary.org/obo/HP_0003267	An abnormal decrease in orotidine 5'-phosphate decarboxylase level.
HP:0003268	Argininuria	biolink:PhenotypicFeature	hp	UMLS:C4025635		High urine arginine levels	http://purl.obolibrary.org/obo/HP_0003268	A increased concentration of arginine in the urine.
HP:0003269	Sudanophilic leukodystrophy	biolink:PhenotypicFeature	hp	MSH:D020371|SNOMEDCT_US:64855000|UMLS:C0205711			http://purl.obolibrary.org/obo/HP_0003269	
HP:0003270	Abdominal distention	biolink:PhenotypicFeature	hp	SNOMEDCT_US:41931001|SNOMEDCT_US:60728008|UMLS:C0000731	hposlim_core	Abdominal bloating|Abdominal swelling|Belly bloating|Bloating|Abdominal distension|Distended abdomen	http://purl.obolibrary.org/obo/HP_0003270	Distention of the abdomen.
HP:0003271	Visceromegaly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28543008|UMLS:C0042782			http://purl.obolibrary.org/obo/HP_0003271	Abnormal increased size of the viscera of the abdomen.
HP:0003272	Abnormality of the hip bone	biolink:PhenotypicFeature	hp	UMLS:C4021735		Abnormality of the hip bone|Abnormality of the hips	http://purl.obolibrary.org/obo/HP_0003272	An abnormality of the hip bone.
HP:0003273	Hip contracture	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202283002|UMLS:C0409354		Flexion contracture of hips|Flexion contractures of hips|Hip contractures|Hip flexion contractures	http://purl.obolibrary.org/obo/HP_0003273	
HP:0003274	Hypoplastic acetabulae	biolink:PhenotypicFeature	hp	UMLS:C1846442	hposlim_core	Acetabular hypoplasia|Hypoplastic acetabula	http://purl.obolibrary.org/obo/HP_0003274	Underdeveloped acetabulae.
HP:0003275	Narrow pelvis bone	biolink:PhenotypicFeature	hp	UMLS:C1848103	hposlim_core	Narrow pelvis|Narrow pelvis bone	http://purl.obolibrary.org/obo/HP_0003275	Reduced side to side width of the pelvis.
HP:0003276	Pelvic bone exostoses	biolink:PhenotypicFeature	hp	UMLS:C1844689		Pelvic exostoses	http://purl.obolibrary.org/obo/HP_0003276	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 wings	biolink:PhenotypicFeature	hp	UMLS:C1854785			http://purl.obolibrary.org/obo/HP_0003277	
HP:0003278	Square pelvis bone	biolink:PhenotypicFeature	hp	UMLS:C1849953		Square pelvis|Square pelvis bone|Squared off pelvis	http://purl.obolibrary.org/obo/HP_0003278	An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
HP:0003279	Coxa magna	biolink:PhenotypicFeature	hp	MSH:D000070603|SNOMEDCT_US:296041000119103|UMLS:C1860826			http://purl.obolibrary.org/obo/HP_0003279	Widening of the femoral head and neck.
HP:0003281	Increased circulating ferritin concentration	biolink:PhenotypicFeature	hp	UMLS:C0241013|UMLS:C0743912|UMLS:C3854388		Elevated serum ferritin|High ferritin level|Increased ferritin|Increased serum ferritin level|Hyperferritinaemia|Hyperferritinemia|Increased plasma ferritin	http://purl.obolibrary.org/obo/HP_0003281	Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.
HP:0003282	Low alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C1860130		Low ALP|Decreased serum alkaline phosphatase	http://purl.obolibrary.org/obo/HP_0003282	Abnormally reduced serum levels of alkaline phosphatase.
HP:0003286	Cystathioninemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6669004|UMLS:C0268618		High blood cystathionine levels	http://purl.obolibrary.org/obo/HP_0003286	An increased concentration of cystathionine in the blood.
HP:0003287	Abnormality of mitochondrial metabolism	biolink:PhenotypicFeature	hp	UMLS:C4021734		Mitochondrial dysfunction	http://purl.obolibrary.org/obo/HP_0003287	A functional anomaly of mitochondria.
HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	biolink:PhenotypicFeature	hp	UMLS:C4025634		Mitochondrial PCC defect	http://purl.obolibrary.org/obo/HP_0003288	
HP:0003292	Decreased serum leptin	biolink:PhenotypicFeature	hp	UMLS:C1837802		Decreased serum leptin|Reduced circulating leptin level	http://purl.obolibrary.org/obo/HP_0003292	A decreased concentration of leptin in the blood.
HP:0003295	obsolete Impaired FSH and LH secretion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003295	
HP:0003296	Hyperthreoninuria	biolink:PhenotypicFeature	hp	UMLS:C2673931		High urine threonine levels	http://purl.obolibrary.org/obo/HP_0003296	An increased concentration of threonine in the urine.
HP:0003297	Hyperlysinuria	biolink:PhenotypicFeature	hp	UMLS:C4021733		High urine lysine levels|Lysinuria	http://purl.obolibrary.org/obo/HP_0003297	An increased concentration of lysine in the urine.
HP:0003298	Spina bifida occulta	biolink:PhenotypicFeature	hp	MSH:D016136|SNOMEDCT_US:76916001|UMLS:C0080174	hposlim_core		http://purl.obolibrary.org/obo/HP_0003298	The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
HP:0003300	Ovoid vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1855665|UMLS:C4020844		Oval vertebral bodies|Ovoid vertebrae|Ovoid-shaped vertebral bodies|Bullet vertebral body	http://purl.obolibrary.org/obo/HP_0003300	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	biolink:PhenotypicFeature	hp	UMLS:C1842153	hposlim_core	Irregular end plates|Irregular endplates|end-plate irregularities|endplate irregularities|endplate irregularity|irregular vertebral plates|vertebral endplate irregularity	http://purl.obolibrary.org/obo/HP_0003301	An irregular surface of the vertebral end plates, which are normally relatively smooth.
HP:0003302	Spondylolisthesis	biolink:PhenotypicFeature	hp	MSH:D013168|SNOMEDCT_US:274152003|UMLS:C0038016		Displacement of one backbone compared to another|Slipped backbone|Spondylolithesis	http://purl.obolibrary.org/obo/HP_0003302	Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
HP:0003304	Spondylolysis	biolink:PhenotypicFeature	hp	MSH:D013169|SNOMEDCT_US:240221008|UMLS:C0038018	hposlim_core		http://purl.obolibrary.org/obo/HP_0003304	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	biolink:PhenotypicFeature	hp	UMLS:C1844753			http://purl.obolibrary.org/obo/HP_0003305	Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
HP:0003306	Spinal rigidity	biolink:PhenotypicFeature	hp	UMLS:C1858025		Reduced spine movement|Rigid spine	http://purl.obolibrary.org/obo/HP_0003306	Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
HP:0003307	Hyperlordosis	biolink:PhenotypicFeature	hp	MSH:D008141|SNOMEDCT_US:249710008|SNOMEDCT_US:61960001|UMLS:C0024003	hposlim_core	Prominent swayback|Lordosis	http://purl.obolibrary.org/obo/HP_0003307	Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
HP:0003308	Cervical subluxation	biolink:PhenotypicFeature	hp	UMLS:C1846798			http://purl.obolibrary.org/obo/HP_0003308	A partial dislocation of one or more intervertebral joints in the cervical vertebral column.
HP:0003309	Ovoid thoracolumbar vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1868556		Ovoid thoracic and lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0003309	
HP:0003310	Abnormality of the odontoid process	biolink:PhenotypicFeature	hp	UMLS:C1864794		Abnormal odontoid peg|Abnormal odontoid process	http://purl.obolibrary.org/obo/HP_0003310	Abnormality of the dens of the axis, which is also known as the odontoid process.
HP:0003311	Hypoplasia of the odontoid process	biolink:PhenotypicFeature	hp	UMLS:C1846439	hposlim_core	Hypoplastic odontoid process|Odontoid hypoplasia|Small odontoid peg|Small odontoid process	http://purl.obolibrary.org/obo/HP_0003311	Developmental hypoplasia of the dens of the axis.
HP:0003312	Abnormal form of the vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1839326		Abnormally shaped vertebrae	http://purl.obolibrary.org/obo/HP_0003312	Abnormal morphology of vertebral body.
HP:0003316	Butterfly vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1844752		Butterfly vertebrae|Anterior rachischisis|Sagittal clefting of vertebrae	http://purl.obolibrary.org/obo/HP_0003316	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298186005|UMLS:C0574967		Cervical spine joint hypermobility	http://purl.obolibrary.org/obo/HP_0003318	
HP:0003319	Abnormality of the cervical spine	biolink:PhenotypicFeature	hp	UMLS:C1852464		Abnormal cervical spine|Abnormality of cervical vertebra|Abnormality of the cervical vertebrae|Cervical spine abnormalities|Cervical vertebral abnormalities|Disorder of cervical vertebra|Cervical vertebral anomalies	http://purl.obolibrary.org/obo/HP_0003319	Any abnormality of the cervical vertebral column.
HP:0003320	C1-C2 subluxation	biolink:PhenotypicFeature	hp	UMLS:C1848446			http://purl.obolibrary.org/obo/HP_0003320	A partial dislocation of the atlantoaxial joints.
HP:0003321	Biconcave flattened vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1833753			http://purl.obolibrary.org/obo/HP_0003321	
HP:0003323	Progressive muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C0240421		Muscle weakness, progressive|Progressive muscular weakness	http://purl.obolibrary.org/obo/HP_0003323	
HP:0003324	Generalized muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C0746674		Generalised muscle weakness|Generalized weakness|Muscle weakness, diffuse|Muscle weakness, generalized	http://purl.obolibrary.org/obo/HP_0003324	Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
HP:0003325	Limb-girdle muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C1858127		Limb girdle weakness|Muscle weakness, limb-girdle|Muscular weakness, limb-girdle	http://purl.obolibrary.org/obo/HP_0003325	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	biolink:PhenotypicFeature	hp	MSH:D063806|SNOMEDCT_US:68962001|UMLS:C0231528		Muscle ache|Muscle pain|Myalgias	http://purl.obolibrary.org/obo/HP_0003326	Pain in muscle.
HP:0003327	Axial muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C1843697			http://purl.obolibrary.org/obo/HP_0003327	Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
HP:0003328	Abnormal hair laboratory examination	biolink:PhenotypicFeature	hp	UMLS:C4025632			http://purl.obolibrary.org/obo/HP_0003328	
HP:0003329	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes	biolink:PhenotypicFeature	hp	UMLS:C4025631			http://purl.obolibrary.org/obo/HP_0003329	
HP:0003330	Abnormal bone structure	biolink:PhenotypicFeature	hp	UMLS:C4025630			http://purl.obolibrary.org/obo/HP_0003330	Any anomaly in the composite material or the layered arrangement of the bony skeleton.
HP:0003332	Absent primary metaphyseal spongiosa	biolink:PhenotypicFeature	hp	UMLS:C3277126			http://purl.obolibrary.org/obo/HP_0003332	
HP:0003333	Increased serum beta-hexosaminidase	biolink:PhenotypicFeature	hp	UMLS:C2673361			http://purl.obolibrary.org/obo/HP_0003333	
HP:0003334	Elevated circulating catecholamine level	biolink:PhenotypicFeature	hp	UMLS:C4025629			http://purl.obolibrary.org/obo/HP_0003334	An abnormal increase in catecholamine concentration in the blood.
HP:0003335	obsolete Low gonadotropins (secondary hypogonadism)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003335	
HP:0003336	Abnormal enchondral ossification	biolink:PhenotypicFeature	hp	UMLS:C4025628			http://purl.obolibrary.org/obo/HP_0003336	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	biolink:PhenotypicFeature	hp	UMLS:C4021732		Poor prothrombin consumption	http://purl.obolibrary.org/obo/HP_0003337	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	biolink:PhenotypicFeature	hp	UMLS:C4025627			http://purl.obolibrary.org/obo/HP_0003338	
HP:0003339	Pyrimidine-responsive megaloblastic anemia	biolink:PhenotypicFeature	hp	UMLS:C4021731		Pyrimidine-responsive megaloblastic anaemia|Anemia corrected by uridylic acid and cytidylic acid	http://purl.obolibrary.org/obo/HP_0003339	A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.
HP:0003340	obsolete Abnormal dermatological laboratory findings	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003340	
HP:0003341	Junctional split	biolink:PhenotypicFeature	hp	UMLS:C4021730		Subepidermal blistering with cleavage in the lamina lucida	http://purl.obolibrary.org/obo/HP_0003341	The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
HP:0003343	Reduced glutathione synthetase level	biolink:PhenotypicFeature	hp	MSH:C536835|SNOMEDCT_US:124706000|SNOMEDCT_US:234589002|SNOMEDCT_US:39112005|UMLS:C0398746		Glutathione synthetase deficiency	http://purl.obolibrary.org/obo/HP_0003343	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	biolink:PhenotypicFeature	hp	UMLS:C3151952		3-methylglutaricaciduria	http://purl.obolibrary.org/obo/HP_0003344	
HP:0003345	Elevated urinary norepinephrine	biolink:PhenotypicFeature	hp	UMLS:C4025626			http://purl.obolibrary.org/obo/HP_0003345	An increased concentration of noradrenaline in the urine.
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin	biolink:PhenotypicFeature	hp	UMLS:C4025625			http://purl.obolibrary.org/obo/HP_0003347	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	biolink:PhenotypicFeature	hp	MSH:C562684|SNOMEDCT_US:2359002|UMLS:C0268630|UMLS:C1839424|UMLS:C1849489		Increased blood alanine|Increased serum alanine	http://purl.obolibrary.org/obo/HP_0003348	An increased concentration of alanine in the blood.
HP:0003349	Low cholesterol esterification rate	biolink:PhenotypicFeature	hp	UMLS:C1843371			http://purl.obolibrary.org/obo/HP_0003349	A reduction in the rate of cholesterol esterification.
HP:0003351	Decreased circulating renin level	biolink:PhenotypicFeature	hp	UMLS:C1845206		Decreased plasma renin activity|Low plasma renin activity|Suppressed plasma renin activity	http://purl.obolibrary.org/obo/HP_0003351	An decreased level of renin in the blood.
HP:0003352	Endopolyploidy on chromosome studies of bone marrow	biolink:PhenotypicFeature	hp	UMLS:C4025624			http://purl.obolibrary.org/obo/HP_0003352	An increase in the number of chromosome sets per cell in bone marrow cells.
HP:0003353	Propionyl-CoA carboxylase deficiency	biolink:PhenotypicFeature	hp	MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579			http://purl.obolibrary.org/obo/HP_0003353	An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.
HP:0003354	Hyperthreoninemia	biolink:PhenotypicFeature	hp	UMLS:C1848861		High blood threonine levels|Elevated circulating threonine	http://purl.obolibrary.org/obo/HP_0003354	An increased concentration of threonine in the blood.
HP:0003355	Aminoaciduria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:35912001|UMLS:C0238621|UMLS:C4020843		High urine amino acid levels|Increased levels of animo acids in urine|Abnormal urinary amino-acid findings|Hyperaminoaciduria	http://purl.obolibrary.org/obo/HP_0003355	An increased concentration of an amino acid in the urine.
HP:0003357	Thymic hormone decreased	biolink:PhenotypicFeature	hp	UMLS:C1857652		Decreased thymic hormone	http://purl.obolibrary.org/obo/HP_0003357	A reduction in the level of thymic horomone.
HP:0003358	Elevated intracellular cystine	biolink:PhenotypicFeature	hp	UMLS:C4025623			http://purl.obolibrary.org/obo/HP_0003358	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	biolink:PhenotypicFeature	hp	UMLS:C1848958		Decreased urinary sulfate|Decreased urinary sulphate	http://purl.obolibrary.org/obo/HP_0003359	Decreased concentration of sulfate in the urine.
HP:0003361	Tryptophanuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18789002|UMLS:C0268472		High urine tryptophan levels	http://purl.obolibrary.org/obo/HP_0003361	An increased concentration of tryptophan in the urine.
HP:0003362	Increased VLDL cholesterol concentration	biolink:PhenotypicFeature	hp	UMLS:C4021729		Increased plasma VLDL cholesterol|Increased circulating very-low-density lipoprotein cholesterol|Increased circulating very-low-density lipoprotein levels	http://purl.obolibrary.org/obo/HP_0003362	An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
HP:0003363	Abdominal situs inversus	biolink:PhenotypicFeature	hp	Fyler:3816|MSH:D012857|SNOMEDCT_US:27317008|SNOMEDCT_US:43876007|UMLS:C0037221		Situs inversus visceralis|Situs inversus viscerum	http://purl.obolibrary.org/obo/HP_0003363	A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.
HP:0003365	Arthralgia of the hip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49218002|UMLS:C0019559		Hip joint pain|Coxalgia|Hip arthralgia	http://purl.obolibrary.org/obo/HP_0003365	Joint pain affecting the hip.
HP:0003366	Abnormal femoral neck/head morphology	biolink:PhenotypicFeature	hp	UMLS:C4025622		Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region	http://purl.obolibrary.org/obo/HP_0003366	
HP:0003367	Abnormal femoral neck morphology	biolink:PhenotypicFeature	hp	UMLS:C4025621		Abnormal neck of thigh bone|Abnormality of the femoral neck	http://purl.obolibrary.org/obo/HP_0003367	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	biolink:PhenotypicFeature	hp	UMLS:C4025620		Abnormal head of thigh bone|Abnormality of the femoral head	http://purl.obolibrary.org/obo/HP_0003368	An abnormality of the femoral head.
HP:0003370	Flat capital femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1842155		Flat end part of innermost thighbone|Flat capital femoral epiphyses|Flat femoral capital epiphyses|Flat proximal femoral epiphyses|Flattened proximal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0003370	An abnormal flattening of the proximal epiphysis of the femur.
HP:0003371	Enlargement of the proximal femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1859697		Enlarged end part of innermost thighbone|Enlarged capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0003371	An abnormal enlargement of the proximal epiphysis of the femur.
HP:0003375	Narrow greater sciatic notch	biolink:PhenotypicFeature	hp	SNOMEDCT_US:289457006|UMLS:C0566888		Narrow greater sacrosciatic notches|Narrow sacroiliac notch|Narrow sacrosciatic notch|Narrow sciatic notches|Narrowed greater sciatic notch|Narrowed sacrosciatic notch|Small sacrosciatic notch|Small sacrosciatic notches	http://purl.obolibrary.org/obo/HP_0003375	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	biolink:PhenotypicFeature	hp	MSH:D020233|SNOMEDCT_US:27253007|UMLS:C0427149		High stepping|'steppage' gait	http://purl.obolibrary.org/obo/HP_0003376	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	biolink:PhenotypicFeature	hp	UMLS:C1968790		Axon degeneration and regeneration	http://purl.obolibrary.org/obo/HP_0003378	A pattern of simultaneous degeneration and regeneration of axons (see comment).
HP:0003380	Decreased number of peripheral myelinated nerve fibers	biolink:PhenotypicFeature	hp	UMLS:C1858285		Decreased number of peripheral myelinated nerve fibres|Decreased number of large and small myelinated fibers|Loss of myelinated fibers	http://purl.obolibrary.org/obo/HP_0003380	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	biolink:PhenotypicFeature	hp	UMLS:C1832776			http://purl.obolibrary.org/obo/HP_0003382	
HP:0003383	Onion bulb formation	biolink:PhenotypicFeature	hp	UMLS:C1847906		'Onion bulb' formations|Onion bulb formations	http://purl.obolibrary.org/obo/HP_0003383	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	biolink:PhenotypicFeature	hp	UMLS:C4025619			http://purl.obolibrary.org/obo/HP_0003384	Atrophic changes of axons of the peripheral nervous system.
HP:0003387	Decreased number of large peripheral myelinated nerve fibers	biolink:PhenotypicFeature	hp	UMLS:C1859606		Decreased number of large peripheral myelinated nerve fibres|Depletion of large myelinated fibers|Loss of large myelinated fibers|Loss of larger myelinated nerve fibers	http://purl.obolibrary.org/obo/HP_0003387	A reduced number of large myelinated nerve fibers.
HP:0003388	Easy fatigability	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248268002|UMLS:C0424585|UMLS:C1837098		Tired easily	http://purl.obolibrary.org/obo/HP_0003388	Increased susceptibility to fatigue.
HP:0003390	Sensory axonal neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1842587|UMLS:C1970883		Axonal sensory neuropathy|Peripheral sensory axonal neuropathy	http://purl.obolibrary.org/obo/HP_0003390	An axonal neuropathy of peripheral sensory nerves.
HP:0003391	Gowers sign	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298294005|SNOMEDCT_US:85905009|UMLS:C0234182|UMLS:C0575071		Gower sign|Positive Gower sign|Positive Gowers sign	http://purl.obolibrary.org/obo/HP_0003391	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	biolink:PhenotypicFeature	hp	UMLS:C1832277			http://purl.obolibrary.org/obo/HP_0003392	
HP:0003393	Thenar muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1864715		Thenar atrophy	http://purl.obolibrary.org/obo/HP_0003393	Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.
HP:0003394	Muscle spasm	biolink:PhenotypicFeature	hp	MSH:D009120|SNOMEDCT_US:55300003|UMLS:C0026821		Muscle cramps	http://purl.obolibrary.org/obo/HP_0003394	Sudden and involuntary contractions of one or more muscles.
HP:0003396	Syringomyelia	biolink:PhenotypicFeature	hp	MSH:D013595|SNOMEDCT_US:111496009|UMLS:C0039144		Fluid-filled cyst in spinal cord|Syrinx	http://purl.obolibrary.org/obo/HP_0003396	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	biolink:PhenotypicFeature	hp	UMLS:C1853950		Generalised hypotonia due to defect at the neuromuscular junction	http://purl.obolibrary.org/obo/HP_0003397	
HP:0003398	Abnormal synaptic transmission at the neuromuscular junction	biolink:PhenotypicFeature	hp	UMLS:C4020842|UMLS:C4025618		Abnormality of neuromuscular transmission	http://purl.obolibrary.org/obo/HP_0003398	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	biolink:PhenotypicFeature	hp	UMLS:C1866637		Basal lamina 'onion bulb' formations on nerve biopsy	http://purl.obolibrary.org/obo/HP_0003400	A type of onion bulb formation prominently affecting the area of the basal lamina.
HP:0003401	Paresthesia	biolink:PhenotypicFeature	hp	MSH:D010292|SNOMEDCT_US:91019004|UMLS:C0030554		Pins and needles feeling|Tingling|Paresthesias	http://purl.obolibrary.org/obo/HP_0003401	Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
HP:0003402	Decreased miniature endplate potentials	biolink:PhenotypicFeature	hp	UMLS:C1853952		Decreased MEPP|Small miniature endplate currents|Small miniature endplate potentials	http://purl.obolibrary.org/obo/HP_0003402	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	biolink:PhenotypicFeature	hp	UMLS:C4020841|UMLS:C4021728		EMG: decremental response of CMAP to repetitive nerve stimulation|EMG: decrement at repetitive stimulation	http://purl.obolibrary.org/obo/HP_0003403	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	biolink:PhenotypicFeature	hp	UMLS:C1865417			http://purl.obolibrary.org/obo/HP_0003405	
HP:0003406	Peripheral nerve compression	biolink:PhenotypicFeature	hp	UMLS:C1851414			http://purl.obolibrary.org/obo/HP_0003406	
HP:0003409	Distal sensory impairment of all modalities	biolink:PhenotypicFeature	hp	UMLS:C1836527		Distal sensory loss to all modalities	http://purl.obolibrary.org/obo/HP_0003409	
HP:0003411	Proximal femoral metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C1836320		Irregular proximal femoral metaphyses	http://purl.obolibrary.org/obo/HP_0003411	Irregularity of the normally smooth surface of the proximal metaphysis of the femur.
HP:0003413	Atlantoaxial abnormality	biolink:PhenotypicFeature	hp	UMLS:C4025617			http://purl.obolibrary.org/obo/HP_0003413	An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.
HP:0003414	Atlantoaxial dislocation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:263042007|SNOMEDCT_US:45179004|UMLS:C0263905		Atlanto-axial subluxation|Atlantoaxial subluxation	http://purl.obolibrary.org/obo/HP_0003414	Partial dislocation of the atlantoaxial joint.
HP:0003416	Spinal canal stenosis	biolink:PhenotypicFeature	hp	UMLS:C1861329	hposlim_core	Narrow spinal canal|Spinal stenosis	http://purl.obolibrary.org/obo/HP_0003416	An abnormal narrowing of the spinal canal.
HP:0003417	Coronal cleft vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1834954		Coronal clefts|Coronal vertebral clefts|Vertebral coronal clefts|coronal cleft of vertebrae	http://purl.obolibrary.org/obo/HP_0003417	Frontal schisis (cleft or cleavage) of vertebral bodies.
HP:0003418	Back pain	biolink:PhenotypicFeature	hp	MSH:D001416|SNOMEDCT_US:161891005|UMLS:C0004604		Back pain	http://purl.obolibrary.org/obo/HP_0003418	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
HP:0003419	Low back pain	biolink:PhenotypicFeature	hp	MSH:D017116|SNOMEDCT_US:279039007|UMLS:C0024031		Lower back pain	http://purl.obolibrary.org/obo/HP_0003419	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
HP:0003421	obsolete Platyspondyly (childhood)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003421	
HP:0003422	Vertebral segmentation defect	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205455005|UMLS:C0432163	hposlim_core	Abnormal spinal segmentation	http://purl.obolibrary.org/obo/HP_0003422	An abnormality related to a defect of vertebral separation during development.
HP:0003423	Thoracolumbar kyphoscoliosis	biolink:PhenotypicFeature	hp	UMLS:C1859335		Dorsolumbar kyphosis	http://purl.obolibrary.org/obo/HP_0003423	
HP:0003426	First dorsal interossei muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1832278			http://purl.obolibrary.org/obo/HP_0003426	
HP:0003427	Thenar muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C1832276			http://purl.obolibrary.org/obo/HP_0003427	
HP:0003429	CNS hypomyelination	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111007000|UMLS:C0544820|UMLS:C4025616		hypomyelination	http://purl.obolibrary.org/obo/HP_0003429	Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
HP:0003431	Decreased motor nerve conduction velocity	biolink:PhenotypicFeature	hp	UMLS:C1858729		Decreased motor NCV|Decreased motor nerve conduction velocities|Reduced motor nerve conduction velocity	http://purl.obolibrary.org/obo/HP_0003431	A type of decreased nerve conduction velocity that affects the motor neuron.
HP:0003434	Sensory ataxic neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1843859			http://purl.obolibrary.org/obo/HP_0003434	
HP:0003435	Cold-induced hand cramps	biolink:PhenotypicFeature	hp	UMLS:C1832279			http://purl.obolibrary.org/obo/HP_0003435	
HP:0003436	Prolonged miniature endplate currents	biolink:PhenotypicFeature	hp	UMLS:C1864238		Prolonged MEPC|Prolonged MEPP|Prolonged miniature endplate potentials	http://purl.obolibrary.org/obo/HP_0003436	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	biolink:PhenotypicFeature	hp	MSH:D012021|SNOMEDCT_US:274818004|UMLS:C0558845		Absent ankle reflexes	http://purl.obolibrary.org/obo/HP_0003438	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	biolink:PhenotypicFeature	hp	UMLS:C1850558	hposlim_core		http://purl.obolibrary.org/obo/HP_0003440	
HP:0003443	Decreased size of nerve terminals	biolink:PhenotypicFeature	hp	UMLS:C4025615			http://purl.obolibrary.org/obo/HP_0003443	A reduction in the size of nerve terminals.
HP:0003444	EMG: chronic denervation signs	biolink:PhenotypicFeature	hp	UMLS:C4025614			http://purl.obolibrary.org/obo/HP_0003444	Evidence of chronic denervation on electromyography.
HP:0003445	EMG: neuropathic changes	biolink:PhenotypicFeature	hp	UMLS:C4021727		EMG: neurogenic abnormalities|EMG: neurogenic changes|EMG: neurogenic findings	http://purl.obolibrary.org/obo/HP_0003445	The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
HP:0003447	Axonal loss	biolink:PhenotypicFeature	hp	UMLS:C1832338			http://purl.obolibrary.org/obo/HP_0003447	A reduction in the number of axons in the peripheral nervous system.
HP:0003448	Decreased sensory nerve conduction velocity	biolink:PhenotypicFeature	hp	UMLS:C1849148		Decreased sensory NCV|Decreased sensory nerve conduction velocities	http://purl.obolibrary.org/obo/HP_0003448	Reduced speed of conduction of the action potential along a sensory nerve.
HP:0003449	Cold-induced muscle cramps	biolink:PhenotypicFeature	hp	UMLS:C1861675			http://purl.obolibrary.org/obo/HP_0003449	Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.
HP:0003450	Axonal regeneration	biolink:PhenotypicFeature	hp	UMLS:C1854454		Regenerative activity on nerve biopsy	http://purl.obolibrary.org/obo/HP_0003450	The presence of axonal regeneration following a previous axonal lesion.
HP:0003451	Increased rate of premature chromosome condensation	biolink:PhenotypicFeature	hp	UMLS:C4025613			http://purl.obolibrary.org/obo/HP_0003451	An increased rate of premature chromosome condensation.
HP:0003452	Increased serum iron	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165624002|UMLS:C0151900			http://purl.obolibrary.org/obo/HP_0003452	
HP:0003453	Antineutrophil antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C1858981		Antineutrophil antibodies|Neutrophil antibody positive	http://purl.obolibrary.org/obo/HP_0003453	The presence of autoantibodies in the serum that react against neutrophils.
HP:0003454	Platelet antibody positive	biolink:PhenotypicFeature	hp	UMLS:C1858980		Platelet antibody	http://purl.obolibrary.org/obo/HP_0003454	The presence in the serum of autoantibodies directed against thrombocytes.
HP:0003455	Elevated circulating long chain fatty acid concentration	biolink:PhenotypicFeature	hp	UMLS:C1859241		Elevated long chain fatty acids|Elevated serum long-chain fatty acids|Increased serum long-chain fatty acids	http://purl.obolibrary.org/obo/HP_0003455	Increased concentration of long-chain fatty acids in the blood circulation.
HP:0003456	Low urinary cyclic AMP response to PTH administration	biolink:PhenotypicFeature	hp	UMLS:C1864105			http://purl.obolibrary.org/obo/HP_0003456	
HP:0003457	EMG abnormality	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274523007|UMLS:C0476403		Abnormal EMG|Abnormal electromyography finding|EMG abnormalities|Electromyogram abnormal	http://purl.obolibrary.org/obo/HP_0003457	Abnormal results of investigations using electromyography (EMG).
HP:0003458	EMG: myopathic abnormalities	biolink:PhenotypicFeature	hp	UMLS:C4021726		EMG: myopathic changes|EMG: myopathy|Myopathic electromyogram	http://purl.obolibrary.org/obo/HP_0003458	The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
HP:0003459	Polyclonal elevation of IgM	biolink:PhenotypicFeature	hp	UMLS:C4025612			http://purl.obolibrary.org/obo/HP_0003459	A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.
HP:0003460	Decreased circulating total IgA	biolink:PhenotypicFeature	hp	UMLS:C4025611		Decreased total IgA in blood|Total immunoglobulin A deficiency	http://purl.obolibrary.org/obo/HP_0003460	Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
HP:0003461	Increased urinary O-linked sialopeptides	biolink:PhenotypicFeature	hp	UMLS:C1836533			http://purl.obolibrary.org/obo/HP_0003461	Excretion of peptides conjugated to sialic acid in the urine.
HP:0003462	Elevated 8-dehydrocholesterol	biolink:PhenotypicFeature	hp	UMLS:C1840013			http://purl.obolibrary.org/obo/HP_0003462	
HP:0003463	Increased extraneuronal autofluorescent lipopigment	biolink:PhenotypicFeature	hp	UMLS:C1859828		Lipopigment in extraneuronal cells	http://purl.obolibrary.org/obo/HP_0003463	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:0003464	obsolete Abnormal cholesterol homeostasis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003464	
HP:0003465	Elevated 8(9)-cholestenol	biolink:PhenotypicFeature	hp	UMLS:C1840014			http://purl.obolibrary.org/obo/HP_0003465	
HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	biolink:PhenotypicFeature	hp	UMLS:C1968855			http://purl.obolibrary.org/obo/HP_0003466	
HP:0003467	Atlantoaxial instability	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202820009|UMLS:C0410653	hposlim_core		http://purl.obolibrary.org/obo/HP_0003467	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	biolink:PhenotypicFeature	hp	Fyler:4108|SNOMEDCT_US:205043005|SNOMEDCT_US:74877002|UMLS:C0158775|UMLS:C4020839|UMLS:C4020840		Abnormal vertebrae|Abnormality of the vertebrae|Vertebral anomalies|Abnormal vertebral bodies|Multiple vertebral anomalies	http://purl.obolibrary.org/obo/HP_0003468	An abnormality of one or more of the vertebrae.
HP:0003469	Peripheral dysmyelination	biolink:PhenotypicFeature	hp	UMLS:C4025610			http://purl.obolibrary.org/obo/HP_0003469	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	biolink:PhenotypicFeature	hp	MSH:D010243|SNOMEDCT_US:44695005|UMLS:C0522224		Inability to move|Paralysis	http://purl.obolibrary.org/obo/HP_0003470	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:190869004|UMLS:C0151940			http://purl.obolibrary.org/obo/HP_0003472	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	biolink:PhenotypicFeature	hp	UMLS:C0947912		Fatigable weakness of limb muscles|Generalized muscle weakness due to defect at the neuromuscular junction|Myasthenia|Myasthenic weakness|Proximal muscle weakness due to defect at the neuromuscular junction	http://purl.obolibrary.org/obo/HP_0003473	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	Sensory impairment	biolink:PhenotypicFeature	hp	MSH:D006987|SNOMEDCT_US:397974008|SNOMEDCT_US:398026008|SNOMEDCT_US:59073000|UMLS:C0020580		Hypoaesthesia|Hypoesthesia	http://purl.obolibrary.org/obo/HP_0003474	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128208007|SNOMEDCT_US:60703000|UMLS:C0270921|UMLS:C1263857		Axonal neuropathy|Axonal peripheral neuropathy	http://purl.obolibrary.org/obo/HP_0003477	An abnormality characterized by disruption of the normal functioning of peripheral axons.
HP:0003481	Segmental peripheral demyelination/remyelination	biolink:PhenotypicFeature	hp	UMLS:C1843077		Segmental demyelination/remyelination	http://purl.obolibrary.org/obo/HP_0003481	A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
HP:0003482	EMG: axonal abnormality	biolink:PhenotypicFeature	hp	UMLS:C4025609			http://purl.obolibrary.org/obo/HP_0003482	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:713512009|UMLS:C1698196		Decreased arm strength|Weak arm	http://purl.obolibrary.org/obo/HP_0003484	Weakness of the muscles of the arms.
HP:0003487	Babinski sign	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246586009|SNOMEDCT_US:366575004|UMLS:C0034935		Extensor plantar reflexes|Extensor plantar response|Extensor plantar responses|Positive Babinski sign	http://purl.obolibrary.org/obo/HP_0003487	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	biolink:PhenotypicFeature	hp	UMLS:C1867971			http://purl.obolibrary.org/obo/HP_0003489	
HP:0003490	obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003490	
HP:0003491	Elevated urine pyrophosphate	biolink:PhenotypicFeature	hp	UMLS:C4025607			http://purl.obolibrary.org/obo/HP_0003491	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	biolink:PhenotypicFeature	hp	UMLS:C4025606			http://purl.obolibrary.org/obo/HP_0003492	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165850001|UMLS:C0151480		Antinuclear antibodies|Antinuclear antibody positive|Elevated antinuclear antibody|Serum antinuclear antibody	http://purl.obolibrary.org/obo/HP_0003493	The presence of autoantibodies in the serum that react against nuclei or nuclear components.
HP:0003494	obsolete Loss of heterozygosity, multiple chromosomes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003494	
HP:0003495	GM2-ganglioside accumulation	biolink:PhenotypicFeature	hp	UMLS:C1848920			http://purl.obolibrary.org/obo/HP_0003495	Cellular accumulation of GM2 gangliosides.
HP:0003496	Increased circulating IgM level	biolink:PhenotypicFeature	hp	UMLS:C1839972		Increased IgM levels|Increased levels of IgM	http://purl.obolibrary.org/obo/HP_0003496	An abnormally increased level of immunoglobulin M in blood.
HP:0003498	Disproportionate short stature	biolink:PhenotypicFeature	hp	UMLS:C0878659|UMLS:C1846797		Short stature, disproportionate|Short stature, severe disproportionate	http://purl.obolibrary.org/obo/HP_0003498	A kind of short stature in which different regions of the body are shortened to differing extents.
HP:0003502	Mild short stature	biolink:PhenotypicFeature	hp	UMLS:C3150077|UMLS:C4020838		short stature, mild|Relative short stature	http://purl.obolibrary.org/obo/HP_0003502	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	biolink:PhenotypicFeature	hp	UMLS:C0878660		Proportionate small stature|Short stature, proportionate	http://purl.obolibrary.org/obo/HP_0003508	A kind of short stature in which different regions of the body are shortened to a comparable extent.
HP:0003510	Severe short stature	biolink:PhenotypicFeature	hp	MSH:D004392|SNOMEDCT_US:237836003|SNOMEDCT_US:237837007|SNOMEDCT_US:422065006|UMLS:C0013336		Dwarfism|Proportionate dwarfism|Severe short stature|Short stature, severe|Short stature, extreme	http://purl.obolibrary.org/obo/HP_0003510	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	biolink:PhenotypicFeature	hp	UMLS:C4025605		Reduced ration of renal Ca clearance to creatinine clearance|Reduced ration of renal Ca2+ to creatinine clearance|Reduced ration of kidney calcium clearance to creatinine clearance	http://purl.obolibrary.org/obo/HP_0003513	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)	biolink:PhenotypicFeature	hp	UMLS:C1844390		Deficiency or absence of cytochrome b	http://purl.obolibrary.org/obo/HP_0003514	
HP:0003517	Birth length greater than 97th percentile	biolink:PhenotypicFeature	hp	UMLS:C1839271		Fetal overgrowth	http://purl.obolibrary.org/obo/HP_0003517	
HP:0003521	Disproportionate short-trunk short stature	biolink:PhenotypicFeature	hp	UMLS:C1846435		Disproportionate short-trunked dwarfism|Disproportionate short-trunked short stature|Short-trunked dwarfism	http://purl.obolibrary.org/obo/HP_0003521	A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
HP:0003524	Decreased methionine synthase activity	biolink:PhenotypicFeature	hp	UMLS:C1848580		Decreased activity of methionine synthase|Methionine synthase activity decreased|Methionine synthase deficiency|Reduced methionine synthase activity	http://purl.obolibrary.org/obo/HP_0003524	A reduction in methionine synthase activity.
HP:0003526	Orotic acid crystalluria	biolink:PhenotypicFeature	hp	UMLS:C3278626			http://purl.obolibrary.org/obo/HP_0003526	Formation of crystals owing to an increased concentration of orotic acid in the urine.
HP:0003527	Hyperprostaglandinuria	biolink:PhenotypicFeature	hp	UMLS:C1866498		High urine prostaglandin levels	http://purl.obolibrary.org/obo/HP_0003527	An increased concentration of prostaglandin in the urine.
HP:0003528	Elevated calcitonin	biolink:PhenotypicFeature	hp	UMLS:C1868394		Elevated calcitonin	http://purl.obolibrary.org/obo/HP_0003528	
HP:0003529	Parathormone-independent increased renal tubular calcium reabsorption	biolink:PhenotypicFeature	hp	UMLS:C4025604		Parathormone-independent increased renal tubular Ca reabsorption|Parathormone-independent increased renal tubular Ca2+ reabsorption	http://purl.obolibrary.org/obo/HP_0003529	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	biolink:PhenotypicFeature	hp	UMLS:C4025603		Glutarate acidemia|Glutaric acidemia	http://purl.obolibrary.org/obo/HP_0003530	An increased concentration of glutaric acid in the blood.
HP:0003532	Ornithinuria	biolink:PhenotypicFeature	hp	UMLS:C4025602			http://purl.obolibrary.org/obo/HP_0003532	An increased concentration of ornithine in the urine.
HP:0003533	Reduced acetaldehyde dehydrogenase level	biolink:PhenotypicFeature	hp	UMLS:C4025601		Delayed oxidation of acetaldehyde	http://purl.obolibrary.org/obo/HP_0003533	Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.
HP:0003534	Reduced xanthine dehydrogenase level	biolink:PhenotypicFeature	hp	MSH:C562584|SNOMEDCT_US:124147007|SNOMEDCT_US:72682008|UMLS:C0268118|UMLS:C4025600		Xanthine dehydrogenase deficiency	http://purl.obolibrary.org/obo/HP_0003534	An abnormal reduction in xanthine dehydrogenase level.
HP:0003535	3-Methylglutaconic aciduria	biolink:PhenotypicFeature	hp	MSH:C579867|SNOMEDCT_US:237950009|UMLS:C3696376		3-Methylglutaconicaciduria	http://purl.obolibrary.org/obo/HP_0003535	An increased amount of 3-methylglutaconic acid in the urine.
HP:0003536	Decreased fumarate hydratase activity	biolink:PhenotypicFeature	hp	UMLS:C1853903			http://purl.obolibrary.org/obo/HP_0003536	An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.
HP:0003537	Hypouricemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4519003|UMLS:C0221333		Low blood uric acid levels	http://purl.obolibrary.org/obo/HP_0003537	An abnormally low level of uric acid in the blood.
HP:0003538	Increased serum iduronate sulfatase level	biolink:PhenotypicFeature	hp	UMLS:C2673363|UMLS:C4025599		Increased serum iduronate sulfatase	http://purl.obolibrary.org/obo/HP_0003538	An increased level of iduronate-2-sulfatase activity in the blood.
HP:0003540	Impaired platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C1855853		Defective platelet aggregation|Deficient platelet aggregation|Platelet aggregation defect	http://purl.obolibrary.org/obo/HP_0003540	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	biolink:PhenotypicFeature	hp	UMLS:C4025598			http://purl.obolibrary.org/obo/HP_0003541	Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.
HP:0003542	Increased serum pyruvate	biolink:PhenotypicFeature	hp	UMLS:C1849488		Increased serum pyruvic acid	http://purl.obolibrary.org/obo/HP_0003542	An increased concentration of pyruvate in the blood.
HP:0003546	Exercise intolerance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:267044007|UMLS:C0424551		Decreased ability to exercise|Inability to exercise|Low exercise endurance|Poor exercise tolerance	http://purl.obolibrary.org/obo/HP_0003546	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249940002|UMLS:C0427063|UMLS:C0748691		Weak shoulder muscles|Muscle weakness, shoulder-girdle|Shoulder girdle weakness|Shoulder weakness	http://purl.obolibrary.org/obo/HP_0003547	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	biolink:PhenotypicFeature	hp	UMLS:C4025597			http://purl.obolibrary.org/obo/HP_0003548	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	biolink:PhenotypicFeature	hp	UMLS:C4025596			http://purl.obolibrary.org/obo/HP_0003549	Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
HP:0003550	Predominantly lower limb lymphedema	biolink:PhenotypicFeature	hp	UMLS:C1835228			http://purl.obolibrary.org/obo/HP_0003550	Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
HP:0003551	Difficulty climbing stairs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:282195009|UMLS:C0239067		Difficulty walking up stairs	http://purl.obolibrary.org/obo/HP_0003551	Reduced ability to climb stairs.
HP:0003552	Muscle stiffness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16046003|UMLS:C0221170			http://purl.obolibrary.org/obo/HP_0003552	A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
HP:0003553	obsolete Cellulitis due to immunodeficiency	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003553	
HP:0003554	Type 2 muscle fiber atrophy	biolink:PhenotypicFeature	hp	UMLS:C1864580		Type 2 muscle fibre atrophy|Type 2 fiber atrophy	http://purl.obolibrary.org/obo/HP_0003554	Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
HP:0003555	Muscle fiber splitting	biolink:PhenotypicFeature	hp	UMLS:C1836057		Fiber splitting|Fibre splitting|Muscle fibre splitting	http://purl.obolibrary.org/obo/HP_0003555	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	biolink:PhenotypicFeature	hp	UMLS:C1843700		Increased variability in muscle fibre diameter|Increased fiber size variation|Increased variability in muscle fiber size|Increased variation in fiber size|Increased variation in muscle fiber size|Variation in muscle fiber size	http://purl.obolibrary.org/obo/HP_0003557	An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
HP:0003558	Viral infection-induced rhabdomyolysis	biolink:PhenotypicFeature	hp	UMLS:C4025595			http://purl.obolibrary.org/obo/HP_0003558	Rhabdomyolysis induced by a viral infection.
HP:0003559	Muscle hyperirritability	biolink:PhenotypicFeature	hp	UMLS:C1853701			http://purl.obolibrary.org/obo/HP_0003559	
HP:0003560	Muscular dystrophy	biolink:PhenotypicFeature	hp	MSH:D009136|SNOMEDCT_US:193225000|SNOMEDCT_US:73297009|UMLS:C0026850|UMLS:C1864711		Muscle biopsy shows dystrophic changes	http://purl.obolibrary.org/obo/HP_0003560	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	biolink:PhenotypicFeature	hp	UMLS:C1855650		Birth length < 3rd percentile|Birth length <3rd percentile	http://purl.obolibrary.org/obo/HP_0003561	
HP:0003562	Abnormal metaphyseal vascular invasion	biolink:PhenotypicFeature	hp	UMLS:C3277127			http://purl.obolibrary.org/obo/HP_0003562	
HP:0003563	Decreased LDL cholesterol concentration	biolink:PhenotypicFeature	hp	MSH:D006995|SNOMEDCT_US:190786004|UMLS:C0020597|UMLS:C0853085		Decreased LDLc concentration|Decreased LDL|Decreased circulating low-density lipoprotein levels|Hypobetalipoproteinemia	http://purl.obolibrary.org/obo/HP_0003563	An decreased concentration of low-density lipoprotein cholesterol in the blood.
HP:0003564	Folate-dependent fragile site at Xq28	biolink:PhenotypicFeature	hp	UMLS:C1839785			http://purl.obolibrary.org/obo/HP_0003564	The presence of a folate sensitive fragile site at chromosome Xq28.
HP:0003565	Elevated erythrocyte sedimentation rate	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165468009|UMLS:C0151632		Elevated ESR|High ESR|Elevated sedimentation rate|High erythrocyte sedimentation rate|Increased erythrocyte sedimentation rate|Raised erythrocyte sedimentation rate	http://purl.obolibrary.org/obo/HP_0003565	An increased erythrocyte sedimentation rate (ESR). The 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.
HP:0003566	Increased serum prostaglandin E2	biolink:PhenotypicFeature	hp	UMLS:C3150358		Elevated prostaglandin E2	http://purl.obolibrary.org/obo/HP_0003566	An increased concentration of prostaglandin E2 in the blood.
HP:0003568	Decreased glucosephosphate isomerase level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124669001|UMLS:C1291611		Decreased glucose phosphate isomerase activity|Glucosephosphate isomerase deficiency|Phosphohexose isomerase deficiency	http://purl.obolibrary.org/obo/HP_0003568	A decreased level of glucose-6-phosphate isomerase.
HP:0003570	Molybdenum cofactor deficiency	biolink:PhenotypicFeature	hp	MSH:C535811|SNOMEDCT_US:29692004|UMLS:C0268119			http://purl.obolibrary.org/obo/HP_0003570	Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.
HP:0003571	Propionic acidemia	biolink:PhenotypicFeature	hp	MSH:D056693|SNOMEDCT_US:124718009|SNOMEDCT_US:69080001|UMLS:C0268579			http://purl.obolibrary.org/obo/HP_0003571	Increased concentration of proprionic acid in the blood circulation.
HP:0003572	Low plasma citrulline	biolink:PhenotypicFeature	hp	UMLS:C1839532			http://purl.obolibrary.org/obo/HP_0003572	A decreased concentration of citrulline in the blood.
HP:0003573	Increased total bilirubin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:176271000119108|UMLS:C0741494		High bili total|Increased bilirubin	http://purl.obolibrary.org/obo/HP_0003573	Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
HP:0003574	Positive regitine blocking test	biolink:PhenotypicFeature	hp	UMLS:C4025594			http://purl.obolibrary.org/obo/HP_0003574	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	biolink:PhenotypicFeature	hp	UMLS:C4025593		High intracellular Na|Increased intracellular Na+ levels	http://purl.obolibrary.org/obo/HP_0003575	An abnormally increased sodium concentration in the cytosol.
HP:0003577	Congenital onset	biolink:PhenotypicFeature	hp	UMLS:C1836142|UMLS:C2752013		Symptoms present at birth|Intrauterine onset|Onset at birth|Onset in utero|Prenatal onset	http://purl.obolibrary.org/obo/HP_0003577	A phenotypic abnormality that is present at birth.
HP:0003581	Adult onset	biolink:PhenotypicFeature	hp	UMLS:C1853562		Symptoms begin in adulthood|Onset in adulthood|Onset in early adulthood	http://purl.obolibrary.org/obo/HP_0003581	Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
HP:0003584	Late onset	biolink:PhenotypicFeature	hp	UMLS:C4025592			http://purl.obolibrary.org/obo/HP_0003584	A type of adult onset with onset of symptoms after the age of 60 years.
HP:0003587	Insidious onset	biolink:PhenotypicFeature	hp	SNOMEDCT_US:367326009|SNOMEDCT_US:61751001|UMLS:C0332164|UMLS:C1298634		Gradual onset	http://purl.obolibrary.org/obo/HP_0003587	Gradual, very slow onset of disease manifestations.
HP:0003593	Infantile onset	biolink:PhenotypicFeature	hp	UMLS:C1848924		Infantile onset|Onset in first year of life|Onset in infancy	http://purl.obolibrary.org/obo/HP_0003593	Onset of signs or symptoms of disease between 28 days to one year of life.
HP:0003596	Middle age onset	biolink:PhenotypicFeature	hp	UMLS:C1969363			http://purl.obolibrary.org/obo/HP_0003596	A type of adult onset with onset of symptoms at the age of 40 to 60 years.
HP:0003606	Absent urinary urothione	biolink:PhenotypicFeature	hp	UMLS:C4025591			http://purl.obolibrary.org/obo/HP_0003606	Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.
HP:0003607	4-hydroxyphenylacetic aciduria	biolink:PhenotypicFeature	hp	MSH:C535315|UMLS:C1848680			http://purl.obolibrary.org/obo/HP_0003607	Increased concentration of 4-hydroxyphenylacetic acid in the urine.
HP:0003609	Foam cells with lamellar inclusion bodies	biolink:PhenotypicFeature	hp	UMLS:C4025590			http://purl.obolibrary.org/obo/HP_0003609	The presence of foam cells that contain lamellar inclusion bodies.
HP:0003610	Fibroblast metachromasia	biolink:PhenotypicFeature	hp	UMLS:C1835008			http://purl.obolibrary.org/obo/HP_0003610	Increased cytoplasmic staining of fibroblasts with toluidine blue.
HP:0003612	Positive ferric chloride test	biolink:PhenotypicFeature	hp	UMLS:C4025589		Positive FeCl3 test	http://purl.obolibrary.org/obo/HP_0003612	If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.
HP:0003613	Antiphospholipid antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4019436		Antiphospholipid antibodies|Antiphospholipid antibody|Phospholipid antibody positivity	http://purl.obolibrary.org/obo/HP_0003613	The presence of circulating autoantibodies to phospholipids.
HP:0003614	Trimethylaminuria	biolink:PhenotypicFeature	hp	MSH:C536561|SNOMEDCT_US:237959005|UMLS:C0342739		High urine trimethylamine levels	http://purl.obolibrary.org/obo/HP_0003614	Increased concentration of trimethylamine in the urine.
HP:0003616	Premature separation of centromeric heterochromatin	biolink:PhenotypicFeature	hp	UMLS:C1849316			http://purl.obolibrary.org/obo/HP_0003616	
HP:0003621	Juvenile onset	biolink:PhenotypicFeature	hp	UMLS:C4025588		Signs and symptoms begin before 15 years of age	http://purl.obolibrary.org/obo/HP_0003621	Onset of signs or symptoms of disease between the age of 5 and 15 years.
HP:0003623	Neonatal onset	biolink:PhenotypicFeature	hp	UMLS:C1855106		Neonatal onset|Onset in first weeks of life|Onset in neonatal period	http://purl.obolibrary.org/obo/HP_0003623	Onset of signs or symptoms of disease within the first 28 days of life.
HP:0003634	Amyoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205532005|UMLS:C0432185		Absent muscles since birth|Congenital absence of muscles	http://purl.obolibrary.org/obo/HP_0003634	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	biolink:PhenotypicFeature	hp	UMLS:C1837764	hposlim_core	Loss of fat tissue below the skin in limbs|Loss of subcutaneous adipose tissue from extremities	http://purl.obolibrary.org/obo/HP_0003635	Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
HP:0003637	Reduced 4-Hydroxyphenylpyruvate dioxygenase level	biolink:PhenotypicFeature	hp	UMLS:C4025587		Reducted HPPD activity	http://purl.obolibrary.org/obo/HP_0003637	An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase level.
HP:0003639	Elevated urinary epinephrine	biolink:PhenotypicFeature	hp	UMLS:C1868393		Increased urinary epinephrine	http://purl.obolibrary.org/obo/HP_0003639	An increased concentration of adrenaline in the urine.
HP:0003640	Foam cells in visceral organs and CNS	biolink:PhenotypicFeature	hp	UMLS:C1843373			http://purl.obolibrary.org/obo/HP_0003640	
HP:0003641	Hemoglobinuria	biolink:PhenotypicFeature	hp	MSH:D006456|SNOMEDCT_US:68600005|UMLS:C0019048		Hemoglobin in urine	http://purl.obolibrary.org/obo/HP_0003641	The presence of free hemoglobin in the urine.
HP:0003642	Type I transferrin isoform profile	biolink:PhenotypicFeature	hp	UMLS:C1837899		Abnormal isoelectric focusing of serum transferrin, type I pattern|Isoelectric focusing of serum transferrin consistent with CDG type I|Type 1 transferrin isoform profile	http://purl.obolibrary.org/obo/HP_0003642	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	biolink:PhenotypicFeature	hp	MSH:C538141|SNOMEDCT_US:367368009|UMLS:C0268624			http://purl.obolibrary.org/obo/HP_0003643	Abnormally reduced sulfite oxidase level.
HP:0003645	Prolonged partial thromboplastin time	biolink:PhenotypicFeature	hp	SNOMEDCT_US:409675001|UMLS:C0240671		Prolonged PTT|Abnormal partial thromboplastin time|Delayed thromboplastin generation|Partial thromboplastin time prolonged|Prolonged activated partial thromboplastin time	http://purl.obolibrary.org/obo/HP_0003645	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	biolink:PhenotypicFeature	hp	UMLS:C1839865		Increased urine bicarbonate concentration|Increased urine HCO3 concentration	http://purl.obolibrary.org/obo/HP_0003646	Abnormally increased concentration of hydrogencarbonate in the urine.
HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	biolink:PhenotypicFeature	hp	UMLS:C4025586			http://purl.obolibrary.org/obo/HP_0003647	A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.
HP:0003648	Lacticaciduria	biolink:PhenotypicFeature	hp	UMLS:C4025585		High urine lactic acid levels|Increased urine lactate	http://purl.obolibrary.org/obo/HP_0003648	An increased concentration of lactic acid in the urine.
HP:0003649	Abnormality of glycoside metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025584			http://purl.obolibrary.org/obo/HP_0003649	Abnormality of glycoside metabolism.
HP:0003651	Foam cells	biolink:PhenotypicFeature	hp	MSH:D005487|SNOMEDCT_US:16980002|UMLS:C0016390		Foamy histiocytes|Foamy macrophages|Lipid-laden histiocytes|Presence of foam cells	http://purl.obolibrary.org/obo/HP_0003651	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	biolink:PhenotypicFeature	hp	MSH:C564018|UMLS:C1838877		Myoglobinuria, episodic|Myoglobinuria, recurrent	http://purl.obolibrary.org/obo/HP_0003652	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	biolink:PhenotypicFeature	hp	UMLS:C4025583			http://purl.obolibrary.org/obo/HP_0003653	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	biolink:PhenotypicFeature	hp	MSH:D054067|SNOMEDCT_US:77365006|UMLS:C1959620|UMLS:C4025582		Dihydropyrimidine dehydrogenase deficiency	http://purl.obolibrary.org/obo/HP_0003654	An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.
HP:0003655	Reduced level of N-acetylglucosaminyltransferase II	biolink:PhenotypicFeature	hp	UMLS:C4021725		Deficient N-acetylglucosaminyltransferase II	http://purl.obolibrary.org/obo/HP_0003655	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	biolink:PhenotypicFeature	hp	UMLS:C1842710		Decreased lysosomal acid glucosylceramidase activity	http://purl.obolibrary.org/obo/HP_0003656	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	biolink:PhenotypicFeature	hp	UMLS:C1859833			http://purl.obolibrary.org/obo/HP_0003657	
HP:0003658	Hypomethioninemia	biolink:PhenotypicFeature	hp	UMLS:C1848555		Decreased plasma methionine|Decreased serum methionine	http://purl.obolibrary.org/obo/HP_0003658	A decreased concentration of methionine in the blood.
HP:0003665	Amyotrophy of the musculature of the pelvis	biolink:PhenotypicFeature	hp	UMLS:C4025581			http://purl.obolibrary.org/obo/HP_0003665	Muscular atrophy affecting the muscles of the pelvis.
HP:0003674	Onset	biolink:PhenotypicFeature	hp	MSH:D017668|UMLS:C0206132		Age symptoms begin|Age of onset	http://purl.obolibrary.org/obo/HP_0003674	The age group in which disease manifestations appear.
HP:0003676	Progressive	biolink:PhenotypicFeature	hp	SNOMEDCT_US:252157006|SNOMEDCT_US:255314001|UMLS:C0205329|UMLS:C1864985		Worsens with time|Progressive disorder	http://purl.obolibrary.org/obo/HP_0003676	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	biolink:PhenotypicFeature	hp	UMLS:C1854494		Signs and symptoms worsen slowly with time|Slow disease progression|Slow progression|Slowly progressive disorder	http://purl.obolibrary.org/obo/HP_0003677	Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.
HP:0003678	Rapidly progressive	biolink:PhenotypicFeature	hp	UMLS:C1838681|UMLS:C1850776		Worsening quickly|Rapid progression|Rapidly progressive disorder	http://purl.obolibrary.org/obo/HP_0003678	Applies to a disease manifestation that quickly increases in scope or severity over the course of time.
HP:0003679	Pace of progression	biolink:PhenotypicFeature	hp	UMLS:C4025580			http://purl.obolibrary.org/obo/HP_0003679	
HP:0003680	Nonprogressive	biolink:PhenotypicFeature	hp	SNOMEDCT_US:702322003|UMLS:C3839460		Does not worsen|Non-progressive|Nonprogressive course|Nonprogressive disorder|Stationary	http://purl.obolibrary.org/obo/HP_0003680	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	biolink:PhenotypicFeature	hp	UMLS:C1970284			http://purl.obolibrary.org/obo/HP_0003682	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:0003683	Large beaked nose	biolink:PhenotypicFeature	hp	UMLS:C4025579		Large beaked nose	http://purl.obolibrary.org/obo/HP_0003683	
HP:0003687	Centrally nucleated skeletal muscle fibers	biolink:PhenotypicFeature	hp	UMLS:C1842170		Centrally nucleated skeletal muscle fibres|Central nuclei|Centralized nuclei|Centralized sarcomeric nuclei	http://purl.obolibrary.org/obo/HP_0003687	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	biolink:PhenotypicFeature	hp	UMLS:C4021724		Cytochrome C oxidase-negative muscle fibres|Cytochrome c oxidase deficiency in skeletal muscle|Decreased activity of cytochrome C oxidase in muscle tissue|Decreased skeletal muscle cytochrome c oxidase activity	http://purl.obolibrary.org/obo/HP_0003688	An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
HP:0003689	Multiple mitochondrial DNA deletions	biolink:PhenotypicFeature	hp	UMLS:C3277376		Multiple mtDNA deletions	http://purl.obolibrary.org/obo/HP_0003689	The presence of multiple deletions of mitochondrial DNA (mtDNA).
HP:0003690	Limb muscle weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:713514005|UMLS:C0587246		Limb muscle weakness|Limb weakness	http://purl.obolibrary.org/obo/HP_0003690	Reduced strength and weakness of the muscles of the arms and legs.
HP:0003691	Scapular winging	biolink:PhenotypicFeature	hp	MEDDRA:10067628|SNOMEDCT_US:17211005|UMLS:C0240953|UMLS:C4072849	hposlim_core	Winged shoulder blade|Scapula alata|Winged scapulae|Winged scapulas|Scapular weakness	http://purl.obolibrary.org/obo/HP_0003691	Abnormal protrusion of the scapula away from the surface of the back.
HP:0003693	Distal amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C1848736		Distal muscle wasting|Amyotrophy of distal limb muscles|Distal amyotrophy, especially of the hands and feet|Distal limb muscle atrophy|Distal muscle atrophy|Distal muscle atrophy, upper and lower limbs|Distal muscle degeneration|Distal muscular atrophy|Muscle atrophy, distal	http://purl.obolibrary.org/obo/HP_0003693	Muscular atrophy affecting muscles in the distal portions of the extremities.
HP:0003694	Late-onset proximal muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C4025578			http://purl.obolibrary.org/obo/HP_0003694	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	biolink:PhenotypicFeature	hp	UMLS:C4025577		Absent end part of the outermost bone of the little finger|Absent end part of the outermost bone of the pinkie finger|Absent end part of the outermost bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0003696	Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.
HP:0003697	Scapuloperoneal amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C1842162		Scapuloperoneal atrophy	http://purl.obolibrary.org/obo/HP_0003697	Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.
HP:0003698	Difficulty standing	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249902000|UMLS:C0241237		Difficulty in standing|Standing instability	http://purl.obolibrary.org/obo/HP_0003698	
HP:0003700	Generalized amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C1389113		Diffuse skeletal muscle wasting|Generalized muscle degeneration|Muscle atrophy, generalized|Generalised amyotrophy|Diffuse amyotrophy|Diffuse muscle atrophy|Diffuse muscle wasting|Generalized muscle atrophy|Muscle atrophy, diffuse|Muscular atrophy, generalized	http://purl.obolibrary.org/obo/HP_0003700	Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
HP:0003701	Proximal muscle weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249939004|UMLS:C0221629|UMLS:C1838869		Weakness in muscles of upper arms and upper legs|Proximal neurogenic muscle weakness|Muscle weakness, proximal|Proximal limb muscle weakness|Proximal limb weakness	http://purl.obolibrary.org/obo/HP_0003701	A lack of strength of the proximal muscles.
HP:0003704	Scapuloperoneal weakness	biolink:PhenotypicFeature	hp	UMLS:C1842161		Neurogenic scapuloperoneal syndrome	http://purl.obolibrary.org/obo/HP_0003704	
HP:0003707	Calf muscle pseudohypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1839666		Pseudohypertrophy of the calves	http://purl.obolibrary.org/obo/HP_0003707	Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
HP:0003710	Exercise-induced muscle cramps	biolink:PhenotypicFeature	hp	UMLS:C1855578		Exercise-induced muscle cramping|Exercise-induced muscle cramps|Muscle cramps following exercise|Muscle cramps on exercise|Muscle cramps on exertion|Muscle cramps with exertion	http://purl.obolibrary.org/obo/HP_0003710	Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
HP:0003712	Skeletal muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C2265792		Increased skeletal muscle cells|Hypertrophic muscles|Muscle hypertrophy|Muscular hypertrophy	http://purl.obolibrary.org/obo/HP_0003712	Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).
HP:0003713	Muscle fiber necrosis	biolink:PhenotypicFeature	hp	UMLS:C1850848		Muscle fibre necrosis	http://purl.obolibrary.org/obo/HP_0003713	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	biolink:PhenotypicFeature	hp	MSH:C580316|SNOMEDCT_US:699269005|UMLS:C2678065		Myofibrillar changes	http://purl.obolibrary.org/obo/HP_0003715	Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.
HP:0003716	Generalized muscular appearance from birth	biolink:PhenotypicFeature	hp	UMLS:C1837799		Generalised muscular appearance from birth	http://purl.obolibrary.org/obo/HP_0003716	
HP:0003717	Minimal subcutaneous fat	biolink:PhenotypicFeature	hp	UMLS:C1859442		Minimal fat below the skin	http://purl.obolibrary.org/obo/HP_0003717	
HP:0003719	Muscle mounding	biolink:PhenotypicFeature	hp	UMLS:C1853702			http://purl.obolibrary.org/obo/HP_0003719	
HP:0003720	Generalized muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C3805639		Generalized increase in muscle cell size|Generalised muscle hypertrophy	http://purl.obolibrary.org/obo/HP_0003720	Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.
HP:0003722	Neck flexor weakness	biolink:PhenotypicFeature	hp	UMLS:C1843637		Neck flexion weakness|Neck flexor muscle weakness	http://purl.obolibrary.org/obo/HP_0003722	Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
HP:0003724	Shoulder girdle muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1847766		Shoulder girdle muscle wasting|Shoulder-girdle muscle atrophy|Shoulder girdle atrophy	http://purl.obolibrary.org/obo/HP_0003724	Amyotrophy affecting the muscles of the shoulder girdle.
HP:0003725	Firm muscles	biolink:PhenotypicFeature	hp	UMLS:C1850656			http://purl.obolibrary.org/obo/HP_0003725	
HP:0003729	Enteroviral dermatomyositis syndrome	biolink:PhenotypicFeature	hp	UMLS:C3806660			http://purl.obolibrary.org/obo/HP_0003729	
HP:0003730	EMG: myotonic runs	biolink:PhenotypicFeature	hp	UMLS:C4020837|UMLS:C4025576		EMG: spontaneous, repetitive electrical activity	http://purl.obolibrary.org/obo/HP_0003730	Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
HP:0003731	Quadriceps muscle weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300948004|UMLS:C0577655		Quadriceps weakness	http://purl.obolibrary.org/obo/HP_0003731	Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).
HP:0003733	Thigh hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1846674		Increased thigh size	http://purl.obolibrary.org/obo/HP_0003733	Muscle hypertrophy affecting the thighs.
HP:0003736	Autophagic vacuoles	biolink:PhenotypicFeature	hp	UMLS:C0544966			http://purl.obolibrary.org/obo/HP_0003736	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	biolink:PhenotypicFeature	hp	MSH:D017240|SNOMEDCT_US:16851005|UMLS:C0162670			http://purl.obolibrary.org/obo/HP_0003737	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	biolink:PhenotypicFeature	hp	UMLS:C1850830		Exercise-induced muscle pain|Muscle pain on exercise|Muscle pain with exercise|Muscle pain, exercise-induced	http://purl.obolibrary.org/obo/HP_0003738	The occurrence of an unusually high amount of muscle pain following exercise.
HP:0003739	Myoclonic spasms	biolink:PhenotypicFeature	hp	UMLS:C3806442			http://purl.obolibrary.org/obo/HP_0003739	
HP:0003740	Myotonia with warm-up phenomenon	biolink:PhenotypicFeature	hp	UMLS:C4025575			http://purl.obolibrary.org/obo/HP_0003740	Myotonia that occurs after a period of rest and decreases with continuing exercise.
HP:0003741	Congenital muscular dystrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:240059009|UMLS:C0699743		Muscular dystrophy, congenital	http://purl.obolibrary.org/obo/HP_0003741	
HP:0003743	Genetic anticipation	biolink:PhenotypicFeature	hp	MSH:D020132|UMLS:C0600498			http://purl.obolibrary.org/obo/HP_0003743	A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.
HP:0003744	Genetic anticipation with paternal anticipation bias	biolink:PhenotypicFeature	hp	UMLS:C1834002|UMLS:C4025574		Paternal anticipation bias	http://purl.obolibrary.org/obo/HP_0003744	A type of genetic anticipation observed predominantly upon transmission from affected males.
HP:0003745	Sporadic	biolink:PhenotypicFeature	hp	UMLS:C1853237		No previous family history|Isolated cases	http://purl.obolibrary.org/obo/HP_0003745	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249941003|UMLS:C0427064		Hip girdle muscle weakness|Hip girdle weakness|Hip-girdle muscle weakness|Pelvic girdle weakness	http://purl.obolibrary.org/obo/HP_0003749	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	biolink:PhenotypicFeature	hp	MSH:D018763|SNOMEDCT_US:80449002|UMLS:C0242979|UMLS:C4025573		Muscle fatigue	http://purl.obolibrary.org/obo/HP_0003750	An abnormal, increased fatiguability of the musculature.
HP:0003752	Episodic flaccid weakness	biolink:PhenotypicFeature	hp	UMLS:C4025572			http://purl.obolibrary.org/obo/HP_0003752	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	biolink:PhenotypicFeature	hp	UMLS:C4025571		Type 1 fibres relatively smaller than type 2 fibres	http://purl.obolibrary.org/obo/HP_0003755	The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.
HP:0003756	Skeletal myopathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75047002|UMLS:C1533847			http://purl.obolibrary.org/obo/HP_0003756	
HP:0003758	Reduced subcutaneous adipose tissue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248316006|UMLS:C0424631|UMLS:C1857657		Reduced fat tissue below the skin|Decreased subcutaneous adipose tissue|Decreased subcutaneous fat|Reduced subcutaneous fat|Scanty adipose tissue	http://purl.obolibrary.org/obo/HP_0003758	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	biolink:PhenotypicFeature	hp	UMLS:C4025570		Underdeveloped lymphatic vessels	http://purl.obolibrary.org/obo/HP_0003759	Congenital underdevelopment of lymph vessels.
HP:0003760	Percussion-induced rapid rolling muscle contractions	biolink:PhenotypicFeature	hp	UMLS:C4280804			http://purl.obolibrary.org/obo/HP_0003760	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	biolink:PhenotypicFeature	hp	MSH:D002114|SNOMEDCT_US:6595006|UMLS:C0006663		Calcium buildup in soft tissues of body	http://purl.obolibrary.org/obo/HP_0003761	Formation of calcium deposits in any soft tissue.
HP:0003762	Uterus didelphys	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15545001|SNOMEDCT_US:22504001|UMLS:C0152240|UMLS:C0266393		Double uterus	http://purl.obolibrary.org/obo/HP_0003762	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	biolink:PhenotypicFeature	hp	MSH:D002012|SNOMEDCT_US:191983006|SNOMEDCT_US:90207007|UMLS:C0006325		Teeth grinding	http://purl.obolibrary.org/obo/HP_0003763	Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
HP:0003764	Nevus	biolink:PhenotypicFeature	hp	MSH:D009506|MSH:D009508|SNOMEDCT_US:21119008|SNOMEDCT_US:400096001|SNOMEDCT_US:51697005|UMLS:C0027960|UMLS:C0027962		Mole|Naevus|Naevi|Nevi	http://purl.obolibrary.org/obo/HP_0003764	A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
HP:0003765	Psoriasiform dermatitis	biolink:PhenotypicFeature	hp	MSH:D011565|SNOMEDCT_US:9014002|UMLS:C0033860		Psoriasis	http://purl.obolibrary.org/obo/HP_0003765	A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
HP:0003768	Periodic paralysis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:198030008|UMLS:C1279412		Episodic paralysis	http://purl.obolibrary.org/obo/HP_0003768	Episodes of muscle weakness.
HP:0003771	Pulp stones	biolink:PhenotypicFeature	hp	MSH:D003784|SNOMEDCT_US:57602001|UMLS:C1527284|UMLS:C4280259|UMLS:C4280546		Pulp stones|Pulp calcifications|Pulp denticles|False denticles|False pulp stones|True denticles|True pulp stones	http://purl.obolibrary.org/obo/HP_0003771	Multiple punctate calcifications in the dental pulp.
HP:0003774	Stage 5 chronic kidney disease	biolink:PhenotypicFeature	hp	SNOMEDCT_US:433146000|UMLS:C2316810		Stage 5 chronic kidney disease|Renal failure, endstage|Chronic renal failure|End stage renal disease|End stage renal failure|End-stage renal disease|End-stage renal failure	http://purl.obolibrary.org/obo/HP_0003774	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	biolink:PhenotypicFeature	hp	MSH:C562485|SNOMEDCT_US:17170005|UMLS:C0263491	hposlim_core	Flattened and twisted hair	http://purl.obolibrary.org/obo/HP_0003777	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	biolink:PhenotypicFeature	hp	UMLS:C1841648|UMLS:C4280545		Decreased size of mandibular ramus|Short body and ramus of mandible|Short mandibular ramus|Underdeveloped mandibular rami|Decreased height of mandibular ramus	http://purl.obolibrary.org/obo/HP_0003778	
HP:0003779	Antegonial notching of mandible	biolink:PhenotypicFeature	hp	UMLS:C1844509		Deep antegonial notch of mandible|Large antegonial notch of mandible	http://purl.obolibrary.org/obo/HP_0003779	
HP:0003781	Excessive salivation	biolink:PhenotypicFeature	hp	MSH:D012798|SNOMEDCT_US:275295002|SNOMEDCT_US:53827007|SNOMEDCT_US:62718007|UMLS:C0013132|UMLS:C0037036		Excessive salivation|Mouth watering|Oversalivation|Watery mouth|Excessive production of saliva|Hypersalivation|Ptyalism	http://purl.obolibrary.org/obo/HP_0003781	Excessive production of saliva.
HP:0003782	Eunuchoid habitus	biolink:PhenotypicFeature	hp	UMLS:C4025569			http://purl.obolibrary.org/obo/HP_0003782	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:0003783	Externally rotated/abducted legs	biolink:PhenotypicFeature	hp	UMLS:C1970461			http://purl.obolibrary.org/obo/HP_0003783	
HP:0003784	Type 1 collagen overmodification	biolink:PhenotypicFeature	hp	UMLS:C1970463			http://purl.obolibrary.org/obo/HP_0003784	
HP:0003785	Decreased CSF homovanillic acid	biolink:PhenotypicFeature	hp	UMLS:C4280803			http://purl.obolibrary.org/obo/HP_0003785	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	biolink:PhenotypicFeature	hp	UMLS:C4025568		Type 1 and type 2 muscle fibre minicore regions	http://purl.obolibrary.org/obo/HP_0003787	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	biolink:PhenotypicFeature	hp	MSH:C564969|UMLS:C1850674			http://purl.obolibrary.org/obo/HP_0003789	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	biolink:PhenotypicFeature	hp	UMLS:C1853934			http://purl.obolibrary.org/obo/HP_0003791	
HP:0003795	Short middle phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021723		Short middle bones (feet)|Short middle phalanges of toes	http://purl.obolibrary.org/obo/HP_0003795	Developmental hypoplasia (shortening) of middle phalanx of toe.
HP:0003796	Irregular iliac crest	biolink:PhenotypicFeature	hp	UMLS:C1855180			http://purl.obolibrary.org/obo/HP_0003796	Irregularity of the iliac crest, which is the superior border of the wing of the ilium.
HP:0003797	Limb-girdle muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1404521|UMLS:C1842552		Wasting of limb-girdle muscle|Limb-girdle myopathy	http://purl.obolibrary.org/obo/HP_0003797	Muscular atrophy affecting the muscles of the limb girdle.
HP:0003798	Nemaline bodies	biolink:PhenotypicFeature	hp	UMLS:C3808039		Nemaline rods	http://purl.obolibrary.org/obo/HP_0003798	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	biolink:PhenotypicFeature	hp	UMLS:C1868549		Marked delay in bone age|Markedly retarded bone age|Marked retardation in skeletal maturation	http://purl.obolibrary.org/obo/HP_0003799	
HP:0003800	Muscle abnormality related to mitochondrial dysfunction	biolink:PhenotypicFeature	hp	UMLS:C4025566			http://purl.obolibrary.org/obo/HP_0003800	
HP:0003803	Type 1 muscle fiber predominance	biolink:PhenotypicFeature	hp	UMLS:C1854387		Type 1 muscle fibre predominance|Type I muscle fiber predominance	http://purl.obolibrary.org/obo/HP_0003803	An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
HP:0003805	Rimmed vacuoles	biolink:PhenotypicFeature	hp	UMLS:C1853932		'rimmed vacuoles' on biopsy|'rimmed' vacuoles on biopsy	http://purl.obolibrary.org/obo/HP_0003805	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	biolink:PhenotypicFeature	hp	UMLS:C0852413		Abnormal muscle tone	http://purl.obolibrary.org/obo/HP_0003808	
HP:0003809	Reduced intrathoracic adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C1837797			http://purl.obolibrary.org/obo/HP_0003809	An abnormally reduced amount of adipose tissue in the thoracic cavity.
HP:0003810	Late-onset distal muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C4025565			http://purl.obolibrary.org/obo/HP_0003810	
HP:0003811	Neonatal death	biolink:PhenotypicFeature	hp	MSH:D066087|SNOMEDCT_US:276506001|UMLS:C0410916		Neonatal lethal	http://purl.obolibrary.org/obo/HP_0003811	Death within the first 28 days of life.
HP:0003812	Phenotypic variability	biolink:PhenotypicFeature	hp	UMLS:C1837514|UMLS:C1839039|UMLS:C1850667|UMLS:C1866210		Clinical heterogeneity|Highly variable clinical phenotype|Highly variable phenotype|Highly variable phenotype and severity|Highly variable phenotype, even within families|Variable phenotype|Variable phenotypic severity	http://purl.obolibrary.org/obo/HP_0003812	A variability of phenotypic features.
HP:0003819	Death in childhood	biolink:PhenotypicFeature	hp	UMLS:C1843392		Death in childhood	http://purl.obolibrary.org/obo/HP_0003819	Death in during childhood, defined here as between the ages of 2 and 10 years.
HP:0003826	Stillbirth	biolink:PhenotypicFeature	hp	MSH:D005313|MSH:D050497|SNOMEDCT_US:237364002|SNOMEDCT_US:276507005|UMLS:C0015927|UMLS:C0595939		Stillbirth|Stillborn|Fetal death	http://purl.obolibrary.org/obo/HP_0003826	Death of the fetus in utero after at least 20 weeks of gestation.
HP:0003828	Variable expressivity	biolink:PhenotypicFeature	hp	UMLS:C1861403|UMLS:C1866862		Variable severity|Highly variable severity	http://purl.obolibrary.org/obo/HP_0003828	A variable severity of phenotypic features.
HP:0003829	Incomplete penetrance	biolink:PhenotypicFeature	hp	UMLS:C1836598		Reduced penetrance	http://purl.obolibrary.org/obo/HP_0003829	A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.
HP:0003831	Age-dependent penetrance	biolink:PhenotypicFeature	hp	UMLS:C1835978		Age dependent penetrance	http://purl.obolibrary.org/obo/HP_0003831	A situation in which phenotypic abnormalities become evident with age.
HP:0003832	Abnormality of the tibial plateaux	biolink:PhenotypicFeature	hp	UMLS:C4025564			http://purl.obolibrary.org/obo/HP_0003832	
HP:0003833	Laterally deficient tibial plateaux	biolink:PhenotypicFeature	hp	UMLS:C4025563			http://purl.obolibrary.org/obo/HP_0003833	
HP:0003834	Shoulder dislocation	biolink:PhenotypicFeature	hp	MSH:D012783|SNOMEDCT_US:125615005|SNOMEDCT_US:417076003|UMLS:C0037005		Shoulder dislocation	http://purl.obolibrary.org/obo/HP_0003834	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:263051004|UMLS:C0434744		Partial shoulder dislocation	http://purl.obolibrary.org/obo/HP_0003835	A partial dislocation of the shoulder joint.
HP:0003836	Stippled calcification of the shoulder	biolink:PhenotypicFeature	hp	UMLS:C4025562			http://purl.obolibrary.org/obo/HP_0003836	
HP:0003837	Soft-tissue ossification around the shoulders	biolink:PhenotypicFeature	hp	UMLS:C4025561		Calcification of the soft-tissue around the shoulders	http://purl.obolibrary.org/obo/HP_0003837	Formation of calcified tissue in the soft tissues surrounding the shoulder.
HP:0003839	Abnormality of upper limb epiphysis morphology	biolink:PhenotypicFeature	hp	UMLS:C4021722		Abnormal shape of end part of upper limb long bones|Abnormality involving the epiphyses of the upper limbs|Epihyseal plate abnormality of the upper limbs	http://purl.obolibrary.org/obo/HP_0003839	
HP:0003840	Delayed upper limb epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C4025560|UMLS:C4280544		Delayed maturation fo the end part of the upper limb bone	http://purl.obolibrary.org/obo/HP_0003840	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	biolink:PhenotypicFeature	hp	UMLS:C4025559		Fragmented end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003841	
HP:0003842	Irregular epiphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025558		Irregular end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003842	
HP:0003843	Round epiphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025557		Round end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003843	
HP:0003844	Small epiphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025556		Small end part of upper limb bones	http://purl.obolibrary.org/obo/HP_0003844	
HP:0003846	Wide epiphyseal plates of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4020913		Broad growth plates of upper limbs|Broad epiphyseal plates of the upper limbs	http://purl.obolibrary.org/obo/HP_0003846	
HP:0003848	Cupped metaphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025555		Cupped wide portion of the upper limb bone	http://purl.obolibrary.org/obo/HP_0003848	
HP:0003849	Flared upper limb metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021721		Flared wide portion of the upper limb bone|Flared metaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003849	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	biolink:PhenotypicFeature	hp	UMLS:C4021720		Irregular wide portion of upper limb bones|Irregular metaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003850	
HP:0003851	Lytic defects in metaphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025554			http://purl.obolibrary.org/obo/HP_0003851	
HP:0003852	Normal density transverse bands in metaphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025553			http://purl.obolibrary.org/obo/HP_0003852	
HP:0003853	Sclerosis with transverse striations in metaphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025552			http://purl.obolibrary.org/obo/HP_0003853	
HP:0003854	Sclerosis of metaphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025551		Increased bone density in wide portion of the upper limb bones	http://purl.obolibrary.org/obo/HP_0003854	
HP:0003855	Spurred metaphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025550		Spurred wide portion of upper limb bone	http://purl.obolibrary.org/obo/HP_0003855	
HP:0003856	Upper limb metaphyseal widening	biolink:PhenotypicFeature	hp	UMLS:C4021719		Broad wide portion of upper limb bone|Wide/broad metaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003856	Increased width (breadth) of metaphyses of the arms.
HP:0003858	Cortical diaphyseal irregularity of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025549			http://purl.obolibrary.org/obo/HP_0003858	
HP:0003859	Cortical diaphyseal thickening of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025548			http://purl.obolibrary.org/obo/HP_0003859	
HP:0003860	Diaphyseal sclerosis of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025547		Increased bone density in central part of long bone of upper limbs	http://purl.obolibrary.org/obo/HP_0003860	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	biolink:PhenotypicFeature	hp	UMLS:C4021718		Broad shaft of long bone of the upper limbs|Wide shaft of long bone of the upper limbs|Wide diaphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003861	
HP:0003862	Absent humerus	biolink:PhenotypicFeature	hp	UMLS:C2678399	hposlim_core	Absent long bone in upper arm|Aplasia of the humerus|Aplastic humerus	http://purl.obolibrary.org/obo/HP_0003862	Missing humerus bone associated with congenital failure of development.
HP:0003863	Angulated humerus	biolink:PhenotypicFeature	hp	UMLS:C4025546		Angulated long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003863	
HP:0003864	Bifid humerus	biolink:PhenotypicFeature	hp	UMLS:C4025545		Notched long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003864	Clefting affecting the humerus.
HP:0003865	Bowed humerus	biolink:PhenotypicFeature	hp	UMLS:C1859460	hposlim_core	Bowed long bone in upper arm|Bowing of the humerus|Humeral bowing	http://purl.obolibrary.org/obo/HP_0003865	A bending or abnormal curvature of the humerus.
HP:0003866	Coarse humeral trabeculae	biolink:PhenotypicFeature	hp	UMLS:C4025544			http://purl.obolibrary.org/obo/HP_0003866	
HP:0003867	Humeral cortical irregularity	biolink:PhenotypicFeature	hp	UMLS:C4025543			http://purl.obolibrary.org/obo/HP_0003867	
HP:0003868	Humeral cortical thickening	biolink:PhenotypicFeature	hp	UMLS:C4025542			http://purl.obolibrary.org/obo/HP_0003868	
HP:0003869	Humeral cortical thinning	biolink:PhenotypicFeature	hp	UMLS:C4025541			http://purl.obolibrary.org/obo/HP_0003869	
HP:0003870	Crumpled humerus	biolink:PhenotypicFeature	hp	UMLS:C4025540		Crumpled long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003870	
HP:0003871	Deformed humerus	biolink:PhenotypicFeature	hp	UMLS:C4025539		Deformed long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003871	
HP:0003872	Humeral exostoses	biolink:PhenotypicFeature	hp	UMLS:C4025538			http://purl.obolibrary.org/obo/HP_0003872	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	biolink:PhenotypicFeature	hp	UMLS:C4025537	hposlim_core		http://purl.obolibrary.org/obo/HP_0003874	
HP:0003875	Humeral lytic defects	biolink:PhenotypicFeature	hp	UMLS:C4025536		Lytic defects of the humerus	http://purl.obolibrary.org/obo/HP_0003875	Destruction of an area of humerus bone due to a disease process, such as cancer.
HP:0003876	Osteoporotic humerus	biolink:PhenotypicFeature	hp	UMLS:C4025535			http://purl.obolibrary.org/obo/HP_0003876	
HP:0003877	Oval transradiancy of humerus	biolink:PhenotypicFeature	hp	UMLS:C4025534		Humeral oval transradiancy	http://purl.obolibrary.org/obo/HP_0003877	
HP:0003878	Periosteal new bone of humerus	biolink:PhenotypicFeature	hp	UMLS:C4025533			http://purl.obolibrary.org/obo/HP_0003878	
HP:0003879	Humeral pseudarthrosis	biolink:PhenotypicFeature	hp	UMLS:C4025532		False joint (long bone in upper arm)	http://purl.obolibrary.org/obo/HP_0003879	
HP:0003880	Sclerotic foci of the humerus	biolink:PhenotypicFeature	hp	UMLS:C4021717		Humeral sclerotic foci	http://purl.obolibrary.org/obo/HP_0003880	
HP:0003881	Humeral sclerosis	biolink:PhenotypicFeature	hp	UMLS:C4021716		Increased bone density in long bone of upper arm|Sclerosis of humerus	http://purl.obolibrary.org/obo/HP_0003881	
HP:0003882	Slender humerus	biolink:PhenotypicFeature	hp	UMLS:C4021851		Slender long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003882	Reduction in diameter of the humerus.
HP:0003883	Tapered humerus	biolink:PhenotypicFeature	hp	UMLS:C4025531		Tapered long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003883	
HP:0003884	Triangular humerus	biolink:PhenotypicFeature	hp	UMLS:C4025530		Triangular long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003884	
HP:0003885	Undermodeled humerus	biolink:PhenotypicFeature	hp	UMLS:C4025529			http://purl.obolibrary.org/obo/HP_0003885	
HP:0003886	Wide humerus	biolink:PhenotypicFeature	hp	UMLS:C4021715		Wide long bone of upper arm|Broad humerus	http://purl.obolibrary.org/obo/HP_0003886	
HP:0003887	Abnormality of the humeral heads	biolink:PhenotypicFeature	hp	UMLS:C4025528		Abnormal head of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003887	
HP:0003888	Flattened humeral heads	biolink:PhenotypicFeature	hp	UMLS:C3808869		Flattended head of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003888	
HP:0003889	Abnormality of the deltoid tuberosities	biolink:PhenotypicFeature	hp	UMLS:C4025527			http://purl.obolibrary.org/obo/HP_0003889	
HP:0003890	Prominent deltoid tuberosities	biolink:PhenotypicFeature	hp	UMLS:C2674600			http://purl.obolibrary.org/obo/HP_0003890	
HP:0003891	Abnormality of the humeral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4021714		Abnormality of end part of the long bone of the upper arm|Abnormality of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003891	An anomaly of the humeral epiphysis.
HP:0003892	Absent humeral epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C4021713		Absent maturation of end part of long bone in upper arm|Absent ossification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003892	Lack of formation of bone in the epiphysis of the humerus.
HP:0003893	Advanced ossification of the humeral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4020836|UMLS:C4025526		Accelerated maturation of end part of long bone in upper arm|Advanced maturation of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003893	Ossification of the humeral epiphysis at an earlier age than normal.
HP:0003894	Delayed humeral epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C4021712|UMLS:C4280543		Delayed maturation of the end part of the long bone in upper arm|Delayed maturation/delayed ossification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003894	A delay in the process of formation and maturation of the humeral epiphysis.
HP:0003895	Flattened humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025525		Flattened end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003895	
HP:0003896	Irregular humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025524		Irregular end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003896	
HP:0003897	Irregular ossification of the humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025523|UMLS:C4280542		Irregular maturation of the end part of the long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003897	
HP:0003898	Large humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025522		Large end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003898	
HP:0003899	Round humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025521		Round end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003899	
HP:0003900	Small humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025520		Small end part of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003900	
HP:0003901	Stippled calcification of the humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025519			http://purl.obolibrary.org/obo/HP_0003901	
HP:0003902	Epiphyseal stippling of the humerus	biolink:PhenotypicFeature	hp	UMLS:C4021711		Stippled ossification of the humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003902	The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.
HP:0003903	Broad humeral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4021710		Wide end part of long bone in upper arm|Wide humeral epiphyses	http://purl.obolibrary.org/obo/HP_0003903	Increased width of the humeral epiphysis.
HP:0003904	Wide epiphyses of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4021709		Wide end part of upper limb bones|Broad epiphyses of the upper limbs	http://purl.obolibrary.org/obo/HP_0003904	
HP:0003905	Abnormality of the humeral epiphyseal plate	biolink:PhenotypicFeature	hp	UMLS:C4025518|UMLS:C4280541		Abnormality of arm long bone growth plate	http://purl.obolibrary.org/obo/HP_0003905	
HP:0003906	Broad humeral epiphyseal plate	biolink:PhenotypicFeature	hp	UMLS:C4021708|UMLS:C4280540		Wide long bone of arm growth plate|Wide humeral epiphyseal plate	http://purl.obolibrary.org/obo/HP_0003906	Increased width of the humeral epiphyseal growth plate.
HP:0003907	Abnormality of the humeral metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025517		Abnormality of the wide portion of the long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003907	
HP:0003908	Corner fracture of metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025516		Bucket handle fracture|Metaphyseal corner fracture	http://purl.obolibrary.org/obo/HP_0003908	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	biolink:PhenotypicFeature	hp	UMLS:C4025515			http://purl.obolibrary.org/obo/HP_0003909	
HP:0003910	Enlarged humeral metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4021707		Enlarged wide portion of long bone of upper arm|Expanded humeral metaphyses	http://purl.obolibrary.org/obo/HP_0003910	
HP:0003911	Flared humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4020835|UMLS:C4020912		Flared wide portion of long bone of upper arm|Wide/broad humeral metaphysis|Flared humerus	http://purl.obolibrary.org/obo/HP_0003911	Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
HP:0003912	Frayed humeral metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025514			http://purl.obolibrary.org/obo/HP_0003912	
HP:0003913	Humeral metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4021706		Irregular wide portion of long bone in upper arm|Irregular humeral metaphyses	http://purl.obolibrary.org/obo/HP_0003913	
HP:0003914	Irregular ossification of humeral metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025513		Irregular bone maturation of the wide portion of the long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003914	
HP:0003915	Lytic defects of the humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025512			http://purl.obolibrary.org/obo/HP_0003915	
HP:0003916	Normal-density transverse humeral bands	biolink:PhenotypicFeature	hp	UMLS:C4025511			http://purl.obolibrary.org/obo/HP_0003916	
HP:0003917	Pointed humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025510		Pointed wide portion of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003917	
HP:0003918	Sclerotic humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025509		Hardening of wide portion of long bone of upper arm|Stiffening of wide portion of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003918	
HP:0003919	Sclerotic humeral metaphysis with longitudinal striations	biolink:PhenotypicFeature	hp	UMLS:C4025508			http://purl.obolibrary.org/obo/HP_0003919	
HP:0003920	Sloping humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025507		Sloping metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003920	
HP:0003921	Laterally sloping humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025506		Laterally sloping metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003921	
HP:0003922	Spurred humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025505		Spurred metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003922	
HP:0003923	Square humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025504		Square metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003923	
HP:0003924	Stippled calcification of humeral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025503		Speckled calcification in metaphysis of long bone of upper arm	http://purl.obolibrary.org/obo/HP_0003924	
HP:0003926	Abnormality of the humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025502		Abnormality of shaft of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003926	An anomaly of the humeral diaphysis.
HP:0003927	Cortical irregularity of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025501			http://purl.obolibrary.org/obo/HP_0003927	An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.
HP:0003928	Cortical thickening of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025500			http://purl.obolibrary.org/obo/HP_0003928	
HP:0003929	Ground glass opacity of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025499			http://purl.obolibrary.org/obo/HP_0003929	
HP:0003930	Lytic defects of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021705		Humeral diaphyseal lysis	http://purl.obolibrary.org/obo/HP_0003930	
HP:0003931	Periosteal new bone of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025498			http://purl.obolibrary.org/obo/HP_0003931	
HP:0003932	Sclerotic foci of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025497			http://purl.obolibrary.org/obo/HP_0003932	
HP:0003933	Sclerosis of humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025496		Increased bone density in shaft of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003933	
HP:0003934	Slender humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025495		Slender shaft of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0003934	
HP:0003935	Wide humeral diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021704		Broad shaft of long bone in upper arm|Wide shaft of long bone in upper arm|Broad humeral diaphysis	http://purl.obolibrary.org/obo/HP_0003935	Increased width of the humeral diaphysis.
HP:0003938	Synostosis involving the elbow	biolink:PhenotypicFeature	hp	UMLS:C4025494		Bone fusion involving the elbow	http://purl.obolibrary.org/obo/HP_0003938	
HP:0003939	Humeroulnar synostosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205330003|UMLS:C0431799		Humeral ulnar synostosis	http://purl.obolibrary.org/obo/HP_0003939	An abnormal osseous union (fusion) between the ulna and the humerus.
HP:0003940	Osteoarthritis of the elbow	biolink:PhenotypicFeature	hp	SNOMEDCT_US:239866002|UMLS:C0409954			http://purl.obolibrary.org/obo/HP_0003940	
HP:0003941	Stippled calcification of the elbow	biolink:PhenotypicFeature	hp	UMLS:C4025493			http://purl.obolibrary.org/obo/HP_0003941	
HP:0003942	Synovial chondromatosis of the elbow	biolink:PhenotypicFeature	hp	UMLS:C4025492			http://purl.obolibrary.org/obo/HP_0003942	
HP:0003943	Abnormality of the joint spaces of the elbow	biolink:PhenotypicFeature	hp	UMLS:C4025491		Abnormality of the joint spaces of the elbow	http://purl.obolibrary.org/obo/HP_0003943	
HP:0003944	Narrow joint spaces of the elbow	biolink:PhenotypicFeature	hp	UMLS:C4025490		Narrow joint spaces of the elbow	http://purl.obolibrary.org/obo/HP_0003944	
HP:0003945	Irregular articular surfaces of the elbow joints	biolink:PhenotypicFeature	hp	UMLS:C4025489			http://purl.obolibrary.org/obo/HP_0003945	
HP:0003946	Abnormality of the epiphyses of the elbow	biolink:PhenotypicFeature	hp	UMLS:C4025488		Abnormality of end part of the elbow bone	http://purl.obolibrary.org/obo/HP_0003946	
HP:0003947	Delayed elbow epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C4025487		Delayed maturation of the end part of the elbow bone	http://purl.obolibrary.org/obo/HP_0003947	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	biolink:PhenotypicFeature	hp	UMLS:C4025486		Irregular end part of the elbow bone	http://purl.obolibrary.org/obo/HP_0003948	
HP:0003949	Abnormality of the elbow metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025485		Abnormal wide portion of elbow bone	http://purl.obolibrary.org/obo/HP_0003949	
HP:0003950	Flared elbow metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025484		Flared wide portion of elbow bone	http://purl.obolibrary.org/obo/HP_0003950	
HP:0003951	Distal humeral metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4021703		Irregular wide portion of elbow bone|Irregular metaphyses of elbow	http://purl.obolibrary.org/obo/HP_0003951	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	biolink:PhenotypicFeature	hp	UMLS:C4021702		Vertical linear mixed lucent and sclerotic pattern of metaphyses	http://purl.obolibrary.org/obo/HP_0003952	
HP:0003953	Absent forearm bone	biolink:PhenotypicFeature	hp	UMLS:C4021701		Absent forearm bone|Aplasia of the forearm bones	http://purl.obolibrary.org/obo/HP_0003953	Absence of one or more forearm bones associated with congenital failure of development.
HP:0003954	Angulated forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025483		Angulated forearm bones	http://purl.obolibrary.org/obo/HP_0003954	
HP:0003955	Bone-in-a-bone appearance of forearm	biolink:PhenotypicFeature	hp	UMLS:C4025482		Bone-in-a-bone appearance of forearm	http://purl.obolibrary.org/obo/HP_0003955	A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.
HP:0003956	Bowed forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025481		Bowed forearm bones	http://purl.obolibrary.org/obo/HP_0003956	A bending or abnormal curvature affecting either the radius, the ulna, or both.
HP:0003957	Cortical thickening of the forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4021842			http://purl.obolibrary.org/obo/HP_0003957	
HP:0003958	Cross-fusion of the forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025480			http://purl.obolibrary.org/obo/HP_0003958	
HP:0003959	Deformed forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025479		Deformed forearm bones	http://purl.obolibrary.org/obo/HP_0003959	
HP:0003960	Exostoses of the forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025478			http://purl.obolibrary.org/obo/HP_0003960	
HP:0003961	Fractured forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025477		Fractured forearm bones|Broken forearm|Fracture of the forearm	http://purl.obolibrary.org/obo/HP_0003961	Bone fracture in the radius, ulna, or wrist.
HP:0003963	Lytic defects of the forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025476			http://purl.obolibrary.org/obo/HP_0003963	
HP:0003964	Osteoporotic forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025475			http://purl.obolibrary.org/obo/HP_0003964	
HP:0003965	Pseudarthrosis of the forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025474			http://purl.obolibrary.org/obo/HP_0003965	
HP:0003966	Sclerotic foci in forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025473			http://purl.obolibrary.org/obo/HP_0003966	
HP:0003967	Sclerotic forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025472		Increased bone density of forearm bones	http://purl.obolibrary.org/obo/HP_0003967	
HP:0003969	Slender forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025471			http://purl.obolibrary.org/obo/HP_0003969	
HP:0003970	Undermodelled forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025470			http://purl.obolibrary.org/obo/HP_0003970	
HP:0003971	Broad forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4021700		Broad forearm bones|Wide forearm bones	http://purl.obolibrary.org/obo/HP_0003971	Abnormally wide bone of the skeleton of forearm.
HP:0003973	Wide radioulnar joints	biolink:PhenotypicFeature	hp	UMLS:C4021699		Broad radioulnar joints	http://purl.obolibrary.org/obo/HP_0003973	
HP:0003974	Absent radius	biolink:PhenotypicFeature	hp	UMLS:C1405984|UMLS:C1838608|UMLS:C1849314	hposlim_core	Missing outer large bone of forearm|Absent ossification/absence of radius|Aplasia of the radius|Radial aplasia|absence of radius and ulna	http://purl.obolibrary.org/obo/HP_0003974	Missing radius bone associated with congenital failure of development.
HP:0003975	obsolete Chevron-shaped/cone-shaped radius	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0003975	
HP:0003976	Constricted radius	biolink:PhenotypicFeature	hp	UMLS:C4025468			http://purl.obolibrary.org/obo/HP_0003976	
HP:0003977	Deformed radius	biolink:PhenotypicFeature	hp	UMLS:C4025467			http://purl.obolibrary.org/obo/HP_0003977	
HP:0003978	Fractured radius	biolink:PhenotypicFeature	hp	MSH:D011885|SNOMEDCT_US:12676007|UMLS:C0034628			http://purl.obolibrary.org/obo/HP_0003978	
HP:0003979	Lytic defects of the radius	biolink:PhenotypicFeature	hp	UMLS:C4021841			http://purl.obolibrary.org/obo/HP_0003979	
HP:0003980	Pseudarthrosis of the radius	biolink:PhenotypicFeature	hp	UMLS:C4025466			http://purl.obolibrary.org/obo/HP_0003980	
HP:0003981	Broad radius	biolink:PhenotypicFeature	hp	UMLS:C4021698		Wide radius	http://purl.obolibrary.org/obo/HP_0003981	Increased width of the radius.
HP:0003982	Aplasia of the ulna	biolink:PhenotypicFeature	hp	UMLS:C2678397	hposlim_core	Absent ossification/absent ulna|Absent ulna|Absent ulnae	http://purl.obolibrary.org/obo/HP_0003982	Missing ulna bone associated with congenital failure of development.
HP:0003984	Posteriorly dislocated ulna	biolink:PhenotypicFeature	hp	UMLS:C4025465			http://purl.obolibrary.org/obo/HP_0003984	
HP:0003985	Exostoses of the ulna	biolink:PhenotypicFeature	hp	UMLS:C4025464			http://purl.obolibrary.org/obo/HP_0003985	
HP:0003986	Exostoses of the radius	biolink:PhenotypicFeature	hp	UMLS:C4025463			http://purl.obolibrary.org/obo/HP_0003986	
HP:0003987	Fractured ulna	biolink:PhenotypicFeature	hp	MSH:D014458|SNOMEDCT_US:54556006|UMLS:C0041601			http://purl.obolibrary.org/obo/HP_0003987	
HP:0003988	Long ulna	biolink:PhenotypicFeature	hp	UMLS:C1848108	hposlim_core	Disproportionately long ulnae	http://purl.obolibrary.org/obo/HP_0003988	Increased length of the ulna.
HP:0003989	Notched ulna	biolink:PhenotypicFeature	hp	UMLS:C4025462			http://purl.obolibrary.org/obo/HP_0003989	
HP:0003990	Pointed ulna	biolink:PhenotypicFeature	hp	UMLS:C4025461			http://purl.obolibrary.org/obo/HP_0003990	
HP:0003991	Osteosclerosis of the ulna	biolink:PhenotypicFeature	hp	UMLS:C4021697		Sclerotic ulna	http://purl.obolibrary.org/obo/HP_0003991	Osteosclerosis (increased density related to increased bone mass) of the ulna.
HP:0003992	Slender ulna	biolink:PhenotypicFeature	hp	UMLS:C1968814			http://purl.obolibrary.org/obo/HP_0003992	Reduction in diameter of the ulna.
HP:0003993	Broad ulna	biolink:PhenotypicFeature	hp	UMLS:C4020692|UMLS:C4025460		Wide ulna	http://purl.obolibrary.org/obo/HP_0003993	Increased width of the ulna.
HP:0003994	Dislocated wrist	biolink:PhenotypicFeature	hp	MEDDRA:10013184|SNOMEDCT_US:125618007|UMLS:C0159941		Dislocated wrist|Dislocations of the wrists	http://purl.obolibrary.org/obo/HP_0003994	An injury of the wrist with displacement of any of the eight carpal bones.
HP:0003995	Abnormality of the radial head	biolink:PhenotypicFeature	hp	UMLS:C4021696		Deformity of radial heads	http://purl.obolibrary.org/obo/HP_0003995	
HP:0003996	Flattened radial head	biolink:PhenotypicFeature	hp	UMLS:C4025459			http://purl.obolibrary.org/obo/HP_0003996	
HP:0003997	Hypoplastic radial head	biolink:PhenotypicFeature	hp	UMLS:C4021695		Small radial head	http://purl.obolibrary.org/obo/HP_0003997	
HP:0003998	Constricted radial neck	biolink:PhenotypicFeature	hp	UMLS:C4025458			http://purl.obolibrary.org/obo/HP_0003998	
HP:0003999	Abnormality of radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4021694		Abnormality of radial epiphyseal plates	http://purl.obolibrary.org/obo/HP_0003999	
HP:0004000	Cone-shaped distal radial epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4025457		Chevron-shaped distal radial epiphysis	http://purl.obolibrary.org/obo/HP_0004000	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	biolink:PhenotypicFeature	hp	UMLS:C4025456			http://purl.obolibrary.org/obo/HP_0004001	
HP:0004002	Flattened radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025455			http://purl.obolibrary.org/obo/HP_0004002	
HP:0004003	Medially flattened radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025454			http://purl.obolibrary.org/obo/HP_0004003	
HP:0004004	Irregular radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025453			http://purl.obolibrary.org/obo/HP_0004004	
HP:0004005	Large radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025452			http://purl.obolibrary.org/obo/HP_0004005	
HP:0004006	Round radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025451			http://purl.obolibrary.org/obo/HP_0004006	
HP:0004007	Sclerotic radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025450			http://purl.obolibrary.org/obo/HP_0004007	
HP:0004008	Sloping radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025449			http://purl.obolibrary.org/obo/HP_0004008	
HP:0004009	Medially sloping radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025448			http://purl.obolibrary.org/obo/HP_0004009	
HP:0004010	Small radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025447			http://purl.obolibrary.org/obo/HP_0004010	
HP:0004012	Premature fusion of the radial epiphyseal plates	biolink:PhenotypicFeature	hp	UMLS:C4025446			http://purl.obolibrary.org/obo/HP_0004012	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	biolink:PhenotypicFeature	hp	UMLS:C4025445			http://purl.obolibrary.org/obo/HP_0004013	
HP:0004014	Broad radial epiphyseal plate	biolink:PhenotypicFeature	hp	UMLS:C4021693		Wide radial epiphyseal plates	http://purl.obolibrary.org/obo/HP_0004014	Abnormal increase in width of the epiphyseal growth plate of the radius.
HP:0004015	Abnormality of radial metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025444			http://purl.obolibrary.org/obo/HP_0004015	
HP:0004016	Cupped radial metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025443			http://purl.obolibrary.org/obo/HP_0004016	
HP:0004017	Exostoses of the radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025442			http://purl.obolibrary.org/obo/HP_0004017	
HP:0004018	Flared radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025441		Broadening of the distal radius	http://purl.obolibrary.org/obo/HP_0004018	The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.
HP:0004019	Radial metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4021692		Irregular radial metaphysis	http://purl.obolibrary.org/obo/HP_0004019	Irregularity of the normally smooth surface of the metaphysis of the radius.
HP:0004020	Irregular ossification of the radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025440			http://purl.obolibrary.org/obo/HP_0004020	
HP:0004021	Lytic defects of radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025439			http://purl.obolibrary.org/obo/HP_0004021	
HP:0004022	Sclerotic radial metaphysis with longitudinal striations	biolink:PhenotypicFeature	hp	UMLS:C4025438			http://purl.obolibrary.org/obo/HP_0004022	
HP:0004023	Sloping radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025437			http://purl.obolibrary.org/obo/HP_0004023	
HP:0004024	Medially sloping radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025436			http://purl.obolibrary.org/obo/HP_0004024	
HP:0004025	Spurred radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025435			http://purl.obolibrary.org/obo/HP_0004025	
HP:0004026	Broad radial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021691		Wide radial metaphysis	http://purl.obolibrary.org/obo/HP_0004026	Increase in width (breadth) of the radial metaphysis.
HP:0004027	Abnormality of radial diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025434			http://purl.obolibrary.org/obo/HP_0004027	An anomaly of the radial diaphysis.
HP:0004028	Spurs of radial diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025433			http://purl.obolibrary.org/obo/HP_0004028	
HP:0004029	Lytic defects of radial diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025432			http://purl.obolibrary.org/obo/HP_0004029	
HP:0004030	Patchy sclerosis of radial diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025431			http://purl.obolibrary.org/obo/HP_0004030	
HP:0004031	Broad radial diaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021690		Wide radial diaphysis	http://purl.obolibrary.org/obo/HP_0004031	Increase in width of the diaphysis of radius.
HP:0004032	Abnormality of the olecranon	biolink:PhenotypicFeature	hp	UMLS:C4025430			http://purl.obolibrary.org/obo/HP_0004032	
HP:0004033	Curved olecranon	biolink:PhenotypicFeature	hp	UMLS:C4025429			http://purl.obolibrary.org/obo/HP_0004033	
HP:0004034	Irregular olecranon	biolink:PhenotypicFeature	hp	UMLS:C4025428			http://purl.obolibrary.org/obo/HP_0004034	
HP:0004035	Abnormality of the styloid process of ulna	biolink:PhenotypicFeature	hp	UMLS:C4025427			http://purl.obolibrary.org/obo/HP_0004035	
HP:0004036	Long styloid process of ulna	biolink:PhenotypicFeature	hp	UMLS:C4025426			http://purl.obolibrary.org/obo/HP_0004036	
HP:0004037	Abnormality of the ulnar epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4021689		Abnormality of the epiphyseal plate of the ulna	http://purl.obolibrary.org/obo/HP_0004037	
HP:0004038	obsolete Bony spicule of ulnar epiphyseal plate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004038	
HP:0004039	Abnormality of ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025424			http://purl.obolibrary.org/obo/HP_0004039	
HP:0004040	Corner fragments of ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025423			http://purl.obolibrary.org/obo/HP_0004040	
HP:0004041	Cupped ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025422			http://purl.obolibrary.org/obo/HP_0004041	
HP:0004042	Ulnar metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4021688		Irregular ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0004042	Irregularity of the normally smooth surface of the metaphysis of the ulna.
HP:0004043	Lytic defects of ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025421			http://purl.obolibrary.org/obo/HP_0004043	
HP:0004044	Pointed ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025420			http://purl.obolibrary.org/obo/HP_0004044	
HP:0004045	Sloping ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025419			http://purl.obolibrary.org/obo/HP_0004045	A sloped configuration of the metaphysis (shaft) of the ulna.
HP:0004046	Spurred ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025418			http://purl.obolibrary.org/obo/HP_0004046	
HP:0004047	Wide ulnar metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021687		Broad ulnar metaphysis	http://purl.obolibrary.org/obo/HP_0004047	Increase in width (breadth) of the ulnar metaphysis.
HP:0004048	Narrow joint spaces of wrist	biolink:PhenotypicFeature	hp	UMLS:C4025417			http://purl.obolibrary.org/obo/HP_0004048	
HP:0004049	Decreased carpal angles of wrist	biolink:PhenotypicFeature	hp	UMLS:C4025416			http://purl.obolibrary.org/obo/HP_0004049	
HP:0004050	Absent hand	biolink:PhenotypicFeature	hp	SNOMEDCT_US:371199008|UMLS:C0265594	hposlim_core	Absent hand|Acheiria	http://purl.obolibrary.org/obo/HP_0004050	The total absence of the hand, with no bony elements distal to the radius or ulna.
HP:0004051	Advanced ossification of the hand bones	biolink:PhenotypicFeature	hp	UMLS:C4020834		Accelerated maturation of hand bones|Advanced maturation of the hand bones	http://purl.obolibrary.org/obo/HP_0004051	Ossification of hand bones at an earlier age than normal.
HP:0004052	Delayed ossification of the hand bones	biolink:PhenotypicFeature	hp	UMLS:C4020833|UMLS:C4021686		Delayed maturation of the hand bones|Delay maturation/delayed ossification of the hand	http://purl.obolibrary.org/obo/HP_0004052	Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.
HP:0004053	Dysharmonic maturation of the hand bones	biolink:PhenotypicFeature	hp	UMLS:C4021685		Disharmonic maturation of the hand bones|Dysharmonic ossification of the hand bones	http://purl.obolibrary.org/obo/HP_0004053	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	biolink:PhenotypicFeature	hp	UMLS:C4021684		Increased bone density in hand bone|Generalized sclerosis of hand bones|Hand bone sclerosis|Increased bone density in hand bones	http://purl.obolibrary.org/obo/HP_0004054	Osteosclerosis affecting one or more bones of the hand.
HP:0004057	Mitten deformity	biolink:PhenotypicFeature	hp	UMLS:C1969236		Pseudosyndactyly	http://purl.obolibrary.org/obo/HP_0004057	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	biolink:PhenotypicFeature	hp	UMLS:C4025415			http://purl.obolibrary.org/obo/HP_0004058	
HP:0004059	Radial club hand	biolink:PhenotypicFeature	hp	UMLS:C4025414			http://purl.obolibrary.org/obo/HP_0004059	Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.
HP:0004060	Trident hand	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249755001|UMLS:C0426874	hposlim_core	trident abnormality|trident deformity	http://purl.obolibrary.org/obo/HP_0004060	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:0004066	obsolete Laterally deviated thumb phalanges	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004066	
HP:0004083	obsolete Laterally deviated terminal thumb phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004083	
HP:0004090	obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004090	
HP:0004095	Curved fingers	biolink:PhenotypicFeature	hp	UMLS:C4025413		Curved fingers	http://purl.obolibrary.org/obo/HP_0004095	
HP:0004097	Deviation of finger	biolink:PhenotypicFeature	hp	SNOMEDCT_US:203556007|SNOMEDCT_US:26517000|UMLS:C0410740		Atypical position of finger|Finger pointing in a different direction than usual|Deviated fingers	http://purl.obolibrary.org/obo/HP_0004097	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	biolink:PhenotypicFeature	hp	MEDDRA:10025386|MSH:C562546|SNOMEDCT_US:48449000|UMLS:C0265552	hposlim_core	Finger overgrowth|Megalodactyly	http://purl.obolibrary.org/obo/HP_0004099	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	biolink:PhenotypicFeature	hp	UMLS:C4021683		Abnormality of index finger|Abnormality of the 2nd finger	http://purl.obolibrary.org/obo/HP_0004100	An anomaly of the second finger, also known as the index finger.
HP:0004110	obsolete Radially deviated index finger phalanges	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004110	
HP:0004112	Midline nasal groove	biolink:PhenotypicFeature	hp	UMLS:C4025412		Central nasal groove|Midline nasal groove	http://purl.obolibrary.org/obo/HP_0004112	An abnormal groove on the midline of the nose that may extend to the nasal tip.
HP:0004121	obsolete Radially displaced proximal index finger phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004121	
HP:0004122	Midline defect of the nose	biolink:PhenotypicFeature	hp	UMLS:C4025411|UMLS:C4280539		Midline defect of the nose|Central cleft of nose|Midline cleft of nose|Central defect of nose|Central nasal defect|Midline nasal defect	http://purl.obolibrary.org/obo/HP_0004122	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	biolink:PhenotypicFeature	hp	UMLS:C1863349		Dimple on nasal tip|Dimpled tip of nose	http://purl.obolibrary.org/obo/HP_0004132	An abnormal indentation of the skin in the region of the nasal tip.
HP:0004138	obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004138	
HP:0004139	obsolete Flared metaphysis of middle phalanx of index finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004139	
HP:0004143	obsolete Radially deviated terminal index finger phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004143	
HP:0004144	obsolete Duplication of terminal index finger phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004144	
HP:0004150	Abnormal 3rd finger morphology	biolink:PhenotypicFeature	hp	UMLS:C4021682		Abnormality of the 3rd finger|Abnormality of the middle finger	http://purl.obolibrary.org/obo/HP_0004150	An anomaly of the third finger.
HP:0004153	obsolete Overgrowth of middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004153	
HP:0004157	obsolete Accessory middle-finger phalanges	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004157	
HP:0004161	obsolete Periosteal new bone of middle finger phalanges	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004161	
HP:0004162	obsolete Radially pointed middle finger phalanges	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004162	
HP:0004168	obsolete Radially pointed proximal middle-finger phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004168	
HP:0004172	Abnormality of the middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4025410		Abnormal middle finger bone of the middle finger	http://purl.obolibrary.org/obo/HP_0004172	
HP:0004174	obsolete Accessory middle phalanx of middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004174	
HP:0004175	obsolete Periosteal new bone of middle phalanx of middle-finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004175	
HP:0004180	Short distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021681		Short outermost bone of the middle finger|Hypoplastic/small distal phalanx of the 3rd finger|Short distal phalanx of the third finger|Short terminal phalanx of middle finger	http://purl.obolibrary.org/obo/HP_0004180	Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.
HP:0004183	obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004183	
HP:0004184	obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004184	
HP:0004185	obsolete Fused epiphysis of terminal phalanx of the middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004185	
HP:0004186	obsolete Large epiphysis of terminal phalanx of the middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004186	
HP:0004187	obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004187	
HP:0004188	Abnormal 4th finger morphology	biolink:PhenotypicFeature	hp	UMLS:C4021680		Abnormality of the 4th finger|Abnormality of the ring finger	http://purl.obolibrary.org/obo/HP_0004188	
HP:0004192	obsolete Bracket epiphyses of the 4th finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004192	
HP:0004193	obsolete Expanded phalanges of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004193	
HP:0004194	obsolete Hypoplastic phalanges of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004194	
HP:0004195	Osteolytic defects of the phalanges of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4020832|UMLS:C4025409		Lytic defects of the phalanges of the ring finger	http://purl.obolibrary.org/obo/HP_0004195	Osteolytic defects of the phalanges of the 4th (ring) finger.
HP:0004196	obsolete Short phalanges of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004196	
HP:0004197	Symphalangism of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021679		Fused ring finger bones|Symphalangism of the ring finger	http://purl.obolibrary.org/obo/HP_0004197	Fusion of two or more bones of the 4th finger.
HP:0004198	obsolete Wide/broad phalanges of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004198	
HP:0004201	obsolete Expanded proximal phalanx of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004201	
HP:0004202	obsolete Lytic defects of the proximal phalanx of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004202	
HP:0004203	obsolete Short proximal phalanx of the ring finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004203	
HP:0004207	Abnormal 5th finger morphology	biolink:PhenotypicFeature	hp	UMLS:C4021678		Abnormality of the little finger|Abnormality of the pinkie finger|Abnormality of the pinky finger|Abnormality of the 5th finger	http://purl.obolibrary.org/obo/HP_0004207	An abnormality affecting one or both 5th fingers.
HP:0004209	Clinodactyly of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C1850049|UMLS:C4280538		Curvature of little finger|Curvature of pinkie finger|Curvature of pinky finger|Permanent curving of the pinkie finger|Bilateral fifth digit clinodactyly|Bilateral fifth finger clinodactyly|Clinodactyly of fifth digit|Clinodactyly of the little finger|Fifth finger clinodactyly	http://purl.obolibrary.org/obo/HP_0004209	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	biolink:PhenotypicFeature	hp	UMLS:C4025408		Abnormality of the little finger bone|Abnormality of the pinkie finger bone|Abnormality of the pinky finger bone|Abnormality of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0004213	Abnormality of the phalanges of the 5th (little) finger.
HP:0004214	Curved phalanges of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4025407		Curved little finger bone|Curved pinkie finger bone|Curved pinky finger bone	http://purl.obolibrary.org/obo/HP_0004214	Curved phalanges of the 5th (little) finger.
HP:0004216	Osteolytic defects of the phalanges of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021677		Lytic defects of the phalanges of the little finger	http://purl.obolibrary.org/obo/HP_0004216	Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.
HP:0004218	Symphalangism of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021676		Fused little finger bones|Fused pinkie finger bones|Fused pinky finger bones|Fifth finger symphalangism|Symphalagism of the little finger	http://purl.obolibrary.org/obo/HP_0004218	Fusion of two or more bones of the 5th finger.
HP:0004219	Abnormality of the middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4025406		Abnormality of the middle bone of little finger|Abnormality of the middle bone of pinkie finger|Abnormality of the middle bone of pinky finger	http://purl.obolibrary.org/obo/HP_0004219	
HP:0004220	Short middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C1834060		Short middle bone of the little finger|Short middle bone of the pinkie finger|Short middle bone of the pinky finger|5th finger middle phalangeal hypoplasia|Brachymesophalangism V|Fifth finger mid-phalanx hypoplasia|Hypoplastic fifth finger middle phalanx|Hypoplastic middle phalanx of the 5th finger|Hypoplastic/small middle phalanx of the 5th finger|Hypoplastic/small middle phalanx of the little finger|Short middle phalanx of the little finger|Type A3 brachydactyly	http://purl.obolibrary.org/obo/HP_0004220	Hypoplastic/small middle phalanx of the fifth finger.
HP:0004222	Cone-shaped epiphysis of the distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021675		Cone-shaped end part of the outermost little finger bone|Cone-shaped end part of the outermost pinkie finger bone|Cone-shaped end part of the outermost pinky finger bone|Cone-shaped epiphysis of the distal phalanx of the little finger	http://purl.obolibrary.org/obo/HP_0004222	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	biolink:PhenotypicFeature	hp	UMLS:C4021674		Increased bone density of end part of the outermost little finger bone|Increased bone density of end part of the outermost pinkie finger bone|Increased bone density of end part of the outermost pinky finger bone|Ivory epiphysis of the distal phalanx of the little finger|Ivory epiphysis of the terminal phalanx of the little finger	http://purl.obolibrary.org/obo/HP_0004223	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	biolink:PhenotypicFeature	hp	UMLS:C4025405		Abnormality of the end part of middle little finger bone|Abnormality of the end part of middle pinkie finger bone|Abnormality of the end part of middle pinky finger bone	http://purl.obolibrary.org/obo/HP_0004224	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	biolink:PhenotypicFeature	hp	UMLS:C4021673		Abnormality of the outermost little finger bone|Abnormality of the outermost pinkie finger bone|Abnormality of the outermost pinky finger bone|Abnormality of the distal phalanx of the little finger|Abnormality of the terminal phalanx of the little finger	http://purl.obolibrary.org/obo/HP_0004225	Abnormality of the distal phalanx of the 5th (little) finger.
HP:0004226	Curved distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021672		Curved outermost little finger bone|Curved outermost pinkie finger bone|Curved outermost pinky finger bone|Curved terminal phalanx of the little finger	http://purl.obolibrary.org/obo/HP_0004226	Curved appearance of the distal phalanx of the 5th (little) finger.
HP:0004227	Short distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C1836674		Short outermost little finger bone|Short outermost pinkie finger bone|Short outermost pinky finger bone|Brachytelophalangism V|Fifth digit distal phalangeal hypoplasia|Hypoplastic/small terminal phalanx of the little finger|Short distal phalanx of the fifth finger	http://purl.obolibrary.org/obo/HP_0004227	Hypoplastic/small distal phalanx of the fifth finger.
HP:0004230	Subluxation of the proximal interphalangeal joint of the little finger	biolink:PhenotypicFeature	hp	UMLS:C4025404		Partially dislocated innermost hinge joint of little finger|Partially dislocated innermost hinge joint of pinkie finger|Partially dislocated innermost hinge joint of pinky finger	http://purl.obolibrary.org/obo/HP_0004230	A partial dislocation of the proximal interphalangeal joint of the little finger.
HP:0004231	Carpal bone aplasia	biolink:PhenotypicFeature	hp	UMLS:C1836219|UMLS:C4280537		Absent wrist bone|Missing wrist bone|Absent carpal bone|Absent carpal bones|Absent carpal ossification center|Aplastic carpal bone	http://purl.obolibrary.org/obo/HP_0004231	Congenital absence of a carpal bone.
HP:0004232	Accessory carpal bones	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20136007|SNOMEDCT_US:9181003|UMLS:C0265609		Extra wrist bones|Supernumerary carpal bones	http://purl.obolibrary.org/obo/HP_0004232	The presence of more than the normal number of carpal bones.
HP:0004233	Advanced ossification of carpal bones	biolink:PhenotypicFeature	hp	UMLS:C1849292|UMLS:C4280536		Accelerated wrist bone maturation|Accelerated carpal bone maturation|Advanced carpal bone age|Advanced carpal ossification|Precociously ossified carpal bones	http://purl.obolibrary.org/obo/HP_0004233	Ossification of carpal bones at an abnormally early age.
HP:0004234	Bone-in-a-bone appearance of carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4025403		Bone-in-a-bone appearance of wrist bones	http://purl.obolibrary.org/obo/HP_0004234	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	biolink:PhenotypicFeature	hp	UMLS:C4025402		Comma-shaped wrist bones	http://purl.obolibrary.org/obo/HP_0004235	
HP:0004236	Irregular carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4025401		Irregular wrist bones	http://purl.obolibrary.org/obo/HP_0004236	Carpal bones with irregular or fragmented margins.
HP:0004237	Large carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4021671	hposlim_core	Large wrist bones|Large carpals	http://purl.obolibrary.org/obo/HP_0004237	Increased size of carpal bones.
HP:0004238	Lytic defects of carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4025400			http://purl.obolibrary.org/obo/HP_0004238	
HP:0004239	Proximally placed carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4025399			http://purl.obolibrary.org/obo/HP_0004239	
HP:0004240	Sclerotic foci within carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4025398|UMLS:C4280535		Hardened spots within wrist bones|Stiffened spots within wrist bones	http://purl.obolibrary.org/obo/HP_0004240	
HP:0004241	Stippled calcification in carpal bones	biolink:PhenotypicFeature	hp	UMLS:C1844846		Punctate calcifications of carpals	http://purl.obolibrary.org/obo/HP_0004241	Point-shaped (punctate) calcifications affecting the carpal bones.
HP:0004242	Broad carpal bones	biolink:PhenotypicFeature	hp	UMLS:C3554618		Wide wrist bones|Wide carpal bones	http://purl.obolibrary.org/obo/HP_0004242	
HP:0004243	Abnormality of the scaphoid	biolink:PhenotypicFeature	hp	UMLS:C4025397			http://purl.obolibrary.org/obo/HP_0004243	
HP:0004244	Accessory scaphoid	biolink:PhenotypicFeature	hp	UMLS:C4025396			http://purl.obolibrary.org/obo/HP_0004244	
HP:0004245	Comma-shaped scaphoid	biolink:PhenotypicFeature	hp	UMLS:C4025395			http://purl.obolibrary.org/obo/HP_0004245	
HP:0004246	Delayed ossification of the scaphoid	biolink:PhenotypicFeature	hp	UMLS:C4021670		Delayed maturation of the scaphoid	http://purl.obolibrary.org/obo/HP_0004246	Formation of bone tissue of scaphoid is less than expected for age.
HP:0004247	Small scaphoid	biolink:PhenotypicFeature	hp	UMLS:C4025394			http://purl.obolibrary.org/obo/HP_0004247	Underdevelopment of the scaphoid.
HP:0004248	Abnormality of the lunate bone	biolink:PhenotypicFeature	hp	UMLS:C4025393			http://purl.obolibrary.org/obo/HP_0004248	
HP:0004249	Accessory lunate	biolink:PhenotypicFeature	hp	UMLS:C4025392			http://purl.obolibrary.org/obo/HP_0004249	
HP:0004250	Proximally placed lunate	biolink:PhenotypicFeature	hp	UMLS:C4025391			http://purl.obolibrary.org/obo/HP_0004250	
HP:0004251	Lunate-triquetral fusion	biolink:PhenotypicFeature	hp	UMLS:C1867930		Lunotriquetral synostosis	http://purl.obolibrary.org/obo/HP_0004251	Osseous fusion of the lunate and triquetrum.
HP:0004252	Abnormality of the trapezium	biolink:PhenotypicFeature	hp	UMLS:C4025390			http://purl.obolibrary.org/obo/HP_0004252	An anomaly of trapezium.
HP:0004253	Absent trapezium	biolink:PhenotypicFeature	hp	UMLS:C1847190		Absent trapezium bone	http://purl.obolibrary.org/obo/HP_0004253	
HP:0004254	Delayed ossification of the trapezium	biolink:PhenotypicFeature	hp	UMLS:C4021669		Delayed maturation of the trapezium	http://purl.obolibrary.org/obo/HP_0004254	Formation of bone tissue of trapezium is less than expected for age.
HP:0004255	Small trapezium	biolink:PhenotypicFeature	hp	UMLS:C4025389			http://purl.obolibrary.org/obo/HP_0004255	Underdevelopment of the trapezium.
HP:0004256	Abnormality of the trapezoid bone	biolink:PhenotypicFeature	hp	UMLS:C4025388			http://purl.obolibrary.org/obo/HP_0004256	
HP:0004257	Delayed ossification of the trapezoid bone	biolink:PhenotypicFeature	hp	UMLS:C4021668		Delayed maturation of the trapezoid bone	http://purl.obolibrary.org/obo/HP_0004257	Formation of bone tissue of trapezoid is less than expected for age.
HP:0004258	Small trapezoid bone	biolink:PhenotypicFeature	hp	UMLS:C4025387			http://purl.obolibrary.org/obo/HP_0004258	Underdevelopment of the trapezoid.
HP:0004259	Abnormality of the hamate bone	biolink:PhenotypicFeature	hp	UMLS:C4025386			http://purl.obolibrary.org/obo/HP_0004259	
HP:0004260	Large hamate bone	biolink:PhenotypicFeature	hp	UMLS:C4025385		Large unciform bone	http://purl.obolibrary.org/obo/HP_0004260	
HP:0004261	Wide hamate bone	biolink:PhenotypicFeature	hp	UMLS:C4021667		Broad hamate bone|Wide unciform bone	http://purl.obolibrary.org/obo/HP_0004261	
HP:0004262	Abnormality of the capitate bone	biolink:PhenotypicFeature	hp	UMLS:C4025384			http://purl.obolibrary.org/obo/HP_0004262	
HP:0004263	Large capitate bone	biolink:PhenotypicFeature	hp	UMLS:C4025383			http://purl.obolibrary.org/obo/HP_0004263	
HP:0004264	Narrow carpal joint spaces	biolink:PhenotypicFeature	hp	UMLS:C4021666		Decreased carpal joint angles	http://purl.obolibrary.org/obo/HP_0004264	
HP:0004267	Narrow small joints of the hand	biolink:PhenotypicFeature	hp	UMLS:C4025382		Narrow small joints of the hand	http://purl.obolibrary.org/obo/HP_0004267	
HP:0004268	Osteoarthritis of the small joints of the hand	biolink:PhenotypicFeature	hp	UMLS:C4025381			http://purl.obolibrary.org/obo/HP_0004268	
HP:0004269	Subluxation of the small joints of the hand	biolink:PhenotypicFeature	hp	UMLS:C4025380		Partial dislocation of small joints of hand	http://purl.obolibrary.org/obo/HP_0004269	A partial dislocation of some or all of the small joints of the hand.
HP:0004271	Cortical thickening of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025379			http://purl.obolibrary.org/obo/HP_0004271	
HP:0004272	Cortical thinning of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025378			http://purl.obolibrary.org/obo/HP_0004272	
HP:0004273	Cupped metaphyses of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025377		Cupped wide portion of hand bones|Cupped metaphysis of hand bones	http://purl.obolibrary.org/obo/HP_0004273	
HP:0004274	Deficient ossification of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025376|UMLS:C4280534		Deficient maturation of hand bones	http://purl.obolibrary.org/obo/HP_0004274	
HP:0004275	Duplication of hand bones	biolink:PhenotypicFeature	hp	UMLS:C3276746		Duplication of hand bones	http://purl.obolibrary.org/obo/HP_0004275	
HP:0004276	Exostoses of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025375			http://purl.obolibrary.org/obo/HP_0004276	Abnormal formation of new bone on the surface of a bone of the hand.
HP:0004277	Fractured hand bones	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20511007|UMLS:C0435632		Broken hand bones|Fractured hand bones	http://purl.obolibrary.org/obo/HP_0004277	
HP:0004278	Synostosis involving bones of the hand	biolink:PhenotypicFeature	hp	UMLS:C4020831		Fused hand bones	http://purl.obolibrary.org/obo/HP_0004278	An abnormal union between bones or parts of bones of the hand.
HP:0004279	Short palm	biolink:PhenotypicFeature	hp	UMLS:C1843108		Short palm|Short hands|Short palms|Hypoplastic hands	http://purl.obolibrary.org/obo/HP_0004279	Short palm.
HP:0004280	Irregular ossification of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025374		Irregular maturation of hand bones	http://purl.obolibrary.org/obo/HP_0004280	
HP:0004281	Irregular sclerosis of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025373			http://purl.obolibrary.org/obo/HP_0004281	
HP:0004283	Narrow palm	biolink:PhenotypicFeature	hp	UMLS:C1857632		Narrow palm|Narrow hand|Narrow hands	http://purl.obolibrary.org/obo/HP_0004283	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	biolink:PhenotypicFeature	hp	UMLS:C4025372		Notched hand bones	http://purl.obolibrary.org/obo/HP_0004284	
HP:0004285	Overmodelled hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025371			http://purl.obolibrary.org/obo/HP_0004285	
HP:0004286	Patchy sclerosis of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025370		Uneven increase in bone density in hand bones	http://purl.obolibrary.org/obo/HP_0004286	
HP:0004287	Pointed hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025369		Pointed hand bones	http://purl.obolibrary.org/obo/HP_0004287	
HP:0004288	Pseudoepiphyses of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025368			http://purl.obolibrary.org/obo/HP_0004288	
HP:0004289	Sclerotic foci in hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025367			http://purl.obolibrary.org/obo/HP_0004289	
HP:0004290	Sclerosis of hand bones with transverse striations	biolink:PhenotypicFeature	hp	UMLS:C4025366			http://purl.obolibrary.org/obo/HP_0004290	
HP:0004291	Stippled calcification of hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025365			http://purl.obolibrary.org/obo/HP_0004291	
HP:0004292	Undermodelled hand bones	biolink:PhenotypicFeature	hp	UMLS:C4025364			http://purl.obolibrary.org/obo/HP_0004292	
HP:0004293	Synostosis of second metacarpal-trapezoid	biolink:PhenotypicFeature	hp	UMLS:C4021665		Fusion of second metacarpal-trapezoid	http://purl.obolibrary.org/obo/HP_0004293	Fusion of the second metacarpal-trapezoid.
HP:0004294	Subluxation of metacarpal phalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C4025363		Partial knuckle dislocation|Subluxation of metacarpophalangeal joints	http://purl.obolibrary.org/obo/HP_0004294	A partial dislocation affecting some or all of the metacarpophalangeal joints.
HP:0004295	Abnormality of the gastric mucosa	biolink:PhenotypicFeature	hp	UMLS:C4025362		Abnormality of the mucous membrane layer of stomach	http://purl.obolibrary.org/obo/HP_0004295	An abnormality of the gastric mucous membrane.
HP:0004296	Abnormality of gastrointestinal vasculature	biolink:PhenotypicFeature	hp	UMLS:C4025361		Abnormality of GI vasculature|Abnormality of GI blood vessels	http://purl.obolibrary.org/obo/HP_0004296	
HP:0004297	Abnormality of the biliary system	biolink:PhenotypicFeature	hp	UMLS:C0940767			http://purl.obolibrary.org/obo/HP_0004297	An abnormality of the biliary system.
HP:0004298	Abnormality of the abdominal wall	biolink:PhenotypicFeature	hp	UMLS:C4021664	hposlim_core	Abnormality of the abdominal wall|Abnormality of external features of the abdomen	http://purl.obolibrary.org/obo/HP_0004298	The presence of any abnormality affecting the abdominal wall.
HP:0004299	Hernia of the abdominal wall	biolink:PhenotypicFeature	hp	Fyler:4414|SNOMEDCT_US:128545000|UMLS:C1442978	hposlim_core	Herniated abdominal wall	http://purl.obolibrary.org/obo/HP_0004299	The presence of a hernia in the abdominal wall.
HP:0004302	Functional motor deficit	biolink:PhenotypicFeature	hp	UMLS:C4025360		Functional motor problems	http://purl.obolibrary.org/obo/HP_0004302	
HP:0004303	Abnormal muscle fiber morphology	biolink:PhenotypicFeature	hp	UMLS:C4021663		Abnormal muscle fibre morphology|Abnormal skeletal muscle fiber morphology|Abnormality of muscle fibers	http://purl.obolibrary.org/obo/HP_0004303	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102542000|UMLS:C0235086		Involuntary movements|Involuntary muscle contractions	http://purl.obolibrary.org/obo/HP_0004305	Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
HP:0004306	Abnormal endocardium morphology	biolink:PhenotypicFeature	hp	UMLS:C4021662		Abnormality of the endocardium|Abnormality of the endomycoardium	http://purl.obolibrary.org/obo/HP_0004306	An abnormality of the endocardium.
HP:0004307	Abnormal anatomic location of the heart	biolink:PhenotypicFeature	hp	UMLS:C4025359			http://purl.obolibrary.org/obo/HP_0004307	Thickening of the left ventricle wall with congenital onset.
HP:0004308	Ventricular arrhythmia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:44103008|UMLS:C0085612		Ventricular arrhythmias	http://purl.obolibrary.org/obo/HP_0004308	
HP:0004309	Ventricular preexcitation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195060002|UMLS:C0559106		Pre-excitation syndrome|Preexcitation|Ventricular pre-excitation	http://purl.obolibrary.org/obo/HP_0004309	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	biolink:PhenotypicFeature	hp	UMLS:C4021661		Abnormality of histiocytes|Abnormality of macrophages	http://purl.obolibrary.org/obo/HP_0004311	An abnormality of macrophages.
HP:0004312	Abnormal reticulocyte morphology	biolink:PhenotypicFeature	hp	UMLS:C4025358		Abnormality of reticulocytes	http://purl.obolibrary.org/obo/HP_0004312	A reticulocyte abnormality.
HP:0004313	Decreased circulating antibody level	biolink:PhenotypicFeature	hp	MSH:D000361|SNOMEDCT_US:119250001|UMLS:C0086438|UMLS:C4048270		Decreased antibody level in blood|Decreased immunoglobulin level|Decreased serum immunoglobulin|Hypogammaglobulinemia|Immunoglobulin deficiency|Reduced immunoglobulin levels	http://purl.obolibrary.org/obo/HP_0004313	An abnormally decreased level of immunoglobulin in blood.
HP:0004315	Decreased circulating IgG level	biolink:PhenotypicFeature	hp	MSH:D017099|SNOMEDCT_US:123785006|SNOMEDCT_US:190981001|UMLS:C0162539		Decreased IgG level|Decreased IgG level in blood|Decreased gamma-globin expression|Decreased immunoglobulin G|Decreased serum IgG|IgG deficiency|Reduced IgG levels	http://purl.obolibrary.org/obo/HP_0004315	An abnormally decreased level of immunoglobulin G (IgG) in blood.
HP:0004319	Decreased circulating aldosterone level	biolink:PhenotypicFeature	hp	MSH:D006994|SNOMEDCT_US:60086000|UMLS:C0020595|UMLS:C0857899|UMLS:C1846226		Low blood aldosterone level|Decreased aldosterone|Decreased aldosterone production|Decreased serum aldosterone|Hypoaldosteronism|Mineralocorticoid insufficiency	http://purl.obolibrary.org/obo/HP_0004319	Abnormally reduced levels of aldosterone.
HP:0004320	Vaginal fistula	biolink:PhenotypicFeature	hp	MSH:D014624|SNOMEDCT_US:45135002|UMLS:C0042253			http://purl.obolibrary.org/obo/HP_0004320	The presence of a fistula of the vagina.
HP:0004321	Bladder fistula	biolink:PhenotypicFeature	hp	MSH:D001747|SNOMEDCT_US:68666001|UMLS:C0005690			http://purl.obolibrary.org/obo/HP_0004321	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237836003|UMLS:C0349588		Decreased body height|Short stature|Small stature|Height less than 3rd percentile|Stature below 3rd percentile	http://purl.obolibrary.org/obo/HP_0004322	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	biolink:PhenotypicFeature	hp	UMLS:C0878621|UMLS:C4025357		Abnormality of body weight|Abnormality of habitus	http://purl.obolibrary.org/obo/HP_0004323	An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
HP:0004324	Increased body weight	biolink:PhenotypicFeature	hp	MSH:D015430|SNOMEDCT_US:161831008|SNOMEDCT_US:262286000|SNOMEDCT_US:8943002|UMLS:C0043094		Increased body weight|Weight gain	http://purl.obolibrary.org/obo/HP_0004324	Abnormally increased body weight.
HP:0004325	Decreased body weight	biolink:PhenotypicFeature	hp	MSH:D013851|MSH:D015431|SNOMEDCT_US:161832001|SNOMEDCT_US:248342006|SNOMEDCT_US:262285001|SNOMEDCT_US:89362005|UMLS:C0041667|UMLS:C1262477|UMLS:C1844806		Decreased body weight|Decreased weight|Low body weight|Low weight|Weight less than 3rd percentile	http://purl.obolibrary.org/obo/HP_0004325	Abnormally low body weight.
HP:0004326	Cachexia	biolink:PhenotypicFeature	hp	MSH:D002100|SNOMEDCT_US:238108007|SNOMEDCT_US:285384003|UMLS:C0006625		Wasting syndrome	http://purl.obolibrary.org/obo/HP_0004326	Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
HP:0004327	Abnormal vitreous humor morphology	biolink:PhenotypicFeature	hp	UMLS:C4025356	hposlim_core	Abnormal vitreous humour morphology	http://purl.obolibrary.org/obo/HP_0004327	Any structural anomaly of the vitreous body.
HP:0004328	Abnormal anterior eye segment morphology	biolink:PhenotypicFeature	hp	UMLS:C4025355		Abnormal anterior segment morphology|Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the eyeball|Abnormality of the anterior segment of the globe	http://purl.obolibrary.org/obo/HP_0004328	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	biolink:PhenotypicFeature	hp	UMLS:C4025354		Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eye|Abnormality of the posterior segment of the eyeball|Abnormality of the posterior segment of the globe	http://purl.obolibrary.org/obo/HP_0004329	
HP:0004330	Increased skull ossification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17401000119104|UMLS:C0020496|UMLS:C4072850|UMLS:C4072851	hposlim_core	Increased Mineralization of skull|Increased calcification of skull|Hyperossification of skull|Hyperostosis of skull|Sclerosis of bones of skull|Sclerosis of skull	http://purl.obolibrary.org/obo/HP_0004330	An increase in the magnitude or amount of ossification of the skull.
HP:0004331	Decreased skull ossification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253980008|UMLS:C0432073|UMLS:C4280533	hposlim_core	Decreased bone formation of skull|Decreased calcification of skull|Decreased mineralization of skull|Deficient skull ossification|Hypoossification of skull|Ossification defect of skull|Poorly mineralized skull|Poorly ossified skull|Poorly ossified skull bones	http://purl.obolibrary.org/obo/HP_0004331	A reduction in the magnitude or amount of ossification of the skull.
HP:0004332	Abnormal lymphocyte morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:250284007|UMLS:C0427546		Abnormal lymphocytes|Abnormality of cells of the lymphoid lineage	http://purl.obolibrary.org/obo/HP_0004332	An abnormality of lymphocytes.
HP:0004333	Bone-marrow foam cells	biolink:PhenotypicFeature	hp	UMLS:C1856560		Bone marrow foam cells|Large vacuolated foam cells ('NP cells') on bone marrow biopsy|Large vacuolated foam cells on bone marrow biopsy	http://purl.obolibrary.org/obo/HP_0004333	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	biolink:PhenotypicFeature	hp	MEDDRA:10040799|SNOMEDCT_US:399979006|SNOMEDCT_US:400190005|UMLS:C0151514	hposlim_core	Skin degeneration|Atrophic skin|Skin atrophy	http://purl.obolibrary.org/obo/HP_0004334	Partial or complete wasting (atrophy) of the skin.
HP:0004336	Myelin outfoldings	biolink:PhenotypicFeature	hp	UMLS:C1843168		Excessive focal folding of myelin sheaths|Irregular myelin foldings	http://purl.obolibrary.org/obo/HP_0004336	The presence of excessive redundant myelin in the peripheral nerve sheath.
HP:0004337	Abnormality of amino acid metabolism	biolink:PhenotypicFeature	hp	UMLS:C1328440		Amino acid levels abnormal	http://purl.obolibrary.org/obo/HP_0004337	Abnormality of an amino acid metabolic process.
HP:0004338	Abnormal circulating aromatic amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4025352		Abnormality of aromatic amino acid family metabolism	http://purl.obolibrary.org/obo/HP_0004338	Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.
HP:0004339	Abnormal circulating sulfur amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4021660		Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids	http://purl.obolibrary.org/obo/HP_0004339	Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.
HP:0004340	Abnormality of vitamin B metabolism	biolink:PhenotypicFeature	hp	UMLS:C4021659		Abnormality of B-vitamin metabolism	http://purl.obolibrary.org/obo/HP_0004340	
HP:0004341	Abnormality of vitamin B12 metabolism	biolink:PhenotypicFeature	hp	UMLS:C4021658		Abnormality of the vitamin B12 metabolism	http://purl.obolibrary.org/obo/HP_0004341	
HP:0004342	Abnormality of galactoside metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025351			http://purl.obolibrary.org/obo/HP_0004342	Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.
HP:0004343	Abnormal glycosphingolipid metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025350		Abnormality of glycosphingolipid metabolism	http://purl.obolibrary.org/obo/HP_0004343	An abnormality of glycosphingolipid metabolism.
HP:0004344	Abnormality of cerebrosidase metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025349			http://purl.obolibrary.org/obo/HP_0004344	
HP:0004345	Ganglioside accumulation	biolink:PhenotypicFeature	hp	UMLS:C4025348			http://purl.obolibrary.org/obo/HP_0004345	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	biolink:PhenotypicFeature	hp	UMLS:C4025347			http://purl.obolibrary.org/obo/HP_0004347	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	biolink:PhenotypicFeature	hp	UMLS:C4021657		Abnormality of bone mineralisation and ossification	http://purl.obolibrary.org/obo/HP_0004348	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	biolink:PhenotypicFeature	hp	UMLS:C2674432		Low solidness and mass of the bones|Decreased bone mineral density|Decreased bone mineral density Z score	http://purl.obolibrary.org/obo/HP_0004349	A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
HP:0004352	Abnormal circulating purine concentration	biolink:PhenotypicFeature	hp	UMLS:C4025346		Abnormal circulating purine level	http://purl.obolibrary.org/obo/HP_0004352	Any deviation from the normal concentration of a purine in the blood circulation.
HP:0004353	Abnormal circulating pyrimidine concentration	biolink:PhenotypicFeature	hp	UMLS:C4025345			http://purl.obolibrary.org/obo/HP_0004353	Any deviation from the normal concentration of a pyrimidine in the blood circulation.
HP:0004354	Abnormal circulating carboxylic acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4025344			http://purl.obolibrary.org/obo/HP_0004354	Any deviation from the normal concentration of a carboxylic acid in the blood circulation.
HP:0004355	obsolete Abnormality of proteoglycan metabolism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004355	
HP:0004356	Abnormality of lysosomal metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025342			http://purl.obolibrary.org/obo/HP_0004356	
HP:0004357	Abnormal circulating leucine concentration	biolink:PhenotypicFeature	hp	UMLS:C4025341			http://purl.obolibrary.org/obo/HP_0004357	Any deviation from the normal circulation of leucine in the blood circulation.
HP:0004358	Abnormality of superoxide metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025340			http://purl.obolibrary.org/obo/HP_0004358	
HP:0004359	Abnormal circulating fatty-acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4020830|UMLS:C4021656		Abnormality of fatty acid metabolism|Fatty acids abnormal	http://purl.obolibrary.org/obo/HP_0004359	A deviation from the normal concentration of a fatty acid in the blood circulation.
HP:0004360	Abnormality of acid-base homeostasis	biolink:PhenotypicFeature	hp	MSH:D000137|UMLS:C0001118		Acid base imbalance	http://purl.obolibrary.org/obo/HP_0004360	An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
HP:0004361	Abnormality of circulating leptin level	biolink:PhenotypicFeature	hp	UMLS:C4025339			http://purl.obolibrary.org/obo/HP_0004361	An abnormal concentration of leptin in the blood.
HP:0004362	Abnormality of enteric ganglion morphology	biolink:PhenotypicFeature	hp	UMLS:C4025338		Abnormality of the enteric ganglia	http://purl.obolibrary.org/obo/HP_0004362	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	biolink:PhenotypicFeature	hp			Abnormal circulating Ca concentration|Abnormal circulating Ca2+ concentration|Abnormal blood calcium levels|Abnormal blood calcium concentration	http://purl.obolibrary.org/obo/HP_0004363	Any deviation from the normal concentration of calcium in the blood circulation.
HP:0004364	Abnormal circulating nitrogen compound concentration	biolink:PhenotypicFeature	hp	UMLS:C4025336			http://purl.obolibrary.org/obo/HP_0004364	Any deviation from the normal concentration of a nitrogen compound in the blood circulation.
HP:0004365	Abnormal circulating tryptophan concentration	biolink:PhenotypicFeature	hp	UMLS:C4025335		Abnormality of tryptophan metabolism	http://purl.obolibrary.org/obo/HP_0004365	Any deviation from the normal concentration of tryptophan in the blood circulation.
HP:0004366	Abnormality of glycolysis	biolink:PhenotypicFeature	hp	UMLS:C4025334			http://purl.obolibrary.org/obo/HP_0004366	An abnormality of glycolysis.
HP:0004367	obsolete Abnormality of glycoprotein metabolism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004367	
HP:0004368	Increased circulating purine concentration	biolink:PhenotypicFeature	hp	UMLS:C4025332		Increased purine levels|Increased purine level	http://purl.obolibrary.org/obo/HP_0004368	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	biolink:PhenotypicFeature	hp	UMLS:C4025331		Decreased purine levels|Decreased purine level	http://purl.obolibrary.org/obo/HP_0004369	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	biolink:PhenotypicFeature	hp	MSH:D001832|UMLS:C0005904|UMLS:C1832160		Abnormality of temperature regulation|Poor temperature regulation|Body temperature changes	http://purl.obolibrary.org/obo/HP_0004370	An abnormality of temperature homeostasis.
HP:0004371	Abnormality of glycosaminoglycan metabolism	biolink:PhenotypicFeature	hp	UMLS:C4025330			http://purl.obolibrary.org/obo/HP_0004371	Abnormality of glycosaminoglycan metabolism.
HP:0004372	Reduced consciousness/confusion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3006004|UMLS:C0234428		Disturbances of consciousness|Lowered consciousness|Reduced consciousness/confusion	http://purl.obolibrary.org/obo/HP_0004372	
HP:0004373	Focal dystonia	biolink:PhenotypicFeature	hp	MSH:D020821|SNOMEDCT_US:445006008|UMLS:C0743332			http://purl.obolibrary.org/obo/HP_0004373	A type of dystonia that is localized to a specific part of the body.
HP:0004374	Hemiplegia/hemiparesis	biolink:PhenotypicFeature	hp	UMLS:C0375206		Paralysis or weakness of one side of body	http://purl.obolibrary.org/obo/HP_0004374	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	biolink:PhenotypicFeature	hp	MSH:D009423|NCIT:C3262|SNOMEDCT_US:126950007|UMLS:C0027766		Tumor of the nervous system|Nervous system cancer|Neoplasia of the nervous system	http://purl.obolibrary.org/obo/HP_0004375	A tumor (abnormal growth of tissue) of the nervous system.
HP:0004376	Neuroblastic tumor	biolink:PhenotypicFeature	hp	UMLS:C1334953		Neuroblastic tumour	http://purl.obolibrary.org/obo/HP_0004376	A family of tumours arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.
HP:0004377	Hematological neoplasm	biolink:PhenotypicFeature	hp	MSH:D019337|SNOMEDCT_US:129154003|SNOMEDCT_US:269475001|UMLS:C0376545		Blood tumor|Haematological neoplasm	http://purl.obolibrary.org/obo/HP_0004377	Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
HP:0004378	Abnormality of the anus	biolink:PhenotypicFeature	hp	UMLS:C4025329		Abnormality of the anus	http://purl.obolibrary.org/obo/HP_0004378	Abnormality of the anal canal.
HP:0004379	Abnormality of alkaline phosphatase level	biolink:PhenotypicFeature	hp	UMLS:C4020829|UMLS:C4025328		Abnormality of ALP level|Abnormality of alkaline phosphatase activity|Alkaline phosphatase abnormal	http://purl.obolibrary.org/obo/HP_0004379	An abnormality of alkaline phosphatase level.
HP:0004380	Aortic valve calcification	biolink:PhenotypicFeature	hp	MSH:C562942|SNOMEDCT_US:250978003|UMLS:C0428791			http://purl.obolibrary.org/obo/HP_0004380	Deposition of calcium salts in the aortic valve.
HP:0004381	Supravalvular aortic stenosis	biolink:PhenotypicFeature	hp	Fyler:1430|MSH:D021921|SNOMEDCT_US:268185002|UMLS:C0003499			http://purl.obolibrary.org/obo/HP_0004381	A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.
HP:0004382	Mitral valve calcification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:473372009|UMLS:C0919718			http://purl.obolibrary.org/obo/HP_0004382	Abnormal calcification of the mitral valve.
HP:0004383	Hypoplastic left heart	biolink:PhenotypicFeature	hp	MSH:D018636|SNOMEDCT_US:62067003|UMLS:C0152101		Underdeveloped left heart|Heart left ventricle hypoplasia|Left ventricular hypoplasia	http://purl.obolibrary.org/obo/HP_0004383	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	biolink:PhenotypicFeature	hp	Fyler:0510|Fyler:510|UMLS:C1834934		Persistent truncus arteriosus type I|Type 1 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0004384	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236077008|UMLS:C0473133		Protracted diarrhoea	http://purl.obolibrary.org/obo/HP_0004385	
HP:0004386	Gastrointestinal inflammation	biolink:PhenotypicFeature	hp	UMLS:C1535950		GI inflammation|Gastrointestinal inflammation	http://purl.obolibrary.org/obo/HP_0004386	Inflammation of the alimentary part of the gastrointestinal system.
HP:0004387	Enterocolitis	biolink:PhenotypicFeature	hp	MSH:D004760|SNOMEDCT_US:43752006|UMLS:C0014356			http://purl.obolibrary.org/obo/HP_0004387	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	biolink:PhenotypicFeature	hp	MSH:C562563|SNOMEDCT_US:18389004|UMLS:C0266200|UMLS:C3553395		Microcolon on contrast enema	http://purl.obolibrary.org/obo/HP_0004388	A colon of abnormally small caliber.
HP:0004389	Intestinal pseudo-obstruction	biolink:PhenotypicFeature	hp	MSH:D007418|SNOMEDCT_US:235825006|SNOMEDCT_US:715201005|UMLS:C0021847		Intestinal pseudoobstruction	http://purl.obolibrary.org/obo/HP_0004389	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:27391005|UMLS:C0334092|UMLS:C3277418		Gastrointestinal hamartoma|Hamartomatous polyps|Gastrointestinal hamartomatous polyps	http://purl.obolibrary.org/obo/HP_0004390	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	biolink:PhenotypicFeature	hp	MSH:D011535|SNOMEDCT_US:5187006|UMLS:C0033770		Prune belly	http://purl.obolibrary.org/obo/HP_0004392	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	biolink:PhenotypicFeature	hp	MSH:C562464|SNOMEDCT_US:78809005|SNOMEDCT_US:87252009|UMLS:C0236048			http://purl.obolibrary.org/obo/HP_0004394	
HP:0004395	Malnutrition	biolink:PhenotypicFeature	hp	MSH:D044342|SNOMEDCT_US:248325000|SNOMEDCT_US:2492009|SNOMEDCT_US:47563007|SNOMEDCT_US:65404009|SNOMEDCT_US:70241007|UMLS:C0162429		Malnutrition	http://purl.obolibrary.org/obo/HP_0004395	
HP:0004396	Poor appetite	biolink:PhenotypicFeature	hp	SNOMEDCT_US:64379006|UMLS:C0232462		Decreased appetite|Poor appetite|No appetite	http://purl.obolibrary.org/obo/HP_0004396	
HP:0004397	Ectopic anus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5153001|UMLS:C0266231	hposlim_core	Abnormal anus position|Anus malposition	http://purl.obolibrary.org/obo/HP_0004397	Abnormal displacement or malposition of the anus.
HP:0004398	Peptic ulcer	biolink:PhenotypicFeature	hp	MSH:D010437|SNOMEDCT_US:13200003|UMLS:C0030920		Sore in the lining of gastrointestinal tract	http://purl.obolibrary.org/obo/HP_0004398	An ulcer of the gastrointestinal tract.
HP:0004399	Congenital pyloric atresia	biolink:PhenotypicFeature	hp	UMLS:C4025327	hposlim_core		http://purl.obolibrary.org/obo/HP_0004399	Congenital atresia of the pylorus.
HP:0004400	Abnormality of the pylorus	biolink:PhenotypicFeature	hp	UMLS:C4025326			http://purl.obolibrary.org/obo/HP_0004400	An abnormality of the pylorus.
HP:0004401	Meconium ileus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:206523001|SNOMEDCT_US:233662009|SNOMEDCT_US:86092005|UMLS:C0398349|UMLS:C2939175|UMLS:C3553397		Meconium ileus in neonates|Distal intestinal obstruction syndrome|Meconium ileus on ultrasonography	http://purl.obolibrary.org/obo/HP_0004401	Obstruction of the intestine due to abnormally thick meconium.
HP:0004403	Proximal esophageal atresia	biolink:PhenotypicFeature	hp	UMLS:C4025325			http://purl.obolibrary.org/obo/HP_0004403	
HP:0004404	Abnormal nipple morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:700153004|UMLS:C3839073	hposlim_core	Abnormality of the nipple	http://purl.obolibrary.org/obo/HP_0004404	An abnormality of the nipple.
HP:0004405	Prominent nipples	biolink:PhenotypicFeature	hp	UMLS:C1855513	hposlim_core	Prominent nipples	http://purl.obolibrary.org/obo/HP_0004405	
HP:0004406	Spontaneous, recurrent epistaxis	biolink:PhenotypicFeature	hp	UMLS:C3809715		Recurring nosebleed|Spontaneous, recurrent nosebleed|Recurrent epistaxes|Recurrent epistaxis	http://purl.obolibrary.org/obo/HP_0004406	
HP:0004407	Bony paranasal bossing	biolink:PhenotypicFeature	hp	UMLS:C1857499			http://purl.obolibrary.org/obo/HP_0004407	
HP:0004408	Abnormality of the sense of smell	biolink:PhenotypicFeature	hp	UMLS:C4021655	hposlim_core	Abnormal sense of smell|Abnormality of the sense of smell|Smell defect|Abnormality of olfaction	http://purl.obolibrary.org/obo/HP_0004408	An anomaly in the ability to perceive and distinguish scents (odors).
HP:0004409	Hyposmia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:83156004|UMLS:C2364082	hposlim_core	Decreased smell sensation|Sense of smell impaired	http://purl.obolibrary.org/obo/HP_0004409	A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
HP:0004411	Deviated nasal septum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:126660000|UMLS:C0549397	hposlim_core	Crooked nasal septum|Crooked septum of nose|Deviated nasal septum|Deviated septum of nose	http://purl.obolibrary.org/obo/HP_0004411	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128588008|SNOMEDCT_US:198914002|SNOMEDCT_US:36110001|UMLS:C0009681		Abnormality of lung artery	http://purl.obolibrary.org/obo/HP_0004414	An abnormality of the pulmonary artery.
HP:0004415	Pulmonary artery stenosis	biolink:PhenotypicFeature	hp	Fyler:1622|MSH:D000071079|SNOMEDCT_US:95441000|UMLS:C0238397		Narrowing of lung artery	http://purl.obolibrary.org/obo/HP_0004415	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	biolink:PhenotypicFeature	hp	UMLS:C4021654|UMLS:C4280264		Premature plaque build-up in arteries|Premature atherosclerosis	http://purl.obolibrary.org/obo/HP_0004416	
HP:0004417	Intermittent claudication	biolink:PhenotypicFeature	hp	MSH:D007383|SNOMEDCT_US:63491006|UMLS:C0021775			http://purl.obolibrary.org/obo/HP_0004417	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	biolink:PhenotypicFeature	hp	MSH:D013924|SNOMEDCT_US:64156001|UMLS:C0040046			http://purl.obolibrary.org/obo/HP_0004418	Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
HP:0004419	Recurrent thrombophlebitis	biolink:PhenotypicFeature	hp	UMLS:C3550150		Recurrent phlebitis|Recurrent thrombosis	http://purl.obolibrary.org/obo/HP_0004419	Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
HP:0004420	Arterial thrombosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:65198009|UMLS:C0151942		Blood clot in artery	http://purl.obolibrary.org/obo/HP_0004420	The formation of a blood clot inside an artery.
HP:0004421	Elevated systolic blood pressure	biolink:PhenotypicFeature	hp	UMLS:C1840374		Elevated systolic BP	http://purl.obolibrary.org/obo/HP_0004421	Abnormal increase in systolic blood pressure.
HP:0004422	Biparietal narrowing	biolink:PhenotypicFeature	hp	UMLS:C1854418|UMLS:C4280532		Decreased width of the skull	http://purl.obolibrary.org/obo/HP_0004422	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	biolink:PhenotypicFeature	hp	MSH:C566826|SNOMEDCT_US:718099006|UMLS:C1868598			http://purl.obolibrary.org/obo/HP_0004423	
HP:0004425	Flat forehead	biolink:PhenotypicFeature	hp	UMLS:C1857485		Flat forehead|Flattened forehead|Frontal flattening	http://purl.obolibrary.org/obo/HP_0004425	A forehead with abnormal flatness.
HP:0004426	Abnormality of the cheek	biolink:PhenotypicFeature	hp	UMLS:C4025324		Abnormality of the cheek|Abnormality of the cheeks|Anomaly of the cheeks|Deformity of the cheeks|Malformation of the cheeks	http://purl.obolibrary.org/obo/HP_0004426	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69288002|UMLS:C0332606	hposlim_core	Elf-like facial appearance|Elf-like facial features|Leprechaun facies	http://purl.obolibrary.org/obo/HP_0004428	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	biolink:PhenotypicFeature	hp	UMLS:C1837066			http://purl.obolibrary.org/obo/HP_0004429	Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
HP:0004430	Severe combined immunodeficiency	biolink:PhenotypicFeature	hp	MSH:D016511|SNOMEDCT_US:31323000|UMLS:C0085110		Immunodeficiency, severe combined	http://purl.obolibrary.org/obo/HP_0004430	A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
HP:0004431	Complement deficiency	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24743004|UMLS:C0272242			http://purl.obolibrary.org/obo/HP_0004431	An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.
HP:0004432	Agammaglobulinemia	biolink:PhenotypicFeature	hp	MSH:D000361|SNOMEDCT_US:119249001|UMLS:C0001768		Agammaglobulinaemia	http://purl.obolibrary.org/obo/HP_0004432	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	biolink:PhenotypicFeature	hp	MSH:C562869|SNOMEDCT_US:234554004|UMLS:C0398709			http://purl.obolibrary.org/obo/HP_0004433	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 serum complement C8	biolink:PhenotypicFeature	hp	UMLS:C3151082		C8 deficiency	http://purl.obolibrary.org/obo/HP_0004434	A reduced level of the complement component C8 in circulation.
HP:0004437	Cranial hyperostosis	biolink:PhenotypicFeature	hp	UMLS:C1832451|UMLS:C4280528|UMLS:C4280529|UMLS:C4280530|UMLS:C4280531		Enlargement of skull bones|Excessive growth of skull bones|Overgrowth of skull bones|Thick skull bones|Hypertrophy of cranial bones|Hyperostosis of cranial bones|Hyperostosis of cranial vault|Increased ossification of cranial bones	http://purl.obolibrary.org/obo/HP_0004437	Excessive growth of the bones of cranium, i.e., of the skull.
HP:0004438	Hyperostosis frontalis interna	biolink:PhenotypicFeature	hp	MSH:D006957|SNOMEDCT_US:82054006|UMLS:C0020494|UMLS:C4280524|UMLS:C4280525|UMLS:C4280526|UMLS:C4280527		Thick inner surface of the frontal bone|Enlargement of the inner surface of the frontal bone|Hypertrophy of the internal surface of the frontal bone|Increased ossification of the internal surface of the frontal bone|Overgrowth of the inside of the frontal bone|Thick internal surface of the frontal bone|Excessive growth of inner surface of the frontal bone|Hyperostosis of the internal surface of the frontal bone|Overgrowth of the inner surface of the frontal bone	http://purl.obolibrary.org/obo/HP_0004438	Bony overgrowth of the internal (endosteal) surface of the frontal bone.
HP:0004439	Craniofacial dysostosis	biolink:PhenotypicFeature	hp	MSH:D003394|SNOMEDCT_US:28861008|UMLS:C0010273		Crouzon syndrome	http://purl.obolibrary.org/obo/HP_0004439	A characteristic appearance resulting from defective ossification of craniofacial bones.
HP:0004440	Coronal craniosynostosis	biolink:PhenotypicFeature	hp	UMLS:C1856266	hposlim_core	Coronal suture craniosynostosis|Coronal suture synostosis|Craniosynostosis of coronal suture	http://purl.obolibrary.org/obo/HP_0004440	Premature closure of the coronal suture of skull.
HP:0004442	Sagittal craniosynostosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109418001|UMLS:C0432123	hposlim_core	Early closure of midline skull joint|Midline skull joint closes early|Craniosynostosis, sagittal|Craniosynostosis, sagittal suture|Sagittal suture synostosis	http://purl.obolibrary.org/obo/HP_0004442	A kind of craniosynostosis affecting the sagittal suture.
HP:0004443	Lambdoidal craniosynostosis	biolink:PhenotypicFeature	hp	MSH:D003398|SNOMEDCT_US:109417006|UMLS:C1833340	hposlim_core	Lambdoid suture craniosynostosis|Lambdoid suture synostosis	http://purl.obolibrary.org/obo/HP_0004443	A kind of craniosynostosis affecting the lambdoidal suture.
HP:0004444	Spherocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17235000|UMLS:C0553720			http://purl.obolibrary.org/obo/HP_0004444	The presence of erythrocytes that are sphere-shaped.
HP:0004445	Elliptocytosis	biolink:PhenotypicFeature	hp	MSH:D004612|SNOMEDCT_US:178935009|SNOMEDCT_US:191169008|SNOMEDCT_US:250242004|UMLS:C0013902|UMLS:C0427480		Ovalocytes|Ovalocytosis|Elliptocyte|Hereditary elliptocytosis	http://purl.obolibrary.org/obo/HP_0004445	The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
HP:0004446	Stomatocytosis	biolink:PhenotypicFeature	hp	UMLS:C0677598		Red cell stomatocytosis|erythrocyte stomatocytes	http://purl.obolibrary.org/obo/HP_0004446	The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
HP:0004447	Poikilocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165479004|UMLS:C0221281			http://purl.obolibrary.org/obo/HP_0004447	The presence of abnormally shaped erythrocytes.
HP:0004448	Fulminant hepatic failure	biolink:PhenotypicFeature	hp	MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557			http://purl.obolibrary.org/obo/HP_0004448	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	biolink:PhenotypicFeature	hp	UMLS:C1852411		Preauricular skin groove|Skin groove in front of the ear|Preauricular skin furrows|Preauricular skin sulcus|Skin sulcus in front of the ear	http://purl.obolibrary.org/obo/HP_0004450	A groove of the skin immediately in front of the ear.
HP:0004451	Postauricular skin tag	biolink:PhenotypicFeature	hp	UMLS:C4025323		Skin tag behind the ear|Postauricular acrochordon|Postauricular fibroepithelial polyp	http://purl.obolibrary.org/obo/HP_0004451	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	biolink:PhenotypicFeature	hp	UMLS:C1836678	hposlim_core	Malformed ossicles|Ossicular malformation	http://purl.obolibrary.org/obo/HP_0004452	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	biolink:PhenotypicFeature	hp	UMLS:C1865304		Overfolding of superior helix	http://purl.obolibrary.org/obo/HP_0004453	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	biolink:PhenotypicFeature	hp	UMLS:C1970887			http://purl.obolibrary.org/obo/HP_0004454	
HP:0004458	Dilatated internal auditory canal	biolink:PhenotypicFeature	hp	UMLS:C2676973		Bulbous internal auditory canal|Enlarged internal auditory canal	http://purl.obolibrary.org/obo/HP_0004458	The presence of a dilated inner part of external acoustic meatus.
HP:0004459	Exostosis of the external auditory canal	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19560007|UMLS:C0155411		External auditory canal exostoses	http://purl.obolibrary.org/obo/HP_0004459	A benign bony growth projecting outward from a bone surface within the external auditory canal.
HP:0004461	Congenital earlobe sinuses	biolink:PhenotypicFeature	hp	UMLS:C1969394			http://purl.obolibrary.org/obo/HP_0004461	Pits in the earlobes at the location where ears are typically pierced for earrings.
HP:0004463	Absent brainstem auditory responses	biolink:PhenotypicFeature	hp	UMLS:C1836742		No auditory brainstem response	http://purl.obolibrary.org/obo/HP_0004463	Lack of measurable response to stimulation of auditory evoked potentials.
HP:0004464	Postauricular pit	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43887004|UMLS:C0395905	hposlim_core	Pit behind the ear|Postauricular earpits|Postauricular fistula|Posterior auricular pit|Posterior auricular sinus	http://purl.obolibrary.org/obo/HP_0004464	Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
HP:0004466	Prolonged brainstem auditory evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4025322			http://purl.obolibrary.org/obo/HP_0004466	
HP:0004467	Preauricular pit	biolink:PhenotypicFeature	hp	MSH:C563015|SNOMEDCT_US:1955003|SNOMEDCT_US:204271000|SNOMEDCT_US:204272007|UMLS:C0266610|UMLS:C0266625|UMLS:C0546969		Pit in front of the ear|Ear pit|Preauricular earpits|Preauricular fistulas|Preauricular pits|Preauricular sinus	http://purl.obolibrary.org/obo/HP_0004467	Small indentation anterior to the insertion of the ear.
HP:0004468	Anomalous tracheal cartilage	biolink:PhenotypicFeature	hp	UMLS:C1863406		Abnormal tracheal cartilaginous ring	http://purl.obolibrary.org/obo/HP_0004468	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	biolink:PhenotypicFeature	hp	MSH:D029481|SNOMEDCT_US:63480004|UMLS:C0008677			http://purl.obolibrary.org/obo/HP_0004469	Chronic inflammation of the bronchi.
HP:0004470	Atretic occipital cephalocele	biolink:PhenotypicFeature	hp	UMLS:C1836600			http://purl.obolibrary.org/obo/HP_0004470	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	biolink:PhenotypicFeature	hp	UMLS:C1970112		Absent cutis congenita of vertex|Aplasia cutis congenita of vertex	http://purl.obolibrary.org/obo/HP_0004471	A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.
HP:0004472	Mandibular hyperostosis	biolink:PhenotypicFeature	hp	UMLS:C4025321|UMLS:C4280521|UMLS:C4280522|UMLS:C4280523		Thick lower jaw bone|Excessive growth of mandibular bone|Overgrowth of mandibular bone|Thick mandibular bone|Hyperostosis of lower jaw|Hyperostosis of mandibular bone|Increased ossification of mandibular bone|Increased ossification of lower jaw|Increased ossification of mandible	http://purl.obolibrary.org/obo/HP_0004472	Hyperostosis (bony overgrowth) of the mandible.
HP:0004474	Persistent open anterior fontanelle	biolink:PhenotypicFeature	hp	UMLS:C1849537		Front fontanelle stays open|Persistent, open anterior fontanel|Anterior fontanelle open in adults	http://purl.obolibrary.org/obo/HP_0004474	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	biolink:PhenotypicFeature	hp	UMLS:C1863492		Absent cutis congenita over parietal area	http://purl.obolibrary.org/obo/HP_0004476	A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.
HP:0004478	Ethmoidal encephalocele	biolink:PhenotypicFeature	hp	UMLS:C1843495			http://purl.obolibrary.org/obo/HP_0004478	
HP:0004481	Progressive macrocephaly	biolink:PhenotypicFeature	hp	UMLS:C1859896		Progressively abnormally enlarging cranium|Progressively abnormally enlarging skull|Macrocephaly, progressive	http://purl.obolibrary.org/obo/HP_0004481	The progressive development of an abnormally large skull.
HP:0004482	Relative macrocephaly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3961000119101|UMLS:C1849075		Relatively large head|Disproportionately large head|Macrocephaly, relative	http://purl.obolibrary.org/obo/HP_0004482	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	biolink:PhenotypicFeature	hp	UMLS:C4025320		Abnormality of craniofacial shape|Malformation of craniofacial shape|Uneven craniofacial structures	http://purl.obolibrary.org/obo/HP_0004484	Asymmetry of the bones of the skull and the face.
HP:0004485	Cessation of head growth	biolink:PhenotypicFeature	hp	UMLS:C4025319		Skull stopped growing|Head stopped growing|Cranium stopped growing	http://purl.obolibrary.org/obo/HP_0004485	Stagnation of head growth seen as flattening of the head circumference curve.
HP:0004487	Acrobrachycephaly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:711039004|UMLS:C1863395			http://purl.obolibrary.org/obo/HP_0004487	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	biolink:PhenotypicFeature	hp	UMLS:C1836599	hposlim_core	Big head present at birth|Big head present since birth|Congenital large head|Large head present at birth|Large head present since birth|Big skull present at birth|Big skull present since birth|Large skull present at birth|Large skull present since birth|Big cranium present at birth|Big cranium present since birth|Congenital large cranium|Congenital large skull|Congenital macrocephaly|Head circumference large for gestational age|Large cranium present at birth|Large cranium present since birth	http://purl.obolibrary.org/obo/HP_0004488	The presence of an abnormally large skull with onset at birth.
HP:0004490	Calvarial hyperostosis	biolink:PhenotypicFeature	hp	MSH:C537963|UMLS:C1863351|UMLS:C4280519|UMLS:C4280520		Overgrowth of skullcap|Enlargement of calvarial bones|Excessive growth of calvarial bones|Hypertrophy of calvarial bones|Overgrowth of calvarial bones|Thick calvarial bones|Hyperostosis of calvarial bones|Increased ossification of calvarial bones	http://purl.obolibrary.org/obo/HP_0004490	Excessive growth of the calvaria.
HP:0004491	Large posterior fontanelle	biolink:PhenotypicFeature	hp	UMLS:C1855233		Large posterior fontanel	http://purl.obolibrary.org/obo/HP_0004491	An enlargement of the posterior fontanelle relative to age-dependent norms.
HP:0004492	Widely patent fontanelles and sutures	biolink:PhenotypicFeature	hp	UMLS:C1849300		Widely patent fontanels and sutures	http://purl.obolibrary.org/obo/HP_0004492	An abnormally increased width of the cranial fontanelles and sutures.
HP:0004493	Craniofacial hyperostosis	biolink:PhenotypicFeature	hp	UMLS:C1868085|UMLS:C4280516|UMLS:C4280517|UMLS:C4280518	hposlim_core	Enlargement of craniofacial bones|Excessive growth of craniofacial bones|Overgrowth of craniofacial bones|Thick craniofacial bones|Excessive bone growth of the skull and face|Hypertrophy of craniofacial bones|Hyperostosis of craniofacial bones|Increased ossification of craniofacial bones	http://purl.obolibrary.org/obo/HP_0004493	Excessive growth of the craniofacial bones.
HP:0004495	Thin anteverted nares	biolink:PhenotypicFeature	hp	UMLS:C1834056			http://purl.obolibrary.org/obo/HP_0004495	
HP:0004496	Posterior choanal atresia	biolink:PhenotypicFeature	hp	MSH:C562435|UMLS:C0220723			http://purl.obolibrary.org/obo/HP_0004496	Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).
HP:0004499	Chronic rhinitis due to narrow nasal airway	biolink:PhenotypicFeature	hp	UMLS:C4025318		Chronic nasal inflammation due to narrow nasal airway	http://purl.obolibrary.org/obo/HP_0004499	
HP:0004502	Bilateral choanal atresia	biolink:PhenotypicFeature	hp	UMLS:C4025317		Bilateral blockage of the rear opening of the nasal cavity|Bilateral obstruction of the rear opening of the nasal cavity	http://purl.obolibrary.org/obo/HP_0004502	Bilateral absence (atresia) of the posterior nasal aperture (choana).
HP:0004510	Pancreatic islet-cell hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C0597167		Hyperplastic islets of langerhans|Hypertrophic pancreatic islets|Islet of Langerhans hyperplasia|Islets of langerhans hypertrophy|Pancreatic islet-cell hypertrophy	http://purl.obolibrary.org/obo/HP_0004510	Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
HP:0004523	Long eyebrows	biolink:PhenotypicFeature	hp	UMLS:C3280131		Elongated eyebrow|Increased horizontal length of eyebrow|Increased transverse length of eyebrow|Long eyebrows	http://purl.obolibrary.org/obo/HP_0004523	Increased length of the hairs of the eyebrows.
HP:0004524	Temporal hypotrichosis	biolink:PhenotypicFeature	hp	UMLS:C4025316		Reduced hair growth in temporal region	http://purl.obolibrary.org/obo/HP_0004524	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	biolink:PhenotypicFeature	hp	UMLS:C4025315		Large clumps of pigment irregularly distributed along hair shaft	http://purl.obolibrary.org/obo/HP_0004527	
HP:0004528	Generalized hypotrichosis	biolink:PhenotypicFeature	hp	UMLS:C4021653		Generalised hypotrichosis|Hypotrichosis, generalized	http://purl.obolibrary.org/obo/HP_0004528	Reduced or lacking hair growth in a generalized distribution.
HP:0004529	Atrophic, patchy alopecia	biolink:PhenotypicFeature	hp	UMLS:C4025314			http://purl.obolibrary.org/obo/HP_0004529	
HP:0004532	Sacral hypertrichosis	biolink:PhenotypicFeature	hp	UMLS:C4025313			http://purl.obolibrary.org/obo/HP_0004532	Excessive, increased hair growth located in the sacral region.
HP:0004535	Anterior cervical hypertrichosis	biolink:PhenotypicFeature	hp	MSH:C538390|UMLS:C1838123		Congenital cervical hypertrichosis|Hypertrichosis, congenital anterior cervical	http://purl.obolibrary.org/obo/HP_0004535	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	biolink:PhenotypicFeature	hp	MSH:C538388|UMLS:C1855900		Congenital, generalised hypertrichosis|Congenital generalized hypertrichosis|Hypertrichosis universalis	http://purl.obolibrary.org/obo/HP_0004540	A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
HP:0004544	obsolete Pointed frontal hairline	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004544	
HP:0004552	Scarring alopecia of scalp	biolink:PhenotypicFeature	hp	UMLS:C3806301		Hair loss on scalp from scarring condition|Cicatricial alopecia	http://purl.obolibrary.org/obo/HP_0004552	
HP:0004554	Generalized hypertrichosis	biolink:PhenotypicFeature	hp	UMLS:C3277940		Generalised hypertrichosis	http://purl.obolibrary.org/obo/HP_0004554	Generalized excessive, abnormal hairiness.
HP:0004557	Anterior vertebral fusion	biolink:PhenotypicFeature	hp	UMLS:C1969393			http://purl.obolibrary.org/obo/HP_0004557	
HP:0004558	Cervical platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C1856641		Flattened cervical vertebral bodies	http://purl.obolibrary.org/obo/HP_0004558	A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.
HP:0004562	Beaking of vertebral bodies T12-L3	biolink:PhenotypicFeature	hp	UMLS:C1854941			http://purl.obolibrary.org/obo/HP_0004562	
HP:0004563	Increased spinal bone density	biolink:PhenotypicFeature	hp	UMLS:C4020828|UMLS:C4280254|UMLS:C4280513|UMLS:C4280514|UMLS:C4280515		Increased density of spinal bone|Concrete spinal bone|Dense spinal bone|Ivory spinal bone|Compact spinal bone|Eburnation of spinal bone|Sclerosis of spinal bone|increased spinal bone density Z	http://purl.obolibrary.org/obo/HP_0004563	Increased bone density affecting the bones of the spine (vertebral column).
HP:0004565	Severe platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C1850293		platyspondyly, extreme	http://purl.obolibrary.org/obo/HP_0004565	
HP:0004566	Pear-shaped vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1866731		Pear-shaped vertebral bodies	http://purl.obolibrary.org/obo/HP_0004566	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19888007|UMLS:C0264112|UMLS:C1856599	hposlim_core	Anterior beaking of vertebrae|Anterior beaking of vertebral bodies|Beaked vertebral bodies|Vertebral tongue-like protrusion|anterior beaking	http://purl.obolibrary.org/obo/HP_0004568	Anterior tongue-like protrusions of the vertebral bodies.
HP:0004570	Increased vertebral height	biolink:PhenotypicFeature	hp	UMLS:C1864853		Tall vertebral bodies	http://purl.obolibrary.org/obo/HP_0004570	Increased top to bottom height of vertebral bodies.
HP:0004571	Widening of cervical spinal canal	biolink:PhenotypicFeature	hp	UMLS:C3807591			http://purl.obolibrary.org/obo/HP_0004571	
HP:0004573	Anterior wedging of T11	biolink:PhenotypicFeature	hp	UMLS:C4021652		Anterior wedging of the 11th thoracic vertebra|Wedge-shaped 11th thoracic vertebra	http://purl.obolibrary.org/obo/HP_0004573	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	biolink:PhenotypicFeature	hp	UMLS:C1847394			http://purl.obolibrary.org/obo/HP_0004575	
HP:0004576	Sclerotic vertebral endplates	biolink:PhenotypicFeature	hp	UMLS:C1859698		Endplate sclerosis	http://purl.obolibrary.org/obo/HP_0004576	Sclerosis (increased density) affecting vertebral end plates.
HP:0004580	Anterior scalloping of vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C2673652		Anterior scalloping vertebral bodies	http://purl.obolibrary.org/obo/HP_0004580	An excessive concavity of the anterior surface of one or more vertebral bodies.
HP:0004581	Increased anterior vertebral height	biolink:PhenotypicFeature	hp	UMLS:C1866732			http://purl.obolibrary.org/obo/HP_0004581	
HP:0004582	Irregularity of vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C4025311			http://purl.obolibrary.org/obo/HP_0004582	
HP:0004586	Biconcave vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1856087	hposlim_core	Biconcave 'codfish' vertebrae|Biconcave vertebrae|Codfish vertebrae|Fish vertebrae|Scalloping of vertebral bodies	http://purl.obolibrary.org/obo/HP_0004586	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	biolink:PhenotypicFeature	hp	UMLS:C4025310			http://purl.obolibrary.org/obo/HP_0004589	
HP:0004590	Hypoplastic sacrum	biolink:PhenotypicFeature	hp	UMLS:C1970816		Small sacrum	http://purl.obolibrary.org/obo/HP_0004590	
HP:0004591	Disc-like vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1835444			http://purl.obolibrary.org/obo/HP_0004591	
HP:0004592	Thoracic platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C1862428			http://purl.obolibrary.org/obo/HP_0004592	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	biolink:PhenotypicFeature	hp	UMLS:C1839252			http://purl.obolibrary.org/obo/HP_0004594	
HP:0004598	Supernumerary vertebral ossification centers	biolink:PhenotypicFeature	hp	UMLS:C4025309		Supernumerary vertebral ossification centres	http://purl.obolibrary.org/obo/HP_0004598	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	biolink:PhenotypicFeature	hp	UMLS:C1832983			http://purl.obolibrary.org/obo/HP_0004599	
HP:0004601	Spina bifida occulta at L5	biolink:PhenotypicFeature	hp	UMLS:C4025308			http://purl.obolibrary.org/obo/HP_0004601	The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.
HP:0004602	Cervical C2/C3 vertebral fusion	biolink:PhenotypicFeature	hp	MSH:D007714|SNOMEDCT_US:388981000|SNOMEDCT_US:5601008|UMLS:C0022738		Fusion of cervical vertebrae c2-3|Klippel-Feil anomaly|Klippel-Feil syndrome	http://purl.obolibrary.org/obo/HP_0004602	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	biolink:PhenotypicFeature	hp	UMLS:C4025307			http://purl.obolibrary.org/obo/HP_0004603	
HP:0004605	Absent vertebral body mineralization	biolink:PhenotypicFeature	hp	UMLS:C1860191			http://purl.obolibrary.org/obo/HP_0004605	A lack of bone mineralization of the vertebral bodies.
HP:0004606	Unossified vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1860202			http://purl.obolibrary.org/obo/HP_0004606	A lack of ossification of the vertebral bodies.
HP:0004607	Anterior beaking of lower thoracic vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4025306			http://purl.obolibrary.org/obo/HP_0004607	Anterior tongue-like protrusions of the lower thoracic vertebral bodies.
HP:0004608	Anteriorly placed odontoid process	biolink:PhenotypicFeature	hp	UMLS:C1844512			http://purl.obolibrary.org/obo/HP_0004608	Anterior mislocalization of the dens of the axis.
HP:0004609	Patchy distortion of vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4025305			http://purl.obolibrary.org/obo/HP_0004609	
HP:0004610	Lumbar spinal canal stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18347007|UMLS:C0158288		Lumbar spinal stenosis|Narrow lumbar spinal canal	http://purl.obolibrary.org/obo/HP_0004610	An abnormal narrowing of the lumbar spinal canal.
HP:0004611	Anterior concavity of thoracic vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1839822		Anteriorly concave vertebrae	http://purl.obolibrary.org/obo/HP_0004611	
HP:0004614	Spina bifida occulta at S1	biolink:PhenotypicFeature	hp	UMLS:C4025304			http://purl.obolibrary.org/obo/HP_0004614	The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.
HP:0004616	Cleft vertebral arch	biolink:PhenotypicFeature	hp	UMLS:C1859458		Cleft vertebral arches	http://purl.obolibrary.org/obo/HP_0004616	A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.
HP:0004617	Butterfly vertebral arch	biolink:PhenotypicFeature	hp	UMLS:C1861627			http://purl.obolibrary.org/obo/HP_0004617	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	biolink:PhenotypicFeature	hp	UMLS:C1850134			http://purl.obolibrary.org/obo/HP_0004618	
HP:0004619	Lumbar kyphoscoliosis	biolink:PhenotypicFeature	hp	UMLS:C1834953			http://purl.obolibrary.org/obo/HP_0004619	
HP:0004621	Enlarged vertebral pedicles	biolink:PhenotypicFeature	hp	UMLS:C4025303		Hyperplastic vertebral pedicles	http://purl.obolibrary.org/obo/HP_0004621	Increased size of the vertebral pedicle.
HP:0004622	Progressive intervertebral space narrowing	biolink:PhenotypicFeature	hp	UMLS:C1837670			http://purl.obolibrary.org/obo/HP_0004622	A progressive form of decreased height of the intervertebral disk.
HP:0004625	Biconvex vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1866675			http://purl.obolibrary.org/obo/HP_0004625	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	biolink:PhenotypicFeature	hp	UMLS:C2748518			http://purl.obolibrary.org/obo/HP_0004626	
HP:0004629	Small cervical vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1851130		Small cervical vertebrae	http://purl.obolibrary.org/obo/HP_0004629	Reduced size of cervical vertebrae.
HP:0004630	Anterior beaking of thoracic vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4025302			http://purl.obolibrary.org/obo/HP_0004630	Anterior tongue-like protrusions of thoracic vertebral bodies.
HP:0004631	Decreased cervical spine flexion due to contractures of posterior cervical muscles	biolink:PhenotypicFeature	hp	UMLS:C1839653|UMLS:C4280512		Inability to touch chin to chest|Contracture of post-cervical muscles	http://purl.obolibrary.org/obo/HP_0004631	
HP:0004632	Cervical segmentation defect	biolink:PhenotypicFeature	hp	UMLS:C1862415		Cervical spine segmentation defect	http://purl.obolibrary.org/obo/HP_0004632	An abnormality related to a defect of vertebral separation of cervical vertebrae during development.
HP:0004633	Lower thoracic kyphosis	biolink:PhenotypicFeature	hp	UMLS:C1864361		Round mid-back	http://purl.obolibrary.org/obo/HP_0004633	Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.
HP:0004634	Cuboid-shaped vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C2673653		Cuboid vertebral bodies	http://purl.obolibrary.org/obo/HP_0004634	
HP:0004635	Cervical C5/C6 vertebrae fusion	biolink:PhenotypicFeature	hp	UMLS:C4025301			http://purl.obolibrary.org/obo/HP_0004635	Fusion of the C5 and C6 cervical vertebrae.
HP:0004637	Decreased cervical spine mobility	biolink:PhenotypicFeature	hp	UMLS:C1859692		Limited neck movement	http://purl.obolibrary.org/obo/HP_0004637	
HP:0004639	Elevated amniotic fluid alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C1839860		Elevated amniotic fluid alpha fetal protein|Elevated amniotic fluid alpha-1-fetoprotein|Elevated amniotic fluid alpha-fetoglobulin	http://purl.obolibrary.org/obo/HP_0004639	An elevation of alpha-feto protein measured in the amniotic fluid.
HP:0004646	Hypoplasia of the nasal bone	biolink:PhenotypicFeature	hp	UMLS:C4021651		Small nasal bone|Decreased size of nasal bone|Deficiency of nasal bone|Underdevelopment of nasal bone|Nasal bone hypoplasia|Hypotrophic nasal bone	http://purl.obolibrary.org/obo/HP_0004646	Underdevelopment of the nasal bone.
HP:0004660	Hypoplasia of facial musculature	biolink:PhenotypicFeature	hp	UMLS:C1834042|UMLS:C4280509|UMLS:C4280510|UMLS:C4280511		Small facial muscles|Decreased size of facial muscles|Deficiency of facial musculature|Underdevelopment of facial muscles|Atrophy of facial musculature|Hypotrophic facial musculature	http://purl.obolibrary.org/obo/HP_0004660	Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0004661	Frontalis muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C1859438		Weakness of forehead muscle|Weak frontalis muscle	http://purl.obolibrary.org/obo/HP_0004661	Reduced strength of the frontalis muscle (which is located on the forehead).
HP:0004664	Facial midline hemangioma	biolink:PhenotypicFeature	hp	UMLS:C1862496			http://purl.obolibrary.org/obo/HP_0004664	Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.
HP:0004673	Decreased facial expression	biolink:PhenotypicFeature	hp	UMLS:C1862474		Decreased facial expression	http://purl.obolibrary.org/obo/HP_0004673	A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
HP:0004676	Prominent supraorbital arches in adult	biolink:PhenotypicFeature	hp	UMLS:C1834993			http://purl.obolibrary.org/obo/HP_0004676	
HP:0004679	Large tarsal bones	biolink:PhenotypicFeature	hp	UMLS:C1859116		Large ankle bones	http://purl.obolibrary.org/obo/HP_0004679	
HP:0004681	Deep longitudinal plantar crease	biolink:PhenotypicFeature	hp	UMLS:C1859223|UMLS:C4280508	hposlim_core	Foot crease|Longitudinal groove on soles	http://purl.obolibrary.org/obo/HP_0004681	Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.
HP:0004684	Talipes valgus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:79807003|UMLS:C0152236			http://purl.obolibrary.org/obo/HP_0004684	Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
HP:0004686	Short third metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4021650		Short 3rd long bone of foot|Hypoplasia of the 3rd metatarsal bone	http://purl.obolibrary.org/obo/HP_0004686	Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.
HP:0004688	Irregular tarsal bones	biolink:PhenotypicFeature	hp	UMLS:C1855240		Abnormal shape of ankle bones	http://purl.obolibrary.org/obo/HP_0004688	
HP:0004689	Short fourth metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1848514		Short 4th long bone of foot|Bilateral fourth metatarsal shortening|Short fourth metatarsus|Short fourth metatarsals	http://purl.obolibrary.org/obo/HP_0004689	Short fourth metatarsal bone.
HP:0004690	Thickened Achilles tendon	biolink:PhenotypicFeature	hp	UMLS:C0919997		Thickened Achilles tendon	http://purl.obolibrary.org/obo/HP_0004690	An abnormal thickening of the Achilles tendon.
HP:0004691	2-3 toe syndactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205145001|UMLS:C0432040		Webbed 2nd and 3rd toes|2-3 syndactyly of feet|2-3 toe soft tissue syndactyly|2-3 toes syndactyly|Syndactyly of second and third toes|Toe syndactyly, 2-3|partial or complete syndactyly 2nd-3rd toes	http://purl.obolibrary.org/obo/HP_0004691	Syndactyly with fusion of toes two and three.
HP:0004692	4-5 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C1837836		Webbed 4th-5th toes|Symmetric syndactyly, toes 4 and 5|Syndactyly of toes 4 and 5	http://purl.obolibrary.org/obo/HP_0004692	Syndactyly with fusion of toes four and five.
HP:0004695	Calcaneal epiphyseal stippling	biolink:PhenotypicFeature	hp	UMLS:C1861708			http://purl.obolibrary.org/obo/HP_0004695	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.
HP:0004696	Talipes cavus equinovarus	biolink:PhenotypicFeature	hp	UMLS:C1832342			http://purl.obolibrary.org/obo/HP_0004696	
HP:0004699	Osteoporotic metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1836873			http://purl.obolibrary.org/obo/HP_0004699	Decrease in mass and density of the metatarsal bones.
HP:0004704	Short fifth metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4021649		Short 5th long bone of foot|Hypoplasia of the fifth metatarsal bone	http://purl.obolibrary.org/obo/HP_0004704	Short (hypoplastic) fifth metatarsal bone.
HP:0004712	Renal malrotation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49008000|UMLS:C0238210		Abnormal rotation of the kidneys|Malrotation of the kidney	http://purl.obolibrary.org/obo/HP_0004712	An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.
HP:0004713	Reversible renal failure	biolink:PhenotypicFeature	hp	UMLS:C1843276		Reversible kidney failure|Reversible renal failure	http://purl.obolibrary.org/obo/HP_0004713	Acute renal failure with resolution of manifestations.
HP:0004717	Axial malrotation of the kidney	biolink:PhenotypicFeature	hp	UMLS:C4025300			http://purl.obolibrary.org/obo/HP_0004717	An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.
HP:0004719	Hyperechogenic kidneys	biolink:PhenotypicFeature	hp	UMLS:C3275899		Echogenic kidneys|Increased echogenicity of the renal parenchyma	http://purl.obolibrary.org/obo/HP_0004719	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:264932002|UMLS:C0445347			http://purl.obolibrary.org/obo/HP_0004722	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	biolink:PhenotypicFeature	hp	UMLS:C1855801		Ca kidney stone|Ca nephrolithiasis|Ca2+ kidney stone|Ca2+ nephrolithiasis|Calcium kidney stone	http://purl.obolibrary.org/obo/HP_0004724	The presence of calcium-containing calculi (stones) in the kidneys.
HP:0004727	Impaired renal concentrating ability	biolink:PhenotypicFeature	hp	UMLS:C1859819		Urine concentrating defect|Urine concentration defect	http://purl.obolibrary.org/obo/HP_0004727	A defect in the ability to concentrate the urine.
HP:0004729	Acute tubulointerstitial nephritis	biolink:PhenotypicFeature	hp	MSH:C564356|UMLS:C1843274			http://purl.obolibrary.org/obo/HP_0004729	Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
HP:0004732	Impaired renal uric acid clearance	biolink:PhenotypicFeature	hp	UMLS:C1969371			http://purl.obolibrary.org/obo/HP_0004732	A reduction in the ability of the kidneys to remove uric acid from the serum.
HP:0004734	Renal cortical microcysts	biolink:PhenotypicFeature	hp	UMLS:C1865877		Cortical microcysts|Multiple renal cortical microcysts|Multiple small renal cortical cysts	http://purl.obolibrary.org/obo/HP_0004734	Cysts of microscopic size confined to the cortex of the kidney.
HP:0004736	Crossed fused renal ectopia	biolink:PhenotypicFeature	hp	UMLS:C1835796		Ectopic kidney with fusion	http://purl.obolibrary.org/obo/HP_0004736	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	biolink:PhenotypicFeature	hp	UMLS:C1865276			http://purl.obolibrary.org/obo/HP_0004737	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	biolink:PhenotypicFeature	hp	UMLS:C1851303		Abnormal collecting system|Abnormality of the renal collecting system|Renal collecting system anomalies	http://purl.obolibrary.org/obo/HP_0004742	An abnormality of the renal collecting system.
HP:0004743	Chronic tubulointerstitial nephritis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60926001|UMLS:C0238304			http://purl.obolibrary.org/obo/HP_0004743	Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
HP:0004746	Glomerular subendothelial electron-dense deposits	biolink:PhenotypicFeature	hp	MSH:D015432|SNOMEDCT_US:59479006|UMLS:C0268743		Dense deposit disease|Membranoproliferative glomerulonephritis type II	http://purl.obolibrary.org/obo/HP_0004746	Electron dense deposits at the glomerular basement membrane,
HP:0004749	Atrial flutter	biolink:PhenotypicFeature	hp	MSH:D001282|SNOMEDCT_US:5370000|UMLS:C0004239			http://purl.obolibrary.org/obo/HP_0004749	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66657009|UMLS:C0030591		Episodes of ventricular tachycardia	http://purl.obolibrary.org/obo/HP_0004751	Episodes of ventricular tachycardia that have a sudden onset and ending.
HP:0004752	Congenital atrioventricular dissociation	biolink:PhenotypicFeature	hp	UMLS:C4025299			http://purl.obolibrary.org/obo/HP_0004752	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:426749004|SNOMEDCT_US:440028005|UMLS:C0694539|UMLS:C2586056		Chronic atrial fibrillation	http://purl.obolibrary.org/obo/HP_0004754	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	biolink:PhenotypicFeature	hp	MSH:D013617|SNOMEDCT_US:6456007|UMLS:C0039240|UMLS:C1698480		SVT|Supraventricular tachyarrhythmia	http://purl.obolibrary.org/obo/HP_0004755	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	biolink:PhenotypicFeature	hp	Fyler:7160|MSH:D017180|SNOMEDCT_US:25569003|UMLS:C0042514			http://purl.obolibrary.org/obo/HP_0004756	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	biolink:PhenotypicFeature	hp	MSH:D001281|SNOMEDCT_US:282825002|UMLS:C0235480		Atrial fibrillation, paroxysmal	http://purl.obolibrary.org/obo/HP_0004757	Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
HP:0004758	Effort-induced polymorphic ventricular tachycardia	biolink:PhenotypicFeature	hp	UMLS:C4025298		Catecholaminergic polymorphic ventricular tachycardia|Exercise-induced polymorphic ventricular tachycardia	http://purl.obolibrary.org/obo/HP_0004758	Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.
HP:0004759	obsolete Nodular calcific aortic valve disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004759	
HP:0004760	obsolete Congenital septal defect	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004760	
HP:0004761	Post-angioplasty coronary artery restenosis	biolink:PhenotypicFeature	hp	UMLS:C2676505			http://purl.obolibrary.org/obo/HP_0004761	
HP:0004762	Hypoplasia of right ventricle	biolink:PhenotypicFeature	hp	Fyler:1821|UMLS:C4082954		Small right heart chamber|Underdeveloped right heart chamber|Heart right ventricle hypoplasia	http://purl.obolibrary.org/obo/HP_0004762	Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
HP:0004763	Paroxysmal supraventricular tachycardia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:67198005|UMLS:C0030590|UMLS:C4280507		Episodic rapid heart beat|Episodic supraventricular tachycardia	http://purl.obolibrary.org/obo/HP_0004763	An episodic form of supraventricular tachycardia with abrupt onset and termination.
HP:0004764	Myxomatous mitral valve degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253395003|SNOMEDCT_US:42069006|UMLS:C0264885			http://purl.obolibrary.org/obo/HP_0004764	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	biolink:PhenotypicFeature	hp	UMLS:C1866246		Sparse scalp hair at front of head|Thin scalp hair at front of head	http://purl.obolibrary.org/obo/HP_0004768	Decreased number of head hairs per unit area on the anterior region of the scalp.
HP:0004771	Premature graying of body hair	biolink:PhenotypicFeature	hp	UMLS:C1849125		Premature graying of body hair|Premature greying of body hair	http://purl.obolibrary.org/obo/HP_0004771	
HP:0004779	Brittle scalp hair	biolink:PhenotypicFeature	hp	UMLS:C4025296		Brittle scalp hair	http://purl.obolibrary.org/obo/HP_0004779	Fragile, easily breakable scalp hair.
HP:0004780	Elbow hypertrichosis	biolink:PhenotypicFeature	hp	UMLS:C4025295		Hairy elbow|Hairy elbow syndrome|Hypertrichosis cubiti|Pilosity of elbow	http://purl.obolibrary.org/obo/HP_0004780	Excessive, increased hair growth located in the elbow region.
HP:0004782	obsolete Hypotrichosis of the scalp	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004782	
HP:0004783	Duodenal polyposis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:301797007|UMLS:C0578477		Multiple duodenal polyps	http://purl.obolibrary.org/obo/HP_0004783	Presence of multiple polyps in the duodenum.
HP:0004784	Juvenile gastrointestinal polyposis	biolink:PhenotypicFeature	hp	UMLS:C4025294		Juvenile GI polyposis	http://purl.obolibrary.org/obo/HP_0004784	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6477005|UMLS:C0266196			http://purl.obolibrary.org/obo/HP_0004785	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	biolink:PhenotypicFeature	hp	UMLS:C4025293			http://purl.obolibrary.org/obo/HP_0004786	
HP:0004787	Fulminant hepatitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:427044009|UMLS:C0302809			http://purl.obolibrary.org/obo/HP_0004787	Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.
HP:0004788	Intestinal lymphedema	biolink:PhenotypicFeature	hp	UMLS:C4025292			http://purl.obolibrary.org/obo/HP_0004788	Fluid retention and edema in the intestine caused by a compromised lymphatic system.
HP:0004789	Lactose intolerance	biolink:PhenotypicFeature	hp	MSH:D007787|SNOMEDCT_US:267425008|SNOMEDCT_US:700094005|UMLS:C0022951		Lactose intolerance|Milk intolerance	http://purl.obolibrary.org/obo/HP_0004789	An inability to digest lactose.
HP:0004790	Hypoplasia of the small intestine	biolink:PhenotypicFeature	hp	UMLS:C4025291		Underdeveloped small intestine	http://purl.obolibrary.org/obo/HP_0004790	Underdevelopment of the small intestine.
HP:0004791	Esophageal ulceration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:30811009|UMLS:C0151970		Esophagus ulcer|Oesophagus ulceration	http://purl.obolibrary.org/obo/HP_0004791	Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
HP:0004792	Rectoperineal fistula	biolink:PhenotypicFeature	hp	UMLS:C0240880			http://purl.obolibrary.org/obo/HP_0004792	The presence of a fistula between the perineum and the rectum.
HP:0004794	Malrotation of small bowel	biolink:PhenotypicFeature	hp	UMLS:C1860244		Malrotation of the small intestine	http://purl.obolibrary.org/obo/HP_0004794	A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.
HP:0004795	Hamartomatous stomach polyps	biolink:PhenotypicFeature	hp	UMLS:C1862304			http://purl.obolibrary.org/obo/HP_0004795	Polyp-like protrusions which are histologically hamartomas located in the stomach.
HP:0004796	Gastrointestinal obstruction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:126765001|UMLS:C0236124		GI obstruction|Gastrointestinal obstruction|Obstruction in digestive tract	http://purl.obolibrary.org/obo/HP_0004796	
HP:0004797	Multiple small bowel atresias	biolink:PhenotypicFeature	hp	UMLS:C1857476			http://purl.obolibrary.org/obo/HP_0004797	The presence of multiple areas of atresia affecting the small intestine.
HP:0004798	Recurrent infection of the gastrointestinal tract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:715852004|UMLS:C1854495|UMLS:C4082764		Recurrent infection of the GI tract|Recurrent gastrointestinal infections|Recurrent infection of the gastrointestinal tract|Gastrointestinal infections|Gastrointestinal infections, recurrent	http://purl.obolibrary.org/obo/HP_0004798	Recurrent infection of the gastrointestinal tract.
HP:0004799	Jejunoileal diverticula	biolink:PhenotypicFeature	hp	UMLS:C4025290			http://purl.obolibrary.org/obo/HP_0004799	
HP:0004800	Duodenal diverticula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197083003|UMLS:C0341266			http://purl.obolibrary.org/obo/HP_0004800	
HP:0004802	Episodic hemolytic anemia	biolink:PhenotypicFeature	hp	UMLS:C1859495		Episodic hemolytic anaemia|Episodic hemolysis	http://purl.obolibrary.org/obo/HP_0004802	A form of hemolytic anemia that occurs in repeated episodes.
HP:0004804	Congenital hemolytic anemia	biolink:PhenotypicFeature	hp	MSH:D000745|SNOMEDCT_US:38911009|SNOMEDCT_US:42601008|UMLS:C0002881|UMLS:C4020827		Congenital hemolytic anaemia|Congenital haemolytic anemia|Neonatal hemolytic anemia	http://purl.obolibrary.org/obo/HP_0004804	A form of hemolytic anemia with congenital onset.
HP:0004808	Acute myeloid leukemia	biolink:PhenotypicFeature	hp	MSH:D015470|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|UMLS:C0023467		AML|Acute myeloid leukaemia|Acute myeloblastic leukemia|Acute myelocytic leukemia|Acute myelogenous leukemia	http://purl.obolibrary.org/obo/HP_0004808	A form of leukemia characterized by overproduction of an early myeloid cell.
HP:0004809	Neonatal alloimmune thrombocytopenia	biolink:PhenotypicFeature	hp	MSH:D054098|SNOMEDCT_US:240305000|UMLS:C3853779			http://purl.obolibrary.org/obo/HP_0004809	Low platelet count associated with maternal platelet-specific alloantibodies.
HP:0004810	Congenital hypoplastic anemia	biolink:PhenotypicFeature	hp	MSH:D000742|MSH:D029503|SNOMEDCT_US:234371002|SNOMEDCT_US:52951008|SNOMEDCT_US:88854002|UMLS:C0002876|UMLS:C1260899		Congenital hypoplastic anaemia|Congenital dyserythropoietic anemia	http://purl.obolibrary.org/obo/HP_0004810	A type of hypoplastic anemia with congenital onset.
HP:0004812	B Acute Lymphoblastic Leukemia	biolink:PhenotypicFeature	hp			B Acute Lymphoblastic Leukaemia|Pre-B-cell acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/HP_0004812	A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
HP:0004813	Post-transfusion thrombocytopenia	biolink:PhenotypicFeature	hp	MSH:C562868|SNOMEDCT_US:73162004|UMLS:C0398648|UMLS:C1868252		Post-transfusion purpura	http://purl.obolibrary.org/obo/HP_0004813	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	biolink:PhenotypicFeature	hp	UMLS:C4021648		Fava bean-induced hemolytic anaemia|Hemolytic anemia following ingestion of fava beans	http://purl.obolibrary.org/obo/HP_0004814	A kind of hemolytic anemia that is induced by the ingestion of fava beans.
HP:0004817	Drug-sensitive hemolytic anemia	biolink:PhenotypicFeature	hp	UMLS:C4025289		Drug-sensitive hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0004817	A form of hemolytic anemia that is triggered by ingestion of certain drugs.
HP:0004818	Paroxysmal nocturnal hemoglobinuria	biolink:PhenotypicFeature	hp	MSH:D006457|SNOMEDCT_US:1963002|UMLS:C0024790		Paroxysmal nocturnal haemoglobinuria	http://purl.obolibrary.org/obo/HP_0004818	
HP:0004819	Normocytic hypoplastic anemia	biolink:PhenotypicFeature	hp	UMLS:C1835875		Normocytic hypoplastic anaemia	http://purl.obolibrary.org/obo/HP_0004819	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	biolink:PhenotypicFeature	hp	MSH:D015479|SNOMEDCT_US:110005000|SNOMEDCT_US:277601005|SNOMEDCT_US:30962008|UMLS:C0023479		Acute myelomonocytic leukaemia	http://purl.obolibrary.org/obo/HP_0004820	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.
HP:0004821	Hypersegmentation of neutrophil nuclei	biolink:PhenotypicFeature	hp	UMLS:C4025288		Hypermature neutrophils|Hypersegmentation of neutrophil nuclei in peripheral blood	http://purl.obolibrary.org/obo/HP_0004821	An excessive division of the lobes of the nucleus of a neutrophil.
HP:0004822	Atypical elliptocytosis	biolink:PhenotypicFeature	hp	MSH:C565598|UMLS:C1857010			http://purl.obolibrary.org/obo/HP_0004822	
HP:0004823	Anisopoikilocytosis	biolink:PhenotypicFeature	hp	UMLS:C2675920			http://purl.obolibrary.org/obo/HP_0004823	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	biolink:PhenotypicFeature	hp	UMLS:C4021647		Increased Hb O2 affinity|Increased Hb oxygen affinity|Increased hemoglobin O2 affinity|Increased haemoglobin oxygen affinity	http://purl.obolibrary.org/obo/HP_0004825	An abnormal increase in the binding affinity of hemoglobin for oxygen.
HP:0004826	Folate-unresponsive megaloblastic anemia	biolink:PhenotypicFeature	hp	UMLS:C4025287		Folate-unresponsive megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0004826	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	biolink:PhenotypicFeature	hp	ICD-O:M9982/3|SNOMEDCT_US:109998009|SNOMEDCT_US:128846006|UMLS:C1264195		Refractory anaemia with ringed sideroblasts|Myelodysplasia with sideroblastosis	http://purl.obolibrary.org/obo/HP_0004828	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	biolink:PhenotypicFeature	hp	UMLS:C0749398|UMLS:C4025286		Recurrent thromboembolic disease	http://purl.obolibrary.org/obo/HP_0004831	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	biolink:PhenotypicFeature	hp	UMLS:C4025285			http://purl.obolibrary.org/obo/HP_0004835	The presence of erythrocytes that are sphere-shaped and reduced in size.
HP:0004836	Acute promyelocytic leukemia	biolink:PhenotypicFeature	hp	MSH:D015473|SNOMEDCT_US:110004001|SNOMEDCT_US:28950004|UMLS:C0023487		Acute promyelocytic leukaemia	http://purl.obolibrary.org/obo/HP_0004836	A type of acute myeloid leukemia in which abnormal promyelocytes predominate.
HP:0004839	Pyropoikilocytosis	biolink:PhenotypicFeature	hp	MSH:C563004|SNOMEDCT_US:9434008|UMLS:C0520739		hereditary pyropoikilocytosis	http://purl.obolibrary.org/obo/HP_0004839	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	biolink:PhenotypicFeature	hp	MSH:C536357|SNOMEDCT_US:44666001|UMLS:C0271901		Hypochromic microcytic anaemia|Hypochromic, microcytic anemia	http://purl.obolibrary.org/obo/HP_0004840	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	biolink:PhenotypicFeature	hp	MSH:D005175|SNOMEDCT_US:46981006|UMLS:C0015526		Factor XII deficiency|Hageman factor deficiency	http://purl.obolibrary.org/obo/HP_0004841	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:74789008|UMLS:C0520736		Coombs-positive hemolytic anaemia|Direct Coombs positive	http://purl.obolibrary.org/obo/HP_0004844	A type of hemolytic anemia in which the Coombs test is positive.
HP:0004845	Acute monocytic leukemia	biolink:PhenotypicFeature	hp	MSH:D007948|SNOMEDCT_US:22331004|SNOMEDCT_US:413441006|UMLS:C0023465		AML-M5|AMoL|Acute monocytic leukaemia|Acute monoblastic leukemia	http://purl.obolibrary.org/obo/HP_0004845	The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.
HP:0004846	Prolonged bleeding after surgery	biolink:PhenotypicFeature	hp	UMLS:C4021646		Excessive bleeding during surgery|Prolonged bleeding after surgery|Protracted bleeding after surgery	http://purl.obolibrary.org/obo/HP_0004846	Bleeding that persists longer than the normal time following a surgical procedure.
HP:0004848	Ph-positive acute lymphoblastic leukemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:425688002|SNOMEDCT_US:426955004|UMLS:C1960397		Ph-positive acute lymphoblastic leukaemia|Philadelphia-positive acute lymphoblastic leukemia	http://purl.obolibrary.org/obo/HP_0004848	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:710167004|UMLS:C1735901		Recurrent deep vein blood clot|Recurrent venous thrombosis	http://purl.obolibrary.org/obo/HP_0004850	Repeated episodes of the formation of a blot clot in a deep vein.
HP:0004851	Folate-responsive megaloblastic anemia	biolink:PhenotypicFeature	hp	UMLS:C2749656		Folate-responsive megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0004851	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	biolink:PhenotypicFeature	hp	UMLS:C1850780		Reduced leukocyte ALP|Low leukocyte alkaline phosphatase	http://purl.obolibrary.org/obo/HP_0004852	Decreased alkaline phosphatase measured within leukocytes.
HP:0004854	Intermittent thrombocytopenia	biolink:PhenotypicFeature	hp	UMLS:C1839167			http://purl.obolibrary.org/obo/HP_0004854	Reduced platelet count that occurs sporadically, i.e., it comes and goes.
HP:0004855	Reduced protein S activity	biolink:PhenotypicFeature	hp	MSH:D018455|SNOMEDCT_US:1563006|UMLS:C0242666|UMLS:C4025284		Protein S deficiency	http://purl.obolibrary.org/obo/HP_0004855	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4984008|UMLS:C0271902		Normochromic microcytic anaemia	http://purl.obolibrary.org/obo/HP_0004856	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	biolink:PhenotypicFeature	hp	UMLS:C3854594		Hyperchromic macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0004857	A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.
HP:0004859	Amegakaryocytic thrombocytopenia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:234482009|UMLS:C0398639			http://purl.obolibrary.org/obo/HP_0004859	Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
HP:0004860	Thiamine-responsive megaloblastic anemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:12907000|UMLS:C0271972		Thiamine-responsive megaloblastic anaemia	http://purl.obolibrary.org/obo/HP_0004860	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	biolink:PhenotypicFeature	hp	UMLS:C2675059		Refractory macrocytic anaemia	http://purl.obolibrary.org/obo/HP_0004861	
HP:0004863	Compensated hemolytic anemia	biolink:PhenotypicFeature	hp	UMLS:C4025283		Compensated hemolytic anaemia	http://purl.obolibrary.org/obo/HP_0004863	
HP:0004864	Refractory sideroblastic anemia	biolink:PhenotypicFeature	hp	MSH:D000756|SNOMEDCT_US:41841004|UMLS:C0002896		Refractory sideroblastic anaemia	http://purl.obolibrary.org/obo/HP_0004864	A type of sideroblastic anemia that is not responsive to treatment.
HP:0004866	Impaired ADP-induced platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C4025282			http://purl.obolibrary.org/obo/HP_0004866	Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
HP:0004870	Chronic hemolytic anemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:707480001|UMLS:C1387532		Chronic hemolytic anaemia|hemolytic anemia, chronic	http://purl.obolibrary.org/obo/HP_0004870	An chronic form of hemolytic anemia.
HP:0004871	Perineal fistula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:284077005|UMLS:C0561921			http://purl.obolibrary.org/obo/HP_0004871	The presence of a fistula between the bowel and the perineum.
HP:0004872	Incisional hernia	biolink:PhenotypicFeature	hp	MSH:D000069290|SNOMEDCT_US:236037000|SNOMEDCT_US:241556001|UMLS:C0267716|UMLS:C4021645		Recurrent abdominal hernia	http://purl.obolibrary.org/obo/HP_0004872	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	biolink:PhenotypicFeature	hp	UMLS:C4025281			http://purl.obolibrary.org/obo/HP_0004875	
HP:0004876	Spontaneous neonatal pneumothorax	biolink:PhenotypicFeature	hp	UMLS:C1857021		Neonatal pneumothorax	http://purl.obolibrary.org/obo/HP_0004876	Pneumothorax occurring neonatally without traumatic injury to the chest or lung.
HP:0004878	Intercostal muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C0240017		Muscle weakness between ribs|Dependence on diaphragmatic breathing	http://purl.obolibrary.org/obo/HP_0004878	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:423427003|UMLS:C1828017		Intermittent overbreathing|Episodic hyperventilation	http://purl.obolibrary.org/obo/HP_0004879	Episodic hyperventilation.
HP:0004880	Respiratory infections in early life	biolink:PhenotypicFeature	hp	UMLS:C4025280			http://purl.obolibrary.org/obo/HP_0004880	Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.
HP:0004881	Episodic hypoventilation	biolink:PhenotypicFeature	hp	UMLS:C1844946		Episodic slow breathing|Episodic under breathing	http://purl.obolibrary.org/obo/HP_0004881	
HP:0004885	Episodic respiratory distress	biolink:PhenotypicFeature	hp	UMLS:C1844945		Episodic difficulty breathing|respiratory distress, episodic	http://purl.obolibrary.org/obo/HP_0004885	
HP:0004886	Congenital laryngeal stridor	biolink:PhenotypicFeature	hp	SNOMEDCT_US:55490007|UMLS:C0265763			http://purl.obolibrary.org/obo/HP_0004886	
HP:0004887	Respiratory failure requiring assisted ventilation	biolink:PhenotypicFeature	hp	UMLS:C4025279		Respiratory distress necessitating mechanical ventilation|Respiratory distress requiring endotracheal intubation|Respiratory distress requiring mechanical ventilation	http://purl.obolibrary.org/obo/HP_0004887	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	biolink:PhenotypicFeature	hp	UMLS:C3807025			http://purl.obolibrary.org/obo/HP_0004889	
HP:0004890	Elevated pulmonary artery pressure	biolink:PhenotypicFeature	hp	UMLS:C3805917		increased pulmonary artery pressure|Elevated lung artery pressure	http://purl.obolibrary.org/obo/HP_0004890	An abnormally elevated blood pressure in the circulation of the pulmonary artery.
HP:0004891	Recurrent infections due to aspiration	biolink:PhenotypicFeature	hp	UMLS:C3806285			http://purl.obolibrary.org/obo/HP_0004891	Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.
HP:0004894	Laryngotracheal stenosis	biolink:PhenotypicFeature	hp	UMLS:C3806280			http://purl.obolibrary.org/obo/HP_0004894	
HP:0004897	Stress/infection-induced lactic acidosis	biolink:PhenotypicFeature	hp	UMLS:C4025278		Metabolic crises during febrile infections	http://purl.obolibrary.org/obo/HP_0004897	A form of lactic acidemia that occurs in relation to stress or infection.
HP:0004898	Persistent lactic acidosis	biolink:PhenotypicFeature	hp	UMLS:C3554538			http://purl.obolibrary.org/obo/HP_0004898	A continuous form of lactic acidemia.
HP:0004900	Severe lactic acidosis	biolink:PhenotypicFeature	hp	UMLS:C1839436			http://purl.obolibrary.org/obo/HP_0004900	A severe form of lactic acidemia.
HP:0004901	Exercise-induced lactic acidemia	biolink:PhenotypicFeature	hp	UMLS:C4025277		Exercise-induced lactic acidosis	http://purl.obolibrary.org/obo/HP_0004901	A form of lactic acidemia that occurs following exercise or exertion.
HP:0004902	Congenital lactic acidosis	biolink:PhenotypicFeature	hp	UMLS:C4025276			http://purl.obolibrary.org/obo/HP_0004902	A form of lactic acidemia with congenital onset.
HP:0004904	Maturity-onset diabetes of the young	biolink:PhenotypicFeature	hp	MSH:C562772|SNOMEDCT_US:609561005|UMLS:C0342276		MODY|Maturity onset diabetes of the young	http://purl.obolibrary.org/obo/HP_0004904	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	biolink:PhenotypicFeature	hp	MSH:D014802|SNOMEDCT_US:72000004|UMLS:C0042842		Vitamin A deficiency	http://purl.obolibrary.org/obo/HP_0004905	A reduced concentration of vitamin A.
HP:0004906	Hypernatremic dehydration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:427784006|UMLS:C1850544			http://purl.obolibrary.org/obo/HP_0004906	
HP:0004909	Hypokalemic hypochloremic metabolic alkalosis	biolink:PhenotypicFeature	hp	UMLS:C0740896			http://purl.obolibrary.org/obo/HP_0004909	
HP:0004910	Bicarbonate-wasting renal tubular acidosis	biolink:PhenotypicFeature	hp	UMLS:C1858626		HCO3-wasting renal tubular acidosis|Renal bicarbonate wasting	http://purl.obolibrary.org/obo/HP_0004910	
HP:0004911	Episodic metabolic acidosis	biolink:PhenotypicFeature	hp	UMLS:C1859516		Recurrent episodes of acidosis	http://purl.obolibrary.org/obo/HP_0004911	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	biolink:PhenotypicFeature	hp	MSH:D063730|SNOMEDCT_US:66266003|UMLS:C1704375			http://purl.obolibrary.org/obo/HP_0004912	
HP:0004913	Intermittent lactic acidemia	biolink:PhenotypicFeature	hp	UMLS:C1844917			http://purl.obolibrary.org/obo/HP_0004913	An intermittent (discontinuous) form of lactic acidemia.
HP:0004914	Recurrent infantile hypoglycemia	biolink:PhenotypicFeature	hp	UMLS:C4021644		Recurrent low blood sugar in infant|Episodic infantile hypoglycemia	http://purl.obolibrary.org/obo/HP_0004914	Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.
HP:0004915	Impairment of galactose metabolism	biolink:PhenotypicFeature	hp	UMLS:C4021643		Impaired galactose metabolism	http://purl.obolibrary.org/obo/HP_0004915	An impairment of galactose metabolism.
HP:0004916	Generalized distal tubular acidosis	biolink:PhenotypicFeature	hp	UMLS:C4025275		Generalised distal tubular acidosis	http://purl.obolibrary.org/obo/HP_0004916	
HP:0004918	Hyperchloremic metabolic acidosis	biolink:PhenotypicFeature	hp	UMLS:C1969073		Non-gap acidosis	http://purl.obolibrary.org/obo/HP_0004918	A form of metabolic acidosis with increased serum chloride levels.
HP:0004919	Galactose intolerance	biolink:PhenotypicFeature	hp	MSH:D005693|SNOMEDCT_US:190745006|SNOMEDCT_US:190749000|UMLS:C0016952			http://purl.obolibrary.org/obo/HP_0004919	
HP:0004920	Phenylpyruvic acidemia	biolink:PhenotypicFeature	hp	UMLS:C1849926			http://purl.obolibrary.org/obo/HP_0004920	
HP:0004921	Abnormal magnesium concentration	biolink:PhenotypicFeature	hp	UMLS:C4020826|UMLS:C4025274		Abnormal Mg concentration|Abnormality of magnesium homeostasis|Abnormal magnesium metabolism	http://purl.obolibrary.org/obo/HP_0004921	An abnormality of magnesium ion homeostasis.
HP:0004922	Atypical hyperphenylalaninemia	biolink:PhenotypicFeature	hp	UMLS:C4025273			http://purl.obolibrary.org/obo/HP_0004922	
HP:0004923	Hyperphenylalaninemia	biolink:PhenotypicFeature	hp	MSH:D010661|SNOMEDCT_US:68528007|UMLS:C0751435			http://purl.obolibrary.org/obo/HP_0004923	An increased concentration of L-phenylalanine in the blood.
HP:0004924	Abnormal oral glucose tolerance	biolink:PhenotypicFeature	hp	UMLS:C1847425		Abnormal glucose oral tolerance test	http://purl.obolibrary.org/obo/HP_0004924	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	biolink:PhenotypicFeature	hp	UMLS:C1839437			http://purl.obolibrary.org/obo/HP_0004925	A chronic form of lactic acidemia.
HP:0004926	Orthostatic hypotension due to autonomic dysfunction	biolink:PhenotypicFeature	hp	UMLS:C1868528			http://purl.obolibrary.org/obo/HP_0004926	
HP:0004927	Pulmonary artery dilatation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:251047005|UMLS:C0428851			http://purl.obolibrary.org/obo/HP_0004927	An abnormal widening of the diameter of the pulmonary artery.
HP:0004928	obsolete Peripheral arterial stenosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004928	
HP:0004929	obsolete Coronary atherosclerosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004929	
HP:0004930	Abnormality of the pulmonary vasculature	biolink:PhenotypicFeature	hp	UMLS:C4025271		Abnormality of the lung blood vessels	http://purl.obolibrary.org/obo/HP_0004930	
HP:0004931	Arteriosclerosis of small cerebral arteries	biolink:PhenotypicFeature	hp	UMLS:C4025270|UMLS:C4280505		Hardened artery wall in small cerebral arteries	http://purl.obolibrary.org/obo/HP_0004931	Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
HP:0004933	Ascending aortic dissection	biolink:PhenotypicFeature	hp	UMLS:C1836653		Type A aortic dissection	http://purl.obolibrary.org/obo/HP_0004933	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	biolink:PhenotypicFeature	hp	MSH:D061205|SNOMEDCT_US:237897009|UMLS:C0342649			http://purl.obolibrary.org/obo/HP_0004934	Abnormal calcification of the vasculature.
HP:0004935	Pulmonary artery atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10930001|SNOMEDCT_US:204443008|UMLS:C0265908		Pulmonary atresia	http://purl.obolibrary.org/obo/HP_0004935	A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
HP:0004936	Venous thrombosis	biolink:PhenotypicFeature	hp	MSH:D020246|SNOMEDCT_US:111293003|UMLS:C0042487		Blood clot in vein	http://purl.obolibrary.org/obo/HP_0004936	Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
HP:0004937	Pulmonary artery aneurysm	biolink:PhenotypicFeature	hp	SNOMEDCT_US:194892009|UMLS:C0155676			http://purl.obolibrary.org/obo/HP_0004937	An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.
HP:0004938	Tortuous cerebral arteries	biolink:PhenotypicFeature	hp	UMLS:C1836791		Twisted cerebral arteries	http://purl.obolibrary.org/obo/HP_0004938	Excessive bending, twisting, and winding of a cerebral artery.
HP:0004940	Generalized arterial calcification	biolink:PhenotypicFeature	hp	UMLS:C4025269		Generalised arterial calcification	http://purl.obolibrary.org/obo/HP_0004940	Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.
HP:0004941	Extrahepatic portal hypertension	biolink:PhenotypicFeature	hp	UMLS:C4025268			http://purl.obolibrary.org/obo/HP_0004941	Increased pressure in the pre-hepatic portal vein.
HP:0004942	Aortic aneurysm	biolink:PhenotypicFeature	hp	Fyler:2301|Fyler:2708|MSH:D001014|SNOMEDCT_US:67362008|UMLS:C0003486		Bulge in wall of large artery that carries blood away from heart|Aortic dilatation	http://purl.obolibrary.org/obo/HP_0004942	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	biolink:PhenotypicFeature	hp	UMLS:C1849618|UMLS:C4280504		Accelerated plaque build-up in arteries	http://purl.obolibrary.org/obo/HP_0004943	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	biolink:PhenotypicFeature	hp	MSH:D002532|SNOMEDCT_US:128608001|UMLS:C0751003|UMLS:C1290398		Brain aneurysm|Intracranial aneurysm|Cerebral aneurysm|Cerebral artery aneurysm	http://purl.obolibrary.org/obo/HP_0004944	The presence of a localized dilatation or ballooning of a cerebral artery.
HP:0004945	Extracranial internal carotid artery dissection	biolink:PhenotypicFeature	hp	UMLS:C4025267			http://purl.obolibrary.org/obo/HP_0004945	A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.
HP:0004947	Arteriovenous fistula	biolink:PhenotypicFeature	hp	MSH:D001164|SNOMEDCT_US:128617001|SNOMEDCT_US:439470001|UMLS:C0003855		Arteriovenous fistulas	http://purl.obolibrary.org/obo/HP_0004947	An abnormal connection between an artery and vein.
HP:0004948	Vascular tortuosity	biolink:PhenotypicFeature	hp	UMLS:C2673776		Twisted blood vessels	http://purl.obolibrary.org/obo/HP_0004948	Abnormal twisting of arteries or veins.
HP:0004950	Peripheral arterial stenosis	biolink:PhenotypicFeature	hp	MSH:D016491|MSH:D058729|SNOMEDCT_US:399957001|SNOMEDCT_US:400047006|UMLS:C0085096|UMLS:C1704436		Peripheral artery disease|Arterial disease of legs|Occlusive arterial disease|Occlusive vascular disease|Peripheral artery occlusive disease|Peripheral vascular disease	http://purl.obolibrary.org/obo/HP_0004950	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	biolink:PhenotypicFeature	hp	MSH:C562404|SNOMEDCT_US:111289009|UMLS:C0155675			http://purl.obolibrary.org/obo/HP_0004952	A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.
HP:0004953	obsolete Dilatation of abdominal aorta	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004953	
HP:0004954	obsolete Dilatation of the descending aorta	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004954	
HP:0004955	Generalized arterial tortuosity	biolink:PhenotypicFeature	hp	UMLS:C1836651|UMLS:C3279191		Generalized twisted arteries|Generalised arterial tortuosity|Arterial tortuosity, general|Arterial tortuosity, generalized	http://purl.obolibrary.org/obo/HP_0004955	Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.
HP:0004959	Descending thoracic aorta aneurysm	biolink:PhenotypicFeature	hp	Fyler:2754|UMLS:C4025266		Dilatation of the descending thoracic aorta	http://purl.obolibrary.org/obo/HP_0004959	An abnormal localized widening (dilatation) of the descending thoracic aorta.
HP:0004960	Absent pulmonary artery	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86252004|UMLS:C0265905		Absent lung artery|Missing pulmonary artery	http://purl.obolibrary.org/obo/HP_0004960	A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.
HP:0004961	Pulmonary artery sling	biolink:PhenotypicFeature	hp	UMLS:C1856123			http://purl.obolibrary.org/obo/HP_0004961	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	biolink:PhenotypicFeature	hp	UMLS:C1969292			http://purl.obolibrary.org/obo/HP_0004962	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	biolink:PhenotypicFeature	hp	UMLS:C1096249			http://purl.obolibrary.org/obo/HP_0004963	Calcification, that is, pathological deposition of calcium salts in the aorta.
HP:0004964	Pulmonary arterial medial hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1504382		Hypertrophy of the pulmonary artery wall	http://purl.obolibrary.org/obo/HP_0004964	Increase in mass of the tunica media of the arteries in the pulmonary circulation.
HP:0004966	Medial calcification of large arteries	biolink:PhenotypicFeature	hp	UMLS:C4025265			http://purl.obolibrary.org/obo/HP_0004966	Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.
HP:0004968	Recurrent cerebral hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C4025264		Recurrent cerebral haemorrhage|Recurrent hemorrhagic stroke	http://purl.obolibrary.org/obo/HP_0004968	Recurrent bleeding into the parenchyma of the brain.
HP:0004969	Peripheral pulmonary artery stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253631001|UMLS:C0345030		Narrowing of peripheral lung artery|Peripheral pulmonic stenosis|peripheral pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0004969	Stenosis of a peripheral branch of the pulmonary artery.
HP:0004970	Ascending tubular aorta aneurysm	biolink:PhenotypicFeature	hp	Fyler:2310|Fyler:2701|SNOMEDCT_US:253645007|UMLS:C0345049		Bulging of wall of large artery located above heart|Ascending aorta dilation|Aneurysm of the ascending tubular aorta|Ascending aortic aneurysm|Ascending aortic dilation|Dilatation of ascending aorta	http://purl.obolibrary.org/obo/HP_0004970	An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
HP:0004971	Pulmonary artery hypoplasia	biolink:PhenotypicFeature	hp	Fyler:2966|SNOMEDCT_US:54682008|UMLS:C0265910		Underdeveloped lung artery|Underdeveloped pulmonary artery	http://purl.obolibrary.org/obo/HP_0004971	Underdevelopment of the pulmonary artery.
HP:0004972	Elevated mean arterial pressure	biolink:PhenotypicFeature	hp	UMLS:C1840376			http://purl.obolibrary.org/obo/HP_0004972	An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.
HP:0004974	Coarctation of abdominal aorta	biolink:PhenotypicFeature	hp	UMLS:C4025263			http://purl.obolibrary.org/obo/HP_0004974	Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.
HP:0004975	Erlenmeyer flask deformity of the femurs	biolink:PhenotypicFeature	hp	UMLS:C1855895		Erlenmeyer flask shaped thighbone|Erlenmeyer flask deformity of distal femur|Erlenmeyer flask femora	http://purl.obolibrary.org/obo/HP_0004975	Flaring of distal femur.
HP:0004976	Knee dislocation	biolink:PhenotypicFeature	hp	MSH:D031221|SNOMEDCT_US:58320001|UMLS:C0159970		Dislocations of the knees|Knee dislocations	http://purl.obolibrary.org/obo/HP_0004976	
HP:0004977	Bilateral radial aplasia	biolink:PhenotypicFeature	hp	UMLS:C1848840		Bilateral absence of radius	http://purl.obolibrary.org/obo/HP_0004977	Missing radius bone on both sides associated with congenital failure of development.
HP:0004979	Metaphyseal sclerosis	biolink:PhenotypicFeature	hp	UMLS:C3552526		Increased bone density in wide portion of long bone|Sclerotic metaphyses	http://purl.obolibrary.org/obo/HP_0004979	Abnormally increased density of metaphyseal bone.
HP:0004980	Metaphyseal rarefaction	biolink:PhenotypicFeature	hp	UMLS:C1832146		Rarefaction of the metaphyses	http://purl.obolibrary.org/obo/HP_0004980	Reduction in density of metaphyseal bony tissue.
HP:0004981	Prominent styloid process of ulna	biolink:PhenotypicFeature	hp	UMLS:C4025262			http://purl.obolibrary.org/obo/HP_0004981	
HP:0004986	obsolete Rudimentary to absent fibulae	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0004986	
HP:0004987	Mesomelic leg shortening	biolink:PhenotypicFeature	hp	UMLS:C1969178		Mesomelia of the lower limbs|Mesomelic lower limb shortening	http://purl.obolibrary.org/obo/HP_0004987	Shortening of the middle parts of the leg in relation to the upper and terminal segments.
HP:0004990	Epiphyseal streaking	biolink:PhenotypicFeature	hp	UMLS:C1858039			http://purl.obolibrary.org/obo/HP_0004990	
HP:0004991	Rhizomelic arm shortening	biolink:PhenotypicFeature	hp	UMLS:C1969532			http://purl.obolibrary.org/obo/HP_0004991	Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
HP:0004993	Slender long bones with narrow diaphyses	biolink:PhenotypicFeature	hp	UMLS:C2675547		Slender long bones with narrow shaft	http://purl.obolibrary.org/obo/HP_0004993	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	biolink:PhenotypicFeature	hp	UMLS:C1857192			http://purl.obolibrary.org/obo/HP_0004997	
HP:0005001	Recurrent patellar dislocation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202246002|UMLS:C0409412		Recurrent dislocation of patellas	http://purl.obolibrary.org/obo/HP_0005001	Patellar dislocation occurring repeated times.
HP:0005003	Aplasia/Hypoplasia of the capital femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4025261		Absent/small end part of innermost thighbone|Absent/underdeveloped end part of innermost thighbone	http://purl.obolibrary.org/obo/HP_0005003	Absence or underdevelopment of the proximal epiphysis of the femur.
HP:0005004	Flattened proximal radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1849065			http://purl.obolibrary.org/obo/HP_0005004	An abnormally flat form of the proximal epiphysis of the radius.
HP:0005005	Femoral bowing present at birth, straightening with time	biolink:PhenotypicFeature	hp	UMLS:C1833754		Bowing of thighbone at birth, straightening with time	http://purl.obolibrary.org/obo/HP_0005005	Congenital onset bending or abnormal curvature of the femur that normalizes with age.
HP:0005008	Large joint dislocations	biolink:PhenotypicFeature	hp	UMLS:C4025260		Large joint dislocations	http://purl.obolibrary.org/obo/HP_0005008	
HP:0005009	Dumbbell-shaped humerus	biolink:PhenotypicFeature	hp	UMLS:C4025259		Dumbbell-shaped long bone in upper arm	http://purl.obolibrary.org/obo/HP_0005009	The humerus is shortened and displays flaring (widening) of the metaphyses.
HP:0005010	Osteomyelitis leading to amputation due to slow healing fractures	biolink:PhenotypicFeature	hp	UMLS:C1864975			http://purl.obolibrary.org/obo/HP_0005010	
HP:0005011	Mesomelic arm shortening	biolink:PhenotypicFeature	hp	UMLS:C1862087		Mesomelia of the upper limbs|Upper limb brachymesomelia	http://purl.obolibrary.org/obo/HP_0005011	Shortening of the middle parts of the arm in relation to the upper and terminal segments.
HP:0005013	Dysplastic distal radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1862131			http://purl.obolibrary.org/obo/HP_0005013	Abnormally developed (dysplastic) distal epiphysis of the radius.
HP:0005017	Polyarticular chondrocalcinosis	biolink:PhenotypicFeature	hp	UMLS:C4025258			http://purl.obolibrary.org/obo/HP_0005017	
HP:0005019	Diaphyseal thickening	biolink:PhenotypicFeature	hp	UMLS:C1835473		Thickening of shaft or central part of long bones	http://purl.obolibrary.org/obo/HP_0005019	
HP:0005021	Bilateral elbow dislocations	biolink:PhenotypicFeature	hp	UMLS:C3278429		Dislocated elbows on both sides	http://purl.obolibrary.org/obo/HP_0005021	
HP:0005025	Hypoplastic distal humeri	biolink:PhenotypicFeature	hp	UMLS:C1968607			http://purl.obolibrary.org/obo/HP_0005025	Underdevelopment of the distal portion of the humerus.
HP:0005026	Mesomelic/rhizomelic limb shortening	biolink:PhenotypicFeature	hp	UMLS:C1866239			http://purl.obolibrary.org/obo/HP_0005026	
HP:0005028	Widened proximal tibial metaphyses	biolink:PhenotypicFeature	hp	UMLS:C1836187		Wide innermost wide portion of shankbone bone|Wide innermost wide portion of shinbone bone	http://purl.obolibrary.org/obo/HP_0005028	
HP:0005033	Distal ulnar hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1833145		Distal shortening of ulna|Hypoplastic distal ulna	http://purl.obolibrary.org/obo/HP_0005033	Underdevelopment of the distal portion of the ulna.
HP:0005035	Shortening of all phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4025257		Short toe bones	http://purl.obolibrary.org/obo/HP_0005035	Developmental hypoplasia (shortening) of all phalanges of the foot.
HP:0005036	Unilateral ulnar hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1837832			http://purl.obolibrary.org/obo/HP_0005036	Underdevelopment of the ulna on only one side.
HP:0005037	Proximal radio-ulnar synostosis	biolink:PhenotypicFeature	hp	UMLS:C2676443			http://purl.obolibrary.org/obo/HP_0005037	An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.
HP:0005039	Multiple long-bone exostoses	biolink:PhenotypicFeature	hp	UMLS:C1835583		Multiple exostoses of long tubular bones	http://purl.obolibrary.org/obo/HP_0005039	Multiple exostoses originating in long bones.
HP:0005041	Irregular capital femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4020825		Irregular end part of innermost thighbone|Irregular proximal femoral epiphyses|Irregular capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0005041	Irregular surface of the normally relatively smooth capital femoral epiphysis.
HP:0005042	Irregular, rachitic-like metaphyses	biolink:PhenotypicFeature	hp	UMLS:C1866700			http://purl.obolibrary.org/obo/HP_0005042	
HP:0005043	Proximal humeral metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C1865128		Irregular proximal humeral metaphyses	http://purl.obolibrary.org/obo/HP_0005043	Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).
HP:0005045	Diaphyseal cortical sclerosis	biolink:PhenotypicFeature	hp	UMLS:C1833739			http://purl.obolibrary.org/obo/HP_0005045	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	biolink:PhenotypicFeature	hp	UMLS:C1836193		Fusion of wrist bones	http://purl.obolibrary.org/obo/HP_0005048	
HP:0005050	Anterolateral radial head dislocation	biolink:PhenotypicFeature	hp	UMLS:C1968610		Anterior/lateral radial head dislocation	http://purl.obolibrary.org/obo/HP_0005050	A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.
HP:0005054	Metaphyseal spurs	biolink:PhenotypicFeature	hp	UMLS:C1832988			http://purl.obolibrary.org/obo/HP_0005054	Bony outgrowths that extend laterally from the margin of the metaphysis.
HP:0005059	Arthralgia/arthritis	biolink:PhenotypicFeature	hp	UMLS:C4025256		Joint pain/Joint inflammation	http://purl.obolibrary.org/obo/HP_0005059	
HP:0005060	Limited elbow flexion/extension	biolink:PhenotypicFeature	hp	UMLS:C1968605			http://purl.obolibrary.org/obo/HP_0005060	
HP:0005063	Fragmented, irregular epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1867494		Fragmented, irregular end part of bone	http://purl.obolibrary.org/obo/HP_0005063	
HP:0005066	Cone-shaped epiphyses fused within their metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025255		Cone-shaped end part of long bone fused within their wide portion of wide bone	http://purl.obolibrary.org/obo/HP_0005066	
HP:0005067	Proximal fibular overgrowth	biolink:PhenotypicFeature	hp	UMLS:C2673395		Overgrowth of innermost part of calf bone	http://purl.obolibrary.org/obo/HP_0005067	Overgrowth of the proximal part of the fibula.
HP:0005068	Absent styloid process of ulna	biolink:PhenotypicFeature	hp	UMLS:C4025254			http://purl.obolibrary.org/obo/HP_0005068	
HP:0005069	Rhizo-meso-acromelic limb shortening	biolink:PhenotypicFeature	hp	UMLS:C2673654			http://purl.obolibrary.org/obo/HP_0005069	
HP:0005070	Proximal radial head dislocation	biolink:PhenotypicFeature	hp	UMLS:C1865570			http://purl.obolibrary.org/obo/HP_0005070	A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.
HP:0005072	Hyperextensibility at wrists	biolink:PhenotypicFeature	hp	UMLS:C1850853		Increased wrist mobility|Increased laxity of wrists	http://purl.obolibrary.org/obo/HP_0005072	The ability of the wrist joints to move beyond their normal range of motion.
HP:0005084	Anterior radial head dislocation	biolink:PhenotypicFeature	hp	UMLS:C2674451		Anterior dislocation of radial head	http://purl.obolibrary.org/obo/HP_0005084	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	biolink:PhenotypicFeature	hp	UMLS:C1968606			http://purl.obolibrary.org/obo/HP_0005085	A limited ability of the knee joint to perform extension and flexion.
HP:0005086	Knee osteoarthritis	biolink:PhenotypicFeature	hp	MSH:D020370|SNOMEDCT_US:239873007|UMLS:C0409959			http://purl.obolibrary.org/obo/HP_0005086	
HP:0005089	Abnormal metaphyseal trabeculation	biolink:PhenotypicFeature	hp	UMLS:C1857139			http://purl.obolibrary.org/obo/HP_0005089	An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.
HP:0005090	Lateral femoral bowing	biolink:PhenotypicFeature	hp	UMLS:C1866737			http://purl.obolibrary.org/obo/HP_0005090	A lateral bending or abnormal curvature of the femur.
HP:0005092	Streaky metaphyseal sclerosis	biolink:PhenotypicFeature	hp	UMLS:C4025253		Streak increase in bone density in wide portion of wide bone	http://purl.obolibrary.org/obo/HP_0005092	The presence of streaks (bands) of abnormally increased density of metaphyseal bone.
HP:0005093	Absent proximal radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1855301			http://purl.obolibrary.org/obo/HP_0005093	Absence of the proximal radial epiphysis.
HP:0005096	Distal femoral bowing	biolink:PhenotypicFeature	hp	UMLS:C1860107			http://purl.obolibrary.org/obo/HP_0005096	A bending or abnormal curvature of the distal portion of the femur.
HP:0005099	Severe hydrops fetalis	biolink:PhenotypicFeature	hp	UMLS:C1866048		Severe hydrops	http://purl.obolibrary.org/obo/HP_0005099	
HP:0005100	Premature birth following premature rupture of fetal membranes	biolink:PhenotypicFeature	hp	UMLS:C1851833		Premature birth following premature rupture of foetal membranes	http://purl.obolibrary.org/obo/HP_0005100	
HP:0005101	High-frequency hearing impairment	biolink:PhenotypicFeature	hp	MSH:D006316|SNOMEDCT_US:232326009|SNOMEDCT_US:48758008|UMLS:C0018780		Hearing loss, high-frequency|High frequency hearing loss|Progressive high frequency hearing loss|High-frequency deafness|Progressive high-frequency hearing loss	http://purl.obolibrary.org/obo/HP_0005101	A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
HP:0005102	Cochlear degeneration	biolink:PhenotypicFeature	hp	UMLS:C1849095		Progressive cochlear degeneration	http://purl.obolibrary.org/obo/HP_0005102	Deterioration or loss of the tissues of the cochlea.
HP:0005103	Calcification of the auricular cartilage	biolink:PhenotypicFeature	hp	UMLS:C1408806		Cartilaginous ossification of pinnae|Ossification of pinnae|Petrified ear|Ear cartilage calcification	http://purl.obolibrary.org/obo/HP_0005103	Ossification affecting the external ear cartilage.
HP:0005104	Hypoplastic nasal septum	biolink:PhenotypicFeature	hp	UMLS:C1861328		Decreased size of nasal septum|Decreased size of septum of nose|Small nasal septum|Small septum of nose|Hypoplasia of septum of nose	http://purl.obolibrary.org/obo/HP_0005104	Underdevelopment of the nasal septum.
HP:0005105	Abnormal nasal morphology	biolink:PhenotypicFeature	hp	Fyler:4870|UMLS:C4025252		Abnormal of nasal shape|Abnormal of shape of nose|Abnormal nose morphology|Abnormal of morphology of nose	http://purl.obolibrary.org/obo/HP_0005105	
HP:0005106	Abnormality of the vertebral endplates	biolink:PhenotypicFeature	hp	UMLS:C4025251			http://purl.obolibrary.org/obo/HP_0005106	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	biolink:PhenotypicFeature	hp	UMLS:C4025250	hposlim_core	Abnormality of the sacrum	http://purl.obolibrary.org/obo/HP_0005107	An abnormality of the sacral bone.
HP:0005108	Abnormality of the intervertebral disk	biolink:PhenotypicFeature	hp	UMLS:C4025249	hposlim_core	Abnormality of the intervertebral disc	http://purl.obolibrary.org/obo/HP_0005108	An abnormality of the intervertebral disk.
HP:0005109	Abnormality of the Achilles tendon	biolink:PhenotypicFeature	hp	UMLS:C4021642		Abnormality of the Achilles tendon|Abnormality of the calcaneal tendon	http://purl.obolibrary.org/obo/HP_0005109	An abnormality of the Achilles tendon.
HP:0005110	Atrial fibrillation	biolink:PhenotypicFeature	hp	MSH:D001281|SNOMEDCT_US:49436004|UMLS:C0004238		Quivering upper heart chambers resulting in irregular heartbeat	http://purl.obolibrary.org/obo/HP_0005110	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:0005111	obsolete Dilatation of the ascending aorta	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005111	
HP:0005112	Abdominal aortic aneurysm	biolink:PhenotypicFeature	hp	UMLS:C4025248		Dilatation of the abdominal aorta	http://purl.obolibrary.org/obo/HP_0005112	An abnormal localized widening (dilatation) of the abdominal aorta.
HP:0005113	Aortic arch aneurysm	biolink:PhenotypicFeature	hp	Fyler:2706|UMLS:C1851119		Aortic arch dilatation|Dilatation of the aortic arch	http://purl.obolibrary.org/obo/HP_0005113	An abnormal localized widening (dilatation) of the aortic arch.
HP:0005114	obsolete Abnormalities of the peripheral arteries	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005114	
HP:0005115	Supraventricular arrhythmia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:72654001|UMLS:C0428974		arrhythmias, Supraventricular	http://purl.obolibrary.org/obo/HP_0005115	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	biolink:PhenotypicFeature	hp	UMLS:C3279191			http://purl.obolibrary.org/obo/HP_0005116	Abnormal tortuous (i.e., twisted) form of arteries.
HP:0005117	Elevated diastolic blood pressure	biolink:PhenotypicFeature	hp	UMLS:C1840375		Elevated diastolic BP	http://purl.obolibrary.org/obo/HP_0005117	Abnormal increase in diastolic blood pressure.
HP:0005120	Abnormal cardiac atrium morphology	biolink:PhenotypicFeature	hp	UMLS:C4025246		Abnormality of heart atrium|Abnormality of cardiac atrium morphology	http://purl.obolibrary.org/obo/HP_0005120	Any structural abnormality of a cardiac atrium.
HP:0005121	Posterior scalloping of vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1850196		Posterior vertebral body scalloping	http://purl.obolibrary.org/obo/HP_0005121	An excessive concavity of the posterior surface of one or more vertebral bodies.
HP:0005129	Congenital hypertrophy of left ventricle	biolink:PhenotypicFeature	hp	UMLS:C1855901			http://purl.obolibrary.org/obo/HP_0005129	
HP:0005130	obsolete Restrictive heart failure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005130	
HP:0005132	Pericardial constriction	biolink:PhenotypicFeature	hp	UMLS:C0240709			http://purl.obolibrary.org/obo/HP_0005132	Compression of the heart caused by rigid, thickened, or fused pericardial membranes.
HP:0005133	Right ventricular dilatation	biolink:PhenotypicFeature	hp	Fyler:1827|Fyler:2333|SNOMEDCT_US:253522006|UMLS:C0344893		Dilated heart right ventricle	http://purl.obolibrary.org/obo/HP_0005133	Enlargement of the chamber of the right ventricle.
HP:0005134	Absence of the pulmonary valve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6996004|UMLS:C0265831		Absent pulmonary valve	http://purl.obolibrary.org/obo/HP_0005134	Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.
HP:0005135	Abnormal T-wave	biolink:PhenotypicFeature	hp	UMLS:C4025245		EKG: T-wave abnormalities|T-wave abnormalities	http://purl.obolibrary.org/obo/HP_0005135	An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.
HP:0005136	Mitral annular calcification	biolink:PhenotypicFeature	hp	UMLS:C1835130		Premature calcification of mitral annulus	http://purl.obolibrary.org/obo/HP_0005136	Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.
HP:0005141	obsolete Episodes of ventricular tachycardia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005141	
HP:0005143	Anomalous origin of right pulmonary artery from ascending aorta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253634009|UMLS:C0345037			http://purl.obolibrary.org/obo/HP_0005143	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	biolink:PhenotypicFeature	hp	UMLS:C1845019		Thickened interventricular septum	http://purl.obolibrary.org/obo/HP_0005144	The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
HP:0005145	Coronary artery stenosis	biolink:PhenotypicFeature	hp	MSH:D023921|SNOMEDCT_US:233970002|UMLS:C0242231		Narrowing of coronary artery	http://purl.obolibrary.org/obo/HP_0005145	Abnormal narrowing of the coronary artery.
HP:0005146	Cardiac valve calcification	biolink:PhenotypicFeature	hp	UMLS:C1856483		Calcifications of the cardiac valves	http://purl.obolibrary.org/obo/HP_0005146	Abnormal calcification of a cardiac valve.
HP:0005147	Bidirectional ventricular ectopy	biolink:PhenotypicFeature	hp	UMLS:C1969410			http://purl.obolibrary.org/obo/HP_0005147	
HP:0005148	Pulmonary valve defects	biolink:PhenotypicFeature	hp	UMLS:C1860165			http://purl.obolibrary.org/obo/HP_0005148	Any defect in the valve connecting the heart and the pulmonary artery.
HP:0005150	Abnormal atrioventricular conduction	biolink:PhenotypicFeature	hp	UMLS:C4025244			http://purl.obolibrary.org/obo/HP_0005150	An impairment of the electrical continuity between the atria and ventricles.
HP:0005151	Preductal coarctation of the aorta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:13867009|UMLS:C0265878		Proximal aortic coarctation	http://purl.obolibrary.org/obo/HP_0005151	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	biolink:PhenotypicFeature	hp	MSH:C535584|UMLS:C1708371		Arachnocytosis of the myocardium|Foamy myocardial transformation|Focal lipid cardiomyopathy|Infantile cardiomyopathy with histiocytoid changes|Infantile xanthomatous cardiomyopathy|Isolated cardiac lipidosis|Myocardial or conduction system hamartoma|Oncocytic cardiomyopathy	http://purl.obolibrary.org/obo/HP_0005152	A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.
HP:0005155	Ventricular escape rhythm	biolink:PhenotypicFeature	hp	SNOMEDCT_US:81898007|UMLS:C0232216		Idioventricular escape rhythm	http://purl.obolibrary.org/obo/HP_0005155	A ventircular 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	biolink:PhenotypicFeature	hp	Fyler:3040|UMLS:C1970625		Left atrium hypoplasia|Underdeveloped left heart atrium	http://purl.obolibrary.org/obo/HP_0005156	Underdeveloped, small left heart atrium
HP:0005157	Concentric hypertrophic cardiomyopathy	biolink:PhenotypicFeature	hp	UMLS:C0238044		Symmetric, concentric, hypertrophic cardiomyopathy	http://purl.obolibrary.org/obo/HP_0005157	Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
HP:0005160	Total anomalous pulmonary venous return	biolink:PhenotypicFeature	hp	Fyler:0900|Fyler:900|MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400		Total anomalous pulmonary venous connection|Total anomalous pulmonary venous drainage	http://purl.obolibrary.org/obo/HP_0005160	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	biolink:PhenotypicFeature	hp	MSH:D006333|SNOMEDCT_US:275514001|SNOMEDCT_US:85232009|UMLS:C0023212|UMLS:C0553982		Impaired left ventricular function|Left ventricular dysfunction|Left ventricular failure|Left ventricular impairment|Left-sided heart failure	http://purl.obolibrary.org/obo/HP_0005162	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	biolink:PhenotypicFeature	hp	UMLS:C1866206			http://purl.obolibrary.org/obo/HP_0005164	A congenital malformation of the pulmonary valve characterized by leaflet deformation.
HP:0005165	Shortened PR interval	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49578007|UMLS:C0520878		Electrocardiographic short PR interval|Short P-R interval|Shortened PR interval on EKG	http://purl.obolibrary.org/obo/HP_0005165	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	biolink:PhenotypicFeature	hp	UMLS:C1867421			http://purl.obolibrary.org/obo/HP_0005168	An abnormal increase in magnitude of the pressure in the right atrium.
HP:0005170	Complete heart block with broad QRS complexes	biolink:PhenotypicFeature	hp	UMLS:C1861987			http://purl.obolibrary.org/obo/HP_0005170	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62026008|UMLS:C0264913		Left posterior hemiblock	http://purl.obolibrary.org/obo/HP_0005172	Conduction block in the posterior division of the left bundle branch of the bundle of His.
HP:0005173	obsolete Calcific aortic valve stenosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005173	
HP:0005174	Membranous subvalvular aortic stenosis	biolink:PhenotypicFeature	hp	UMLS:C1848978			http://purl.obolibrary.org/obo/HP_0005174	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	biolink:PhenotypicFeature	hp	UMLS:C1866207			http://purl.obolibrary.org/obo/HP_0005176	A congenital malformation of the aortic valve characterized by leaflet deformation.
HP:0005177	Premature arteriosclerosis	biolink:PhenotypicFeature	hp	UMLS:C1848486|UMLS:C4280503		Premature hardening of arteries	http://purl.obolibrary.org/obo/HP_0005177	Arteriosclerosis occurring at an age that is younger than usual.
HP:0005178	Complete heart block with narrow QRS complexes	biolink:PhenotypicFeature	hp	UMLS:C1841661			http://purl.obolibrary.org/obo/HP_0005178	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	biolink:PhenotypicFeature	hp	Fyler:1161|MSH:D014262|SNOMEDCT_US:111287006|UMLS:C0040961		Tricuspid insufficiency|Tricuspid valve regurgitation	http://purl.obolibrary.org/obo/HP_0005180	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	biolink:PhenotypicFeature	hp	UMLS:C1867743		Premature coronary artery disease	http://purl.obolibrary.org/obo/HP_0005181	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	biolink:PhenotypicFeature	hp	Fyler:1601|SNOMEDCT_US:253599005|UMLS:C0344987			http://purl.obolibrary.org/obo/HP_0005182	The presence of a bicuspid pulmonary valve.
HP:0005183	Pericardial lymphangiectasia	biolink:PhenotypicFeature	hp	UMLS:C1856140			http://purl.obolibrary.org/obo/HP_0005183	An abnormal dilatation of lymph vessels in the pericardium.
HP:0005184	Prolonged QTc interval	biolink:PhenotypicFeature	hp	UMLS:C1560305			http://purl.obolibrary.org/obo/HP_0005184	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	biolink:PhenotypicFeature	hp	UMLS:C1847397			http://purl.obolibrary.org/obo/HP_0005185	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	biolink:PhenotypicFeature	hp	MSH:D013585|SNOMEDCT_US:240206002|UMLS:C0410574			http://purl.obolibrary.org/obo/HP_0005186	
HP:0005187	Progressive joint destruction	biolink:PhenotypicFeature	hp	UMLS:C4025243			http://purl.obolibrary.org/obo/HP_0005187	
HP:0005190	Proximal finger joint hyperextensibility	biolink:PhenotypicFeature	hp	UMLS:C4025242			http://purl.obolibrary.org/obo/HP_0005190	
HP:0005191	Congenital knee dislocation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59068006|UMLS:C0265669		Dislocated knee since birth	http://purl.obolibrary.org/obo/HP_0005191	
HP:0005193	Restricted large joint movement	biolink:PhenotypicFeature	hp	UMLS:C4025241			http://purl.obolibrary.org/obo/HP_0005193	
HP:0005194	Flattened metatarsal heads	biolink:PhenotypicFeature	hp	UMLS:C4025240		Flattened head of long bone of foot	http://purl.obolibrary.org/obo/HP_0005194	Abnormally flat shape of the heads of the metatarsal bones.
HP:0005195	Polyarticular arthropathy	biolink:PhenotypicFeature	hp	UMLS:C4025239			http://purl.obolibrary.org/obo/HP_0005195	
HP:0005197	Generalized morning stiffness	biolink:PhenotypicFeature	hp	UMLS:C4025238		Generalised morning stiffness	http://purl.obolibrary.org/obo/HP_0005197	A sensation of stiffness in the joints that occurs following waking up in the morning.
HP:0005198	Stiff interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C4025237		Stiff hinge joints	http://purl.obolibrary.org/obo/HP_0005198	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	biolink:PhenotypicFeature	hp	UMLS:C3149223		Absent abdominal musculature	http://purl.obolibrary.org/obo/HP_0005199	Absence of the abdominal musculature.
HP:0005200	Retroperitoneal fibrosis	biolink:PhenotypicFeature	hp	MSH:D012185|SNOMEDCT_US:49120005|UMLS:C0035357			http://purl.obolibrary.org/obo/HP_0005200	
HP:0005201	Anomalous splenoportal venous system	biolink:PhenotypicFeature	hp	UMLS:C4025236			http://purl.obolibrary.org/obo/HP_0005201	
HP:0005202	Helicobacter pylori infection	biolink:PhenotypicFeature	hp	UMLS:C0850666			http://purl.obolibrary.org/obo/HP_0005202	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	biolink:PhenotypicFeature	hp	MSH:C536571|SNOMEDCT_US:19995004|UMLS:C0238115		Spontaneous esophageal rupture|Boerhaave syndrome	http://purl.obolibrary.org/obo/HP_0005203	The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.
HP:0005206	Pancreatic pseudocyst	biolink:PhenotypicFeature	hp	MSH:D010192|SNOMEDCT_US:111374002|UMLS:C0030299			http://purl.obolibrary.org/obo/HP_0005206	Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.
HP:0005207	Gastric hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1834341|UMLS:C4280502		Increased stomach size	http://purl.obolibrary.org/obo/HP_0005207	Hypertrophy of the stomach.
HP:0005208	Secretory diarrhea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15699003|UMLS:C0267557		Secretory diarrhoea	http://purl.obolibrary.org/obo/HP_0005208	Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
HP:0005209	Intrahepatic bile duct cysts	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235925007|UMLS:C0400991			http://purl.obolibrary.org/obo/HP_0005209	The presence of cyst of the intrahepatic bile duct.
HP:0005210	Hypoplastic colon	biolink:PhenotypicFeature	hp	UMLS:C1392839		Hypoplasia of the colon|Underdeveloped colon	http://purl.obolibrary.org/obo/HP_0005210	Underdevelopment of the colon.
HP:0005211	Midgut malrotation	biolink:PhenotypicFeature	hp	UMLS:C1849706			http://purl.obolibrary.org/obo/HP_0005211	
HP:0005212	Anal mucosal leukoplakia	biolink:PhenotypicFeature	hp	UMLS:C1844632			http://purl.obolibrary.org/obo/HP_0005212	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	biolink:PhenotypicFeature	hp	UMLS:C1842406		Pancreatic calcifications	http://purl.obolibrary.org/obo/HP_0005213	The presence of abnormal calcium deposition lesions in the pancreas.
HP:0005214	Intestinal obstruction	biolink:PhenotypicFeature	hp	MSH:D007415|SNOMEDCT_US:81060008|UMLS:C0021843		Bowel obstruction|Intestinal blockage|Intestinal obstruction	http://purl.obolibrary.org/obo/HP_0005214	Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
HP:0005215	Frequent Giardia lamblia infestation	biolink:PhenotypicFeature	hp	UMLS:C4025235			http://purl.obolibrary.org/obo/HP_0005215	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:162020001|UMLS:C0239043		Chewing difficulties|Chewing difficulty|Difficulty chewing	http://purl.obolibrary.org/obo/HP_0005216	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	biolink:PhenotypicFeature	hp	UMLS:C4025234			http://purl.obolibrary.org/obo/HP_0005217	
HP:0005218	Anoperineal fistula	biolink:PhenotypicFeature	hp	UMLS:C1835798		Perianal fistula	http://purl.obolibrary.org/obo/HP_0005218	The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.
HP:0005219	Absence of intrinsic factor	biolink:PhenotypicFeature	hp	UMLS:C4021641		Intrinsic factor absent from gastric juice	http://purl.obolibrary.org/obo/HP_0005219	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	biolink:PhenotypicFeature	hp	UMLS:C4025233			http://purl.obolibrary.org/obo/HP_0005220	
HP:0005222	Bowel diverticulosis	biolink:PhenotypicFeature	hp	UMLS:C1394691|UMLS:C1395674		Bowel diverticula	http://purl.obolibrary.org/obo/HP_0005222	The presence of multiple diverticula of the intestine.
HP:0005223	Duplicated colon	biolink:PhenotypicFeature	hp	UMLS:C1850328			http://purl.obolibrary.org/obo/HP_0005223	
HP:0005224	Rectal abscess	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197166005|SNOMEDCT_US:91669008|UMLS:C0149770|UMLS:C0267566		Perirectal abscess	http://purl.obolibrary.org/obo/HP_0005224	A collection of pus in the area of the rectum.
HP:0005225	Intestinal edema	biolink:PhenotypicFeature	hp	UMLS:C1142262		Intestinal oedema	http://purl.obolibrary.org/obo/HP_0005225	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	biolink:PhenotypicFeature	hp	MEDDRA:10056981|UMLS:C1868071		Multiple adenomatous colon polyps|Multiple colonic adenomatous polyps	http://purl.obolibrary.org/obo/HP_0005227	Presence of multiple adenomatous polyps in the colon.
HP:0005229	Jejunoileal ulceration	biolink:PhenotypicFeature	hp	UMLS:C4025232			http://purl.obolibrary.org/obo/HP_0005229	
HP:0005230	Biliary tract obstruction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235918000|UMLS:C0400979			http://purl.obolibrary.org/obo/HP_0005230	Obstruction affecting the biliary tree.
HP:0005231	Chronic gastritis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8493009|UMLS:C0085695			http://purl.obolibrary.org/obo/HP_0005231	A chronic form of gastritis.
HP:0005232	Pancreatic dysplasia	biolink:PhenotypicFeature	hp	UMLS:C4019084			http://purl.obolibrary.org/obo/HP_0005232	The presence of developmental dysplasia of the pancreas.
HP:0005233	Hypoplasia of the gallbladder	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93259002|UMLS:C0345282		Hypoplastic gallbladder	http://purl.obolibrary.org/obo/HP_0005233	The presence of a hypoplastic gallbladder.
HP:0005234	Neonatal intestinal obstruction	biolink:PhenotypicFeature	hp	UMLS:C0859974			http://purl.obolibrary.org/obo/HP_0005234	
HP:0005235	Jejunal atresia	biolink:PhenotypicFeature	hp	MSH:D007409|SNOMEDCT_US:204702007|SNOMEDCT_US:360491009|UMLS:C0266175			http://purl.obolibrary.org/obo/HP_0005235	A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.
HP:0005236	Chronic calcifying pancreatitis	biolink:PhenotypicFeature	hp	UMLS:C4025231			http://purl.obolibrary.org/obo/HP_0005236	A form of chronic pancreatitis that is characterized by calcification.
HP:0005237	Degenerative liver disease	biolink:PhenotypicFeature	hp	UMLS:C4025230			http://purl.obolibrary.org/obo/HP_0005237	The presence of degenerative changes of the liver.
HP:0005238	Discrete intestinal polyps	biolink:PhenotypicFeature	hp	UMLS:C4025229			http://purl.obolibrary.org/obo/HP_0005238	
HP:0005240	Esophageal obstruction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405247003|UMLS:C0239296			http://purl.obolibrary.org/obo/HP_0005240	
HP:0005241	Total intestinal aganglionosis	biolink:PhenotypicFeature	hp	MSH:C538058|SNOMEDCT_US:204745000|UMLS:C0345240			http://purl.obolibrary.org/obo/HP_0005241	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	biolink:PhenotypicFeature	hp	MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008|UMLS:C0005411		Biliary atresia, extrahepatic	http://purl.obolibrary.org/obo/HP_0005242	Atresia in the extrahepatic bile duct.
HP:0005243	Partial abdominal muscle agenesis	biolink:PhenotypicFeature	hp	UMLS:C4025228			http://purl.obolibrary.org/obo/HP_0005243	Failure to form of portions of the abdominal musculature.
HP:0005244	Gastrointestinal infarctions	biolink:PhenotypicFeature	hp	UMLS:C3152231		GI infarctions|Death of digestive organ tissue due to poor blood supply	http://purl.obolibrary.org/obo/HP_0005244	
HP:0005245	Intestinal hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4021640		Underdeveloped instestine|Hypoplastic intestines	http://purl.obolibrary.org/obo/HP_0005245	Developmental hypoplasia of the intestine.
HP:0005246	Giant hypertrophic gastritis	biolink:PhenotypicFeature	hp	MSH:D005758|SNOMEDCT_US:413219009|SNOMEDCT_US:60002000|UMLS:C0017155		Menetrier disease	http://purl.obolibrary.org/obo/HP_0005246	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	biolink:PhenotypicFeature	hp	UMLS:C3279407		Abdominal muscular hypoplasia	http://purl.obolibrary.org/obo/HP_0005247	Underdevelopment of the abdominal musculature.
HP:0005248	Intrahepatic biliary atresia	biolink:PhenotypicFeature	hp	UMLS:C1855284		Bile duct paucity|Intrahepatic atresia of biliary duct	http://purl.obolibrary.org/obo/HP_0005248	Atresia in the intrahepatic bile duct.
HP:0005249	Functional intestinal obstruction	biolink:PhenotypicFeature	hp	UMLS:C3639956			http://purl.obolibrary.org/obo/HP_0005249	
HP:0005250	High intestinal obstruction	biolink:PhenotypicFeature	hp	UMLS:C4025227			http://purl.obolibrary.org/obo/HP_0005250	
HP:0005253	Increased anterioposterior diameter of thorax	biolink:PhenotypicFeature	hp	UMLS:C1848760		Increased anterioposterior diameter of chest	http://purl.obolibrary.org/obo/HP_0005253	
HP:0005254	Unilateral chest hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1845576		Small chest on one side|Underdeveloped chest on one side	http://purl.obolibrary.org/obo/HP_0005254	
HP:0005255	Absence of pectoralis minor muscle	biolink:PhenotypicFeature	hp	UMLS:C1868158		Pectoralis minor aplasia	http://purl.obolibrary.org/obo/HP_0005255	Aplasia (congenital absence) of the pectoralis minor.
HP:0005256	Unilateral absence of pectoralis major muscle	biolink:PhenotypicFeature	hp	UMLS:C4021639		Unilateral aplasia of pectoralis major muscle	http://purl.obolibrary.org/obo/HP_0005256	Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.
HP:0005257	Thoracic hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1837482		Small chest|Small thorax	http://purl.obolibrary.org/obo/HP_0005257	
HP:0005258	Pectoral muscle hypoplasia/aplasia	biolink:PhenotypicFeature	hp	UMLS:C4025226		Small/absent pec muscle|Underdeveloped/absent pec muscle	http://purl.obolibrary.org/obo/HP_0005258	
HP:0005259	Abnormal facility in opposing the shoulders	biolink:PhenotypicFeature	hp	UMLS:C1861517			http://purl.obolibrary.org/obo/HP_0005259	
HP:0005261	Joint hemorrhage	biolink:PhenotypicFeature	hp	MSH:D006395|SNOMEDCT_US:81808003|UMLS:C0018924		Bleeding within a joint|Hemarthrosis|Hemarthroses|Joint haemorrhage|Spontaneous joint hemorrhage	http://purl.obolibrary.org/obo/HP_0005261	Hemorrhage occurring within a joint.
HP:0005262	Abnormality of the synovia	biolink:PhenotypicFeature	hp	UMLS:C4025225			http://purl.obolibrary.org/obo/HP_0005262	
HP:0005263	Gastritis	biolink:PhenotypicFeature	hp	MEDDRA:10017853|MSH:D005756|SNOMEDCT_US:4556007|UMLS:C0017152	hposlim_core	Stomach inflammation	http://purl.obolibrary.org/obo/HP_0005263	The presence of inflammation of the gastric mucous membrane.
HP:0005264	Abnormality of the gallbladder	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253803008|SNOMEDCT_US:49714001|UMLS:C0266249		Abnormality of the gallbladder|Anomaly of the gallbladder	http://purl.obolibrary.org/obo/HP_0005264	An abnormality of the gallbladder.
HP:0005265	Abnormal jejunum morphology	biolink:PhenotypicFeature	hp	UMLS:C4025224		Abnormality of the jejunum	http://purl.obolibrary.org/obo/HP_0005265	An abnormality of the jejunum, i.e., of the middle section of the small intestine.
HP:0005266	Intestinal polyp	biolink:PhenotypicFeature	hp	MSH:D007417|SNOMEDCT_US:254588001|UMLS:C0021846		Intestinal polyps	http://purl.obolibrary.org/obo/HP_0005266	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	biolink:PhenotypicFeature	hp	UMLS:C1851808			http://purl.obolibrary.org/obo/HP_0005267	
HP:0005268	Spontaneous abortion	biolink:PhenotypicFeature	hp	MSH:D000022|SNOMEDCT_US:17369002|UMLS:C0000786		Miscarriage	http://purl.obolibrary.org/obo/HP_0005268	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 20th week of pregnancy.
HP:0005272	Prominent nasolabial fold	biolink:PhenotypicFeature	hp	UMLS:C1866487	hposlim_core	Deep laugh lines|Deep smile lines|Prominent laugh lines|Prominent smile lines|Deep nasolabial crease|Deep nasolabial fold|Deep nasolabial groove|Nasolabial crease, prominent|Prominent nasolabial groove	http://purl.obolibrary.org/obo/HP_0005272	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	biolink:PhenotypicFeature	hp	UMLS:C4021638|UMLS:C4280501	hposlim_core	Absent nasal septal cartilage|Absent nasal septum|Failure of development of nasal septal cartilage|Ageneis of nasal septal cartilage	http://purl.obolibrary.org/obo/HP_0005273	Lack of the cartilage of the nasal septum.
HP:0005274	Prominent nasal tip	biolink:PhenotypicFeature	hp	UMLS:C1856118|UMLS:C4280498|UMLS:C4280499|UMLS:C4280500		Large nasal tip|Large tip of nose|Prominent nasal tip|Prominent tip of nose|Pronounced nasal tip|Pronounced tip of nose|Bulbous tip of nose|Hyperplasia of nasal tip|Hyperplasia of tip of nose|Hypertrophy of nasal tip|Hypertrophy of tip of nose	http://purl.obolibrary.org/obo/HP_0005274	
HP:0005275	Cartilaginous ossification of nose	biolink:PhenotypicFeature	hp	UMLS:C1855616		Cartilaginous nasal ossification	http://purl.obolibrary.org/obo/HP_0005275	
HP:0005278	Hypoplastic nasal tip	biolink:PhenotypicFeature	hp	UMLS:C1844731|UMLS:C4280496|UMLS:C4280497		Decreased size of nasal tip|Decreased size of tip of nose|Small nasal tip|Small tip of nose|Underdevelopment of nasal tip|Underdevelopment of tip of nose|Deficient nasal tip|Hypoplasia of tip of nose|Aplasia of nasal tip|Hypotrophic nasal tip|Hypotrophic tip of nose	http://purl.obolibrary.org/obo/HP_0005278	
HP:0005280	Depressed nasal bridge	biolink:PhenotypicFeature	hp	UMLS:C1836542|UMLS:C3550546|UMLS:C4280495	hposlim_core	Depressed bridge of nose|Depressed nasal bridge|Flat bridge of nose|Flat nasal bridge|Flat, nasal bridge|Flattened nasal bridge|Low nasal bridge|Low nasal root|Concave bridge of nose|Concave nasal bridge|Depressed nasal root|Flat nasal root|Retruded bridge of nose|Retruded nasal bridge|Depressed nasal root/bridge	http://purl.obolibrary.org/obo/HP_0005280	Posterior positioning of the nasal root in relation to the overall facial profile for age.
HP:0005281	Hypoplastic nasal bridge	biolink:PhenotypicFeature	hp	UMLS:C1865597|UMLS:C4280494		Decreased size of nasal bridge|Small bridge of nose|Small nasal bridge|Decreased size of bridge of nose|Hypoplastic bridge of nose|Hypotrophic bridge of nose|Hypotrophic nasal bridge	http://purl.obolibrary.org/obo/HP_0005281	
HP:0005285	Absent nasal bridge	biolink:PhenotypicFeature	hp	UMLS:C1837888		Absent bridge of nose|Absent nasal bridge|Missing bridge of nose|Missing nasal bridge|Agenesis of bridge of nose|Agenesis of nasal bridge	http://purl.obolibrary.org/obo/HP_0005285	
HP:0005288	Abnormality of the nares	biolink:PhenotypicFeature	hp	UMLS:C4021637	hposlim_core	Abnormality of the nostrils|Deformity of the nostrils|Malformation of the nostrils|Anomaly of the nares|Deformity of the nares|Malformation of the nares	http://purl.obolibrary.org/obo/HP_0005288	Abnormality of the nostril.
HP:0005289	Abnormality of the nasolabial region	biolink:PhenotypicFeature	hp	UMLS:C4025223		Anomaly of the nasolabial region|Deformity of the nasolabial region|Malformation of the nasolabial region	http://purl.obolibrary.org/obo/HP_0005289	
HP:0005290	Internal carotid artery hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1855736|UMLS:C4280491|UMLS:C4280492|UMLS:C4280493		Decreased size of internal carotid artery|Small internal carotid artery|Aplasia of internal carotid artery|Deficiency of internal carotid artery|Hypotrophic internal carotid artery	http://purl.obolibrary.org/obo/HP_0005290	
HP:0005291	Inflammatory arteriopathy	biolink:PhenotypicFeature	hp	UMLS:C4025222			http://purl.obolibrary.org/obo/HP_0005291	
HP:0005292	Intimal thickening in the coronary arteries	biolink:PhenotypicFeature	hp	UMLS:C1968633			http://purl.obolibrary.org/obo/HP_0005292	
HP:0005293	Venous insufficiency	biolink:PhenotypicFeature	hp	MSH:D014689|SNOMEDCT_US:20696009|UMLS:C0042485		Poorly functioning veins	http://purl.obolibrary.org/obo/HP_0005293	
HP:0005294	Arterial dissection	biolink:PhenotypicFeature	hp	MSH:D000784|SNOMEDCT_US:233992003|SNOMEDCT_US:26845001|SNOMEDCT_US:710864009|SNOMEDCT_US:9406001|UMLS:C0002949			http://purl.obolibrary.org/obo/HP_0005294	A separation (dissection) of the layers of an artery.
HP:0005295	Pseudocoarctation of the aorta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70602002|UMLS:C0345088			http://purl.obolibrary.org/obo/HP_0005295	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:0005296	obsolete Occlusive vascular disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005296	
HP:0005297	Premature occlusive vascular stenosis	biolink:PhenotypicFeature	hp	UMLS:C1867457			http://purl.obolibrary.org/obo/HP_0005297	Peripheral arterial stenosis with onset before the age of 50 years.
HP:0005298	obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005298	
HP:0005299	obsolete Premature peripheral vascular disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005299	
HP:0005300	Nodular inflammatory vasculitis	biolink:PhenotypicFeature	hp	UMLS:C4025219			http://purl.obolibrary.org/obo/HP_0005300	
HP:0005301	Persistent left superior vena cava	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77978002|UMLS:C0265931		PLSVC	http://purl.obolibrary.org/obo/HP_0005301	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:401051003|UMLS:C1303076		Tortuous carotid arteries	http://purl.obolibrary.org/obo/HP_0005302	Abnormal tortuous (i.e., twisted) form of the carotid arteries.
HP:0005303	Aortic arch calcification	biolink:PhenotypicFeature	hp	UMLS:C1969291			http://purl.obolibrary.org/obo/HP_0005303	Calcification, that is, pathological deposition of calcium salts in the arch of aorta.
HP:0005304	Hypoplastic pulmonary veins	biolink:PhenotypicFeature	hp	UMLS:C1970501		Underdeveloped lung veins	http://purl.obolibrary.org/obo/HP_0005304	
HP:0005305	Cerebral venous thrombosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95455008|UMLS:C0151945		Blood clot in cerebral vein|Cerebral thrombosis|Cerebral vein thrombosis	http://purl.obolibrary.org/obo/HP_0005305	Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
HP:0005306	Capillary hemangioma	biolink:PhenotypicFeature	hp	MSH:D018324|SNOMEDCT_US:195382003|SNOMEDCT_US:254206003|SNOMEDCT_US:402867006|SNOMEDCT_US:56975005|SNOMEDCT_US:83343001|UMLS:C0206733	hposlim_core	Strawberry birthmark|Capillary hemangioma	http://purl.obolibrary.org/obo/HP_0005306	The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.
HP:0005307	Postural hypotension with compensatory tachycardia	biolink:PhenotypicFeature	hp	UMLS:C1850438			http://purl.obolibrary.org/obo/HP_0005307	
HP:0005308	Pulmonary artery vasoconstriction	biolink:PhenotypicFeature	hp	UMLS:C1867424			http://purl.obolibrary.org/obo/HP_0005308	
HP:0005309	obsolete Peripheral vascular insufficiency	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005309	
HP:0005310	Large vessel vasculitis	biolink:PhenotypicFeature	hp	UMLS:C4025218			http://purl.obolibrary.org/obo/HP_0005310	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	biolink:PhenotypicFeature	hp	UMLS:C1970630		Absent lung vessels	http://purl.obolibrary.org/obo/HP_0005311	A developmental defect characterized by the lack of formation of the pulmonary blood vessels.
HP:0005312	Pulmonary aterial intimal fibrosis	biolink:PhenotypicFeature	hp	UMLS:C4025217			http://purl.obolibrary.org/obo/HP_0005312	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.
HP:0005313	Arterial fibromuscular dysplasia	biolink:PhenotypicFeature	hp	MSH:D005352|SNOMEDCT_US:31653004|SNOMEDCT_US:359553002|UMLS:C0016052			http://purl.obolibrary.org/obo/HP_0005313	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	biolink:PhenotypicFeature	hp	UMLS:C1847886			http://purl.obolibrary.org/obo/HP_0005314	
HP:0005315	obsolete Peripheral artery occlusive disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005315	
HP:0005316	Peripheral pulmonary vessel aplasia	biolink:PhenotypicFeature	hp	UMLS:C1848877			http://purl.obolibrary.org/obo/HP_0005316	
HP:0005317	Increased pulmonary vascular resistance	biolink:PhenotypicFeature	hp	UMLS:C1867423			http://purl.obolibrary.org/obo/HP_0005317	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	biolink:PhenotypicFeature	hp	MSH:D020293|SNOMEDCT_US:427020007|UMLS:C0238051			http://purl.obolibrary.org/obo/HP_0005318	Inflammation of the blood vessels within the brain.
HP:0005320	Lack of facial subcutaneous fat	biolink:PhenotypicFeature	hp	UMLS:C3277426		Lack of facial fat below the skin	http://purl.obolibrary.org/obo/HP_0005320	
HP:0005321	Mandibulofacial dysostosis	biolink:PhenotypicFeature	hp	MSH:D008342|SNOMEDCT_US:82203000|UMLS:C0242387		Treacher collins syndrome	http://purl.obolibrary.org/obo/HP_0005321	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	biolink:PhenotypicFeature	hp	UMLS:C4025216|UMLS:C4280489|UMLS:C4280490		Prominent nasal septum|Prominent septum of nose|Low hanging nasal septum|Low hanging septum of nose|Visible nasal septum|Visible septum of nose	http://purl.obolibrary.org/obo/HP_0005322	
HP:0005323	Hemifacial hypertrophy	biolink:PhenotypicFeature	hp	MSH:C563014|MSH:D005621|SNOMEDCT_US:10394003|SNOMEDCT_US:697962004|UMLS:C0016719|UMLS:C1399354	hposlim_core	Enlargement of half of face|Hemifacial enlargement|Hypertrophy of half of face|Increase in size of half of face|Overgrowth of half of face|Facial hemihypertophy|Facial hemihyperplasia|Friedreich's disease	http://purl.obolibrary.org/obo/HP_0005323	Unilateral overgrowth of facial tissues, including muscles, bones and skin.
HP:0005324	Disturbance of facial expression	biolink:PhenotypicFeature	hp	UMLS:C4025215		Disturbance of facial expression	http://purl.obolibrary.org/obo/HP_0005324	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	biolink:PhenotypicFeature	hp	UMLS:C1857455		Unusual hairline with hair growth on temples extending to lateral eyebrow	http://purl.obolibrary.org/obo/HP_0005325	A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.
HP:0005326	Hypoplastic philtrum	biolink:PhenotypicFeature	hp	UMLS:C1856886		Small philtrum	http://purl.obolibrary.org/obo/HP_0005326	Underdevelopment of the philtrum.
HP:0005327	Loss of facial expression	biolink:PhenotypicFeature	hp	UMLS:C1852476		Loss of facial expression	http://purl.obolibrary.org/obo/HP_0005327	
HP:0005328	Progeroid facial appearance	biolink:PhenotypicFeature	hp	UMLS:C1857710		Premature aged appearance|Aged facial appearance|Prematurely aged face|Prematurely aged facial appearance|Wizened face	http://purl.obolibrary.org/obo/HP_0005328	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	biolink:PhenotypicFeature	hp	UMLS:C1855353		Fixed facial expression|Unchanging facial expression	http://purl.obolibrary.org/obo/HP_0005329	
HP:0005332	Recurrent mandibular subluxations	biolink:PhenotypicFeature	hp	UMLS:C1857011			http://purl.obolibrary.org/obo/HP_0005332	Recurrent partial dislocations of the mandible.
HP:0005335	Sleepy facial expression	biolink:PhenotypicFeature	hp	UMLS:C4025214		Sleepy facial expression|Somnolent facial expression	http://purl.obolibrary.org/obo/HP_0005335	
HP:0005336	Forehead hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C1969673		Darkening of the forehead	http://purl.obolibrary.org/obo/HP_0005336	
HP:0005338	Sparse lateral eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1857206	hposlim_core	Limited hair on end of eyebrow|Lateral hypoplasia of eyebrows|Lateral thinning of eyebrows|Laterally sparse eyebrow|Laterally sparse eyebrows|Sparse lateral eyebrows	http://purl.obolibrary.org/obo/HP_0005338	Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
HP:0005339	Abnormality of complement system	biolink:PhenotypicFeature	hp	UMLS:C4025213			http://purl.obolibrary.org/obo/HP_0005339	An abnormality of the complement system.
HP:0005340	Spastic/hyperactive bladder	biolink:PhenotypicFeature	hp	UMLS:C1836904			http://purl.obolibrary.org/obo/HP_0005340	
HP:0005341	Autonomic bladder dysfunction	biolink:PhenotypicFeature	hp	UMLS:C4025212			http://purl.obolibrary.org/obo/HP_0005341	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	biolink:PhenotypicFeature	hp	UMLS:C1855335		Underdeveloped bladder|Hypoplastic bladder	http://purl.obolibrary.org/obo/HP_0005343	Underdevelopment of the urinary bladder.
HP:0005344	Abnormal carotid artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4025211		Abnormality of the carotid arteries	http://purl.obolibrary.org/obo/HP_0005344	Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.
HP:0005345	Abnormal vena cava morphology	biolink:PhenotypicFeature	hp	UMLS:C4025210		Abnormality of the vena cava	http://purl.obolibrary.org/obo/HP_0005345	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	biolink:PhenotypicFeature	hp	UMLS:C4025209		Abnormal facial expression	http://purl.obolibrary.org/obo/HP_0005346	
HP:0005347	Cartilaginous trachea	biolink:PhenotypicFeature	hp	UMLS:C1863363			http://purl.obolibrary.org/obo/HP_0005347	
HP:0005348	Inspiratory stridor	biolink:PhenotypicFeature	hp	SNOMEDCT_US:58596002|UMLS:C0677600			http://purl.obolibrary.org/obo/HP_0005348	Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.
HP:0005349	Hypoplasia of the epiglottis	biolink:PhenotypicFeature	hp	UMLS:C1396772		Hypoplastic epiglottis	http://purl.obolibrary.org/obo/HP_0005349	Hypoplasia of the epiglottis.
HP:0005352	Severe T-cell immunodeficiency	biolink:PhenotypicFeature	hp	UMLS:C4025208		Severe T-cell immunodeficiency	http://purl.obolibrary.org/obo/HP_0005352	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	biolink:PhenotypicFeature	hp	UMLS:C4025207		Susceptibility to herpesvirus	http://purl.obolibrary.org/obo/HP_0005353	Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
HP:0005354	Lack of T cell function	biolink:PhenotypicFeature	hp	UMLS:C1849426		Absent cellular immunity	http://purl.obolibrary.org/obo/HP_0005354	Complete inability of T cells to perform their functions in cell-mediated immunity.
HP:0005356	Decreased serum complement factor I	biolink:PhenotypicFeature	hp	UMLS:C1970257			http://purl.obolibrary.org/obo/HP_0005356	A reduced level of the complement component Factor I in circulation.
HP:0005357	Defective B cell differentiation	biolink:PhenotypicFeature	hp	UMLS:C1859624			http://purl.obolibrary.org/obo/HP_0005357	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	biolink:PhenotypicFeature	hp	MSH:C536288|SNOMEDCT_US:702623002|SNOMEDCT_US:91918005|UMLS:C0685894		Absent thymus|Athymia|Absent thymic shadow|Lack of thymic shadow	http://purl.obolibrary.org/obo/HP_0005359	Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.
HP:0005360	Susceptibility to chickenpox	biolink:PhenotypicFeature	hp	UMLS:C1855205			http://purl.obolibrary.org/obo/HP_0005360	Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.
HP:0005363	Humoral immunodeficiency	biolink:PhenotypicFeature	hp	UMLS:C4025206			http://purl.obolibrary.org/obo/HP_0005363	A general term referring to a defect in immunity resulting from impaired antibody production.
HP:0005364	obsolete Severe viral infections	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005364	
HP:0005365	Severe B lymphocytopenia	biolink:PhenotypicFeature	hp	UMLS:C1863715|UMLS:C4020824		Absent B cells|Absence of B cells	http://purl.obolibrary.org/obo/HP_0005365	A severe form of B lymphocytopenia in which the count of B cells is very low or absent.
HP:0005366	Recurrent streptococcus pneumoniae infections	biolink:PhenotypicFeature	hp	UMLS:C2169794			http://purl.obolibrary.org/obo/HP_0005366	Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.
HP:0005368	Abnormality of humoral immunity	biolink:PhenotypicFeature	hp	UMLS:C3150510		Defective humoral immunity	http://purl.obolibrary.org/obo/HP_0005368	An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.
HP:0005369	Decreased serum complement factor H	biolink:PhenotypicFeature	hp	UMLS:C1969222			http://purl.obolibrary.org/obo/HP_0005369	A reduced level of the complement component Factor H in circulation.
HP:0005372	Abnormality of B cell physiology	biolink:PhenotypicFeature	hp	UMLS:C1849242		Abnormality of B cell physiology|Reduced B cell function	http://purl.obolibrary.org/obo/HP_0005372	An abnormality of the physiological functioning of B cells.
HP:0005374	Cellular immunodeficiency	biolink:PhenotypicFeature	hp	UMLS:C1855204			http://purl.obolibrary.org/obo/HP_0005374	An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.
HP:0005375	obsolete Partial cellular immunodeficiency	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005375	
HP:0005376	Recurrent Haemophilus influenzae infections	biolink:PhenotypicFeature	hp	UMLS:C4025204		Recurrent H. influenzae infections	http://purl.obolibrary.org/obo/HP_0005376	Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.
HP:0005379	obsolete Severe T lymphocytopenia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005379	
HP:0005381	Recurrent meningococcal disease	biolink:PhenotypicFeature	hp	UMLS:C1970263		Increased susceptibility to neisseria meningitidis infections	http://purl.obolibrary.org/obo/HP_0005381	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	biolink:PhenotypicFeature	hp	UMLS:C1846551			http://purl.obolibrary.org/obo/HP_0005384	A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of
HP:0005386	Recurrent protozoan infections	biolink:PhenotypicFeature	hp	UMLS:C4025202			http://purl.obolibrary.org/obo/HP_0005386	Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.
HP:0005387	Combined immunodeficiency	biolink:PhenotypicFeature	hp	UMLS:C0494261			http://purl.obolibrary.org/obo/HP_0005387	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	biolink:PhenotypicFeature	hp	UMLS:C1969220			http://purl.obolibrary.org/obo/HP_0005389	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	biolink:PhenotypicFeature	hp	UMLS:C1832324		Frequent opportunistic infections	http://purl.obolibrary.org/obo/HP_0005390	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	biolink:PhenotypicFeature	hp	UMLS:C1852539			http://purl.obolibrary.org/obo/HP_0005396	Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.
HP:0005397	obsolete Exaggerated cellular immune processes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005397	
HP:0005400	Reduction of neutrophil motility	biolink:PhenotypicFeature	hp	UMLS:C4025201			http://purl.obolibrary.org/obo/HP_0005400	An abnormal reduction of the cell motility of neutrophils.
HP:0005401	Recurrent candida infections	biolink:PhenotypicFeature	hp	UMLS:C1860128		Frequent candida infections	http://purl.obolibrary.org/obo/HP_0005401	An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
HP:0005402	obsolete Primary T-lymphocyte immune abnormalities	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005402	
HP:0005403	T lymphocytopenia	biolink:PhenotypicFeature	hp	MSH:C536783|UMLS:C2931322		Low T cell count|Reduced number of T cells|Decrease in T cell count|Decrease in T cell number|Decreased numbers of circulating T cells	http://purl.obolibrary.org/obo/HP_0005403	An abnormally low count of T cells.
HP:0005404	Increased B cell count	biolink:PhenotypicFeature	hp	UMLS:C1858972		Increase in B cell count|Increase in B cell number|Increased number of B cells	http://purl.obolibrary.org/obo/HP_0005404	An abnormal increase from the normal count of B cells.
HP:0005406	Recurrent bacterial skin infections	biolink:PhenotypicFeature	hp	UMLS:C1835686		Recurrent bacterial skin infections|Recurrent cutaneous pyogenic infections|Recurrent episodes of impetigo|Recurrent episodes of infectious dermatitis|Recurrent pyogenic skin infections	http://purl.obolibrary.org/obo/HP_0005406	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	biolink:PhenotypicFeature	hp	UMLS:C1839304		Abnormality of CD4+ T cells|CD4 T cell lymphopenia|CD4+ T-cell lymphopenia	http://purl.obolibrary.org/obo/HP_0005407	A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
HP:0005409	obsolete Markedly reduced T cell function	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005409	
HP:0005411	Chronic intestinal candidiasis	biolink:PhenotypicFeature	hp	UMLS:C4020823|UMLS:C4025199		Candida overgrowth syndrome	http://purl.obolibrary.org/obo/HP_0005411	Persistent overgrowth of Candida albicans in the gastrointestinal tract.
HP:0005413	Increased alpha-globulin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:124022007|UMLS:C1167806			http://purl.obolibrary.org/obo/HP_0005413	An abnormally increased level of circulationg 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	biolink:PhenotypicFeature	hp	UMLS:C1839305		CD8+ T-cell lymphopenia|Decreased proportion of CD8+ T cells|Decreased proportion of CD8-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0005415	A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
HP:0005416	Decreased serum complement factor B	biolink:PhenotypicFeature	hp	UMLS:C4021636		Decreased serum factor b	http://purl.obolibrary.org/obo/HP_0005416	A reduced level of the complement component factor B in circulation.
HP:0005419	Decreased T cell activation	biolink:PhenotypicFeature	hp	UMLS:C1846550		Decreased T lymphocyte activation|Decreased T-cell activation|Decreased T-lymphocyte activation|Defective T cell activation|Profound depletion of T4+ lymphocytes	http://purl.obolibrary.org/obo/HP_0005419	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	biolink:PhenotypicFeature	hp	UMLS:C4025198			http://purl.obolibrary.org/obo/HP_0005420	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 serum complement C3	biolink:PhenotypicFeature	hp	UMLS:C1837512		Decreased serum C3|Decreased serum complement C3 level	http://purl.obolibrary.org/obo/HP_0005421	A reduced level of the complement component C3 in circulation.
HP:0005422	Absence of CD8-positive T cells	biolink:PhenotypicFeature	hp	UMLS:C4025197		Absence of CD8+ T cells	http://purl.obolibrary.org/obo/HP_0005422	Lack of detectible CD8-positive T cells
HP:0005423	Dysfunctional alternative complement pathway	biolink:PhenotypicFeature	hp	UMLS:C1839458			http://purl.obolibrary.org/obo/HP_0005423	An abnormality of the functioning of any aspect of the alternative complement pathway.
HP:0005424	Absent specific antibody response	biolink:PhenotypicFeature	hp	UMLS:C1863246			http://purl.obolibrary.org/obo/HP_0005424	Absence of specific immunoglobulins directed against a specific antigen or microorganism.
HP:0005425	Recurrent sinopulmonary infections	biolink:PhenotypicFeature	hp	UMLS:C1846546		Recurrent sinus and lung infections|Chronic sinopulmonary infection	http://purl.obolibrary.org/obo/HP_0005425	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	biolink:PhenotypicFeature	hp	MSH:C563458|UMLS:C1833487			http://purl.obolibrary.org/obo/HP_0005428	
HP:0005429	Recurrent systemic pyogenic infections	biolink:PhenotypicFeature	hp	UMLS:C4025196			http://purl.obolibrary.org/obo/HP_0005429	Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.
HP:0005430	Recurrent Neisserial infections	biolink:PhenotypicFeature	hp	UMLS:C3151083		Episodes of neisserial infection|Recurrent neisseria infections	http://purl.obolibrary.org/obo/HP_0005430	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:88714009|UMLS:C0272238|UMLS:C4020822		Newborn gammaglobulin deficiency	http://purl.obolibrary.org/obo/HP_0005432	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	biolink:PhenotypicFeature	hp	UMLS:C1860127		Impaired T cell function|T-cell dysfunction	http://purl.obolibrary.org/obo/HP_0005435	Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
HP:0005437	Recurrent infections in infancy and early childhood	biolink:PhenotypicFeature	hp	UMLS:C1844909			http://purl.obolibrary.org/obo/HP_0005437	Recurrent infections at an early age with improvement in later childhood.
HP:0005439	Maxillozygomatic hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1848908|UMLS:C4280488		Decreased size of zygomaticomaxillary bone complex|Deficiency of zygomaticomaxillary bone complex|Hypoplasia of malar bone complex|Hypoplasia of zygomaticomaxillary complex|Underdevelopment of zygomaticomaxillary bone complex|Decreased projection of zygomaticomaxillary bone complex	http://purl.obolibrary.org/obo/HP_0005439	Hypoplasia of the maxillozygomatic complex.
HP:0005441	Sclerotic cranial sutures	biolink:PhenotypicFeature	hp	UMLS:C4025195			http://purl.obolibrary.org/obo/HP_0005441	An increased density in the cranial sutures following obliteration.
HP:0005442	Widely patent coronal suture	biolink:PhenotypicFeature	hp	UMLS:C1856778			http://purl.obolibrary.org/obo/HP_0005442	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	biolink:PhenotypicFeature	hp	UMLS:C1855889		Widened posterior fossa	http://purl.obolibrary.org/obo/HP_0005445	Abnormal increased size of the posterior cranial fossa.
HP:0005446	Obtuse angle of mandible	biolink:PhenotypicFeature	hp	SNOMEDCT_US:709997007|UMLS:C4038738		High mandibular plane angle|Steep mandibular plane angle	http://purl.obolibrary.org/obo/HP_0005446	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	biolink:PhenotypicFeature	hp	MSH:C566689|UMLS:C1866959			http://purl.obolibrary.org/obo/HP_0005449	
HP:0005450	Calvarial osteosclerosis	biolink:PhenotypicFeature	hp	UMLS:C1855657			http://purl.obolibrary.org/obo/HP_0005450	An increase in bone density affecting the calvaria (roof of the skull).
HP:0005451	Decreased cranial base ossification	biolink:PhenotypicFeature	hp	UMLS:C1835442			http://purl.obolibrary.org/obo/HP_0005451	
HP:0005453	Absent/hypoplastic paranasal sinuses	biolink:PhenotypicFeature	hp	UMLS:C1856639	hposlim_core		http://purl.obolibrary.org/obo/HP_0005453	Aplasia or hypoplasia of the paranasal sinuses.
HP:0005456	Absent ethmoidal sinuses	biolink:PhenotypicFeature	hp	UMLS:C4025194		Agenesis of ethmoid sinuses|Failure of development of ethmoid sinuses|Missing ethmoid sinuses	http://purl.obolibrary.org/obo/HP_0005456	Lack (aplasia) of the ethmoidal sinus.
HP:0005458	Premature closure of fontanelles	biolink:PhenotypicFeature	hp	MSH:D003398|SNOMEDCT_US:1667003|SNOMEDCT_US:57219006|UMLS:C0010278|UMLS:C0277827|UMLS:C4072853		Early closure of the cranial sutures|Premature closure of the cranial sutures|Early closure of the fontanelles|Obliterated fontanelles|Early closure of the bregma sutures|Premature closure of the bregma sutures	http://purl.obolibrary.org/obo/HP_0005458	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	biolink:PhenotypicFeature	hp	UMLS:C1867114			http://purl.obolibrary.org/obo/HP_0005461	
HP:0005462	Calcification of falx cerebri	biolink:PhenotypicFeature	hp	UMLS:C1397139			http://purl.obolibrary.org/obo/HP_0005462	The presence of calcium deposition in the falx cerebri.
HP:0005463	Elongated sella turcica	biolink:PhenotypicFeature	hp	UMLS:C1863311			http://purl.obolibrary.org/obo/HP_0005463	
HP:0005464	Craniofacial osteosclerosis	biolink:PhenotypicFeature	hp	UMLS:C1845805|UMLS:C4025193		Cranial sclerosis	http://purl.obolibrary.org/obo/HP_0005464	Abnormally increased density of craniofacial bone tissue.
HP:0005465	Facial hyperostosis	biolink:PhenotypicFeature	hp	UMLS:C1857501|UMLS:C4280485|UMLS:C4280486|UMLS:C4280487	hposlim_core	Enlargement of facial bones|Enlargement of facial skeleton|Enlargment of the facial bones|Excessive growth of facial bones|Excessive growth of facial skeleton|Increase in size of the facial bones|Overgrowth of facial bones|Overgrowth of facial skeleton|Overgrowth of the facial bones|Hypertrophy of facial bones|Hypertrophy of facial skeleton|Hyperostosis of facial bones|Hyperostosis of facial skeleton|Hypertrophy of the facial bones|Increased ossification of facial bones|Increased ossification of facial skeleton	http://purl.obolibrary.org/obo/HP_0005465	Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.
HP:0005466	Hypoplasia of the frontal bone	biolink:PhenotypicFeature	hp	UMLS:C1845147|UMLS:C4280483|UMLS:C4280484		Decreased size of bone of forehead|Small bone of forehead|Underdevelopment of bone of forehead|Thin bone of forehead|Hypoplastic frontal bones|Hypotrophic frontal bone|Hypotrophic frontal bones	http://purl.obolibrary.org/obo/HP_0005466	Underdevelopment of the frontal bone.
HP:0005469	Flat occiput	biolink:PhenotypicFeature	hp	UMLS:C1837402|UMLS:C4280482	hposlim_core	Flat back of skull|Flat back of the head|Flat back of the skull|Flat posterior head|Flat posterior cranium|Posterior flattening of the skull	http://purl.obolibrary.org/obo/HP_0005469	Reduced convexity of the occiput (posterior part of skull).
HP:0005472	Orbital craniosynostosis	biolink:PhenotypicFeature	hp	UMLS:C4025192			http://purl.obolibrary.org/obo/HP_0005472	
HP:0005473	Fusion of middle ear ossicles	biolink:PhenotypicFeature	hp	UMLS:C1862068			http://purl.obolibrary.org/obo/HP_0005473	Bony fusion of malleus, incus, and stapes.
HP:0005474	Decreased calvarial ossification	biolink:PhenotypicFeature	hp	UMLS:C1833762		Soft skullcap|Poorly ossified calvaria|Poorly ossified calvarium|Soft calvaria|Undermineralized calvarium|Skull soft on palpation	http://purl.obolibrary.org/obo/HP_0005474	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	biolink:PhenotypicFeature	hp	UMLS:C1856779			http://purl.obolibrary.org/obo/HP_0005476	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	biolink:PhenotypicFeature	hp	UMLS:C1835470			http://purl.obolibrary.org/obo/HP_0005477	Progressively increasing bone density of the skull base without significant changes in bony contour.
HP:0005478	Prominent frontal sinuses	biolink:PhenotypicFeature	hp	UMLS:C1969404|UMLS:C4280265|UMLS:C4280479|UMLS:C4280480|UMLS:C4280481		Increased size of frontal sinus|Increased volume of frontal sinus|Large frontal sinus|Hyperplasia of frontal sinus|Hypertrophy of frontal sinus	http://purl.obolibrary.org/obo/HP_0005478	
HP:0005479	Decreased circulating IgE	biolink:PhenotypicFeature	hp	UMLS:C0860904		Decreased IgE|IgE deficiency	http://purl.obolibrary.org/obo/HP_0005479	An abnormally decreased level of immunoglobulin E (IgE) in blood.
HP:0005482	Abnormality of the alternative complement pathway	biolink:PhenotypicFeature	hp	UMLS:C4025191			http://purl.obolibrary.org/obo/HP_0005482	A deviation in any aspect of the alternative complement pathway.
HP:0005483	Abnormal epiglottis morphology	biolink:PhenotypicFeature	hp	UMLS:C4025190		Abnormality of the epiglottis	http://purl.obolibrary.org/obo/HP_0005483	An abnormality of the epiglottis.
HP:0005484	Postnatal microcephaly	biolink:PhenotypicFeature	hp	UMLS:C1847514		Development of small head that was not present at birth|Acquired microcephaly|Deceleration of head growth|Microcephaly, acquired|Microcephaly, postnatal|Postnatal deceleration of head circumference|Secondary microcephaly	http://purl.obolibrary.org/obo/HP_0005484	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276710001|UMLS:C0456133|UMLS:C4072854|UMLS:C4072855	hposlim_core	Little cranial sutures|Small cranial sutures|Small soft spot|Little fontanelle|Microfontanelle|Small bregma sutures	http://purl.obolibrary.org/obo/HP_0005486	A fontanelle that is small for age.
HP:0005487	Prominent metopic ridge	biolink:PhenotypicFeature	hp	UMLS:C1857949	hposlim_core	Prominent frontal ridge|Prominent metopic suture|Ridging of metopic suture|Prominent frontal suture|Ridging of frontal suture	http://purl.obolibrary.org/obo/HP_0005487	Vertical bony ridge positioned in the midline of the forehead.
HP:0005490	Postnatal macrocephaly	biolink:PhenotypicFeature	hp	UMLS:C1854417		Macrocephaly, postnatal	http://purl.obolibrary.org/obo/HP_0005490	The postnatal development of an abnormally large skull (macrocephaly).
HP:0005494	Premature posterior fontanelle closure	biolink:PhenotypicFeature	hp	UMLS:C1839126			http://purl.obolibrary.org/obo/HP_0005494	
HP:0005495	Metopic suture patent to nasal root	biolink:PhenotypicFeature	hp	UMLS:C4025189			http://purl.obolibrary.org/obo/HP_0005495	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	biolink:PhenotypicFeature	hp	UMLS:C1855690			http://purl.obolibrary.org/obo/HP_0005498	
HP:0005502	Increased red cell osmotic fragility	biolink:PhenotypicFeature	hp	UMLS:C1849478		Increased erythrocyte osmotic fragility|Increased red cell fragility	http://purl.obolibrary.org/obo/HP_0005502	
HP:0005505	Refractory anemia	biolink:PhenotypicFeature	hp	MSH:D000753|SNOMEDCT_US:128845005|UMLS:C0002893		Refractory anaemia	http://purl.obolibrary.org/obo/HP_0005505	
HP:0005506	Chronic myelogenous leukemia	biolink:PhenotypicFeature	hp	DOID:8552|MSH:D015464|SNOMEDCT_US:63364005|SNOMEDCT_US:92818009|UMLS:C0023473		Chronic myelogenous leukaemia|Chronic myelocytic leukemia|Chronic myeloid leukemia	http://purl.obolibrary.org/obo/HP_0005506	A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.
HP:0005507	Hemoglobin Barts	biolink:PhenotypicFeature	hp	UMLS:C3539063		Hb Barts|Haemoglobin Barts	http://purl.obolibrary.org/obo/HP_0005507	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	biolink:PhenotypicFeature	hp	MSH:D008258|SNOMEDCT_US:190817009|SNOMEDCT_US:190818004|SNOMEDCT_US:35562000|UMLS:C0024419		Waldenstrom macroglobulinemia	http://purl.obolibrary.org/obo/HP_0005508	Presence of a monoclonal immunoglobulin M protein in the serum.
HP:0005510	Transient erythroblastopenia	biolink:PhenotypicFeature	hp	UMLS:C4082199		Transient decrease in blood erythrocyte number	http://purl.obolibrary.org/obo/HP_0005510	A transient reduction in the number of erythroblasts in the circulation.
HP:0005511	Heinz body anemia	biolink:PhenotypicFeature	hp	MSH:C563030|UMLS:C0700299		Heinz body anaemia	http://purl.obolibrary.org/obo/HP_0005511	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	biolink:PhenotypicFeature	hp	UMLS:C4025188			http://purl.obolibrary.org/obo/HP_0005512	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	biolink:PhenotypicFeature	hp	UMLS:C4025187			http://purl.obolibrary.org/obo/HP_0005513	Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.
HP:0005517	T-cell lymphoma/leukemia	biolink:PhenotypicFeature	hp	UMLS:C4025186			http://purl.obolibrary.org/obo/HP_0005517	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	biolink:PhenotypicFeature	hp	UMLS:C0855791		Increased MCV|Erythrocyte macrocytosis	http://purl.obolibrary.org/obo/HP_0005518	Larger than normal size of erythrocytes.
HP:0005520	Chronic disseminated intravascular coagulation	biolink:PhenotypicFeature	hp	UMLS:C1862184		Chronic consumption coagulopathy|Compensated disseminated intravascular coagulation	http://purl.obolibrary.org/obo/HP_0005520	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	biolink:PhenotypicFeature	hp	MSH:D004211|SNOMEDCT_US:67406007|UMLS:C0012739			http://purl.obolibrary.org/obo/HP_0005521	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:191260004|SNOMEDCT_US:25443007|UMLS:C0272027		Pyridoxine-responsive sideroblastic anaemia	http://purl.obolibrary.org/obo/HP_0005522	A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.
HP:0005523	Lymphoproliferative disorder	biolink:PhenotypicFeature	hp	MSH:D008232|SNOMEDCT_US:277466009|SNOMEDCT_US:414629003|SNOMEDCT_US:77121009|SNOMEDCT_US:84631004|UMLS:C0024314		Lymphoproliferative disorders	http://purl.obolibrary.org/obo/HP_0005523	
HP:0005524	Macrocytic hemolytic disease	biolink:PhenotypicFeature	hp	UMLS:C4025185			http://purl.obolibrary.org/obo/HP_0005524	
HP:0005525	Spontaneous hemolytic crises	biolink:PhenotypicFeature	hp	UMLS:C4025184			http://purl.obolibrary.org/obo/HP_0005525	
HP:0005526	Lymphoid leukemia	biolink:PhenotypicFeature	hp	MSH:D007945|SNOMEDCT_US:188725004|SNOMEDCT_US:32280000|UMLS:C0023448		Lymphoid leukaemia	http://purl.obolibrary.org/obo/HP_0005526	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	biolink:PhenotypicFeature	hp	MSH:C537060|SNOMEDCT_US:27312002|UMLS:C0272340		Fitzgerald factor deficiency|Kininogen deficiency|Williams factor deficiency|Williams-Fitzgerald-Flaujeac factor deficiency	http://purl.obolibrary.org/obo/HP_0005527	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	biolink:PhenotypicFeature	hp	UMLS:C1855710		Bone marrow failure|Bone marrow hypoplasia|Hypoplastic bone marrow	http://purl.obolibrary.org/obo/HP_0005528	A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
HP:0005531	Biphenotypic acute leukemia	biolink:PhenotypicFeature	hp	MSH:D015456|SNOMEDCT_US:128818009|SNOMEDCT_US:278453007|UMLS:C0023464		Acute biphenotypic leukaemia|Biphenotypic acute leukaemia|Myeloid/lymphoid leukemia	http://purl.obolibrary.org/obo/HP_0005531	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	biolink:PhenotypicFeature	hp	UMLS:C4025183		Macrocytic dyserythropoietic anaemia	http://purl.obolibrary.org/obo/HP_0005532	
HP:0005534	Transient myeloproliferative syndrome	biolink:PhenotypicFeature	hp	MSH:C563551|SNOMEDCT_US:450934005|UMLS:C1834582		TMD|Transient leukemia of Down syndrome|Transient myeloproliferative disorder	http://purl.obolibrary.org/obo/HP_0005534	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	biolink:PhenotypicFeature	hp	UMLS:C4025182			http://purl.obolibrary.org/obo/HP_0005535	A form of hemolytic anemia that can be triggered by exertion.
HP:0005537	Decreased mean platelet volume	biolink:PhenotypicFeature	hp	UMLS:C1096368|UMLS:C1833182		Small platelet size|Small platelets|Small platelets size	http://purl.obolibrary.org/obo/HP_0005537	Average platelet volume below the lower limit of the normal reference interval.
HP:0005539	T cell chronic lymphocytic lymphoma/leukemia	biolink:PhenotypicFeature	hp	UMLS:C4025181			http://purl.obolibrary.org/obo/HP_0005539	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	biolink:PhenotypicFeature	hp	UMLS:C4021635		RBC keratocytosis|Distorted red blood cells resembling keratocytes	http://purl.obolibrary.org/obo/HP_0005540	A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.
HP:0005541	Congenital agranulocytosis	biolink:PhenotypicFeature	hp	MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118			http://purl.obolibrary.org/obo/HP_0005541	Congenital onset of a marked decrease in the number of granulocytes.
HP:0005542	Prolonged whole-blood clotting time	biolink:PhenotypicFeature	hp	UMLS:C0151563		Prolonged clotting time	http://purl.obolibrary.org/obo/HP_0005542	An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.
HP:0005543	Reduced protein C activity	biolink:PhenotypicFeature	hp	MSH:D020151|SNOMEDCT_US:76407009|UMLS:C0398625		Protein C deficiency	http://purl.obolibrary.org/obo/HP_0005543	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	biolink:PhenotypicFeature	hp	UMLS:C1858628			http://purl.obolibrary.org/obo/HP_0005546	
HP:0005547	Myeloproliferative disorder	biolink:PhenotypicFeature	hp	MSH:D009196|SNOMEDCT_US:414794006|SNOMEDCT_US:425333006|UMLS:C0027022			http://purl.obolibrary.org/obo/HP_0005547	Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
HP:0005548	Megakaryocytopenia	biolink:PhenotypicFeature	hp	UMLS:C1858312			http://purl.obolibrary.org/obo/HP_0005548	A reduced count of megakaryocytes.
HP:0005549	obsolete Congenital neutropenia	biolink:PhenotypicFeature	hp	MSH:C537592|SNOMEDCT_US:89655007|UMLS:C1853118		Low blood neutrophil level since birth	http://purl.obolibrary.org/obo/HP_0005549	A form of neutropenia with congenital onset.
HP:0005550	Chronic lymphatic leukemia	biolink:PhenotypicFeature	hp	MSH:D015451|SNOMEDCT_US:277473004|SNOMEDCT_US:51092000|SNOMEDCT_US:92814006|UMLS:C0023434		Chronic lymphatic leukaemia|Chronic lymphocytic leukemia	http://purl.obolibrary.org/obo/HP_0005550	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	biolink:PhenotypicFeature	hp	UMLS:C4025180			http://purl.obolibrary.org/obo/HP_0005556	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	Abnormality of the zygomatic arch	biolink:PhenotypicFeature	hp	UMLS:C4025179		Abnormality of the malar arch|Anomaly of the malar arch|Anomaly of the zygomatic arch|Deformity of the malar arch|Deformity of the zygomatic arch|Malformation of the malar arch|Malformation of the zygomatic arch	http://purl.obolibrary.org/obo/HP_0005557	An abnormality of the zygomatic arch, also known as the cheek bone.
HP:0005558	Chronic leukemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128933000|SNOMEDCT_US:92812005|UMLS:C1279296|UMLS:C4280478		Chronic blood cancer|Chronic leukaemia	http://purl.obolibrary.org/obo/HP_0005558	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	biolink:PhenotypicFeature	hp	UMLS:C4025178			http://purl.obolibrary.org/obo/HP_0005559	
HP:0005560	Imbalanced hemoglobin synthesis	biolink:PhenotypicFeature	hp	UMLS:C4025177		Imbalanced Hb synthesis|Imbalanced haemoglobin synthesis	http://purl.obolibrary.org/obo/HP_0005560	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	biolink:PhenotypicFeature	hp	MSH:D001855|SNOMEDCT_US:127035006|UMLS:C0005956|UMLS:C4021634		Bone marrow disease|Anomaly of the bone marrow cells	http://purl.obolibrary.org/obo/HP_0005561	An anomaly of the form or number of cells in the bone marrow.
HP:0005562	Multiple renal cysts	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253883006|UMLS:C0431718		Multiple kidney cysts	http://purl.obolibrary.org/obo/HP_0005562	The presence of many cysts in the kidney.
HP:0005563	Decreased numbers of nephrons	biolink:PhenotypicFeature	hp	UMLS:C1841994|UMLS:C2673888		Oligonephronia|Decreased numbers of glomeruli	http://purl.obolibrary.org/obo/HP_0005563	A reduction in the count of nephrons per kidney.
HP:0005564	Absence of renal corticomedullary differentiation	biolink:PhenotypicFeature	hp	UMLS:C1849765		Absent renal corticomedullary differentiation|Loss of corticomedullary differentiation	http://purl.obolibrary.org/obo/HP_0005564	A lack of differentiation between renal cortex and medulla on diagnostic imaging.
HP:0005565	Reduced renal corticomedullary differentiation	biolink:PhenotypicFeature	hp	UMLS:C3807131		Loss of definition of corticomedullary differentiation	http://purl.obolibrary.org/obo/HP_0005565	Reduced differentiation between renal cortex and medulla on diagnostic imaging.
HP:0005567	Renal magnesium wasting	biolink:PhenotypicFeature	hp	MSH:C537152|UMLS:C1835171			http://purl.obolibrary.org/obo/HP_0005567	High urine magnesium in the presence of hypomagnesemia.
HP:0005571	Increased renal tubular phosphate reabsorption	biolink:PhenotypicFeature	hp	UMLS:C1968910		Increased percent tubular reabsorption of phosphorus	http://purl.obolibrary.org/obo/HP_0005571	
HP:0005572	Decreased renal tubular phosphate excretion	biolink:PhenotypicFeature	hp	UMLS:C1968899			http://purl.obolibrary.org/obo/HP_0005572	
HP:0005574	Non-acidotic proximal tubulopathy	biolink:PhenotypicFeature	hp	UMLS:C4025176			http://purl.obolibrary.org/obo/HP_0005574	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	biolink:PhenotypicFeature	hp	MSH:D006463|SNOMEDCT_US:111407006|UMLS:C0019061		Hemolytic uremic syndrome	http://purl.obolibrary.org/obo/HP_0005575	
HP:0005576	Tubulointerstitial fibrosis	biolink:PhenotypicFeature	hp	UMLS:C1969372		Tubulointerstitial renal fibrosis|Tubulointerstitial scarring	http://purl.obolibrary.org/obo/HP_0005576	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 reabsorption of chloride	biolink:PhenotypicFeature	hp	UMLS:C1846349		Impaired reabsorption of Cl|Impaired reabsorption of Cl-	http://purl.obolibrary.org/obo/HP_0005579	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	biolink:PhenotypicFeature	hp	UMLS:C1839269			http://purl.obolibrary.org/obo/HP_0005580	A duplication of the renal pelvis.
HP:0005583	Tubular basement membrane disintegration	biolink:PhenotypicFeature	hp	UMLS:C1968618		Disintegration of the tubular basement membrane	http://purl.obolibrary.org/obo/HP_0005583	DIsruption and breaking up of the basement membrane of the tubules of the kidney.
HP:0005584	Renal cell carcinoma	biolink:PhenotypicFeature	hp	MSH:D002292|NCIT:C2916|SNOMEDCT_US:41607009|SNOMEDCT_US:702391001|UMLS:C0007134		Cancer starting in small tubes in kidneys|Hypernephroma|Renal carcinoma	http://purl.obolibrary.org/obo/HP_0005584	A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
HP:0005585	Spotty hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C3806179		Spotty increased pigmentation|Patchy hyperpigmentation	http://purl.obolibrary.org/obo/HP_0005585	
HP:0005586	Hyperpigmentation in sun-exposed areas	biolink:PhenotypicFeature	hp	UMLS:C3805877		Increased pigmentation in sun-exposed areas|Hyperpigmentation of exposed areas	http://purl.obolibrary.org/obo/HP_0005586	
HP:0005587	Profuse pigmented skin lesions	biolink:PhenotypicFeature	hp	UMLS:C1834424			http://purl.obolibrary.org/obo/HP_0005587	
HP:0005588	Patchy palmoplantar keratoderma	biolink:PhenotypicFeature	hp	UMLS:C4021633		Palmoplantar keratoderma, patchy	http://purl.obolibrary.org/obo/HP_0005588	A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.
HP:0005590	Spotty hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C3806178		Patchy hypopigmentation|Spotty decreased pigmentation|Patchy depigmentation	http://purl.obolibrary.org/obo/HP_0005590	
HP:0005592	Giant melanosomes in melanocytes	biolink:PhenotypicFeature	hp	UMLS:C3806221		Macromelanosomes	http://purl.obolibrary.org/obo/HP_0005592	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	biolink:PhenotypicFeature	hp	UMLS:C3806616			http://purl.obolibrary.org/obo/HP_0005593	
HP:0005595	Generalized hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C1969913		Generalised hyperkeratosis|Hyperkeratosis, generalized	http://purl.obolibrary.org/obo/HP_0005595	
HP:0005597	Congenital alopecia totalis	biolink:PhenotypicFeature	hp	UMLS:C4025175			http://purl.obolibrary.org/obo/HP_0005597	Loss of all scalp hair with congenital onset.
HP:0005598	Facial telangiectasia in butterfly midface distribution	biolink:PhenotypicFeature	hp	UMLS:C4021632		Butterfly facial telangiectasia	http://purl.obolibrary.org/obo/HP_0005598	Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.
HP:0005599	Hypopigmentation of hair	biolink:PhenotypicFeature	hp	UMLS:C3278401	hposlim_core	Loss of hair color|Hair hypopigmentation	http://purl.obolibrary.org/obo/HP_0005599	
HP:0005600	Congenital giant melanocytic nevus	biolink:PhenotypicFeature	hp	MSH:C536819|SNOMEDCT_US:10291008|SNOMEDCT_US:254815002|UMLS:C1842036		Giant pigmented mole|Giant pigmented hairy nevus|Giant pigmented nevus	http://purl.obolibrary.org/obo/HP_0005600	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	biolink:PhenotypicFeature	hp	UMLS:C3806428			http://purl.obolibrary.org/obo/HP_0005602	
HP:0005603	Numerous congenital melanocytic nevi	biolink:PhenotypicFeature	hp	UMLS:C3806415			http://purl.obolibrary.org/obo/HP_0005603	
HP:0005605	Large cafe-au-lait macules with irregular margins	biolink:PhenotypicFeature	hp	UMLS:C4025174			http://purl.obolibrary.org/obo/HP_0005605	Large hypermelanotic macules with jagged borders.
HP:0005606	Hyperpigmented nevi and streak	biolink:PhenotypicFeature	hp	UMLS:C3805692			http://purl.obolibrary.org/obo/HP_0005606	
HP:0005607	Abnormal tracheobronchial morphology	biolink:PhenotypicFeature	hp	Fyler:4232|UMLS:C4021631		Tracheobronchial anomalies	http://purl.obolibrary.org/obo/HP_0005607	
HP:0005608	Bilobate gallbladder	biolink:PhenotypicFeature	hp	UMLS:C1846422		Bilobed gallbladder|Double gallbladder|Gallbladder duplication	http://purl.obolibrary.org/obo/HP_0005608	The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.
HP:0005609	Gallbladder dysfunction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51047007|UMLS:C0232769		Gallbladder dysfunction	http://purl.obolibrary.org/obo/HP_0005609	
HP:0005612	Arthrogryposis-like hand anomaly	biolink:PhenotypicFeature	hp	UMLS:C4025173			http://purl.obolibrary.org/obo/HP_0005612	
HP:0005613	Aplasia/hypoplasia of the femur	biolink:PhenotypicFeature	hp	UMLS:C1851310		Absent/small thighbone|Absent/underdeveloped thighbone|Hypoplastic to absent femora|Hypoplastic/aplastic femora	http://purl.obolibrary.org/obo/HP_0005613	Absence or underdevelopment of the femur.
HP:0005616	Accelerated skeletal maturation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:123982003|UMLS:C0545053		Advanced bone age|Early bone maturation	http://purl.obolibrary.org/obo/HP_0005616	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	biolink:PhenotypicFeature	hp	UMLS:C4021830			http://purl.obolibrary.org/obo/HP_0005617	
HP:0005619	Thoracolumbar kyphosis	biolink:PhenotypicFeature	hp	UMLS:C1855418		Thoracolumbar gibbus|Thoracolumbar gibbus deformity	http://purl.obolibrary.org/obo/HP_0005619	Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
HP:0005620	Hypermobility of interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C4025172		Increased mobility of hinge joints	http://purl.obolibrary.org/obo/HP_0005620	The ability of the interphalangeal joints to move beyond their normal range of motion.
HP:0005621	Trapezoidal shaped vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C4025171			http://purl.obolibrary.org/obo/HP_0005621	
HP:0005622	Broad long bones	biolink:PhenotypicFeature	hp	UMLS:C4021630		Broad long bones|Wide long bones|Widened long bones	http://purl.obolibrary.org/obo/HP_0005622	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	biolink:PhenotypicFeature	hp	UMLS:C4021629		Absent bone maturation of skullcap|Absent ossification of skull vault	http://purl.obolibrary.org/obo/HP_0005623	Absent ossification of the calvaria (vault of the skull).
HP:0005625	Osteoporosis of vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4025170			http://purl.obolibrary.org/obo/HP_0005625	Osteoporosis affecting predominantly the vertebrae.
HP:0005626	Posterior fusion of lumbosacral vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4025169			http://purl.obolibrary.org/obo/HP_0005626	Bony fusion of the posterior part of the L5 vertebral body with the sacrum.
HP:0005627	Type D brachydactyly	biolink:PhenotypicFeature	hp	MSH:C562420|UMLS:C0220664		Brachydactyly type D	http://purl.obolibrary.org/obo/HP_0005627	This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.
HP:0005632	Absent forearm	biolink:PhenotypicFeature	hp	UMLS:C1408532		Absent forearm|Absent forearms	http://purl.obolibrary.org/obo/HP_0005632	
HP:0005638	Decreased anterioposterior diameter of lumbar vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C4025168			http://purl.obolibrary.org/obo/HP_0005638	
HP:0005639	Hyperextensible hand joints	biolink:PhenotypicFeature	hp	UMLS:C1856877			http://purl.obolibrary.org/obo/HP_0005639	The ability of the joints of the hand to move beyond their normal range of motion.
HP:0005640	Abnormal vertebral segmentation and fusion	biolink:PhenotypicFeature	hp	UMLS:C4025167			http://purl.obolibrary.org/obo/HP_0005640	
HP:0005643	Short 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021628		Short 3rd toe|Short third toe|Brachydactyly of third toes	http://purl.obolibrary.org/obo/HP_0005643	Underdevelopment (hypoplasia) of the third toe.
HP:0005645	Intervertebral disk calcification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:240211000|UMLS:C0410607	hposlim_core	Intervertebral disc calcification|Multiple intervertebral disk calcifications	http://purl.obolibrary.org/obo/HP_0005645	The presence of abnormal calcium deposition of the intervertebral disk.
HP:0005648	Bilateral ulnar hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4025166			http://purl.obolibrary.org/obo/HP_0005648	Underdevelopment of the ulna on both sides.
HP:0005650	Cutaneous syndactyly between fingers 2 and 5	biolink:PhenotypicFeature	hp	UMLS:C4025165			http://purl.obolibrary.org/obo/HP_0005650	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	biolink:PhenotypicFeature	hp	UMLS:C4025164			http://purl.obolibrary.org/obo/HP_0005652	Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
HP:0005653	Moderate generalized osteoporosis	biolink:PhenotypicFeature	hp	UMLS:C4025163		Moderate generalised osteoporosis	http://purl.obolibrary.org/obo/HP_0005653	Moderate osteoporosis.
HP:0005655	Multiple digital exostoses	biolink:PhenotypicFeature	hp	UMLS:C4025162			http://purl.obolibrary.org/obo/HP_0005655	Multiple exostoses originating in the fingers and toes.
HP:0005656	Positional foot deformity	biolink:PhenotypicFeature	hp	UMLS:C4025161			http://purl.obolibrary.org/obo/HP_0005656	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	biolink:PhenotypicFeature	hp	UMLS:C4015465			http://purl.obolibrary.org/obo/HP_0005659	
HP:0005661	Salmonella osteomyelitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6803002|UMLS:C0152491		Salmonella bone infection	http://purl.obolibrary.org/obo/HP_0005661	Osteomyelitis caused by infection with the bacteria, salmonella.
HP:0005665	Massively thickened long bone cortices	biolink:PhenotypicFeature	hp	UMLS:C4025160			http://purl.obolibrary.org/obo/HP_0005665	Extreme thickening of the cortex of long bones.
HP:0005667	Os odontoideum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445242006|UMLS:C2919848			http://purl.obolibrary.org/obo/HP_0005667	Separation of the odontoid process from the body of the axis.
HP:0005671	Bilateral intracranial calcifications	biolink:PhenotypicFeature	hp	UMLS:C4025159			http://purl.obolibrary.org/obo/HP_0005671	Deposition of calcium salts on both sides of the brain.
HP:0005676	Rudimentary postaxial polydactyly of hands	biolink:PhenotypicFeature	hp	UMLS:C4025158			http://purl.obolibrary.org/obo/HP_0005676	
HP:0005678	Anterior atlanto-occipital dislocation	biolink:PhenotypicFeature	hp	UMLS:C4025157			http://purl.obolibrary.org/obo/HP_0005678	
HP:0005679	Dupuytren contracture	biolink:PhenotypicFeature	hp	MSH:D004387|SNOMEDCT_US:203045001|SNOMEDCT_US:203047009|SNOMEDCT_US:274142002|SNOMEDCT_US:410813000|UMLS:C0013312			http://purl.obolibrary.org/obo/HP_0005679	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	biolink:PhenotypicFeature	hp	UMLS:C4025156			http://purl.obolibrary.org/obo/HP_0005680	A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.
HP:0005681	Juvenile rheumatoid arthritis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:410795001|UMLS:C3714757		Juvenile RA|Juvenile idiopathic arthritis|Rheumatoid arthritis, juvenile	http://purl.obolibrary.org/obo/HP_0005681	
HP:0005682	Talocalcaneal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4025155|UMLS:C4255214		Fusion of foot joint|Fusion of the subtalar joint	http://purl.obolibrary.org/obo/HP_0005682	
HP:0005684	Distal arthrogryposis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24269006|UMLS:C0265213			http://purl.obolibrary.org/obo/HP_0005684	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	biolink:PhenotypicFeature	hp	UMLS:C1855845		Uneven increase in bone density|Patchy increase of bone mineral density	http://purl.obolibrary.org/obo/HP_0005686	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	biolink:PhenotypicFeature	hp	UMLS:C4025154		Deformed head of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0005687	
HP:0005688	Dysplastic distal thumb phalanges with a central hole	biolink:PhenotypicFeature	hp	UMLS:C4025153			http://purl.obolibrary.org/obo/HP_0005688	
HP:0005689	Dermatoglyphic ridges abnormal	biolink:PhenotypicFeature	hp	UMLS:C4025152			http://purl.obolibrary.org/obo/HP_0005689	
HP:0005692	Joint hyperflexibility	biolink:PhenotypicFeature	hp	UMLS:C3553764		Joints move beyond expected range of motion	http://purl.obolibrary.org/obo/HP_0005692	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	biolink:PhenotypicFeature	hp	UMLS:C3152021		Partial fusion of innermost row of wrist bones	http://purl.obolibrary.org/obo/HP_0005694	
HP:0005696	Postaxial polydactyly type A	biolink:PhenotypicFeature	hp	MSH:C562429|SNOMEDCT_US:715704001|UMLS:C3887487			http://purl.obolibrary.org/obo/HP_0005696	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	biolink:PhenotypicFeature	hp	UMLS:C4025151			http://purl.obolibrary.org/obo/HP_0005700	
HP:0005701	Multiple enchondromatosis	biolink:PhenotypicFeature	hp	MSH:D004687|SNOMEDCT_US:268274005|UMLS:C0014084			http://purl.obolibrary.org/obo/HP_0005701	
HP:0005707	Bilateral triphalangeal thumbs	biolink:PhenotypicFeature	hp	UMLS:C4021627		Bilateral digitalized thumb	http://purl.obolibrary.org/obo/HP_0005707	A bilateral form of triphalangeal thumb.
HP:0005709	2-3 toe cutaneous syndactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205145001|UMLS:C0432040		Webbed skin of 2nd-3rd toes|Complete cutaneous syndactyly of second and third toes|Cutaneous 2,3 toe syndactyly|Cutaneous syndactyly of second and third toes	http://purl.obolibrary.org/obo/HP_0005709	
HP:0005715	Flattened knee epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025150		Flattened end part of knee bone	http://purl.obolibrary.org/obo/HP_0005715	
HP:0005716	Lethal skeletal dysplasia	biolink:PhenotypicFeature	hp	UMLS:C4021626		Lethal dwarfism identifiable at birth	http://purl.obolibrary.org/obo/HP_0005716	
HP:0005720	Shortening of all metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4025149			http://purl.obolibrary.org/obo/HP_0005720	Abnormal reduction in length of all metacarpal bones.
HP:0005722	Hyperextensible thumb	biolink:PhenotypicFeature	hp	UMLS:C4025148		Double jointed thumb	http://purl.obolibrary.org/obo/HP_0005722	The ability of the thumb joints to move beyond their normal range of motion.
HP:0005723	Shoe-shaped sella turcica	biolink:PhenotypicFeature	hp	UMLS:C4025147			http://purl.obolibrary.org/obo/HP_0005723	
HP:0005725	Nonopposable triphalangeal thumb	biolink:PhenotypicFeature	hp	MSH:C536562|UMLS:C2931238			http://purl.obolibrary.org/obo/HP_0005725	A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.
HP:0005726	Thumbs hypoplastic with bulbous tips	biolink:PhenotypicFeature	hp	UMLS:C4025146		Short thumbs with bulbous tips	http://purl.obolibrary.org/obo/HP_0005726	
HP:0005731	Cortical irregularity	biolink:PhenotypicFeature	hp	UMLS:C4025145			http://purl.obolibrary.org/obo/HP_0005731	An abnormal irregularity of cortical bone.
HP:0005733	Spinal stenosis with reduced interpedicular distance	biolink:PhenotypicFeature	hp	UMLS:C4021625		Spinal stenosis due to short pedicles	http://purl.obolibrary.org/obo/HP_0005733	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	biolink:PhenotypicFeature	hp	UMLS:C1850259|UMLS:C1855277		Short shinbone|Short skankbone|Hypoplasia of the tibia|Hypoplastic tibia|Short tibiae|Shortening of the shankbone|Shortening of the shinbone|Shortening of the tibia	http://purl.obolibrary.org/obo/HP_0005736	Underdevelopment (reduced size) of the tibia.
HP:0005739	Posterior subluxation of radial head	biolink:PhenotypicFeature	hp	UMLS:C3149878			http://purl.obolibrary.org/obo/HP_0005739	Partial dislocation of the head of the radius in the posterior direction.
HP:0005743	Avascular necrosis of the capital femoral epiphysis	biolink:PhenotypicFeature	hp	ICD-10:M91.1|MSH:D007873|SNOMEDCT_US:111255008|SNOMEDCT_US:240241003|UMLS:C0023234		Osteochondrosis of the femoral head|Osteonecrosis of the femoral head|Perthes-like femoral head changes|Coxa plana|Legg-Calve-Perthes syndrome|Legg-Perthes disease|Morbus Legg-Calve-Perthes	http://purl.obolibrary.org/obo/HP_0005743	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:0005744	obsolete Generalized osteoporosis with pathologic fractures	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005744	
HP:0005745	Congenital foot contractures	biolink:PhenotypicFeature	hp	UMLS:C4025144			http://purl.obolibrary.org/obo/HP_0005745	
HP:0005746	Osteosclerosis of the base of the skull	biolink:PhenotypicFeature	hp	UMLS:C4021624		Osteosclerosis of the skull base	http://purl.obolibrary.org/obo/HP_0005746	An increase in bone density affecting the basicranium (base of the skull).
HP:0005747	Easily subluxated first metacarpophalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C4025143			http://purl.obolibrary.org/obo/HP_0005747	
HP:0005750	Contractures of the joints of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C1859523		Contractures, lower limbs	http://purl.obolibrary.org/obo/HP_0005750	
HP:0005752	Flattened moderately deformed vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4025142			http://purl.obolibrary.org/obo/HP_0005752	
HP:0005756	Neonatal epiphyseal stippling	biolink:PhenotypicFeature	hp	UMLS:C4021623		Speckled calcifications in bone end parts in neonates|Epiphyseal stippling in neonates	http://purl.obolibrary.org/obo/HP_0005756	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.
HP:0005758	Basilar impression	biolink:PhenotypicFeature	hp	MSH:D010985|SNOMEDCT_US:86587003|UMLS:C0032209			http://purl.obolibrary.org/obo/HP_0005758	Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
HP:0005759	Small flat posterior fossa	biolink:PhenotypicFeature	hp	UMLS:C4025141		Small and flat posterior fossa of skull|Small and flat posterior skull bones	http://purl.obolibrary.org/obo/HP_0005759	An abnormally small and flat configuration of the posterior cranial fossa.
HP:0005764	Polyarticular arthritis	biolink:PhenotypicFeature	hp	MSH:D001168|SNOMEDCT_US:416956002|SNOMEDCT_US:417373000|UMLS:C0162323			http://purl.obolibrary.org/obo/HP_0005764	
HP:0005765	Sacral meningocele	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95478002|UMLS:C0521556			http://purl.obolibrary.org/obo/HP_0005765	
HP:0005766	Disproportionate shortening of the tibia	biolink:PhenotypicFeature	hp	UMLS:C3806516		Disproportionate shortening of the shankbone|Disproportionate shortening of the shinbone|Marked shortening of tibia	http://purl.obolibrary.org/obo/HP_0005766	
HP:0005767	1-2 toe complete cutaneous syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4025140			http://purl.obolibrary.org/obo/HP_0005767	
HP:0005768	2-4 toe cutaneous syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4021622		Webbed 2nd, 3rd and 4th toes|Webbed second, third and fourth toes|Soft tissue syndactyly of toes 2, 3, and 4	http://purl.obolibrary.org/obo/HP_0005768	A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.
HP:0005769	Fifth finger distal phalanx clinodactyly	biolink:PhenotypicFeature	hp	UMLS:C4025139|UMLS:C4280477		Curvature of outermost bone of little finger|Curvature of outermost bone of pinkie finger|Curvature of outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0005769	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	biolink:PhenotypicFeature	hp	UMLS:C1969181		Absent/small shankbone|Absent/small shinbone|Absent/underdeveloped shankbone|Absent/underdeveloped shinbone|Absent/hypoplastic tibia|Aplastic/hypoplastic tibia	http://purl.obolibrary.org/obo/HP_0005772	Absence or underdevelopment of the tibia.
HP:0005773	Short forearm	biolink:PhenotypicFeature	hp	UMLS:C1855299		Short forearm	http://purl.obolibrary.org/obo/HP_0005773	Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.
HP:0005775	Multiple skeletal anomalies	biolink:PhenotypicFeature	hp	UMLS:C4025138			http://purl.obolibrary.org/obo/HP_0005775	
HP:0005776	Carpal bone malsegmentation	biolink:PhenotypicFeature	hp	UMLS:C4025137			http://purl.obolibrary.org/obo/HP_0005776	
HP:0005780	Absent fourth finger distal interphalangeal crease	biolink:PhenotypicFeature	hp	UMLS:C4021621		No fourth finger distal interphalangeal crease	http://purl.obolibrary.org/obo/HP_0005780	Absence of the distal interphalangeal flexion creases of the fourth finger.
HP:0005781	Contractures of the large joints	biolink:PhenotypicFeature	hp	UMLS:C1859698			http://purl.obolibrary.org/obo/HP_0005781	
HP:0005787	Lumbar platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C4025136			http://purl.obolibrary.org/obo/HP_0005787	A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.
HP:0005788	Abnormal cervical myelogram	biolink:PhenotypicFeature	hp	UMLS:C4025135			http://purl.obolibrary.org/obo/HP_0005788	
HP:0005789	Generalized osteosclerosis	biolink:PhenotypicFeature	hp	UMLS:C1843331|UMLS:C4280476		Increased bone density in skeletal bones|Generalised osteosclerosis|Diffuse, symmetrical osteosclerosis|Osteosclerosis, diffuse symmetrical	http://purl.obolibrary.org/obo/HP_0005789	An abnormal increase of bone mineral density with generalized involvement of the skeleton.
HP:0005790	Short mandibular condyles	biolink:PhenotypicFeature	hp	UMLS:C4025134|UMLS:C4280474|UMLS:C4280475		Bilateral hypoplasia of condylar process of mandible|Bilateral hypoplasia of mandibular condylar head|Bilateral hypoplasia of mandibular condylar neck|Decreased height of condylar process of mandible|Decreased length of condylar process of mandible|Short condylar process of mandible|Short condylar head of mandible|Short condylar neck of mandible	http://purl.obolibrary.org/obo/HP_0005790	
HP:0005791	Cortical thickening of long bone diaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025133			http://purl.obolibrary.org/obo/HP_0005791	Abnormal thickening of the cortex of the diaphyseal region of long bones.
HP:0005792	Short humerus	biolink:PhenotypicFeature	hp	UMLS:C1832117	hposlim_core	Short humerus|Short long bone of upper arm|Short upper arms|Humeral hypoplasia|Humeral shortening|Hypoplastic humerus|Short humeri	http://purl.obolibrary.org/obo/HP_0005792	Underdevelopment of the humerus.
HP:0005793	Shortening of all distal phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4025132		Shortening of all outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0005793	Abnormally short distal phalanx of toe of all toes.
HP:0005794	obsolete Arterial disease of legs	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005794	
HP:0005798	Posterior radial head dislocation	biolink:PhenotypicFeature	hp	MSH:C566728|UMLS:C1867398			http://purl.obolibrary.org/obo/HP_0005798	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	biolink:PhenotypicFeature	hp	UMLS:C4025130			http://purl.obolibrary.org/obo/HP_0005802	
HP:0005807	Absent distal phalanges	biolink:PhenotypicFeature	hp	UMLS:C1861339		Absent outermost digital bones	http://purl.obolibrary.org/obo/HP_0005807	Aplasia (absence) of the distal phalanges.
HP:0005815	Supernumerary ribs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205460009|UMLS:C0345397	hposlim_core	Extra ribs	http://purl.obolibrary.org/obo/HP_0005815	The presence of more than 12 rib pairs.
HP:0005817	Postaxial polysyndactyly of foot	biolink:PhenotypicFeature	hp	UMLS:C4021824			http://purl.obolibrary.org/obo/HP_0005817	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	biolink:PhenotypicFeature	hp	UMLS:C1846950		Short middle bone of finger|Brachymesophalangy|Disproportionately short middle phalanges|Hypoplasia of the middle phalanges of the hand|Hypoplastic middle phalanges|Hypoplastic middle phalanx|Midphalangeal hypoplasia|Short middle phalanges|Shortened middle finger bones	http://purl.obolibrary.org/obo/HP_0005819	Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
HP:0005820	Superior rib anomalies	biolink:PhenotypicFeature	hp	UMLS:C4025129			http://purl.obolibrary.org/obo/HP_0005820	
HP:0005824	Clinodactyly of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021620|UMLS:C4280473		Curvature of 2nd toe|Clinodactyly of second toes	http://purl.obolibrary.org/obo/HP_0005824	Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).
HP:0005825	Mixed sclerosis of humeral metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025128			http://purl.obolibrary.org/obo/HP_0005825	
HP:0005828	Transient pulmonary infiltrates	biolink:PhenotypicFeature	hp	UMLS:C3805920			http://purl.obolibrary.org/obo/HP_0005828	
HP:0005829	Maldevelopment of radioulnar joint	biolink:PhenotypicFeature	hp	UMLS:C3149879			http://purl.obolibrary.org/obo/HP_0005829	
HP:0005830	Flexion contracture of toe	biolink:PhenotypicFeature	hp	UMLS:C1406835		Contractures involving the toes|Contractures of the toes|Toe contractures	http://purl.obolibrary.org/obo/HP_0005830	One or more bent (flexed) toe joints that cannot be straightened actively or passively.
HP:0005831	Type B brachydactyly	biolink:PhenotypicFeature	hp	MSH:C566196|UMLS:C1862112			http://purl.obolibrary.org/obo/HP_0005831	
HP:0005832	Dysharmonic delayed bone age	biolink:PhenotypicFeature	hp	UMLS:C1859444			http://purl.obolibrary.org/obo/HP_0005832	A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.
HP:0005833	obsolete Joint swelling onset late infancy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005833	
HP:0005834	obsolete Thumbs hypo/aplastic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005834	
HP:0005837	obsolete Joint dislocations in young adult	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005837	
HP:0005841	Calcific stippling of infantile cartilaginous skeleton	biolink:PhenotypicFeature	hp	UMLS:C1859135			http://purl.obolibrary.org/obo/HP_0005841	
HP:0005844	Rounded middle phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4025126		Rounded middle bone of finger	http://purl.obolibrary.org/obo/HP_0005844	An abnormally round shape of the middle phalanx of the finger.
HP:0005848	obsolete Bifid thumb distal phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005848	
HP:0005849	Diffuse cerebral calcification	biolink:PhenotypicFeature	hp	UMLS:C4025125			http://purl.obolibrary.org/obo/HP_0005849	Generalized deposition of calcium salts within the brain.
HP:0005850	Congenital talipes calcaneovalgus	biolink:PhenotypicFeature	hp	MSH:D005413|SNOMEDCT_US:205083002|SNOMEDCT_US:31668003|UMLS:C0152237			http://purl.obolibrary.org/obo/HP_0005850	
HP:0005852	Limited elbow extension and supination	biolink:PhenotypicFeature	hp	UMLS:C4025124			http://purl.obolibrary.org/obo/HP_0005852	
HP:0005853	Congenital foot contraction deformities	biolink:PhenotypicFeature	hp	UMLS:C4025123			http://purl.obolibrary.org/obo/HP_0005853	
HP:0005855	Multiple prenatal fractures	biolink:PhenotypicFeature	hp	UMLS:C1853171		Multiple fractures present at birth|Multiple fractures, present at birth|Numerous multiple fractures present at birth|Numerous multiple fractures that are present at birth|Congenital bone fractures	http://purl.obolibrary.org/obo/HP_0005855	The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
HP:0005856	Ulnar radial head dislocation	biolink:PhenotypicFeature	hp	UMLS:C4021619		Ulnar dislocation of radial heads	http://purl.obolibrary.org/obo/HP_0005856	A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.
HP:0005857	Cervical spina bifida	biolink:PhenotypicFeature	hp	SNOMEDCT_US:32232003|UMLS:C0266501			http://purl.obolibrary.org/obo/HP_0005857	
HP:0005863	Type E brachydactyly	biolink:PhenotypicFeature	hp	MSH:C566194|UMLS:C1862102			http://purl.obolibrary.org/obo/HP_0005863	In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.
HP:0005864	Pseudoarthrosis	biolink:PhenotypicFeature	hp	MSH:D011542|SNOMEDCT_US:31511007|SNOMEDCT_US:410818009|UMLS:C0033785		Pseudoarthroses	http://purl.obolibrary.org/obo/HP_0005864	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	biolink:PhenotypicFeature	hp	UMLS:C4025122			http://purl.obolibrary.org/obo/HP_0005866	A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.
HP:0005867	Fused fourth and fifth metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1859768		Fused 4th-5th long bones of hand|Fused 4th-5th metacarpals	http://purl.obolibrary.org/obo/HP_0005867	
HP:0005868	Metaphyseal enchondromatosis	biolink:PhenotypicFeature	hp	UMLS:C4025121			http://purl.obolibrary.org/obo/HP_0005868	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28681006|UMLS:C0265290			http://purl.obolibrary.org/obo/HP_0005871	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	biolink:PhenotypicFeature	hp	UMLS:C1847408		Progressive brachydactyly of middle and distal phalanges|Short middle and distal phalanges of digits ii through v	http://purl.obolibrary.org/obo/HP_0005872	Disproportionately short middle and distal phalanges compared to the hand/foot.
HP:0005873	Polysyndactyly of hallux	biolink:PhenotypicFeature	hp	UMLS:C4021618		Polysyndactyly of big toe|Polysyndactyly of great toe	http://purl.obolibrary.org/obo/HP_0005873	Combined syndactyly and polydactyly of the great toe.
HP:0005875	Increased dermatoglyphic whorls	biolink:PhenotypicFeature	hp	UMLS:C4025120			http://purl.obolibrary.org/obo/HP_0005875	
HP:0005876	Progressive flexion contractures	biolink:PhenotypicFeature	hp	UMLS:C3279322		Joint contractures, progressive	http://purl.obolibrary.org/obo/HP_0005876	Progressively worsening joint contractures.
HP:0005877	Multiple small vertebral fractures	biolink:PhenotypicFeature	hp	UMLS:C4025119			http://purl.obolibrary.org/obo/HP_0005877	
HP:0005878	Enlarged sagittal diameter of the cervical canal	biolink:PhenotypicFeature	hp	UMLS:C4025118			http://purl.obolibrary.org/obo/HP_0005878	
HP:0005879	Congenital finger flexion contractures	biolink:PhenotypicFeature	hp	UMLS:C1393871		Congenital finger contractures	http://purl.obolibrary.org/obo/HP_0005879	Multiple bent (flexed) finger joints that cannot be straightened actively or passively.
HP:0005880	Metacarpophalangeal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4025117		Fused long bone of hand with innermost finger bone	http://purl.obolibrary.org/obo/HP_0005880	Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.
HP:0005881	Spinal instability	biolink:PhenotypicFeature	hp	SNOMEDCT_US:240220009|UMLS:C0410648			http://purl.obolibrary.org/obo/HP_0005881	
HP:0005882	Dermatoglyphic variants	biolink:PhenotypicFeature	hp	UMLS:C4025116			http://purl.obolibrary.org/obo/HP_0005882	
HP:0005885	Absent ossification of cervical vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C4025115			http://purl.obolibrary.org/obo/HP_0005885	A lack of bone mineralization of one or more body of cervical vertebra.
HP:0005886	Aphalangy of the hands	biolink:PhenotypicFeature	hp	UMLS:C4025114			http://purl.obolibrary.org/obo/HP_0005886	Absence of a digit or of one or more phalanges of a finger.
HP:0005890	Hyperostosis cranialis interna	biolink:PhenotypicFeature	hp	MSH:C564168|UMLS:C1840404|UMLS:C4280468|UMLS:C4280469|UMLS:C4280470|UMLS:C4280471|UMLS:C4280472		Enlargement of the inner surface of the skull bones|Overgrowth of the inside of the skull|Thick inner surface of the skull bones|Excessive growth of inner surface of the skull bones|Overgrowth of the inner surface of the skull bones|Hypertrophy of the internal surface of the cranial bones|Increased ossification of the internal surface of the cranial bones|Thick internal surface of the cranial bones|Hyperostosis of the internal surface of the cranial bone|Hyperostosis of the internal surface of the cranial bones	http://purl.obolibrary.org/obo/HP_0005890	Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.
HP:0005891	Progressive forearm bowing	biolink:PhenotypicFeature	hp	UMLS:C3152020		Progressive forearm curvature	http://purl.obolibrary.org/obo/HP_0005891	Progressive bending or abnormal curvature of the forearm skeleton.
HP:0005892	Proximal tibial and fibular fusion	biolink:PhenotypicFeature	hp	UMLS:C4025113		Fusion of innermost shinbone and calf bone	http://purl.obolibrary.org/obo/HP_0005892	
HP:0005894	Double first metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4025112		Double 1st long bones of hand	http://purl.obolibrary.org/obo/HP_0005894	Duplication of the metacarpal I bones.
HP:0005895	Radial deviation of thumb terminal phalanx	biolink:PhenotypicFeature	hp	UMLS:C4025111			http://purl.obolibrary.org/obo/HP_0005895	
HP:0005897	Severe generalized osteoporosis	biolink:PhenotypicFeature	hp	UMLS:C1859443		Severe generalised osteoporosis|Severe, generalized osteoporosis	http://purl.obolibrary.org/obo/HP_0005897	Severe degree of osteoporosis.
HP:0005899	Metaphyseal dysostosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28681006|UMLS:C0265290			http://purl.obolibrary.org/obo/HP_0005899	Abnormal mineralization of the metaphyseal area of bones.
HP:0005900	Fifth metacarpal with ulnar notch	biolink:PhenotypicFeature	hp	UMLS:C3276324		Fifth metacarpal notched on ulnar side	http://purl.obolibrary.org/obo/HP_0005900	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:0005901	obsolete Chronic recurrent multifocal osteomyelitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005901	
HP:0005905	Abnormal cervical curvature	biolink:PhenotypicFeature	hp	UMLS:C3151523		Abnormal neck curve	http://purl.obolibrary.org/obo/HP_0005905	The presence of an abnormal curvature of the cervical vertebral column.
HP:0005906	Delayed pneumatization of the mastoid process	biolink:PhenotypicFeature	hp	UMLS:C4021617	hposlim_core	Mastoid processes poorly pneumatized	http://purl.obolibrary.org/obo/HP_0005906	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	biolink:PhenotypicFeature	hp	UMLS:C4021616		Rhomboid or triangular shaped fifth finger middle phalanx	http://purl.obolibrary.org/obo/HP_0005910	Rhomboid or triangular shaped 5th (little) finger middle phalanx.
HP:0005912	Biliary atresia	biolink:PhenotypicFeature	hp	MSH:D001656|SNOMEDCT_US:77480004|SNOMEDCT_US:82821008|UMLS:C0005411		Biliary duct atresia	http://purl.obolibrary.org/obo/HP_0005912	Atresia of the biliary tree.
HP:0005913	Abnormality of metacarpal epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025110		Abnormality of end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0005913	
HP:0005914	Aplasia/Hypoplasia involving the metacarpal bones	biolink:PhenotypicFeature	hp	UMLS:C1836192		Absent/small long bones of hand|Absent/underdeveloped long bones of hand|Absent or hypoplastic metacarpals|Aplastic/hypoplastic metacarpals|Hypoplastic metacarpals|Hypoplastic/absent metacarpal bones|Hypoplastic/absent metacarpals|Metacarpal aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0005914	Aplasia or Hypoplasia affecting the metacarpal bones.
HP:0005916	Abnormal metacarpal morphology	biolink:PhenotypicFeature	hp	UMLS:C4021615		Abnormal shape of long bones of hand|Abnormal shape of metacarpal bones	http://purl.obolibrary.org/obo/HP_0005916	Irregularly shaped metacarpal bones of varying degree.
HP:0005917	Supernumerary metacarpal bones	biolink:PhenotypicFeature	hp	SNOMEDCT_US:91846008|UMLS:C0545617		Extra long bones of hand	http://purl.obolibrary.org/obo/HP_0005917	The presence of more than the normal number of metacarpal bones.
HP:0005918	Abnormal finger phalanx morphology	biolink:PhenotypicFeature	hp	UMLS:C4021614		Abnormality of the finger bones|Abnormal form of phalanges of the hand|Abnormality of phalanx of finger|Abnormality of the phalanges|Abnormality of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005918	Abnormalities affecting the phalanx of finger.
HP:0005920	Abnormal epiphysis morphology of the phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021613			http://purl.obolibrary.org/obo/HP_0005920	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:0005921	obsolete Abnormal ossification of hand bones	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0005921	
HP:0005922	Abnormal hand morphology	biolink:PhenotypicFeature	hp	UMLS:C4025109		Abnormal shape of hand	http://purl.obolibrary.org/obo/HP_0005922	Any structural anomaly of the hand.
HP:0005923	Abnormalities of the metaphyses of the hand	biolink:PhenotypicFeature	hp	UMLS:C4025108		Abnormality of the wide portion of the hand bone	http://purl.obolibrary.org/obo/HP_0005923	
HP:0005924	Abnormality of the epiphyses of the hand	biolink:PhenotypicFeature	hp	UMLS:C4025107		Abnormality of the end part of the hand bone|Abnormality of the end part of the hand bones|Abnormality of the epiphyses of the fingers|Abnormality of the epiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0005924	Any abnormality of the epiphyses of the phalanges or metacarpal bones.
HP:0005925	Abnormalities of the diaphyses of the hand	biolink:PhenotypicFeature	hp	UMLS:C4025106		Abnormalities of shaft of long bone of the hand	http://purl.obolibrary.org/obo/HP_0005925	
HP:0005926	Abnormality of hand cortical bone	biolink:PhenotypicFeature	hp	UMLS:C4025105		Abnormality of the cortex of hand bones	http://purl.obolibrary.org/obo/HP_0005926	An anomaly of the outer shell (cortex) of a hand bone.
HP:0005927	Aplasia/hypoplasia involving bones of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021612		Absent/small hand bones|Absent/underdeveloped hand bones|Hypoplasia/absence of hand bones	http://purl.obolibrary.org/obo/HP_0005927	Absence (due to failure to form) or underdevelopment of the bones of the hand.
HP:0005928	Synostosis involving the fibula	biolink:PhenotypicFeature	hp	UMLS:C4025104		Bone fusion involving the calf bones	http://purl.obolibrary.org/obo/HP_0005928	
HP:0005929	Synostosis involving the tibia	biolink:PhenotypicFeature	hp	UMLS:C4025103		Bone fusion involving the shinbone	http://purl.obolibrary.org/obo/HP_0005929	
HP:0005930	Abnormality of epiphysis morphology	biolink:PhenotypicFeature	hp	UMLS:C4021611		Abnormal shape of end part of bone|Abnormality of the epiphyses|Anomaly of the epiphyses|Epiphyseal abnormality	http://purl.obolibrary.org/obo/HP_0005930	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	biolink:PhenotypicFeature	hp	UMLS:C4025102			http://purl.obolibrary.org/obo/HP_0005932	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	biolink:PhenotypicFeature	hp	UMLS:C4025101			http://purl.obolibrary.org/obo/HP_0005934	
HP:0005938	Abnormal respiratory motile cilium morphology	biolink:PhenotypicFeature	hp	UMLS:C4025100			http://purl.obolibrary.org/obo/HP_0005938	Abnormal arrangement of the structures of the motile cilium.
HP:0005939	Multiple bilateral pneumothoraces	biolink:PhenotypicFeature	hp	UMLS:C4025099			http://purl.obolibrary.org/obo/HP_0005939	
HP:0005941	Intermittent hyperpnea at rest	biolink:PhenotypicFeature	hp	UMLS:C4025098			http://purl.obolibrary.org/obo/HP_0005941	
HP:0005942	Desquamative interstitial pneumonitis	biolink:PhenotypicFeature	hp	MSH:C562470|SNOMEDCT_US:8549006|UMLS:C0238378		Filling of the alveoli with alveolar macrophages|Filling of the alveoli with desquamated epithelial cells|Intra-alveolar accumulation of macrophages	http://purl.obolibrary.org/obo/HP_0005942	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87317003|UMLS:C0162297		Breathing cessation	http://purl.obolibrary.org/obo/HP_0005943	
HP:0005944	Bilateral lung agenesis	biolink:PhenotypicFeature	hp	Fyler:4206|UMLS:C4021610		Absent lungs|Bilateral pulmonary agenesis	http://purl.obolibrary.org/obo/HP_0005944	Bilateral lack of development of the lungs.
HP:0005945	Laryngeal obstruction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:61169001|UMLS:C0264306			http://purl.obolibrary.org/obo/HP_0005945	Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.
HP:0005946	Ventilator dependence with inability to wean	biolink:PhenotypicFeature	hp	UMLS:C4025097			http://purl.obolibrary.org/obo/HP_0005946	
HP:0005947	Decreased sensitivity to hypoxemia	biolink:PhenotypicFeature	hp	UMLS:C3806286		Decreased sensitivity to hypoxemia|Decreased sensitivity to hypoxaemia	http://purl.obolibrary.org/obo/HP_0005947	Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.
HP:0005948	Multiple pulmonary cysts	biolink:PhenotypicFeature	hp	MSH:C563237|UMLS:C1384901		Cystic lung disease|Multiple lung cysts	http://purl.obolibrary.org/obo/HP_0005948	The presence of multiple lung cysts.
HP:0005949	Apneic episodes in infancy	biolink:PhenotypicFeature	hp	UMLS:C3807980			http://purl.obolibrary.org/obo/HP_0005949	Recurrent episodes of apnea occurring during infancy.
HP:0005950	Laryngeal web	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297159008|UMLS:C0281890		Laryngeal webs|Partial laryngeal atresia	http://purl.obolibrary.org/obo/HP_0005950	A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
HP:0005951	Progressive inspiratory stridor	biolink:PhenotypicFeature	hp	UMLS:C4025096			http://purl.obolibrary.org/obo/HP_0005951	
HP:0005952	Decreased pulmonary function	biolink:PhenotypicFeature	hp	MSH:D012131|SNOMEDCT_US:80954004|UMLS:C0235063		Decreased lung function|Impaired lung function|Impaired pulmonary function	http://purl.obolibrary.org/obo/HP_0005952	
HP:0005954	Pulmonary capillary hemangiomatosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:233949008|UMLS:C0340548		Pulmonary hemangiomas	http://purl.obolibrary.org/obo/HP_0005954	
HP:0005956	Anteroposteriorly shortened larynx	biolink:PhenotypicFeature	hp	UMLS:C3805994			http://purl.obolibrary.org/obo/HP_0005956	Abnormal shortening of the larynx in the anteroposterior (front to back) axis.
HP:0005957	Breathing dysregulation	biolink:PhenotypicFeature	hp	UMLS:C3808046			http://purl.obolibrary.org/obo/HP_0005957	
HP:0005959	Impaired gluconeogenesis	biolink:PhenotypicFeature	hp	UMLS:C3279336		Gluconeogenesis impaired	http://purl.obolibrary.org/obo/HP_0005959	An impairment of gluconeogenesis.
HP:0005961	Hypoargininemia	biolink:PhenotypicFeature	hp	UMLS:C1859735|UMLS:C4025095		Low blood arginine levels|Arginine deficiency	http://purl.obolibrary.org/obo/HP_0005961	A decreased concentration of arginine in the blood.
HP:0005964	Intermittent hypothermia	biolink:PhenotypicFeature	hp	UMLS:C1837639		Intermittent abnormally low body temperature|Intermittent hypothermia	http://purl.obolibrary.org/obo/HP_0005964	Episodes of reduced body termperature.
HP:0005967	Mixed respiratory and metabolic acidosis	biolink:PhenotypicFeature	hp	UMLS:C1840372			http://purl.obolibrary.org/obo/HP_0005967	
HP:0005968	Temperature instability	biolink:PhenotypicFeature	hp	UMLS:C1820737|UMLS:C3279038		Temperature instability|Body temperature instability	http://purl.obolibrary.org/obo/HP_0005968	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	biolink:PhenotypicFeature	hp	MSH:D000142|SNOMEDCT_US:12326000|UMLS:C0001127			http://purl.obolibrary.org/obo/HP_0005972	Acidosis because of respiratory retention of carbon dioxide.
HP:0005973	Fructose intolerance	biolink:PhenotypicFeature	hp	MSH:D005633|SNOMEDCT_US:20052008|UMLS:C0016751		Fructose malabsorption	http://purl.obolibrary.org/obo/HP_0005973	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	biolink:PhenotypicFeature	hp	UMLS:C1859860		Ketoacidosis, episodic	http://purl.obolibrary.org/obo/HP_0005974	Intermittent episodes of ketoacidosis.
HP:0005976	Hyperkalemic metabolic acidosis	biolink:PhenotypicFeature	hp	UMLS:C1865880			http://purl.obolibrary.org/obo/HP_0005976	
HP:0005977	Hypochloremic metabolic alkalosis	biolink:PhenotypicFeature	hp	UMLS:C0740895			http://purl.obolibrary.org/obo/HP_0005977	
HP:0005978	Type II diabetes mellitus	biolink:PhenotypicFeature	hp	MSH:D003924|SNOMEDCT_US:44054006|UMLS:C0011860		NIDDM|Noninsulin-dependent diabetes|Type 2 diabetes|Type II diabetes|Diabetes mellitus Type II|Diabetes mellitus, noninsulin-dependent|NIDDM diabetes mellitus|Non-insulin dependent diabetes|Noninsulin dependent diabetes mellitus|Diabetes mellitus type 2|Noninsulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/HP_0005978	A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
HP:0005979	Metabolic ketoacidosis	biolink:PhenotypicFeature	hp	MSH:D007662|UMLS:C1854704		Starvation ketoacidosis	http://purl.obolibrary.org/obo/HP_0005979	A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.
HP:0005982	Reduced phenylalanine hydroxylase level	biolink:PhenotypicFeature	hp	MSH:D010661|SNOMEDCT_US:7573000|UMLS:C0751434|UMLS:C4025094		Phenylalanine hydroxylase deficiency	http://purl.obolibrary.org/obo/HP_0005982	A reduction in phenylalanine 4-monooxygenase level.
HP:0005984	Elevated maternal serum alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C0740927			http://purl.obolibrary.org/obo/HP_0005984	An elevation of alpha-feto protein in the maternal serum.
HP:0005986	Limitation of neck motion	biolink:PhenotypicFeature	hp	MSH:D009127|SNOMEDCT_US:161882006|SNOMEDCT_US:405947006|UMLS:C0151315|UMLS:C1320474|UMLS:C1847392		Limited neck mobility|Limitation of neck motion|Restricted neck movement	http://purl.obolibrary.org/obo/HP_0005986	
HP:0005987	Multinodular goiter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237570007|UMLS:C0342208		Multinodular goitre	http://purl.obolibrary.org/obo/HP_0005987	Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.
HP:0005988	Congenital muscular torticollis	biolink:PhenotypicFeature	hp	MSH:C535425|SNOMEDCT_US:268240006|UMLS:C0079352		Torticollis, congenital	http://purl.obolibrary.org/obo/HP_0005988	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	biolink:PhenotypicFeature	hp	UMLS:C1840319		Excess neck skin|Excess skin over the neck|Redundant neck skin|Redundant skin folds of neck|Redundant skin over the neck|Excessive nuchal skin|Redundant nuchal skin	http://purl.obolibrary.org/obo/HP_0005989	Excess skin around the neck, often lying in horizontal folds.
HP:0005990	Thyroid hypoplasia	biolink:PhenotypicFeature	hp	MSH:D050033|SNOMEDCT_US:367524008|UMLS:C0151516		Small thyroid gland|Hypoplastic thyroid	http://purl.obolibrary.org/obo/HP_0005990	Developmental hypoplasia of the thyroid gland.
HP:0005991	Limited neck flexion	biolink:PhenotypicFeature	hp	UMLS:C1864449		Limited neck flexibility|Limited cervical flexion	http://purl.obolibrary.org/obo/HP_0005991	Reduced abilty to lower the chin towards the chest by bending the neck.
HP:0005994	Nodular goiter	biolink:PhenotypicFeature	hp	MSH:D006044|SNOMEDCT_US:419153005|UMLS:C0018023		Nodular goitre	http://purl.obolibrary.org/obo/HP_0005994	Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.
HP:0005995	Decreased adipose tissue around neck	biolink:PhenotypicFeature	hp	UMLS:C1837763		Loss of fat around neck|Loss of adipose tissue around the neck	http://purl.obolibrary.org/obo/HP_0005995	Reduced amount of adipose tissue in the region of the neck.
HP:0005997	Restricted neck movement due to contractures	biolink:PhenotypicFeature	hp	UMLS:C1867006		Restricted neck mobility due to contractures|Restricted neck movement due to contractures|Neck flexion contracture	http://purl.obolibrary.org/obo/HP_0005997	
HP:0005999	Ureteral atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204974003|SNOMEDCT_US:49534003|UMLS:C0266320			http://purl.obolibrary.org/obo/HP_0005999	A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.
HP:0006000	Ureteral obstruction	biolink:PhenotypicFeature	hp	Fyler:4492|MSH:D014517|SNOMEDCT_US:20018005|UMLS:C0041956			http://purl.obolibrary.org/obo/HP_0006000	Obstruction of the flow of urine through the ureter.
HP:0006006	Hypotrophy of the small hand muscles	biolink:PhenotypicFeature	hp	UMLS:C1843228		Degeneration of small hand muscles	http://purl.obolibrary.org/obo/HP_0006006	
HP:0006008	Unilateral brachydactyly	biolink:PhenotypicFeature	hp	UMLS:C1868164|UMLS:C4280467		Short digits on one side	http://purl.obolibrary.org/obo/HP_0006008	
HP:0006009	Broad phalanx	biolink:PhenotypicFeature	hp	UMLS:C1855185		Wide digital bones|Broad phalanges|Wide phalanges|Widened phalanges	http://purl.obolibrary.org/obo/HP_0006009	Increased side-to-side width of one or more phalanges of the fingers or toes.
HP:0006011	Cuboidal metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4025093		Short, cube shaped long bone of hand	http://purl.obolibrary.org/obo/HP_0006011	Severely shortened metacarpal with a cuboidal appearance.
HP:0006012	Widened metacarpal shaft	biolink:PhenotypicFeature	hp	UMLS:C1850159		Broad shaft of long bone of hand	http://purl.obolibrary.org/obo/HP_0006012	
HP:0006014	Abnormally shaped carpal bones	biolink:PhenotypicFeature	hp	UMLS:C1860111		Abnormally shaped wrist bones	http://purl.obolibrary.org/obo/HP_0006014	
HP:0006016	Delayed phalangeal epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C4021609		Delayed bone maturation of end part of digital bone|Delayed phalangeal epiphyseal bone maturation	http://purl.obolibrary.org/obo/HP_0006016	Delay in the process of formation and maturation of the epiphysis of one or more phalanx.
HP:0006019	Reduced proximal interphalangeal joint space	biolink:PhenotypicFeature	hp	UMLS:C1861396		Decreased space in hinge joint	http://purl.obolibrary.org/obo/HP_0006019	
HP:0006026	Rounded epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1850632		Rounded end part of bone	http://purl.obolibrary.org/obo/HP_0006026	
HP:0006028	Metaphyseal cupping of metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1855171		Cupping of wide portion of long bone of hand|Metacarpal/metaphyseal cupping	http://purl.obolibrary.org/obo/HP_0006028	Metaphyseal cupping affecting the metacarpal bones.
HP:0006035	Cone-shaped epiphyses of phalanges 2 to 5	biolink:PhenotypicFeature	hp	UMLS:C1857005		Cone-shaped end part of digital bones 2 to 5	http://purl.obolibrary.org/obo/HP_0006035	
HP:0006040	Long second metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1861531		Long 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0006040	
HP:0006042	Y-shaped metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1861373		Y-shaped long bone of hand	http://purl.obolibrary.org/obo/HP_0006042	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	biolink:PhenotypicFeature	hp	UMLS:C1849740		Short pointed digital bones	http://purl.obolibrary.org/obo/HP_0006045	
HP:0006048	Distal widening of metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1865254		Wide outermost end of long bone	http://purl.obolibrary.org/obo/HP_0006048	Abnormal increase in width of the distal region of the metacarpal bones.
HP:0006051	Metacarpal periosteal thickening	biolink:PhenotypicFeature	hp	UMLS:C1834347			http://purl.obolibrary.org/obo/HP_0006051	
HP:0006055	Ulnar deviated club hands	biolink:PhenotypicFeature	hp	UMLS:C1833881			http://purl.obolibrary.org/obo/HP_0006055	
HP:0006059	Cone-shaped metacarpal epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1855239		Cone-shaped end part of long bone|Metacarpal cone-shaped epiphyses	http://purl.obolibrary.org/obo/HP_0006059	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	biolink:PhenotypicFeature	hp	UMLS:C1862420		Tombstone-shaped innermost digital bones	http://purl.obolibrary.org/obo/HP_0006060	
HP:0006064	Limited interphalangeal movement	biolink:PhenotypicFeature	hp	UMLS:C1840089		Limited movement of hinge joints	http://purl.obolibrary.org/obo/HP_0006064	
HP:0006067	Multiple carpal ossification centers	biolink:PhenotypicFeature	hp	UMLS:C1835573		Multiple carpal ossification centres	http://purl.obolibrary.org/obo/HP_0006067	A delay in the process of formation and maturation of the epiphysis of one or more long bones.
HP:0006069	Severe carpal ossification delay	biolink:PhenotypicFeature	hp	UMLS:C1866703|UMLS:C4280466		Severe delay in maturation of wrist bone	http://purl.obolibrary.org/obo/HP_0006069	
HP:0006070	Metacarpophalangeal joint contracture	biolink:PhenotypicFeature	hp	UMLS:C2677209		Metacarpal/phalangeal joint contractures	http://purl.obolibrary.org/obo/HP_0006070	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	biolink:PhenotypicFeature	hp	UMLS:C1850048			http://purl.obolibrary.org/obo/HP_0006077	Absence of the proximal interphalangeal flexion creases of the fingers.
HP:0006086	Thin metacarpal cortices	biolink:PhenotypicFeature	hp	UMLS:C1850160			http://purl.obolibrary.org/obo/HP_0006086	
HP:0006088	1-5 finger complete cutaneous syndactyly	biolink:PhenotypicFeature	hp	UMLS:C1861357			http://purl.obolibrary.org/obo/HP_0006088	
HP:0006089	Palmar hyperhidrosis	biolink:PhenotypicFeature	hp	UMLS:C1856953		Excessive sweating of hands	http://purl.obolibrary.org/obo/HP_0006089	
HP:0006092	Malaligned carpal bone	biolink:PhenotypicFeature	hp	UMLS:C1856742		Incorrect alignment of wrist bone	http://purl.obolibrary.org/obo/HP_0006092	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298193009|UMLS:C0574974		Increased mobility in finger joint	http://purl.obolibrary.org/obo/HP_0006094	
HP:0006095	Wide tufts of distal phalanges	biolink:PhenotypicFeature	hp	UMLS:C1835101		Wide tips of outermost digital bone	http://purl.obolibrary.org/obo/HP_0006095	
HP:0006097	3-4 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C1856889		Webbed 3rd-4th fingers|Partial or complete syndactyly 3rd-4th fingers|Webbed 3rd-4th finger	http://purl.obolibrary.org/obo/HP_0006097	Syndactyly with fusion of fingers three and four.
HP:0006099	Metacarpophalangeal joint hyperextensibility	biolink:PhenotypicFeature	hp	UMLS:C4025092			http://purl.obolibrary.org/obo/HP_0006099	Increased mobility of one ore more metacarpophalangeal joint.
HP:0006101	Finger syndactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249769001|SNOMEDCT_US:268251006|SNOMEDCT_US:34048007|UMLS:C0221352		Partial syndactyly	http://purl.obolibrary.org/obo/HP_0006101	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	biolink:PhenotypicFeature	hp	UMLS:C1847191			http://purl.obolibrary.org/obo/HP_0006106	
HP:0006107	Fingerpad telangiectases	biolink:PhenotypicFeature	hp	UMLS:C1861248		Small dilated blood vessels in fingerpads|Finger pad telangiectases	http://purl.obolibrary.org/obo/HP_0006107	Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.
HP:0006108	Tapered metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4025091		Tapered long bones of hand	http://purl.obolibrary.org/obo/HP_0006108	Metacarpal that becomes thinner toward the distal end.
HP:0006109	Absent phalangeal crease	biolink:PhenotypicFeature	hp	UMLS:C1862479|UMLS:C4020821		Absent interphalangeal creases|Aplasia of the interphalangeal creases	http://purl.obolibrary.org/obo/HP_0006109	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	biolink:PhenotypicFeature	hp	UMLS:C1856912			http://purl.obolibrary.org/obo/HP_0006110	Short, hypoplastic middle phalanx of finger, affecting all fingers.
HP:0006112	Expanded phalanges with widened medullary cavities	biolink:PhenotypicFeature	hp	UMLS:C1969287			http://purl.obolibrary.org/obo/HP_0006112	
HP:0006114	Multiple palmar creases	biolink:PhenotypicFeature	hp	UMLS:C1861872		Multiple palm lines	http://purl.obolibrary.org/obo/HP_0006114	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	biolink:PhenotypicFeature	hp	UMLS:C4021608		Shortening of all outermost bones of the fingers|Brachytelephalangy	http://purl.obolibrary.org/obo/HP_0006118	Hypoplasia of all of the distal phalanx of finger.
HP:0006119	Proximal tapering of metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1854749	hposlim_core	Pointed innermost long bone of hand|Pointed proximal metacarpals	http://purl.obolibrary.org/obo/HP_0006119	Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.
HP:0006121	Acral ulceration	biolink:PhenotypicFeature	hp	UMLS:C1860099			http://purl.obolibrary.org/obo/HP_0006121	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	biolink:PhenotypicFeature	hp	UMLS:C4025090		Long innermost finger bone	http://purl.obolibrary.org/obo/HP_0006127	Increased length of the proximal phalanx of finger.
HP:0006129	Drumstick terminal phalanges	biolink:PhenotypicFeature	hp	UMLS:C1844822		Drumstick shaped digital bones	http://purl.obolibrary.org/obo/HP_0006129	Rounding and broadening of the tufts of the distal phalanges.
HP:0006134	Enlarged metacarpal epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1865035		Enlarged end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0006134	Abnormally large size of the metaphyseal epiphyses.
HP:0006135	Decreased finger mobility	biolink:PhenotypicFeature	hp	UMLS:C1862133		Decreased finger mobility|Decreased finger movement	http://purl.obolibrary.org/obo/HP_0006135	
HP:0006136	Bilateral postaxial polydactyly	biolink:PhenotypicFeature	hp	UMLS:C1855003			http://purl.obolibrary.org/obo/HP_0006136	
HP:0006140	Premature fusion of phalangeal epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1855620		Premature fusion of end part of digital bone	http://purl.obolibrary.org/obo/HP_0006140	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 creases	biolink:PhenotypicFeature	hp	UMLS:C1859481			http://purl.obolibrary.org/obo/HP_0006143	
HP:0006144	Shortening of all proximal phalanges of the fingers	biolink:PhenotypicFeature	hp	UMLS:C4025089		Shortening of all innermost bones of the fingers	http://purl.obolibrary.org/obo/HP_0006144	Congenital hypoplasia of proximal phalanx of finger or all fingers.
HP:0006145	Central Y-shaped metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1848597		Y-shaped central long bones of hand	http://purl.obolibrary.org/obo/HP_0006145	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	biolink:PhenotypicFeature	hp	UMLS:C4025088		Broad end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0006146	Increased side-to-side width of the metacarpal epiphyses.
HP:0006147	Progressive fusion 2nd-5th pip joints	biolink:PhenotypicFeature	hp	UMLS:C1861310			http://purl.obolibrary.org/obo/HP_0006147	
HP:0006149	Increased laxity of fingers	biolink:PhenotypicFeature	hp	UMLS:C1850855			http://purl.obolibrary.org/obo/HP_0006149	
HP:0006150	Swan neck-like deformities of the fingers	biolink:PhenotypicFeature	hp	UMLS:C1849152			http://purl.obolibrary.org/obo/HP_0006150	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	biolink:PhenotypicFeature	hp	UMLS:C4021607		Fused innermost hinge joints|Proximal interphalangeal joint synostoses	http://purl.obolibrary.org/obo/HP_0006152	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	biolink:PhenotypicFeature	hp	UMLS:C2675549		Disharmonious wrist bone	http://purl.obolibrary.org/obo/HP_0006153	
HP:0006155	Long phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4025087		Long finger bone	http://purl.obolibrary.org/obo/HP_0006155	Increased length of multiple or a single phalanx of finger.
HP:0006156	Ulnar deviation of thumb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299137000|UMLS:C0575904|UMLS:C4280465		Curved thumb deviated towards palm|Ulnar deviation of the 1st finger	http://purl.obolibrary.org/obo/HP_0006156	Bending or curvature of a thumb towards the ulnar side (towards the ring finger).
HP:0006157	Prominent palmar flexion creases	biolink:PhenotypicFeature	hp	UMLS:C1865131|UMLS:C4280464		Prominent life line	http://purl.obolibrary.org/obo/HP_0006157	
HP:0006158	obsolete Finger joint hyperextensibility	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0006158	
HP:0006159	Mesoaxial hand polydactyly	biolink:PhenotypicFeature	hp	UMLS:C4021606	hposlim_core	Interdigital finger polydactyly|Central hand polydactyly	http://purl.obolibrary.org/obo/HP_0006159	The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
HP:0006160	Irregular metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4025086		Irregular long bones of hand	http://purl.obolibrary.org/obo/HP_0006160	Irregular morphology of one or more metacarpal bones.
HP:0006161	Short metacarpals with rounded proximal ends	biolink:PhenotypicFeature	hp	UMLS:C1856471		Short long bone of hand with rounded innermost ends	http://purl.obolibrary.org/obo/HP_0006161	
HP:0006162	Soft tissue swelling of interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1854913		Soft tissue swelling of hinge joints	http://purl.obolibrary.org/obo/HP_0006162	
HP:0006163	Enlarged metacarpophalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1859700			http://purl.obolibrary.org/obo/HP_0006163	
HP:0006165	Proportionate shortening of all digits	biolink:PhenotypicFeature	hp	UMLS:C1862157		Proportionate shortening of all digits	http://purl.obolibrary.org/obo/HP_0006165	
HP:0006166	Tubular metacarpal bones	biolink:PhenotypicFeature	hp	UMLS:C1859369		Cylindrical shaped long bones of hand	http://purl.obolibrary.org/obo/HP_0006166	
HP:0006167	Prominent proximal interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C4025085		Prominent innermost hinge joints	http://purl.obolibrary.org/obo/HP_0006167	
HP:0006169	Decreased mobility 3rd-5th fingers	biolink:PhenotypicFeature	hp	UMLS:C1833882		Decreased mobility 3rd-5th fingers	http://purl.obolibrary.org/obo/HP_0006169	
HP:0006170	Chess-pawn distal phalanges	biolink:PhenotypicFeature	hp	UMLS:C1862097		Chess-pawn shaped outermost bone	http://purl.obolibrary.org/obo/HP_0006170	A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.
HP:0006172	Flattened, squared-off epiphyses of tubular bones	biolink:PhenotypicFeature	hp	UMLS:C1834961		Flattened, squared-off end part of tubular bones	http://purl.obolibrary.org/obo/HP_0006172	
HP:0006174	Metacarpal diaphyseal endosteal sclerosis	biolink:PhenotypicFeature	hp	UMLS:C1840419			http://purl.obolibrary.org/obo/HP_0006174	Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.
HP:0006175	Proximal phalangeal periosteal thickening	biolink:PhenotypicFeature	hp	UMLS:C1834348|UMLS:C4280463		Thickening of connective tissue of innermost finger bone	http://purl.obolibrary.org/obo/HP_0006175	
HP:0006176	Two carpal ossification centers present at birth	biolink:PhenotypicFeature	hp	UMLS:C1839285		Two carpal ossification centres present at birth	http://purl.obolibrary.org/obo/HP_0006176	
HP:0006179	Pseudoepiphyses of second metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1862693		Extra bone on end of second long bone of hand|Pseudoepiphysis of the 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0006179	
HP:0006180	Crowded carpal bones	biolink:PhenotypicFeature	hp	UMLS:C1863317		Crowded wrist bones	http://purl.obolibrary.org/obo/HP_0006180	
HP:0006184	Decreased palmar creases	biolink:PhenotypicFeature	hp	UMLS:C1857483	hposlim_core	Shallow palm line|Hypoplastic palmar creases|Poorly formed palmar creases|Shallow palmar creases	http://purl.obolibrary.org/obo/HP_0006184	Poorly defined or shallow palmar creases.
HP:0006185	Enlarged proximal interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1861350		Enlarged innermost hinge joint	http://purl.obolibrary.org/obo/HP_0006185	
HP:0006187	Fusion of midphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1861332			http://purl.obolibrary.org/obo/HP_0006187	
HP:0006189	Prominent interdigital folds	biolink:PhenotypicFeature	hp	UMLS:C1866000			http://purl.obolibrary.org/obo/HP_0006189	
HP:0006190	Radially deviated wrists	biolink:PhenotypicFeature	hp	UMLS:C1861316			http://purl.obolibrary.org/obo/HP_0006190	
HP:0006191	Deep palmar crease	biolink:PhenotypicFeature	hp	UMLS:C1857539	hposlim_core	Deep palm line|Deep palmar creases	http://purl.obolibrary.org/obo/HP_0006191	Excessively deep creases of the palm.
HP:0006192	Tapered phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4025084		Tapered finger bone	http://purl.obolibrary.org/obo/HP_0006192	Phalanges of the fingers becoming thinner toward the distal end.
HP:0006193	Thimble-shaped middle phalanges of hand	biolink:PhenotypicFeature	hp	UMLS:C4025083		Thimble-shaped middle bones of hand	http://purl.obolibrary.org/obo/HP_0006193	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	biolink:PhenotypicFeature	hp	UMLS:C1862421		Widened outermost bone of limb	http://purl.obolibrary.org/obo/HP_0006200	
HP:0006201	Hypermobility of distal interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1851811		Increased mobility of outermost hinge joint	http://purl.obolibrary.org/obo/HP_0006201	
HP:0006202	Osteolysis of scaphoids	biolink:PhenotypicFeature	hp	UMLS:C4025082			http://purl.obolibrary.org/obo/HP_0006202	
HP:0006203	Decreased movement range in interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1836772		Decreased range of movement range in hinge joints	http://purl.obolibrary.org/obo/HP_0006203	
HP:0006205	Irregular phalanges	biolink:PhenotypicFeature	hp	UMLS:C4025081		Irregular finger bones	http://purl.obolibrary.org/obo/HP_0006205	Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.
HP:0006206	Hypersegmentation of proximal phalanx of second finger	biolink:PhenotypicFeature	hp	UMLS:C4025080			http://purl.obolibrary.org/obo/HP_0006206	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	biolink:PhenotypicFeature	hp	UMLS:C1844519			http://purl.obolibrary.org/obo/HP_0006207	
HP:0006208	Metaphyseal cupping of proximal phalanges	biolink:PhenotypicFeature	hp	UMLS:C1834980			http://purl.obolibrary.org/obo/HP_0006208	Metaphyseal cupping affecting the proximal phalanges.
HP:0006209	Partial-complete absence of 5th phalanges	biolink:PhenotypicFeature	hp	UMLS:C1867928		Partial-complete absence of 5th digital bone	http://purl.obolibrary.org/obo/HP_0006209	
HP:0006210	Postaxial oligodactyly	biolink:PhenotypicFeature	hp	UMLS:C1867927			http://purl.obolibrary.org/obo/HP_0006210	
HP:0006213	Thin proximal phalanges with broad epiphyses of the hand	biolink:PhenotypicFeature	hp	UMLS:C1862156|UMLS:C4025079		Thin innermost bone with broad end part of the hand bone|Thin proximal phalanges with broad epiphyses	http://purl.obolibrary.org/obo/HP_0006213	
HP:0006216	Single interphalangeal crease of fifth finger	biolink:PhenotypicFeature	hp	UMLS:C1850336		Fifth finger single interphalangeal crease	http://purl.obolibrary.org/obo/HP_0006216	Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.
HP:0006217	Limited mobility of proximal interphalangeal joint	biolink:PhenotypicFeature	hp	UMLS:C1857288		Limited mobility of innermost hinge joint	http://purl.obolibrary.org/obo/HP_0006217	
HP:0006224	Tapering pointed ends of distal finger phalanges	biolink:PhenotypicFeature	hp	UMLS:C4025078			http://purl.obolibrary.org/obo/HP_0006224	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37895003|UMLS:C0409956			http://purl.obolibrary.org/obo/HP_0006226	
HP:0006228	Valgus hand deformity	biolink:PhenotypicFeature	hp	UMLS:C1860179			http://purl.obolibrary.org/obo/HP_0006228	
HP:0006230	Unilateral oligodactyly	biolink:PhenotypicFeature	hp	UMLS:C3805861			http://purl.obolibrary.org/obo/HP_0006230	
HP:0006232	Expanded metacarpals with widened medullary cavities	biolink:PhenotypicFeature	hp	UMLS:C1969288			http://purl.obolibrary.org/obo/HP_0006232	
HP:0006233	Osteoarthritis of the distal interphalangeal joint	biolink:PhenotypicFeature	hp	SNOMEDCT_US:239869009|UMLS:C0409957			http://purl.obolibrary.org/obo/HP_0006233	
HP:0006234	Osteolysis involving tarsal bones	biolink:PhenotypicFeature	hp	UMLS:C1833735		Tarsal bone osteolysis|Tarsal osteolysis	http://purl.obolibrary.org/obo/HP_0006234	An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
HP:0006236	Slender metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4025077		Slender long bones of hand	http://purl.obolibrary.org/obo/HP_0006236	Decreased width of the metacarpal bones (that is, reduced diameter).
HP:0006237	Prominent interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1859115		Prominent hinge joints	http://purl.obolibrary.org/obo/HP_0006237	
HP:0006239	Shortening of all middle phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4021605		Shortening of all the middle bones of the toes|Brachymesophalangy of feet	http://purl.obolibrary.org/obo/HP_0006239	Abnormal shortening of all middle phalanges of toes.
HP:0006243	Phalangeal dislocation	biolink:PhenotypicFeature	hp	UMLS:C2673396			http://purl.obolibrary.org/obo/HP_0006243	
HP:0006247	Enlarged interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1859701		Enlarged hinge joints	http://purl.obolibrary.org/obo/HP_0006247	
HP:0006248	Limited wrist movement	biolink:PhenotypicFeature	hp	UMLS:C1840088	hposlim_core	Limited movement of the wrist|Limited wrist movement	http://purl.obolibrary.org/obo/HP_0006248	An abnormal limitation of the mobility of the wrist.
HP:0006251	Limited wrist extension	biolink:PhenotypicFeature	hp	UMLS:C1862481			http://purl.obolibrary.org/obo/HP_0006251	
HP:0006252	Interphalangeal joint erosions	biolink:PhenotypicFeature	hp	UMLS:C1850158			http://purl.obolibrary.org/obo/HP_0006252	
HP:0006253	Swelling of proximal interphalangeal joints	biolink:PhenotypicFeature	hp	UMLS:C1860841		Swelling of innermost hinge joints	http://purl.obolibrary.org/obo/HP_0006253	
HP:0006254	Elevated alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C0235971|UMLS:C0476489		Increased levels of alpha fetoprotein|Increased serum alpha-fetoprotein|Serum alpha-fetoprotein increased|Alpha fetoprotein abnormal	http://purl.obolibrary.org/obo/HP_0006254	An increased concentration of alpha-fetoprotein.
HP:0006256	Abnormality of hand joint mobility	biolink:PhenotypicFeature	hp	UMLS:C4025076		Abnormality of hand joint mobility	http://purl.obolibrary.org/obo/HP_0006256	
HP:0006257	Abnormality of carpal bone ossification	biolink:PhenotypicFeature	hp	UMLS:C4025075		Abnormal ankle bone maturation	http://purl.obolibrary.org/obo/HP_0006257	
HP:0006261	Abnormal phalangeal joint morphology of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021604		Abnormality of the small joints of the hand|Abnormality of phalangeal joints of the hand	http://purl.obolibrary.org/obo/HP_0006261	
HP:0006262	Aplasia/Hypoplasia of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4025074		Absent/small little finger|Absent/small pinkie finger|Absent/small pinky finger|Absent/underdeveloped little finger|Absent/underdeveloped pinkie finger|Absent/underdeveloped pinky finger	http://purl.obolibrary.org/obo/HP_0006262	A small/hypoplastic or absent/aplastic 5th finger.
HP:0006263	Abnormality of the epiphyses of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4025073		Abnormality of the end part of the index finger bone	http://purl.obolibrary.org/obo/HP_0006263	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	biolink:PhenotypicFeature	hp	UMLS:C4025072		Absent/small index finger|Absent/underdeveloped index finger	http://purl.obolibrary.org/obo/HP_0006264	A small/hypoplastic or absent/aplastic 2nd finger.
HP:0006265	Aplasia/Hypoplasia of fingers	biolink:PhenotypicFeature	hp	UMLS:C4025071		Absent/small fingers|Absent/underdeveloped fingers	http://purl.obolibrary.org/obo/HP_0006265	Small/hypoplastic or absent/aplastic fingers.
HP:0006266	Small placenta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:289264006|UMLS:C0566694		Small placenta	http://purl.obolibrary.org/obo/HP_0006266	Reduced size of the placenta.
HP:0006267	Large placenta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:289263000|UMLS:C0566693		Large placenta|Placental enlargement	http://purl.obolibrary.org/obo/HP_0006267	Increased size of the placenta.
HP:0006268	Fluctuating splenomegaly	biolink:PhenotypicFeature	hp	UMLS:C1835882			http://purl.obolibrary.org/obo/HP_0006268	Intermittently increased size of the spleen.
HP:0006270	Hypoplastic spleen	biolink:PhenotypicFeature	hp	UMLS:C1970617		Underdeveloped spleen	http://purl.obolibrary.org/obo/HP_0006270	Underdevelopment of the spleen.
HP:0006273	Pancreatic lymphangiectasis	biolink:PhenotypicFeature	hp	UMLS:C1856162			http://purl.obolibrary.org/obo/HP_0006273	The presence of lymphangiectasis in the pancreas.
HP:0006274	Reduced pancreatic beta cells	biolink:PhenotypicFeature	hp	UMLS:C1856904			http://purl.obolibrary.org/obo/HP_0006274	Reduced number of beta cells in the pancreatic islets of Langerhans.
HP:0006276	Hyperechogenic pancreas	biolink:PhenotypicFeature	hp	UMLS:C1857945			http://purl.obolibrary.org/obo/HP_0006276	
HP:0006277	Pancreatic hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C1851733			http://purl.obolibrary.org/obo/HP_0006277	Hyperplasia of the pancreas.
HP:0006278	Ectopic pancreatic tissue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:264304000|UMLS:C0994638		Abnormal pancreas location	http://purl.obolibrary.org/obo/HP_0006278	The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.
HP:0006279	Beta-cell dysfunction	biolink:PhenotypicFeature	hp	UMLS:C1969875			http://purl.obolibrary.org/obo/HP_0006279	
HP:0006280	Chronic pancreatitis	biolink:PhenotypicFeature	hp	MSH:D050500|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|UMLS:C0149521		Chronic pancreas inflammation	http://purl.obolibrary.org/obo/HP_0006280	A chronic form of pancreatitis.
HP:0006282	Generalized hypoplasia of dental enamel	biolink:PhenotypicFeature	hp	UMLS:C4025070|UMLS:C4280462		Generalised hypoplasia of dental enamel|Generalized hypoplasia of tooth enamel|Generalized dysplasia of tooth enamel	http://purl.obolibrary.org/obo/HP_0006282	A generalized form of developmental hypoplasia of the dental enamel.
HP:0006283	Multiple unerupted teeth	biolink:PhenotypicFeature	hp	UMLS:C4025069		Multiple non-erupting teeth|Multiple unerupted teeth|Failure of eruption of multiple teeth	http://purl.obolibrary.org/obo/HP_0006283	The presence of multiple embedded tooth germs which have failed to erupt.
HP:0006285	Hypomineralization of enamel	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109487003|UMLS:C3665628|UMLS:C4280253|UMLS:C4280460|UMLS:C4280461		Poorly mineralized tooth enamel|Decreased enamel mineralisation|Mottled tooth enamel|Increased porosity of tooth enamel|Fluorosis of tooth enamel|White spot lesions of tooth enamel	http://purl.obolibrary.org/obo/HP_0006285	A decreased amount of enamel mineralization.
HP:0006286	Yellow-brown discoloration of the teeth	biolink:PhenotypicFeature	hp	UMLS:C1863008		Yellow-brown discoloration of the teeth|Yellow-brown discolored teeth|Yellow-brown tooth shade	http://purl.obolibrary.org/obo/HP_0006286	
HP:0006288	Advanced eruption of teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16000003|UMLS:C0266054		Early eruption of teeth|Advanced dental eruption|Advanced tooth eruption|Early dental eruption|Eruption, advanced|Premature dental eruption|Premature eruption of teeth|Premature tooth eruption	http://purl.obolibrary.org/obo/HP_0006288	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	biolink:PhenotypicFeature	hp	UMLS:C1855000|UMLS:C4020819		Absent central incisor|Absent central incisors|Missing central incisors|Failure of development of central incisor	http://purl.obolibrary.org/obo/HP_0006289	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	biolink:PhenotypicFeature	hp	UMLS:C1866510|UMLS:C4280459		Abnormality of color of front teeth|Discolored front teeth|Discoloured lateral incisors|Abnormality of color of lateral incisor|Abnormality of shade of lateral incisor	http://purl.obolibrary.org/obo/HP_0006290	The presence of discolored lateral incisors.
HP:0006291	Marked delay in eruption of permanent teeth	biolink:PhenotypicFeature	hp	UMLS:C1863009		Severe delay of eruption of adult teeth|Severe delay of eruption of permanent teeth|Very late eruption of adult teeth|Very late eruption of permanent teeth	http://purl.obolibrary.org/obo/HP_0006291	
HP:0006292	Abnormality of dental eruption	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1086101000119107|SNOMEDCT_US:234949000|UMLS:C0012767|UMLS:C1859363|UMLS:C3874458		Abnormality of tooth eruption|Disturbance of tooth eruption|Abnormal dental eruption|Anomaly of dental eruption|Anomaly of tooth eruption|Disorder of dental eruption|Disorder of tooth eruption|Disturbance of dental eruption	http://purl.obolibrary.org/obo/HP_0006292	An abnormality of tooth eruption.
HP:0006293	Agenesis of maxillary central incisor	biolink:PhenotypicFeature	hp	UMLS:C4025068|UMLS:C4280458		Missing upper central incisor|Failure of development of maxillary central incisor|Absence of maxillary central incisor|Missing maxillary central incisor	http://purl.obolibrary.org/obo/HP_0006293	Agenesis of upper secondary incisor or of upper central primary incisor.
HP:0006297	Hypoplasia of dental enamel	biolink:PhenotypicFeature	hp	MSH:D003744|SNOMEDCT_US:26597004|SNOMEDCT_US:699382004|SNOMEDCT_US:699421005|UMLS:C0011351|UMLS:C1851854|UMLS:C4280456|UMLS:C4280457		Thin dental enamel|Thin tooth enamel|Underdeveloped teeth enamel|Defective enamel matrix|Dental enamel hypoplasia|Enamel hypoplasia|Hypoplasia of tooth enamel|Dysplasia of tooth enamel|Enamel dysplasia	http://purl.obolibrary.org/obo/HP_0006297	Developmental hypoplasia of the dental enamel.
HP:0006298	Prolonged bleeding after dental extraction	biolink:PhenotypicFeature	hp	UMLS:C1969572		Prolonged bleeding after dental extraction	http://purl.obolibrary.org/obo/HP_0006298	Prolonged bleeding post dental extraction sufficient to require medical intervention.
HP:0006302	Dagger-shaped pulp calcifications	biolink:PhenotypicFeature	hp	UMLS:C4025067		Dagger shaped pulp denticles|Dagger shaped pulp stones	http://purl.obolibrary.org/obo/HP_0006302	Dagger-shaped calcifications in the dental pulp.
HP:0006304	Widely-spaced incisors	biolink:PhenotypicFeature	hp	SNOMEDCT_US:196409003|UMLS:C0399545		Gap between front teeth|Widely spaced front teeth|Anterior diastema of teeth|Diastema between front teeth|Diastema between incisors	http://purl.obolibrary.org/obo/HP_0006304	
HP:0006308	Atrophy of alveolar ridges	biolink:PhenotypicFeature	hp	UMLS:C1855642|UMLS:C4280454|UMLS:C4280455		Shrinking of gum ridges|Flattening of gum ridges|Atrophy of alveolar margins|Atrophy of alveolar processes of jaw|Resorption of alveolar margins|Resorption of alveolar processes of jaw|Resorption of alveolar ridges|Shrinking of alveolar ridges|Alveolar bone loss|Flattening of alveolar margin|Flattening of alveolar processes of jaw|Flattening of alveolar ridges	http://purl.obolibrary.org/obo/HP_0006308	
HP:0006311	Generalized microdontia	biolink:PhenotypicFeature	hp	UMLS:C4025065		Decreased size of all teeth|Decreased tooth mass|Decreased width of all teeth|Generalised microdontia|Hypotrophy of all teeth|Tooth mass insufficiency	http://purl.obolibrary.org/obo/HP_0006311	A generalized form of microdontia.
HP:0006313	Widely spaced primary teeth	biolink:PhenotypicFeature	hp	UMLS:C4021603		Wide gaps between baby teeth|Widely spaced baby teeth|Widely spaced milk teeth|Generalized spacing of primary teeth|Wide gaps between primary teeth|Widely spaced deciduous teeth	http://purl.obolibrary.org/obo/HP_0006313	Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.
HP:0006315	Single median maxillary incisor	biolink:PhenotypicFeature	hp	MSH:C537342|SNOMEDCT_US:707609006|UMLS:C1840235	hposlim_core	Only one upper front tooth|Single central incisor|Single central upper incisor|Single maxillary central incisor|Single median incisor|Single median maxillary central incisor|Single midline maxillary incisor|Single midline upper front tooth|Solitary median maxillary central incisor|Solitary midline maxillary central incisor|Solitary median maxillary central incisor syndrome	http://purl.obolibrary.org/obo/HP_0006315	The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.
HP:0006316	Irregularly spaced teeth	biolink:PhenotypicFeature	hp	UMLS:C1845878		Irregular dental spacing|Irregularly spaced teeth|Variability of spacing between teeth|Variability of dental spacing	http://purl.obolibrary.org/obo/HP_0006316	Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.
HP:0006321	Multiple non-erupting secondary teeth	biolink:PhenotypicFeature	hp	UMLS:C1848904		Failure of eruption of multiple adult teeth|Failure of eruption of multiple permanent teeth|Multiple non-erupting adult teeth|Multiple non-erupting permanent teeth|Multiple unerupted adult teeth|Multiple unerupted permanent teeth	http://purl.obolibrary.org/obo/HP_0006321	
HP:0006323	Premature loss of primary teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:122483006|SNOMEDCT_US:39034005|UMLS:C0266052	hposlim_core	Early loss of baby teeth|Premature loss of baby teeth|Early loss of deciduous teeth|Early loss of primary teeth|Premature deciduous tooth loss|Premature loss of deciduous teeth|Premature exfoliation of deciduous teeth|Premature exfoliation of primary teeth	http://purl.obolibrary.org/obo/HP_0006323	Loss of the primary (also known as deciduous) teeth before the usual age.
HP:0006326	Buried teeth encased in mucopolysaccharide	biolink:PhenotypicFeature	hp	UMLS:C4025064		Failure of dental eruption due to mucopolysaccharidoses|Failure of tooth eruption due to mucopolysaccharidoses|Impacted teeth due to mucopolysaccharidoses|Unerupted dentition due to mucopolysaccharidoses|Unerupted teeth due to mucopolysaccharidoses	http://purl.obolibrary.org/obo/HP_0006326	
HP:0006329	Alveolar process hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:708494003|UMLS:C1848905|UMLS:C3872671|UMLS:C4280451|UMLS:C4280452|UMLS:C4280453		Decreased size of alveolar process of jaw|Decreased size of alveolar ridge|Hypoplasia of alveolar ridge|Hypoplastic alveolar bone|Small alveolar process of jaw|Small alveolar ridge|Underdevelopment of alveolar process of jaw|Underdevelopment of alveolar ridge|Deficiency of alveolar process of jaw|Deficiency of alveolar ridge|Hypotrophic alveolar process of jaw|Hypotrophic alveolar ridge	http://purl.obolibrary.org/obo/HP_0006329	Underdevelopment of the alveolar process (also known as alveolar bone).
HP:0006330	Rotated maxillary central incisors	biolink:PhenotypicFeature	hp	UMLS:C4025063		Rotated upper central incisors|Rotated upper front teeth|Turned upper front teeth|Twisted upper front teeth	http://purl.obolibrary.org/obo/HP_0006330	
HP:0006332	Supernumerary maxillary incisor	biolink:PhenotypicFeature	hp	UMLS:C4025062		Extra upper front tooth	http://purl.obolibrary.org/obo/HP_0006332	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	biolink:PhenotypicFeature	hp	UMLS:C4021602		Crowded upper front teeth|Crowded upper incisors|Overlapped upper front teeth|Overlapped maxillary incisors	http://purl.obolibrary.org/obo/HP_0006333	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	biolink:PhenotypicFeature	hp	UMLS:C1855694		Decreased size of baby teeth|Decreased size of milk teeth|Small baby teeth|Small milk teeth|Underdevelopment of baby teeth|Underdevelopment of milk teeth|Decreased size of deciduous teeth|Decreased size of primary teeth|Hypoplastic deciduous teeth|Small primary teeth|Underdevelopment of primary teeth	http://purl.obolibrary.org/obo/HP_0006334	Developmental hypoplasia of the primary teeth.
HP:0006335	Persistence of primary teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:57650002|UMLS:C0266050		Delayed loss of baby teeth|Failure to lose baby teeth|Retained baby teeth|Deciduous teeth retention|Delayed loss of deciduous teeth|Delayed loss of primary teeth|Failure to exfoliate deciduous teeth|Failure to exfoliate primary teeth|Persistence of deciduous teeth|Persistent deciduous dentition|Persistent primary dentition|Persistent primary teeth|Retained deciduous teeth|Retained primary teeth	http://purl.obolibrary.org/obo/HP_0006335	Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
HP:0006336	Short dental roots	biolink:PhenotypicFeature	hp	UMLS:C2678330		Underdeveloped tooth roots|Decreased length of dental roots|Decreased length of tooth roots|Short dental roots|Short tooth roots|Underdeveloped dental roots	http://purl.obolibrary.org/obo/HP_0006336	Short dental root.
HP:0006337	Premature eruption of permanent teeth	biolink:PhenotypicFeature	hp	UMLS:C4021601	hposlim_core	Early eruption of adult teeth|Early eruption of permanent teeth|Premature eruption of adult teeth|Precocious eruption of secondary dentition|Precocious eruption of secondary teeth	http://purl.obolibrary.org/obo/HP_0006337	Premature tooth eruption of the permanent dentition.
HP:0006338	Malformation of mandibular premolar	biolink:PhenotypicFeature	hp	UMLS:C4025061		Malformation of lower premolar|Malformation of mandibular bicuspid	http://purl.obolibrary.org/obo/HP_0006338	An abnormality of the morphology of secondary premolar tooth.
HP:0006339	Conical mandibular incisor	biolink:PhenotypicFeature	hp	UMLS:C4020818|UMLS:C4280449|UMLS:C4280450		Cone shaped lower front tooth|Lower front shark tooth|Peg shaped lower front tooth|Conoid mandibular incisor|Peg shaped mandibular incisor|Pointed mandibular incisor|Pointed mandibular incisors	http://purl.obolibrary.org/obo/HP_0006339	An abnormal conical morphology of the primary or permanent mandibular incisors.
HP:0006342	Peg-shaped maxillary lateral incisors	biolink:PhenotypicFeature	hp	UMLS:C4025060		Peg laterals|Peg shaped upper lateral incisors|Cone shaped upper lateral incisors|Conical maxillary lateral incisors|Conoid upper lateral incisors|Pointed upper lateral incisors	http://purl.obolibrary.org/obo/HP_0006342	Peg-shaped upper lateral secondary incisor tooth.
HP:0006344	Abnormality of primary molar morphology	biolink:PhenotypicFeature	hp	UMLS:C4025059		Abnormality of shape of baby molar|Abnormality of deciduous molar morphology|Abnormality of shape of primary molar	http://purl.obolibrary.org/obo/HP_0006344	An abnormality of morphology of primary molar.
HP:0006346	Screwdriver-shaped incisors	biolink:PhenotypicFeature	hp	UMLS:C4025058		Screwdriver shaped front teeth|Screwdriver-shaped incisors	http://purl.obolibrary.org/obo/HP_0006346	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	biolink:PhenotypicFeature	hp	UMLS:C1855694|UMLS:C1856203		Decreased width of baby teeth|Decreased width of milk teeth|Decreased size of primary tooth|Decreased width of deciduous teeth|Decreased width of primary tooth|Microdontia of deciduous teeth|Small deciduous teeth	http://purl.obolibrary.org/obo/HP_0006347	Decreased size of the primary teeth.
HP:0006349	Agenesis of permanent teeth	biolink:PhenotypicFeature	hp	MSH:C563203|SNOMEDCT_US:109444001|SNOMEDCT_US:234948008|UMLS:C0457756|UMLS:C1290511		Failure of development of permanent teeth|Missing teeth|Absence of permanent teeth|Absent permanent teeth|Agenesis of permanent dentition|Agenesis of secondary dentition|Failure of development of secondary teeth	http://purl.obolibrary.org/obo/HP_0006349	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	Obliteration of the pulp chamber	biolink:PhenotypicFeature	hp	UMLS:C4020817|UMLS:C4025057|UMLS:C4280448		Pulp canal obliteration|Reduced size of pulp chamber of tooth|Small pulp chamber of tooth|Narrowing of pulp chamber of tooth|Crescent/chevron-shaped pulp chambers	http://purl.obolibrary.org/obo/HP_0006350	Obliteration of the pulp chambers owing to mineralization of the dental pulp.
HP:0006352	Failure of eruption of permanent teeth	biolink:PhenotypicFeature	hp	UMLS:C4025056|UMLS:C4280447		Unerupted adult teeth|Unerupted permanent teeth|Unerupted adult dentition|Unerupted permanent dentition|Failure of eruption of adult teeth	http://purl.obolibrary.org/obo/HP_0006352	Lack of tooth eruption of the secondary dentition.
HP:0006353	Hypoplasia of the tooth germ	biolink:PhenotypicFeature	hp	UMLS:C4025055		Underdevelopment of tooth bud|Decreased size of tooth bud|Small tooth bud|Underdevelopment of tooth germ|Decreased size of tooth germ|Hypotrophic tooth germ|Small tooth germ|Hypoplastic tooth buds	http://purl.obolibrary.org/obo/HP_0006353	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	biolink:PhenotypicFeature	hp	UMLS:C1840225|UMLS:C4025054		Absence of lower central incisor|Missing lower central incisor|Failure of development of mandibular central incisor|Absence of mandibular central incisor|Missing mandibular central incisor	http://purl.obolibrary.org/obo/HP_0006355	Agenesis of lower secondary incisor or lower primary incisor.
HP:0006357	Premature loss of permanent teeth	biolink:PhenotypicFeature	hp	UMLS:C1969738		Early loss of adult teeth|Early loss of permanent teeth|Premature loss of adult teeth|Early loss of secondary dentition|Premature loss of secondary teeth	http://purl.obolibrary.org/obo/HP_0006357	Premature loss of the permanent teeth.
HP:0006358	Shovel-shaped maxillary central incisors	biolink:PhenotypicFeature	hp	UMLS:C1833168		Shovel-shaped upper front teeth	http://purl.obolibrary.org/obo/HP_0006358	Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors.
HP:0006361	Irregular femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1850658		Irregular thighbone end part	http://purl.obolibrary.org/obo/HP_0006361	
HP:0006362	Varus deformity of humeral neck	biolink:PhenotypicFeature	hp	UMLS:C1854948			http://purl.obolibrary.org/obo/HP_0006362	
HP:0006366	Adductor longus contractures	biolink:PhenotypicFeature	hp	UMLS:C1859524			http://purl.obolibrary.org/obo/HP_0006366	
HP:0006367	Crumpled long bones	biolink:PhenotypicFeature	hp	UMLS:C1970497		Crumpled long bones	http://purl.obolibrary.org/obo/HP_0006367	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	biolink:PhenotypicFeature	hp	UMLS:C1849327			http://purl.obolibrary.org/obo/HP_0006368	
HP:0006369	Irregular patellae	biolink:PhenotypicFeature	hp	UMLS:C1836870		Irregular patellar contour|Irregular patellar margins	http://purl.obolibrary.org/obo/HP_0006369	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	biolink:PhenotypicFeature	hp	UMLS:C4021600		Distal ulnar epiphyseal calcifications	http://purl.obolibrary.org/obo/HP_0006370	The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.
HP:0006371	Broad long bone diaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025053		Broad shaft of long bone|Wide shaft of long bone	http://purl.obolibrary.org/obo/HP_0006371	Increased width of the diaphysis of long bones.
HP:0006375	Dumbbell-shaped femur	biolink:PhenotypicFeature	hp	UMLS:C4025052		Dumbbell-shaped thighbone	http://purl.obolibrary.org/obo/HP_0006375	The femur is shortened and displays flaring (widening) of the metaphyses.
HP:0006376	Limited elbow flexion	biolink:PhenotypicFeature	hp	UMLS:C1856922			http://purl.obolibrary.org/obo/HP_0006376	
HP:0006378	Osteolysis of patellae	biolink:PhenotypicFeature	hp	UMLS:C4025051			http://purl.obolibrary.org/obo/HP_0006378	
HP:0006379	Proximal tibial hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1856029		Proximal tibial hypopolasia	http://purl.obolibrary.org/obo/HP_0006379	
HP:0006380	Knee flexion contracture	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202289003|UMLS:C0409355	hposlim_core	Inability to straighten knee|Contractures of knees|Contractures of the knees|Flexion contracture of knees|Flexion contractures at both knees|Flexion contractures of knees|Flexion deformity of the knee|Knee contracture|Knee contractures|Knee flexion contractures|Knee flexion deformity	http://purl.obolibrary.org/obo/HP_0006380	A bent (flexed) knee joint that cannot be straightened actively or passively.
HP:0006381	Rudimentary fibula	biolink:PhenotypicFeature	hp	UMLS:C1844706		Small to absent calf bone|Rudimentary to absent fibulae|Small to absent fibula	http://purl.obolibrary.org/obo/HP_0006381	Absent or nearly absent fibula. (Does not include aplastic)
HP:0006383	Progressive bowing of long bones	biolink:PhenotypicFeature	hp	UMLS:C1857137			http://purl.obolibrary.org/obo/HP_0006383	Progressive bending or abnormal curvature of a long bone.
HP:0006384	Club-shaped distal femur	biolink:PhenotypicFeature	hp	UMLS:C1857505		Club-shaped outermost end of thighbone|Club-shaped distal femora	http://purl.obolibrary.org/obo/HP_0006384	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249786007|UMLS:C0426901	hposlim_core	Short legs|Short lower limbs	http://purl.obolibrary.org/obo/HP_0006385	Shortening of the legs related to developmental hypoplasia of the bones of the leg.
HP:0006386	Hypoplastic distal radial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1969286			http://purl.obolibrary.org/obo/HP_0006386	Underdevelopment of the distal epiphysis of the radius.
HP:0006387	Wide distal femoral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C1849309		Broad outermost wide portion of thighbone|Wide distal metaphysis of femur	http://purl.obolibrary.org/obo/HP_0006387	Increased width of the distal part of the shaft (metaphysis) of the femur.
HP:0006389	Limited knee flexion	biolink:PhenotypicFeature	hp	UMLS:C1839512			http://purl.obolibrary.org/obo/HP_0006389	Reduced ability to flex (bend) the knee joint.
HP:0006390	Anterior tibial bowing	biolink:PhenotypicFeature	hp	UMLS:C1861937		Anterior bowing of tibia	http://purl.obolibrary.org/obo/HP_0006390	An abnormal anterior bending or curvature of the tibia.
HP:0006391	Overtubulated long bones	biolink:PhenotypicFeature	hp	UMLS:C1848769			http://purl.obolibrary.org/obo/HP_0006391	Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.
HP:0006392	Increased density of long bones	biolink:PhenotypicFeature	hp	UMLS:C1849307		Increased density of long bones	http://purl.obolibrary.org/obo/HP_0006392	An abnormal increase in the bone density of the long bones.
HP:0006394	Limited pronation/supination of forearm	biolink:PhenotypicFeature	hp	UMLS:C1861331	hposlim_core	Limited pronation/supination of forearm	http://purl.obolibrary.org/obo/HP_0006394	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	biolink:PhenotypicFeature	hp	UMLS:C1860156			http://purl.obolibrary.org/obo/HP_0006397	
HP:0006398	Flat distal femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4021599		Flat end part of outermost thighbone|Flattened distal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0006398	An abnormal flattening of the distal epiphysis of femur.
HP:0006400	Absent knee epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1859462		Absent knee end part	http://purl.obolibrary.org/obo/HP_0006400	
HP:0006402	Distal shortening of limbs	biolink:PhenotypicFeature	hp	UMLS:C1840307		Short outer part of limbs	http://purl.obolibrary.org/obo/HP_0006402	
HP:0006406	Club-shaped proximal femur	biolink:PhenotypicFeature	hp	UMLS:C1968611		Club-shaped innermost end of thighbone	http://purl.obolibrary.org/obo/HP_0006406	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	biolink:PhenotypicFeature	hp	UMLS:C4025050		Irregular outermost thighbone end part	http://purl.obolibrary.org/obo/HP_0006407	Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.
HP:0006408	Distal tapering femur	biolink:PhenotypicFeature	hp	UMLS:C4025049		Tapering of outermost end of thighbone	http://purl.obolibrary.org/obo/HP_0006408	
HP:0006409	Progressive leg bowing	biolink:PhenotypicFeature	hp	UMLS:C1855191			http://purl.obolibrary.org/obo/HP_0006409	Progressive bending or abnormal curvature of the leg.
HP:0006413	Broad tibial metaphyses	biolink:PhenotypicFeature	hp	UMLS:C2678328		Broad wide portion of shankbone|Broad wide portion of shinbone	http://purl.obolibrary.org/obo/HP_0006413	
HP:0006414	Distal tibial bowing	biolink:PhenotypicFeature	hp	UMLS:C4021598		Bowing of the distal tibia|Tibial bowing at ankle	http://purl.obolibrary.org/obo/HP_0006414	A bending or abnormal curvature of the distal portion of the tibia.
HP:0006415	Cortically dense long tubular bones	biolink:PhenotypicFeature	hp	UMLS:C1849276			http://purl.obolibrary.org/obo/HP_0006415	Increased density of the compact bone of long bone.
HP:0006417	Broad femoral metaphyses	biolink:PhenotypicFeature	hp	UMLS:C1864854		Broad wide portion of thigh bone	http://purl.obolibrary.org/obo/HP_0006417	
HP:0006420	Asymmetric radial dysplasia	biolink:PhenotypicFeature	hp	UMLS:C1969396			http://purl.obolibrary.org/obo/HP_0006420	The presence of asymmetric developmental dysplasia of the radius.
HP:0006423	Peg-like central prominence of distal tibial metaphyses	biolink:PhenotypicFeature	hp	UMLS:C1846160			http://purl.obolibrary.org/obo/HP_0006423	
HP:0006424	Elongated radius	biolink:PhenotypicFeature	hp	UMLS:C4025048			http://purl.obolibrary.org/obo/HP_0006424	Increased length of the radius.
HP:0006426	Rudimentary to absent tibiae	biolink:PhenotypicFeature	hp	UMLS:C1968943			http://purl.obolibrary.org/obo/HP_0006426	
HP:0006429	Broad femoral neck	biolink:PhenotypicFeature	hp	UMLS:C1849016		Broadening of femoral neck|Wide femoral neck|Wide neck of thigh bone|Widened femoral necks	http://purl.obolibrary.org/obo/HP_0006429	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	biolink:PhenotypicFeature	hp	UMLS:C4025047		Abnormal wide portion of innermost thighbone	http://purl.obolibrary.org/obo/HP_0006431	An anomaly of the metaphysis of the proximal femur (close to the hip).
HP:0006432	Trapezoidal distal femoral condyles	biolink:PhenotypicFeature	hp	UMLS:C1843983			http://purl.obolibrary.org/obo/HP_0006432	
HP:0006433	Radial dysplasia	biolink:PhenotypicFeature	hp	UMLS:C4025046		Dysplastic radii|Radial longitudinal deficiency	http://purl.obolibrary.org/obo/HP_0006433	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	biolink:PhenotypicFeature	hp	UMLS:C1859477		Proximal radial shortening	http://purl.obolibrary.org/obo/HP_0006434	Proximal radial shortening owing to a congenital defect of development.
HP:0006436	obsolete Shortening of the tibia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0006436	
HP:0006437	Disproportionate prominence of the femoral medial condyle	biolink:PhenotypicFeature	hp	UMLS:C1834392			http://purl.obolibrary.org/obo/HP_0006437	
HP:0006438	Enlargement of the distal femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1843105		Enlargement of the outermost thighbone end part|Large distal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0006438	An abnormal enlargement of the distal epiphysis of the femur.
HP:0006439	Radioulnar dislocation	biolink:PhenotypicFeature	hp	UMLS:C2673394		Dislocated radioulnar joints	http://purl.obolibrary.org/obo/HP_0006439	
HP:0006440	Increased density of long bone diaphyses	biolink:PhenotypicFeature	hp	UMLS:C1844516		Increased density of shaft of long bone	http://purl.obolibrary.org/obo/HP_0006440	
HP:0006441	Lateral humeral condyle aplasia	biolink:PhenotypicFeature	hp	UMLS:C1833878			http://purl.obolibrary.org/obo/HP_0006441	
HP:0006442	Hypoplasia of proximal fibula	biolink:PhenotypicFeature	hp	UMLS:C1859478		Small innermost upper end of calf bone|Underdeveloped innermost upper end of calf bone	http://purl.obolibrary.org/obo/HP_0006442	Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.
HP:0006443	Patellar aplasia	biolink:PhenotypicFeature	hp	UMLS:C1868578	hposlim_core	Absent kneecap|Absent patella|Absent patellae|Absent patellas|Aplastic patellae	http://purl.obolibrary.org/obo/HP_0006443	Absence of the patella.
HP:0006446	Dysplastic patella	biolink:PhenotypicFeature	hp	UMLS:C1849580			http://purl.obolibrary.org/obo/HP_0006446	
HP:0006449	Distal radial epiphyseal osteolysis	biolink:PhenotypicFeature	hp	UMLS:C1850145			http://purl.obolibrary.org/obo/HP_0006449	
HP:0006450	Multicentric ossification of proximal femoral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1857193			http://purl.obolibrary.org/obo/HP_0006450	
HP:0006453	Lateral displacement of the femoral head	biolink:PhenotypicFeature	hp	UMLS:C1855758		Laterally displaced femoral heads	http://purl.obolibrary.org/obo/HP_0006453	A developmental anomaly with lateral displacement of the femoral head.
HP:0006454	Delayed patellar ossification	biolink:PhenotypicFeature	hp	UMLS:C4021597|UMLS:C4280446		Delayed bone maturation of the knee cap|Delayed patellae ossification	http://purl.obolibrary.org/obo/HP_0006454	Formation of bone in the patella later than normal.
HP:0006456	Irregular proximal tibial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025045		Irregular innermost shankbone end part|Irregular innermost shinbone end part	http://purl.obolibrary.org/obo/HP_0006456	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	biolink:PhenotypicFeature	hp	UMLS:C1851988			http://purl.obolibrary.org/obo/HP_0006459	Partial dislocation of the ulna in the dorsal direction.
HP:0006460	Increased laxity of ankles	biolink:PhenotypicFeature	hp	UMLS:C1850854			http://purl.obolibrary.org/obo/HP_0006460	
HP:0006461	Proximal femoral epiphysiolysis	biolink:PhenotypicFeature	hp	MSH:D060048|UMLS:C0149887		Slipped end part of innermost thighbone|Slipped capilal femoral epiphysis|Slipped capital femoral epiphyses	http://purl.obolibrary.org/obo/HP_0006461	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	biolink:PhenotypicFeature	hp	UMLS:C1833326		Generalised bone demineralization	http://purl.obolibrary.org/obo/HP_0006462	A generalized decrease in bone mineral density.
HP:0006463	Rickets of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C1833323			http://purl.obolibrary.org/obo/HP_0006463	
HP:0006465	Periosteal thickening of long tubular bones	biolink:PhenotypicFeature	hp	UMLS:C1834345			http://purl.obolibrary.org/obo/HP_0006465	Thickening of the periosteum of long bone.
HP:0006466	Ankle flexion contracture	biolink:PhenotypicFeature	hp	UMLS:C1837407		Ankle contracture|Ankle contractures|Contractures of the ankles	http://purl.obolibrary.org/obo/HP_0006466	A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
HP:0006467	Limited shoulder movement	biolink:PhenotypicFeature	hp	UMLS:C1851313	hposlim_core	Limited shoulder movement	http://purl.obolibrary.org/obo/HP_0006467	A limitation of the range of movement of the shoulder joint.
HP:0006470	Thin long bone diaphyses	biolink:PhenotypicFeature	hp	UMLS:C1859449		Thin shaft of long bone|Thin diaphyses of long bones	http://purl.obolibrary.org/obo/HP_0006470	Decreased width of the diaphysis of long bones.
HP:0006471	Fixed elbow flexion	biolink:PhenotypicFeature	hp	UMLS:C4025044			http://purl.obolibrary.org/obo/HP_0006471	
HP:0006473	Anterior bowing of long bones	biolink:PhenotypicFeature	hp	UMLS:C1850644			http://purl.obolibrary.org/obo/HP_0006473	An abnormal anterior curvature of a long bone.
HP:0006476	Abnormality of the pancreatic islet cells	biolink:PhenotypicFeature	hp	UMLS:C4025043			http://purl.obolibrary.org/obo/HP_0006476	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235013007|UMLS:C0341007|UMLS:C4280445		Abnormality of gum ridge|Abnormality of alveolar margin|Abnormality of dentoalveolar ridges|Defect in alveolar ridge|Abnormality of alveolar processes of jaw	http://purl.obolibrary.org/obo/HP_0006477	Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.
HP:0006479	Abnormality of the dental pulp	biolink:PhenotypicFeature	hp	UMLS:C4025042		Abnormality of tooth pulp|Endodontic abnormality	http://purl.obolibrary.org/obo/HP_0006479	An abnormality of the dental pulp.
HP:0006480	Premature loss of teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:234974002|SNOMEDCT_US:42756003|UMLS:C0232513|UMLS:C0399385	hposlim_core	Early tooth loss|Loss of teeth|Premature teeth loss|Premature tooth loss|Premature exfoliation of teeth	http://purl.obolibrary.org/obo/HP_0006480	Premature loss of teeth not related to trauma or neglect.
HP:0006481	Abnormality of primary teeth	biolink:PhenotypicFeature	hp	UMLS:C4021596		Abnormality of baby teeth|Abnormality of milk teeth|Abnormality of deciduous teeth	http://purl.obolibrary.org/obo/HP_0006481	Any abnormality of the primary tooth.
HP:0006482	Abnormality of dental morphology	biolink:PhenotypicFeature	hp	MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444	hposlim_core	Abnormality of dental shape|Abnormally shaped teeth|Deformity of teeth|Dental deformity|Dental malformations|Malformed teeth|Misshapen teeth|Misshapened teeth|Abnormality of shape of tooth|Malformation of teeth	http://purl.obolibrary.org/obo/HP_0006482	An abnormality of the morphology of the tooth.
HP:0006483	Abnormal number of teeth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:335443002|UMLS:C1290508		Abnormal number of teeth|Abnormal tooth count|Abnormal complement of teeth	http://purl.obolibrary.org/obo/HP_0006483	The presence of an altered number of of teeth.
HP:0006485	Agenesis of incisor	biolink:PhenotypicFeature	hp	UMLS:C4020815|UMLS:C4020816|UMLS:C4083290		Absence of front tooth|Absence of incisors|Missing front tooth|Missing incisors|Failure of development of incisor	http://purl.obolibrary.org/obo/HP_0006485	Agenesis of incisor.
HP:0006486	Abnormality of the dental root	biolink:PhenotypicFeature	hp	UMLS:C4025041		Abnormality of the dental root|Abnormality of tooth root	http://purl.obolibrary.org/obo/HP_0006486	An abnormality of the dental root.
HP:0006487	Bowing of the long bones	biolink:PhenotypicFeature	hp	UMLS:C1855340		Bowed long bones|Bowing of long bones|Bowing of the long bones|Camptomelia|Diaphyseal bowing|Diaphyseal bowing of long bones	http://purl.obolibrary.org/obo/HP_0006487	A bending or abnormal curvature of a long bone.
HP:0006488	Bowing of the arm	biolink:PhenotypicFeature	hp	UMLS:C0426863		Bending of the arm|Bowing of the arm	http://purl.obolibrary.org/obo/HP_0006488	A bending or abnormal curvature affecting a long bone of the arm.
HP:0006489	Abnormality of the femoral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025040|UMLS:C4280444		Abnormality of the wide portion of the femoral bone	http://purl.obolibrary.org/obo/HP_0006489	An anomaly of the femoral metaphysis.
HP:0006490	Abnormality of lower-limb metaphyses	biolink:PhenotypicFeature	hp	UMLS:C4025039		Abnormality of the wide portion of the lower-limb bone	http://purl.obolibrary.org/obo/HP_0006490	
HP:0006491	Abnormality of the tibial metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4025038		Abnormality of the wide portion of shankbone|Abnormality of the wide portion of shinbone	http://purl.obolibrary.org/obo/HP_0006491	
HP:0006492	Aplasia/Hypoplasia of the fibula	biolink:PhenotypicFeature	hp	UMLS:C1856732		Absent/small calf bone|Absent/underdeveloped calf bone|Fibular aplasia/hypoplasia|Hypoplastic/aplastic fibulae	http://purl.obolibrary.org/obo/HP_0006492	Absence or underdevelopment of the fibula.
HP:0006493	Aplasia/hypoplasia involving bones of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4025037		Absent/small lower limb bones|Absent/underdeveloped lower limb bones	http://purl.obolibrary.org/obo/HP_0006493	Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.
HP:0006494	Aplasia/Hypoplasia involving bones of the feet	biolink:PhenotypicFeature	hp	UMLS:C4025036		Absent/small foot bones|Absent/underdeveloped foot bones	http://purl.obolibrary.org/obo/HP_0006494	
HP:0006495	Aplasia/Hypoplasia of the ulna	biolink:PhenotypicFeature	hp	UMLS:C1865571		Absence/underdevelopment of inner forearm bone|Absent-hypoplastic ulnae|Absent/small ulna|Hypoplasia or unilateral/bilateral absence of ulna|ulnar hypoplasia/aplasia	http://purl.obolibrary.org/obo/HP_0006495	Absence or underdevelopment of the ulna.
HP:0006496	Aplasia/hypoplasia involving bones of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4025035		Absent/small bones of the upper limbs|Absent/underdeveloped bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0006496	Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.
HP:0006498	Aplasia/Hypoplasia of the patella	biolink:PhenotypicFeature	hp	MSH:C535568|UMLS:C1868577		Absent/small kneecap|Absent/underdeveloped kneecap|Absent or hypoplastic patellae|Absent/hypoplastic patella|Aplastic or hypoplastic patellae|Hypoplastic or absent patella|Patellar aplasia/hypoplasia|Small to absent patellae	http://purl.obolibrary.org/obo/HP_0006498	Absence or underdevelopment of the patella.
HP:0006499	Abnormality of femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4025034		Abnormality of thighbone end part	http://purl.obolibrary.org/obo/HP_0006499	An anomaly of a growth plate of a femur.
HP:0006500	Abnormality of lower limb epiphysis morphology	biolink:PhenotypicFeature	hp	UMLS:C4021595		Abnormal shape of end part of lower limb end bone|Abnormality involving the epiphyses of the lower limbs	http://purl.obolibrary.org/obo/HP_0006500	An anomaly of one or more epiphyses of one or both legs.
HP:0006501	Aplasia/Hypoplasia of the radius	biolink:PhenotypicFeature	hp	UMLS:C2749463		Absence or underdevelopment of the radius bone of the arm|Absent/small radius|Absent/underdeveloped radius|Radial aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0006501	A small/hypoplastic or absent/aplastic radius.
HP:0006502	Aplasia/Hypoplasia involving the carpal bones	biolink:PhenotypicFeature	hp	UMLS:C4025033		Absent/small wrist bones|Absent/underdeveloped wrist bones	http://purl.obolibrary.org/obo/HP_0006502	Absence or underdevelopment of the carpal bones.
HP:0006503	Aplasia/hypoplasia involving forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4025032		Absent/small forearm bones|Absent/underdeveloped forearm bones	http://purl.obolibrary.org/obo/HP_0006503	Absence (due to failure to form) or underdevelopment of one or more forearm bones.
HP:0006504	obsolete Anomaly of the limb diaphyses morphology	biolink:PhenotypicFeature	hp			Abnormality of shaft of long bone of the limbs	http://purl.obolibrary.org/obo/HP_0006504	
HP:0006505	Abnormality of limb epiphysis morphology	biolink:PhenotypicFeature	hp	UMLS:C4021593		Abnormal shape of end part of limb bones|Abnormality involving the epiphyses of the limbs	http://purl.obolibrary.org/obo/HP_0006505	An anomaly of one or more epiphyses of a limb.
HP:0006507	Aplasia/hypoplasia of the humerus	biolink:PhenotypicFeature	hp	UMLS:C4025031		Absent/small long bone in upper arm|Absent/underdeveloped long bone in upper arm	http://purl.obolibrary.org/obo/HP_0006507	Absence (due to failure to form) or underdevelopment of the humerus.
HP:0006508	Abnormality of tibial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4025030		Abnormality of end part of shinbone	http://purl.obolibrary.org/obo/HP_0006508	
HP:0006509	Diverticulosis of trachea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14011008|UMLS:C0340213		Tracheal diverticulosis|Tracheal diverticulum|Tracheocele|Paratracheal air cyst	http://purl.obolibrary.org/obo/HP_0006509	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	biolink:PhenotypicFeature	hp	MSH:D029424|SNOMEDCT_US:13645005|UMLS:C0024117		COPD|Chronic obstructive pulmonary disease	http://purl.obolibrary.org/obo/HP_0006510	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	biolink:PhenotypicFeature	hp	MSH:D007826|SNOMEDCT_US:406444002|SNOMEDCT_US:41432000|SNOMEDCT_US:53787002|UMLS:C0023066		Laryngeal stidor	http://purl.obolibrary.org/obo/HP_0006511	An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.
HP:0006514	Intraalveolar nodular calcifications	biolink:PhenotypicFeature	hp	UMLS:C4025028			http://purl.obolibrary.org/obo/HP_0006514	
HP:0006515	Interstitial pneumonitis	biolink:PhenotypicFeature	hp	MSH:D017563|SNOMEDCT_US:64667001|UMLS:C0206061			http://purl.obolibrary.org/obo/HP_0006515	
HP:0006516	Hypersensitivity pneumonitis	biolink:PhenotypicFeature	hp	MSH:D000542|SNOMEDCT_US:37471005|UMLS:C0002390			http://purl.obolibrary.org/obo/HP_0006516	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	biolink:PhenotypicFeature	hp	MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050		Alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage|Pulmonary alveolar proteinosis	http://purl.obolibrary.org/obo/HP_0006517	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	biolink:PhenotypicFeature	hp	Fyler:3002|MSH:D011668|SNOMEDCT_US:89420002|UMLS:C0034091|UMLS:C4280802		Pulmonary venous occlusion|Pulmonary venous stenosis|Pulmonary venoocclusive disease	http://purl.obolibrary.org/obo/HP_0006518	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	biolink:PhenotypicFeature	hp	MSH:D002282|SNOMEDCT_US:112677002|SNOMEDCT_US:36310008|SNOMEDCT_US:373627005|UMLS:C0007120			http://purl.obolibrary.org/obo/HP_0006519	Adenocarcinoma of the Bronchus.
HP:0006520	Progressive pulmonary function impairment	biolink:PhenotypicFeature	hp	UMLS:C1849570			http://purl.obolibrary.org/obo/HP_0006520	
HP:0006521	Pulmonary lymphangiectasia	biolink:PhenotypicFeature	hp	UMLS:C1855480		Pulmonary lymphangiectasis	http://purl.obolibrary.org/obo/HP_0006521	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	biolink:PhenotypicFeature	hp	UMLS:C4025027		Repeated pneumothorax	http://purl.obolibrary.org/obo/HP_0006522	
HP:0006524	Tracheobronchial leiomyomatosis	biolink:PhenotypicFeature	hp	UMLS:C3806786			http://purl.obolibrary.org/obo/HP_0006524	
HP:0006525	obsolete Lung segmentation defects	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0006525	
HP:0006527	Lymphocytic interstitial pneumonia	biolink:PhenotypicFeature	hp	MSH:C562489|SNOMEDCT_US:44274007|UMLS:C0264511		Lymphocytic interstitial pneumonitis|Lymphoid interstitial pneumonia|Lymphoid interstitial pneumonitis	http://purl.obolibrary.org/obo/HP_0006527	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:413839001|UMLS:C0746102		Chronic lung disease	http://purl.obolibrary.org/obo/HP_0006528	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	biolink:PhenotypicFeature	hp	UMLS:C4025026			http://purl.obolibrary.org/obo/HP_0006529	An abnormality of the pulmonary lymphatic chain.
HP:0006530	Abnormal pulmonary Interstitial morphology	biolink:PhenotypicFeature	hp	MSH:D017563|SNOMEDCT_US:233703007|UMLS:C0206062		Abnormality in area between air sacs in lung|Abnormal lung parenchyma morphology|Interstitial lung disease|Interstitial pulmonary disease	http://purl.obolibrary.org/obo/HP_0006530	Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
HP:0006531	Pleural lymphangiectasia	biolink:PhenotypicFeature	hp	UMLS:C1856139			http://purl.obolibrary.org/obo/HP_0006531	
HP:0006532	Recurrent pneumonia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128601007|SNOMEDCT_US:699014000|UMLS:C0694550|UMLS:C0748140|UMLS:C0876973|UMLS:C1859117		Recurrent pneumonia|Multiple pulmonary infections|Pneumonia, recurrent|Pneumonia, recurrent episodes|Pulmonary infection|Pulmonary infections|Recurrent pulmonary infections|pulmonary infections, recurrent	http://purl.obolibrary.org/obo/HP_0006532	An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
HP:0006533	Bronchodysplasia	biolink:PhenotypicFeature	hp	UMLS:C4025025			http://purl.obolibrary.org/obo/HP_0006533	
HP:0006535	Recurrent intrapulmonary hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C3805919		Recurrent bleeding into lungs|Recurrent intrapulmonary haemorrhage|Recurrent pulmonary hemorrhage	http://purl.obolibrary.org/obo/HP_0006535	A recurrent hemorrhage occurring within the lung.
HP:0006536	Airway obstruction	biolink:PhenotypicFeature	hp	MSH:D008173|UMLS:C0600260		Obstructive lung disease|Pulmonary obstruction	http://purl.obolibrary.org/obo/HP_0006536	Obstruction of conducting airways of the lung.
HP:0006538	Recurrent bronchopulmonary infections	biolink:PhenotypicFeature	hp	UMLS:C2169795		Recurrent infections in bronchi and lungs	http://purl.obolibrary.org/obo/HP_0006538	An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
HP:0006539	Bronchial cartilage hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4025024		Underdevelopment of the bronical cartilage	http://purl.obolibrary.org/obo/HP_0006539	
HP:0006541	obsolete Chronic obstructive airway disease from birth	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0006541	
HP:0006543	Cardiorespiratory arrest	biolink:PhenotypicFeature	hp	MSH:D006323|SNOMEDCT_US:410430005|UMLS:C0600228			http://purl.obolibrary.org/obo/HP_0006543	
HP:0006544	Extrapulmonary sequestrum	biolink:PhenotypicFeature	hp	UMLS:C4020814|UMLS:C4025023		Diaphragmatic sequestrum	http://purl.obolibrary.org/obo/HP_0006544	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	biolink:PhenotypicFeature	hp	Fyler:2210|UMLS:C1857690		Pulmonary AV malformation	http://purl.obolibrary.org/obo/HP_0006548	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	biolink:PhenotypicFeature	hp	UMLS:C4021592		Primary pulmonary dysgenesis, unilateral	http://purl.obolibrary.org/obo/HP_0006549	
HP:0006552	Fibrocystic lung disease	biolink:PhenotypicFeature	hp	UMLS:C1397290			http://purl.obolibrary.org/obo/HP_0006552	
HP:0006554	Acute hepatic failure	biolink:PhenotypicFeature	hp	MSH:D017114|SNOMEDCT_US:197270009|SNOMEDCT_US:235884008|UMLS:C0162557		Acute liver failure	http://purl.obolibrary.org/obo/HP_0006554	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	biolink:PhenotypicFeature	hp	UMLS:C1849686		Hepatic steatosis, diffuse	http://purl.obolibrary.org/obo/HP_0006555	A diffuse form of hepatic steatosis.
HP:0006557	Polycystic liver disease	biolink:PhenotypicFeature	hp	MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683			http://purl.obolibrary.org/obo/HP_0006557	
HP:0006558	Decreased mitochondrial complex III activity in liver tissue	biolink:PhenotypicFeature	hp	UMLS:C4025022			http://purl.obolibrary.org/obo/HP_0006558	Decreased activity of complex III of the mitochondrion in the liver.
HP:0006559	Hepatic calcification	biolink:PhenotypicFeature	hp	UMLS:C1696466		Liver calcifications	http://purl.obolibrary.org/obo/HP_0006559	The presence of abnormal calcium deposition in the liver.
HP:0006560	Biliary hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C3672440|UMLS:C3686778		Bile duct hyperplasia	http://purl.obolibrary.org/obo/HP_0006560	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	biolink:PhenotypicFeature	hp	UMLS:C1837257			http://purl.obolibrary.org/obo/HP_0006561	
HP:0006562	Viral hepatitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3738000|UMLS:C0042721			http://purl.obolibrary.org/obo/HP_0006562	Inflammation of the liver due to infection with a virus.
HP:0006563	Malformation of the hepatic ductal plate	biolink:PhenotypicFeature	hp	UMLS:C1857519			http://purl.obolibrary.org/obo/HP_0006563	
HP:0006564	Fluctuating hepatomegaly	biolink:PhenotypicFeature	hp	UMLS:C1835881			http://purl.obolibrary.org/obo/HP_0006564	Intermittently increased size of the liver.
HP:0006565	Increased hepatocellular lipid droplets	biolink:PhenotypicFeature	hp	UMLS:C4025021			http://purl.obolibrary.org/obo/HP_0006565	An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.
HP:0006566	Neonatal cholestatic liver disease	biolink:PhenotypicFeature	hp	UMLS:C1859162			http://purl.obolibrary.org/obo/HP_0006566	
HP:0006568	Increased hepatic glycogen content	biolink:PhenotypicFeature	hp	UMLS:C1856285		Increased liver glycogen content	http://purl.obolibrary.org/obo/HP_0006568	An increase in the amount of glycogen stored in hepatocytes compared to normal.
HP:0006571	Reduced number of intrahepatic bile ducts	biolink:PhenotypicFeature	hp	UMLS:C1861621|UMLS:C4021591		Hepatic ductopenia|Intrahepatic duct deficiency	http://purl.obolibrary.org/obo/HP_0006571	The presence of reduced numbers of intrahepatic bile duct than normal.
HP:0006572	Subacute progressive viral hepatitis	biolink:PhenotypicFeature	hp	UMLS:C1861901			http://purl.obolibrary.org/obo/HP_0006572	
HP:0006573	Acute hepatic steatosis	biolink:PhenotypicFeature	hp	UMLS:C4025020		Acute fatty liver	http://purl.obolibrary.org/obo/HP_0006573	An acute form of hepatic steatosis.
HP:0006574	Hepatic arteriovenous malformation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:84150000|UMLS:C0520557		Liver arteriovenous malformation	http://purl.obolibrary.org/obo/HP_0006574	
HP:0006575	Intrahepatic cholestasis with episodic jaundice	biolink:PhenotypicFeature	hp	UMLS:C4025019			http://purl.obolibrary.org/obo/HP_0006575	
HP:0006576	Hepatic vascular malformations	biolink:PhenotypicFeature	hp	UMLS:C1861790		Liver vascular malformations	http://purl.obolibrary.org/obo/HP_0006576	
HP:0006577	Macronodular cirrhosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43904005|SNOMEDCT_US:86454000|UMLS:C2004456			http://purl.obolibrary.org/obo/HP_0006577	A type of cirrhosis characterized by the presence of large regenerative nodules.
HP:0006579	Prolonged neonatal jaundice	biolink:PhenotypicFeature	hp	MSH:D007567|SNOMEDCT_US:387712008|UMLS:C0022353|UMLS:C1859236		Prolonged yellowing of skin in newborn|Neonatal jaundice|Jaundice, neonatal	http://purl.obolibrary.org/obo/HP_0006579	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	biolink:PhenotypicFeature	hp	UMLS:C2677002|UMLS:C3805083		Portal fibrosis shown on biopsy	http://purl.obolibrary.org/obo/HP_0006580	Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
HP:0006581	Depletion of mitochondrial DNA in liver	biolink:PhenotypicFeature	hp	UMLS:C4025018			http://purl.obolibrary.org/obo/HP_0006581	An abnormal reduction in the number of mitochondria in hepatocytes.
HP:0006582	Reye syndrome-like episodes	biolink:PhenotypicFeature	hp	UMLS:C1850413			http://purl.obolibrary.org/obo/HP_0006582	Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.
HP:0006583	Fatal liver failure in infancy	biolink:PhenotypicFeature	hp	UMLS:C4025017		Fatal liver failure in infancy	http://purl.obolibrary.org/obo/HP_0006583	
HP:0006584	Small abnormally formed scapulae	biolink:PhenotypicFeature	hp	UMLS:C1861226		Small abnormally formed shoulder blade|Small abnormally formed scapula	http://purl.obolibrary.org/obo/HP_0006584	
HP:0006585	Congenital pseudoarthrosis of the clavicle	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249685004|SNOMEDCT_US:249690001|UMLS:C0426806|UMLS:C0426811		Clavicle pseudoarthrosis|Pseudoarthrosis of clavicle|Bipartite clavicle	http://purl.obolibrary.org/obo/HP_0006585	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	biolink:PhenotypicFeature	hp	UMLS:C4025016		Straight collarbone	http://purl.obolibrary.org/obo/HP_0006587	An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .
HP:0006589	Flaring of lower rib cage	biolink:PhenotypicFeature	hp	UMLS:C1855196		Flaring of lower rib cage	http://purl.obolibrary.org/obo/HP_0006589	
HP:0006590	Premature sternal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4021590		Prematurely closed sternal sutures	http://purl.obolibrary.org/obo/HP_0006590	Prematurely closed sternal sutures.
HP:0006591	Absent glenoid fossa	biolink:PhenotypicFeature	hp	UMLS:C4021589		Aplasia of the glenoid fossa	http://purl.obolibrary.org/obo/HP_0006591	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	biolink:PhenotypicFeature	hp	UMLS:C1861704			http://purl.obolibrary.org/obo/HP_0006593	
HP:0006595	Scapulohumeral synostosis	biolink:PhenotypicFeature	hp	UMLS:C1865362		Fusion of shoulder blade to long bone in upper arm|Humero-scapulo synostosis|Humeroscapular synostosis|Synostosis of shoulder joint	http://purl.obolibrary.org/obo/HP_0006595	Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.
HP:0006596	Restricted chest movement	biolink:PhenotypicFeature	hp	UMLS:C4025015		Restricted chest movement	http://purl.obolibrary.org/obo/HP_0006596	
HP:0006597	Diaphragmatic paralysis	biolink:PhenotypicFeature	hp	MSH:D012133|SNOMEDCT_US:64228003|UMLS:C0035232		Diaphragmatic paralysis|Paralyzed diaphragm	http://purl.obolibrary.org/obo/HP_0006597	The presence of a paralyzed diaphragm.
HP:0006598	Irregular ossification at anterior rib ends	biolink:PhenotypicFeature	hp	UMLS:C1850083			http://purl.obolibrary.org/obo/HP_0006598	
HP:0006599	Medial widening of clavicles	biolink:PhenotypicFeature	hp	UMLS:C1866729			http://purl.obolibrary.org/obo/HP_0006599	
HP:0006600	Progressive calcification of costochondral cartilage	biolink:PhenotypicFeature	hp	UMLS:C1968577			http://purl.obolibrary.org/obo/HP_0006600	
HP:0006603	Flared, irregular rib ends	biolink:PhenotypicFeature	hp	UMLS:C1865833		Flared, irregular rib ends	http://purl.obolibrary.org/obo/HP_0006603	
HP:0006606	Irregular chondrocostal junctions	biolink:PhenotypicFeature	hp	UMLS:C1861199		Irregular costochondral margins	http://purl.obolibrary.org/obo/HP_0006606	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	biolink:PhenotypicFeature	hp	UMLS:C1849049			http://purl.obolibrary.org/obo/HP_0006607	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	biolink:PhenotypicFeature	hp	UMLS:C1844530		Underdeveloped middle portion of the collarbone	http://purl.obolibrary.org/obo/HP_0006608	Underdevelopment of the middle portion of the clavicle.
HP:0006610	Wide intermamillary distance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:423230008|UMLS:C1827524	hposlim_core	Wide-spaced nipples|Widely spaced nipples|Widely-spaced nipples	http://purl.obolibrary.org/obo/HP_0006610	A larger than usual distance between the left and right nipple.
HP:0006611	Decreased number of sternal ossification centers	biolink:PhenotypicFeature	hp	UMLS:C1856223		Decreased number of sternal ossification centres	http://purl.obolibrary.org/obo/HP_0006611	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	biolink:PhenotypicFeature	hp	UMLS:C1842695		Absent rib calcification in utero	http://purl.obolibrary.org/obo/HP_0006615	Lack of formation and mineralization of the ribs in utero.
HP:0006619	Anterior rib punctate calcifications	biolink:PhenotypicFeature	hp	UMLS:C1859120			http://purl.obolibrary.org/obo/HP_0006619	Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.
HP:0006623	Costochondral joint sclerosis	biolink:PhenotypicFeature	hp	UMLS:C4021588		Sclerotic costochondral joints	http://purl.obolibrary.org/obo/HP_0006623	Abnormal increase in density of the tissue at the costochondral junctions.
HP:0006625	Multifocal breast carcinoma	biolink:PhenotypicFeature	hp	UMLS:C2986662		Multifocal breast cancer	http://purl.obolibrary.org/obo/HP_0006625	Breast carcinoma that is bilateral or otherwise multifocal.
HP:0006628	Absent sternal ossification	biolink:PhenotypicFeature	hp	UMLS:C1857074|UMLS:C4280443		Absent bone maturation in sternum|Absent sternal mineralization|Lack of sternal ossification	http://purl.obolibrary.org/obo/HP_0006628	Lack of formation of mineralized bony tissue of the sternum.
HP:0006631	Hypoplastic distal segments of scapulae	biolink:PhenotypicFeature	hp	UMLS:C4025014		Small distal segments of the shoulder blade|Underdeveloped outermost segments of shoulder blade|Small outermost segments of shoulder blade	http://purl.obolibrary.org/obo/HP_0006631	
HP:0006633	Glenoid fossa hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1834384	hposlim_core	Glenoid hypoplasia|Hypoplastic glenoid fossa	http://purl.obolibrary.org/obo/HP_0006633	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	biolink:PhenotypicFeature	hp	UMLS:C4025013		Increased bone density in ribs	http://purl.obolibrary.org/obo/HP_0006634	Osteosclerosis of ribs (increased density related to increased bone mass).
HP:0006637	Sternal punctate calcifications	biolink:PhenotypicFeature	hp	UMLS:C1859121			http://purl.obolibrary.org/obo/HP_0006637	
HP:0006638	Midclavicular aplasia	biolink:PhenotypicFeature	hp	UMLS:C1844529		Missing middle part of collarbone	http://purl.obolibrary.org/obo/HP_0006638	Developmental defect resulting in congenital absence of the middle portion of the clavicle.
HP:0006640	Multiple rib fractures	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1261007|UMLS:C0272567		Multiple rib fractures	http://purl.obolibrary.org/obo/HP_0006640	More than one fracture of the ribs.
HP:0006641	Prominent floating ribs	biolink:PhenotypicFeature	hp	UMLS:C4025012		Prominent floating ribs	http://purl.obolibrary.org/obo/HP_0006641	
HP:0006642	Large sternal ossification centers	biolink:PhenotypicFeature	hp	UMLS:C1865241		Large sternal ossification centres	http://purl.obolibrary.org/obo/HP_0006642	
HP:0006643	Fused sternal ossification centers	biolink:PhenotypicFeature	hp	UMLS:C1859376		Fused sternal ossification centres	http://purl.obolibrary.org/obo/HP_0006643	
HP:0006644	Thoracic dysplasia	biolink:PhenotypicFeature	hp	UMLS:C1406921			http://purl.obolibrary.org/obo/HP_0006644	
HP:0006645	Thin clavicles	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298764003|UMLS:C0575535		Thin collarbone	http://purl.obolibrary.org/obo/HP_0006645	Abnormally reduced diameter (cross section) of the clavicles.
HP:0006646	Costal cartilage calcification	biolink:PhenotypicFeature	hp	UMLS:C1855608		Cartilaginous ossification of rib	http://purl.obolibrary.org/obo/HP_0006646	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	biolink:PhenotypicFeature	hp	UMLS:C4025011			http://purl.obolibrary.org/obo/HP_0006647	
HP:0006649	Costochondral pain	biolink:PhenotypicFeature	hp	UMLS:C4021587		Costochondral junction pain	http://purl.obolibrary.org/obo/HP_0006649	Chest wall pain in the area of the costochondral junctions.
HP:0006650	Thickening of the lateral border of the scapula	biolink:PhenotypicFeature	hp	UMLS:C1834383		Thickening of the lateral border of the shoulder blade	http://purl.obolibrary.org/obo/HP_0006650	
HP:0006655	Rib segmentation abnormalities	biolink:PhenotypicFeature	hp	UMLS:C1968999			http://purl.obolibrary.org/obo/HP_0006655	
HP:0006657	Hypoplasia of first ribs	biolink:PhenotypicFeature	hp	UMLS:C1834386		Small first rib|Underdeveloped first rib|Hypoplastic first rib|Hypoplastic first ribs	http://purl.obolibrary.org/obo/HP_0006657	
HP:0006659	Internally rotated shoulders	biolink:PhenotypicFeature	hp	UMLS:C1862491		Internally rotated shoulders	http://purl.obolibrary.org/obo/HP_0006659	
HP:0006660	Aplastic clavicle	biolink:PhenotypicFeature	hp	UMLS:C1857665	hposlim_core	Absent collarbone|Aplastic clavicles|Absent clavicles	http://purl.obolibrary.org/obo/HP_0006660	Absence of the clavicles as a developmental defect.
HP:0006665	Coat hanger sign of ribs	biolink:PhenotypicFeature	hp	UMLS:C4025010		Coat hanger sign of ribs	http://purl.obolibrary.org/obo/HP_0006665	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	biolink:PhenotypicFeature	hp	UMLS:C1859361		Small twelfth rib|Underdeveloped twelfth rib	http://purl.obolibrary.org/obo/HP_0006668	
HP:0006670	Impaired myocardial contractility	biolink:PhenotypicFeature	hp	UMLS:C4025009			http://purl.obolibrary.org/obo/HP_0006670	
HP:0006671	Paroxysmal atrial tachycardia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195069001|UMLS:C0030587			http://purl.obolibrary.org/obo/HP_0006671	
HP:0006673	Reduced systolic function	biolink:PhenotypicFeature	hp	UMLS:C4025008			http://purl.obolibrary.org/obo/HP_0006673	
HP:0006677	Prolonged QRS complex	biolink:PhenotypicFeature	hp	SNOMEDCT_US:991002|UMLS:C0235475		Prolonged QRS complex on EKG	http://purl.obolibrary.org/obo/HP_0006677	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	biolink:PhenotypicFeature	hp	UMLS:C4025007			http://purl.obolibrary.org/obo/HP_0006679	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	biolink:PhenotypicFeature	hp	UMLS:C4025006			http://purl.obolibrary.org/obo/HP_0006681	
HP:0006682	Ventricular extrasystoles	biolink:PhenotypicFeature	hp	MSH:D018879|SNOMEDCT_US:17338001|SNOMEDCT_US:251175005|UMLS:C0151636		Extra heart beat|Missed heartbeat|Skipped heartbeat|Premature ventricular contractions	http://purl.obolibrary.org/obo/HP_0006682	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	biolink:PhenotypicFeature	hp	UMLS:C4025005			http://purl.obolibrary.org/obo/HP_0006683	An abnormality of filling of a ventricle with blood during diastole.
HP:0006684	Ventricular preexcitation with multiple accessory pathways	biolink:PhenotypicFeature	hp	UMLS:C4025004			http://purl.obolibrary.org/obo/HP_0006684	A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.
HP:0006685	Endocardial fibrosis	biolink:PhenotypicFeature	hp	MSH:D004719|SNOMEDCT_US:398716006|UMLS:C0553980		Endomyocardial fibrosis	http://purl.obolibrary.org/obo/HP_0006685	The presence of excessive connective tissue in the endocardium.
HP:0006687	Aortic tortuosity	biolink:PhenotypicFeature	hp	UMLS:C4025003			http://purl.obolibrary.org/obo/HP_0006687	Abnormal tortuous (i.e., twisted) form of the aorta.
HP:0006688	Paroxysmal tachycardia	biolink:PhenotypicFeature	hp	MSH:D013614|SNOMEDCT_US:12026006|UMLS:C0039236			http://purl.obolibrary.org/obo/HP_0006688	
HP:0006689	Bacterial endocarditis	biolink:PhenotypicFeature	hp	MSH:D004697|SNOMEDCT_US:301183007|UMLS:C0014121		Infective endocarditis	http://purl.obolibrary.org/obo/HP_0006689	A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.
HP:0006690	Myocardial calcification	biolink:PhenotypicFeature	hp	Fyler:1889|UMLS:C1096561		Calcified myocardium	http://purl.obolibrary.org/obo/HP_0006690	Calcium deposition in the myocardium.
HP:0006691	Pulmonic valve myxoma	biolink:PhenotypicFeature	hp	UMLS:C4025002			http://purl.obolibrary.org/obo/HP_0006691	
HP:0006692	Short chordae tendineae of the tricuspid valve	biolink:PhenotypicFeature	hp	UMLS:C4025001			http://purl.obolibrary.org/obo/HP_0006692	Abnormally short chordae tendineae of the tricuspid valve.
HP:0006693	Myocardial steatosis	biolink:PhenotypicFeature	hp	UMLS:C4025000			http://purl.obolibrary.org/obo/HP_0006693	Steatosis in the myocardium.
HP:0006694	Early progressive calcific cardiac valvular disease	biolink:PhenotypicFeature	hp	UMLS:C4024999			http://purl.obolibrary.org/obo/HP_0006694	
HP:0006695	Atrioventricular canal defect	biolink:PhenotypicFeature	hp	Fyler:0606|Fyler:1100|Fyler:606|MSH:C562831|MSH:D004694|SNOMEDCT_US:15459006|UMLS:C0014116|UMLS:C1389016		Hole in center of heart|Atrioventricular septal defect|Endocardial cushion defect	http://purl.obolibrary.org/obo/HP_0006695	A defect of the atrioventricular septum of the heart.
HP:0006696	Polymorphic and polytopic ventricular extrasystoles	biolink:PhenotypicFeature	hp	UMLS:C4024998			http://purl.obolibrary.org/obo/HP_0006696	
HP:0006698	Dilatation of the ventricular cavity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90539001|UMLS:C0392464		Ventricular aneurysm	http://purl.obolibrary.org/obo/HP_0006698	A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.
HP:0006699	Premature atrial contractions	biolink:PhenotypicFeature	hp	MSH:D018880|SNOMEDCT_US:284470004|SNOMEDCT_US:287057009|SNOMEDCT_US:406461004|SNOMEDCT_US:63593006|UMLS:C0033036		PACs|Atrial ectopic beats|Atrial premature complex|Ectopic supraventricular rhythms|Premature supraventricular beats	http://purl.obolibrary.org/obo/HP_0006699	A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.
HP:0006702	Coronary artery dissection	biolink:PhenotypicFeature	hp	MSH:C565153|UMLS:C1852540			http://purl.obolibrary.org/obo/HP_0006702	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	biolink:PhenotypicFeature	hp	UMLS:C4024996		Absent/small lungs|Absent/underdeveloped lungs	http://purl.obolibrary.org/obo/HP_0006703	
HP:0006704	Abnormal coronary artery morphology	biolink:PhenotypicFeature	hp	Fyler:3100|SNOMEDCT_US:28574005|UMLS:C0158623			http://purl.obolibrary.org/obo/HP_0006704	Any structural abnormality of the coronary arteries.
HP:0006705	Abnormal atrioventricular valve morphology	biolink:PhenotypicFeature	hp	UMLS:C4024995		Abnormality of the atrioventricular valves	http://purl.obolibrary.org/obo/HP_0006705	An abnormality of an atrioventricular valve.
HP:0006706	Cystic liver disease	biolink:PhenotypicFeature	hp	MSH:C536330|SNOMEDCT_US:72925005|UMLS:C0158683			http://purl.obolibrary.org/obo/HP_0006706	
HP:0006707	Abnormality of the hepatic vasculature	biolink:PhenotypicFeature	hp	UMLS:C4024994		Abnormality of liver blood vessels|Abnormality of the liver vasculature	http://purl.obolibrary.org/obo/HP_0006707	An abnormality of the hepatic vasculature.
HP:0006709	Aplasia/Hypoplasia of the nipples	biolink:PhenotypicFeature	hp	UMLS:C3150086		Absent/small nipples|Absent/underdeveloped nipples|Absent/rudimentary nipples|Nipples absent or rudimentary	http://purl.obolibrary.org/obo/HP_0006709	
HP:0006710	Aplasia/Hypoplasia of the clavicles	biolink:PhenotypicFeature	hp	UMLS:C4024993		Absent/small collarbone|Absent/underdeveloped collarbone	http://purl.obolibrary.org/obo/HP_0006710	Absence or underdevelopment of the clavicles (collar bones).
HP:0006711	Aplasia/Hypoplasia involving bones of the thorax	biolink:PhenotypicFeature	hp	UMLS:C4024992		Absent/small outermost thorax bone|Absent/underdeveloped thorax bone	http://purl.obolibrary.org/obo/HP_0006711	
HP:0006712	Aplasia/Hypoplasia of the ribs	biolink:PhenotypicFeature	hp	UMLS:C1847363		Absent/small ribs|Absent/underdeveloped ribs|Hypoplastic or missing ribs	http://purl.obolibrary.org/obo/HP_0006712	
HP:0006713	Aplasia/Hypoplasia of the scapulae	biolink:PhenotypicFeature	hp	UMLS:C4024991		Absent/small shoulder blade|Absent/underdeveloped shoulder blade	http://purl.obolibrary.org/obo/HP_0006713	
HP:0006714	Aplasia/Hypoplasia of the sternum	biolink:PhenotypicFeature	hp	UMLS:C4024990		Absent/small sternum|Absent/underdeveloped sternum	http://purl.obolibrary.org/obo/HP_0006714	
HP:0006715	Glomus tympanicum paraganglioma	biolink:PhenotypicFeature	hp	UMLS:C1866555		Tympanic nerve tumor|Tympanic nerve tumors	http://purl.obolibrary.org/obo/HP_0006715	
HP:0006716	Hereditary nonpolyposis colorectal carcinoma	biolink:PhenotypicFeature	hp	UMLS:C4024989			http://purl.obolibrary.org/obo/HP_0006716	
HP:0006717	Peripheral neuroepithelioma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254764001|UMLS:C3489398			http://purl.obolibrary.org/obo/HP_0006717	
HP:0006719	Benign gastrointestinal tract tumors	biolink:PhenotypicFeature	hp	SNOMEDCT_US:92118007|UMLS:C0497538		Benign GI tract tumors|Non-cancerous GI tumors|Benign gastrointestinal tract tumours	http://purl.obolibrary.org/obo/HP_0006719	
HP:0006721	Acute lymphoblastic leukemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128822004|SNOMEDCT_US:91857003|UMLS:C0023449		Acute lymphoblastic leukaemia|Acute lymphatic leukemia|Acute lymphocytic leukemia|Acute lymphoid leukemia	http://purl.obolibrary.org/obo/HP_0006721	A form of acute leukemia characterized by excess lympoblasts.
HP:0006722	Small intestine carcinoid	biolink:PhenotypicFeature	hp	UMLS:C1868072			http://purl.obolibrary.org/obo/HP_0006722	
HP:0006723	Intestinal carcinoid	biolink:PhenotypicFeature	hp	UMLS:C4024988			http://purl.obolibrary.org/obo/HP_0006723	
HP:0006725	Pancreatic adenocarcinoma	biolink:PhenotypicFeature	hp	NCIT:C2852|SNOMEDCT_US:700423003|UMLS:C0281361			http://purl.obolibrary.org/obo/HP_0006725	The presence of an adenocarcinoma of the pancreas.
HP:0006727	T-cell acute lymphoblastic leukemias	biolink:PhenotypicFeature	hp	MSH:D054218|SNOMEDCT_US:128824003|SNOMEDCT_US:277575008|UMLS:C1961099			http://purl.obolibrary.org/obo/HP_0006727	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	biolink:PhenotypicFeature	hp	NCIT:C3308|UMLS:C4024987			http://purl.obolibrary.org/obo/HP_0006729	
HP:0006731	Follicular thyroid carcinoma	biolink:PhenotypicFeature	hp	MSH:D018263|NCIT:C8054|SNOMEDCT_US:255028004|SNOMEDCT_US:28173006|SNOMEDCT_US:5257006|UMLS:C0206682			http://purl.obolibrary.org/obo/HP_0006731	The presence of an follicular adenocarcinoma of the thyroid gland.
HP:0006732	Papillary renal cell carcinoma type 2	biolink:PhenotypicFeature	hp	UMLS:C1336840			http://purl.obolibrary.org/obo/HP_0006732	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	biolink:PhenotypicFeature	hp	MSH:D015470|SNOMEDCT_US:17788007|SNOMEDCT_US:413443009|SNOMEDCT_US:91861009|UMLS:C0023467		AMegL|Acute megakaryocytic leukaemia	http://purl.obolibrary.org/obo/HP_0006733	A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.
HP:0006735	Renal cortical adenoma	biolink:PhenotypicFeature	hp	NCIT:C2855|SNOMEDCT_US:254919009|UMLS:C0346253		Kidney cortical adenoma	http://purl.obolibrary.org/obo/HP_0006735	The presence of an adenoma in the cortex of the kidney.
HP:0006737	Extraadrenal pheochromocytoma	biolink:PhenotypicFeature	hp	MSH:D010673|UMLS:C1257877		Pheochromocytoma, extraadrenal	http://purl.obolibrary.org/obo/HP_0006737	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254651007|UMLS:C0553723		Squamous skin carcinoma	http://purl.obolibrary.org/obo/HP_0006739	Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
HP:0006740	Transitional cell carcinoma of the bladder	biolink:PhenotypicFeature	hp	NCIT:C2930|SNOMEDCT_US:255109008|UMLS:C0279680		Transitional cell bladder carcinoma	http://purl.obolibrary.org/obo/HP_0006740	The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
HP:0006742	Congenital neuroblastoma	biolink:PhenotypicFeature	hp	UMLS:C4024986			http://purl.obolibrary.org/obo/HP_0006742	
HP:0006743	Embryonal rhabdomyosarcoma	biolink:PhenotypicFeature	hp	MSH:D018233|NCIT:C8971|SNOMEDCT_US:14269005|SNOMEDCT_US:404051002|UMLS:C0206656			http://purl.obolibrary.org/obo/HP_0006743	
HP:0006744	Adrenocortical carcinoma	biolink:PhenotypicFeature	hp	MSH:D018268|NCIT:C2916|SNOMEDCT_US:2227007|SNOMEDCT_US:255035007|UMLS:C0206686		Adrenal carcinoma|Adrenal gland carinoma	http://purl.obolibrary.org/obo/HP_0006744	A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
HP:0006747	Ganglioneuroblastoma	biolink:PhenotypicFeature	hp	MSH:D018305|SNOMEDCT_US:116381000119105|SNOMEDCT_US:69515008|UMLS:C0206718			http://purl.obolibrary.org/obo/HP_0006747	
HP:0006748	Adrenal pheochromocytoma	biolink:PhenotypicFeature	hp	MSH:D010673|NCIT:C3326|SNOMEDCT_US:302835009|SNOMEDCT_US:399343007|SNOMEDCT_US:85583005|UMLS:C0031511		Pheochromocytoma, adrenal|Pheochromocytomas, adrenal	http://purl.obolibrary.org/obo/HP_0006748	Pheochromocytoma originating from the adrenal medulla.
HP:0006749	Malignant gastrointestinal tract tumors	biolink:PhenotypicFeature	hp	MSH:D005770|SNOMEDCT_US:428905002|UMLS:C0685938		Malignant GI tract tumors|Malignant gastrointestinal tract tumours	http://purl.obolibrary.org/obo/HP_0006749	
HP:0006751	Paraspinal neurofibromas	biolink:PhenotypicFeature	hp	UMLS:C4024985			http://purl.obolibrary.org/obo/HP_0006751	
HP:0006753	Neoplasm of the stomach	biolink:PhenotypicFeature	hp	MSH:D013274|NCIT:C3262|SNOMEDCT_US:126824007|UMLS:C0038356|UMLS:C4020813		Stomach tumor|Neoplasia of the stomach	http://purl.obolibrary.org/obo/HP_0006753	A tumor (abnormal growth of tissue) of the stomach.
HP:0006755	Cutaneous leiomyosarcoma	biolink:PhenotypicFeature	hp	NCIT:C3158|SNOMEDCT_US:254771006|UMLS:C0346067			http://purl.obolibrary.org/obo/HP_0006755	The presence of leiomyosarcoma of the skin.
HP:0006756	Diffuse leiomyomatosis	biolink:PhenotypicFeature	hp	UMLS:C4024984			http://purl.obolibrary.org/obo/HP_0006756	
HP:0006758	Malignant genitourinary tract tumor	biolink:PhenotypicFeature	hp	UMLS:C1834728		Malignant GU tract tumor|Malignant genitourinary tract tumour	http://purl.obolibrary.org/obo/HP_0006758	The presence of a malignant neoplasm of the genital system.
HP:0006762	Renal pelvic carcinoma	biolink:PhenotypicFeature	hp	NCIT:C2916|UMLS:C4024983			http://purl.obolibrary.org/obo/HP_0006762	The presence of a carcinoma in the renal pelvis.
HP:0006763	Anal canal squamous carcinoma	biolink:PhenotypicFeature	hp	UMLS:C4024982			http://purl.obolibrary.org/obo/HP_0006763	
HP:0006765	Chondrosarcoma	biolink:PhenotypicFeature	hp	MSH:D002813|NCIT:C2946|SNOMEDCT_US:14990007|SNOMEDCT_US:443520009|UMLS:C0008479			http://purl.obolibrary.org/obo/HP_0006765	A slowly growing malignant neoplasm derived from cartilage cells.
HP:0006766	Papillary renal cell carcinoma	biolink:PhenotypicFeature	hp	MSH:D002292|NCIT:C2916|UMLS:C1306837			http://purl.obolibrary.org/obo/HP_0006766	The presence of renal cell carcinoma in the renal papilla.
HP:0006767	Pituitary prolactin cell adenoma	biolink:PhenotypicFeature	hp	MSH:D015175|SNOMEDCT_US:134209002|SNOMEDCT_US:34337008|UMLS:C0033375		Pituitary prolactinoma|Prolactin-secreting pituitary adenoma	http://purl.obolibrary.org/obo/HP_0006767	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	biolink:PhenotypicFeature	hp	UMLS:C4024981		Localised neuroblastoma	http://purl.obolibrary.org/obo/HP_0006768	
HP:0006769	Myxoid subcutaneous tumors	biolink:PhenotypicFeature	hp	UMLS:C1834421		Myxoid subcutaneous tumours	http://purl.obolibrary.org/obo/HP_0006769	
HP:0006770	Clear cell renal cell carcinoma	biolink:PhenotypicFeature	hp	MSH:D002292|SNOMEDCT_US:188251003|SNOMEDCT_US:254915003|SNOMEDCT_US:41607009|UMLS:C0279702		Nonpapillary renal cell carcinoma	http://purl.obolibrary.org/obo/HP_0006770	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	biolink:PhenotypicFeature	hp	MSH:D004379|NCIT:C2852|SNOMEDCT_US:254570009|SNOMEDCT_US:408644002|UMLS:C0278804|UMLS:C0541912		Duodenal cancer	http://purl.obolibrary.org/obo/HP_0006771	A malignant epithelial tumor with a glandular organization that originates in the duodenum.
HP:0006772	Renal angiomyolipoma	biolink:PhenotypicFeature	hp	NCIT:C3734|SNOMEDCT_US:254921004|UMLS:C0241961		Angiomyolipoma|Kidney angiomyolipoma	http://purl.obolibrary.org/obo/HP_0006772	A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
HP:0006773	Cutaneous angiolipomas	biolink:PhenotypicFeature	hp	NCIT:C3733|UMLS:C4024980			http://purl.obolibrary.org/obo/HP_0006773	
HP:0006774	Ovarian papillary adenocarcinoma	biolink:PhenotypicFeature	hp	NCIT:C2853|UMLS:C4024979			http://purl.obolibrary.org/obo/HP_0006774	The presence of a papillary adenocarcinoma of the ovary.
HP:0006775	Multiple myeloma	biolink:PhenotypicFeature	hp	MSH:D009101|MSH:D010954|SNOMEDCT_US:10639003|SNOMEDCT_US:109989006|SNOMEDCT_US:415112005|SNOMEDCT_US:55921005|UMLS:C0026764|UMLS:C0032131		Kahler's disease|Plasmocytoma	http://purl.obolibrary.org/obo/HP_0006775	A malignant plasma cell tumor growing within soft tissue or within the skeleton.
HP:0006778	Benign genitourinary tract neoplasm	biolink:PhenotypicFeature	hp	UMLS:C3804991		Benign GU tract neoplasm|Benign genitourinary tract tumor	http://purl.obolibrary.org/obo/HP_0006778	A non-malignant neoplasm of the genitourinary system.
HP:0006779	Alveolar rhabdomyosarcoma	biolink:PhenotypicFeature	hp	MSH:D018232|NCIT:C3749|SNOMEDCT_US:404053004|SNOMEDCT_US:63449009|UMLS:C0206655			http://purl.obolibrary.org/obo/HP_0006779	
HP:0006780	Parathyroid carcinoma	biolink:PhenotypicFeature	hp	MSH:D010282|NCIT:C2916|SNOMEDCT_US:255037004|SNOMEDCT_US:363481002|UMLS:C0687150		Parathyroid Cancer	http://purl.obolibrary.org/obo/HP_0006780	A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.
HP:0006781	Hurthle cell thyroid adenoma	biolink:PhenotypicFeature	hp	UMLS:C1336750			http://purl.obolibrary.org/obo/HP_0006781	A kind of thyroid adenoma characterized by the presence of oxyphil cells.
HP:0006782	Malignant eosinophil proliferation	biolink:PhenotypicFeature	hp	MSH:C565054|UMLS:C1851585			http://purl.obolibrary.org/obo/HP_0006782	
HP:0006783	Posterior pharyngeal cleft	biolink:PhenotypicFeature	hp	UMLS:C1848389			http://purl.obolibrary.org/obo/HP_0006783	
HP:0006784	Paranasal sinus hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C2749161|UMLS:C4280256|UMLS:C4280441|UMLS:C4280442		Small paranasal sinus|Decreased size of paranasal sinus|Decreased volume of paranasal sinus|Underdevelopment of paranasal sinus|Decreased growth of paranasal sinus|Decreased pneumatization of paranasal sinus|Atelectasis of paranasal sinus|Hypotrophic paranasal sinus	http://purl.obolibrary.org/obo/HP_0006784	Underdevelopment of the paranasal sinuses.
HP:0006785	Limb-girdle muscular dystrophy	biolink:PhenotypicFeature	hp	MSH:D049288|SNOMEDCT_US:93153005|UMLS:C0686353		limb girdle muscular dystrophy	http://purl.obolibrary.org/obo/HP_0006785	Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).
HP:0006789	Mitochondrial encephalopathy	biolink:PhenotypicFeature	hp	MSH:C538525|UMLS:C1852373			http://purl.obolibrary.org/obo/HP_0006789	
HP:0006790	Cerebral cortex with spongiform changes	biolink:PhenotypicFeature	hp	UMLS:C1857934			http://purl.obolibrary.org/obo/HP_0006790	
HP:0006794	Loss of ability to walk in first decade	biolink:PhenotypicFeature	hp	UMLS:C1846133		Loss of ability to walk in first decade	http://purl.obolibrary.org/obo/HP_0006794	
HP:0006799	Basal ganglia cysts	biolink:PhenotypicFeature	hp	UMLS:C1837251		Cystic lesions in the basal ganglia	http://purl.obolibrary.org/obo/HP_0006799	
HP:0006801	Hyperactive deep tendon reflexes	biolink:PhenotypicFeature	hp	UMLS:C1846176			http://purl.obolibrary.org/obo/HP_0006801	
HP:0006802	Abnormal anterior horn cell morphology	biolink:PhenotypicFeature	hp	MSH:D016472|SNOMEDCT_US:85672005|UMLS:C0154681|UMLS:C4020812		Abnormality of the anterior horn cell|Abnormality of the anterior horn cells|Anomaly of the anterior horn cells|Anterior horn cell disease	http://purl.obolibrary.org/obo/HP_0006802	Any anomaly of the anterior horn cell.
HP:0006803	Vivid hallucinations	biolink:PhenotypicFeature	hp	UMLS:C4024978			http://purl.obolibrary.org/obo/HP_0006803	
HP:0006808	Cerebral hypomyelination	biolink:PhenotypicFeature	hp	UMLS:C2677328		Hypomyelination of the brain	http://purl.obolibrary.org/obo/HP_0006808	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	biolink:PhenotypicFeature	hp	UMLS:C1836525			http://purl.obolibrary.org/obo/HP_0006812	
HP:0006813	Focal hemiclonic seizure	biolink:PhenotypicFeature	hp	UMLS:C1846620		Hemiclonic seizures|Unilateral clonic seizures|Hemiclonic seizure|Unilateral clonic seizure	http://purl.obolibrary.org/obo/HP_0006813	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	biolink:PhenotypicFeature	hp	UMLS:C1855676|UMLS:C3280770		Cerebellar vermis aplasia/hypoplasia|Hypo/aplastic vermis|Cerebellar vermis aplasia or hypoplasia	http://purl.obolibrary.org/obo/HP_0006817	Absence or underdevelopment of the vermis of cerebellum.
HP:0006818	4-layered lissencephaly	biolink:PhenotypicFeature	hp	MSH:D054221|SNOMEDCT_US:253147000|UMLS:C0431375		Classic lissencephaly|Four-layered lissencephaly|Lissencephaly, type I|Type 1 lissencephaly|Type I lissencephaly	http://purl.obolibrary.org/obo/HP_0006818	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	biolink:PhenotypicFeature	hp	UMLS:C1847356		Polymicrogyria, anterior to posterior gradient	http://purl.obolibrary.org/obo/HP_0006821	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	biolink:PhenotypicFeature	hp	MSH:D003389|SNOMEDCT_US:73013002|UMLS:C0151311|UMLS:C4025709		Cranial nerve palsies|Cranial nerve palsy|Cranial nerve paresis	http://purl.obolibrary.org/obo/HP_0006824	
HP:0006825	Pallor of dorsal columns of the spinal cord	biolink:PhenotypicFeature	hp	UMLS:C1865416			http://purl.obolibrary.org/obo/HP_0006825	
HP:0006827	Atrophy of the spinal cord	biolink:PhenotypicFeature	hp	UMLS:C1389102		Degeneration of the spinal cord	http://purl.obolibrary.org/obo/HP_0006827	
HP:0006829	Severe muscular hypotonia	biolink:PhenotypicFeature	hp	UMLS:C1839630		Severely decreased muscle tone|Hypotonia, severe	http://purl.obolibrary.org/obo/HP_0006829	A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
HP:0006830	obsolete Severe neonatal hypotonia in males	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0006830	
HP:0006834	Developmental stagnation at onset of seizures	biolink:PhenotypicFeature	hp	UMLS:C1836829			http://purl.obolibrary.org/obo/HP_0006834	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	biolink:PhenotypicFeature	hp	MSH:C564178|UMLS:C1840475			http://purl.obolibrary.org/obo/HP_0006837	A type of Horner syndrome with congenital onset.
HP:0006844	Absent patellar reflexes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274817009|UMLS:C0558844		Absent knee jerk reflex	http://purl.obolibrary.org/obo/HP_0006844	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2776000|UMLS:C1306587			http://purl.obolibrary.org/obo/HP_0006846	
HP:0006849	Hypodysplasia of the corpus callosum	biolink:PhenotypicFeature	hp	UMLS:C1850348			http://purl.obolibrary.org/obo/HP_0006849	
HP:0006850	Hypoplasia of the ventral pons	biolink:PhenotypicFeature	hp	UMLS:C1843507		Underdeveloped ventral pons	http://purl.obolibrary.org/obo/HP_0006850	Underdevelopment of the ventral portion of the pons.
HP:0006851	Symmetric spinal nerve root neurofibromas	biolink:PhenotypicFeature	hp	UMLS:C1834236		Spinal nerve root neurofibromas, symmetric, multiple	http://purl.obolibrary.org/obo/HP_0006851	Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.
HP:0006852	Episodic generalized hypotonia	biolink:PhenotypicFeature	hp	UMLS:C4024976		Episodic generalised hypotonia	http://purl.obolibrary.org/obo/HP_0006852	The occurrence of repeated episodes of generalized muscular hypotonia.
HP:0006855	Cerebellar vermis atrophy	biolink:PhenotypicFeature	hp	UMLS:C0742028		Atrophy of cerebellar vermis|Atrophy of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0006855	Wasting (atrophy) of the vermis of cerebellum.
HP:0006858	Impaired distal proprioception	biolink:PhenotypicFeature	hp	UMLS:C4021585		Distal sensory loss of proprioception	http://purl.obolibrary.org/obo/HP_0006858	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	biolink:PhenotypicFeature	hp	UMLS:C4024975			http://purl.obolibrary.org/obo/HP_0006859	
HP:0006863	Severe expressive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62221000119105|UMLS:C1851085			http://purl.obolibrary.org/obo/HP_0006863	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	biolink:PhenotypicFeature	hp	UMLS:C4024974			http://purl.obolibrary.org/obo/HP_0006865	
HP:0006866	Midline central nervous system lipomas	biolink:PhenotypicFeature	hp	UMLS:C4024973		Midline CNS lipomas	http://purl.obolibrary.org/obo/HP_0006866	
HP:0006870	Lobar holoprosencephaly	biolink:PhenotypicFeature	hp	MSH:D016142|SNOMEDCT_US:253136007|UMLS:C0431362			http://purl.obolibrary.org/obo/HP_0006870	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	biolink:PhenotypicFeature	hp	UMLS:C1855330		Small cerebrum|Underdeveloped cerebrum	http://purl.obolibrary.org/obo/HP_0006872	Underdevelopment of the cerebrum.
HP:0006873	Symmetrical progressive peripheral demyelination	biolink:PhenotypicFeature	hp	UMLS:C4024972			http://purl.obolibrary.org/obo/HP_0006873	A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0006877	obsolete Mental retardation, in some	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0006877	
HP:0006879	Pontocerebellar atrophy	biolink:PhenotypicFeature	hp	UMLS:C1853766			http://purl.obolibrary.org/obo/HP_0006879	Atrophy affecting the pons and the cerebellum.
HP:0006880	Cerebellar hemangioblastoma	biolink:PhenotypicFeature	hp	NCIT:C3801|UMLS:C1332900		Hemangioblastoma, sporadic cerebellar	http://purl.obolibrary.org/obo/HP_0006880	A hemangioblastoma of the cerebellum.
HP:0006881	Diffuse peripheral demyelination	biolink:PhenotypicFeature	hp	UMLS:C4024971			http://purl.obolibrary.org/obo/HP_0006881	A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0006882	Severe hydrocephalus	biolink:PhenotypicFeature	hp	UMLS:C3278123			http://purl.obolibrary.org/obo/HP_0006882	
HP:0006886	Impaired distal vibration sensation	biolink:PhenotypicFeature	hp	UMLS:C1853767		Decreased distal vibration sense	http://purl.obolibrary.org/obo/HP_0006886	A decrease in the ability to perceive vibration in the distal portions of the limbs.
HP:0006887	Intellectual disability, progressive	biolink:PhenotypicFeature	hp	UMLS:C1846149		Intellectual disability, progressive|Mental retardation, progressive|Progressive mental retardation	http://purl.obolibrary.org/obo/HP_0006887	The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
HP:0006888	Meningoencephalocele	biolink:PhenotypicFeature	hp	SNOMEDCT_US:52330001|UMLS:C0266456			http://purl.obolibrary.org/obo/HP_0006888	
HP:0006889	Intellectual disability, borderline	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77287004|UMLS:C0006009		Intellectual disability, borderline|Mental retardation, borderline	http://purl.obolibrary.org/obo/HP_0006889	Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
HP:0006891	Thick cerebral cortex	biolink:PhenotypicFeature	hp	UMLS:C4024970			http://purl.obolibrary.org/obo/HP_0006891	
HP:0006892	Frontotemporal cerebral atrophy	biolink:PhenotypicFeature	hp	UMLS:C4021584		Cerebral atrophy, frontotemporal	http://purl.obolibrary.org/obo/HP_0006892	Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.
HP:0006893	Severely dysplastic cerebellum	biolink:PhenotypicFeature	hp	UMLS:C4024969			http://purl.obolibrary.org/obo/HP_0006893	
HP:0006894	Hypoplastic olfactory lobes	biolink:PhenotypicFeature	hp	UMLS:C1859231			http://purl.obolibrary.org/obo/HP_0006894	
HP:0006895	Lower limb hypertonia	biolink:PhenotypicFeature	hp	UMLS:C1845245			http://purl.obolibrary.org/obo/HP_0006895	
HP:0006896	Hypnopompic hallucinations	biolink:PhenotypicFeature	hp	MSH:D006212|SNOMEDCT_US:69690008|UMLS:C0424082			http://purl.obolibrary.org/obo/HP_0006896	
HP:0006897	Cranial nerve VI palsy	biolink:PhenotypicFeature	hp	MSH:C564661|MSH:D020434|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|SNOMEDCT_US:398963001|UMLS:C0271355		Abducens nerve palsy|Abducens nerve paralysis|Abducens nerve paresis|Lateral rectus muscle denervation paresis	http://purl.obolibrary.org/obo/HP_0006897	
HP:0006899	Fusion of the cerebellar hemispheres	biolink:PhenotypicFeature	hp	UMLS:C1866131			http://purl.obolibrary.org/obo/HP_0006899	
HP:0006901	Impaired thermal sensitivity	biolink:PhenotypicFeature	hp	UMLS:C4024968			http://purl.obolibrary.org/obo/HP_0006901	
HP:0006903	Congenital peripheral neuropathy	biolink:PhenotypicFeature	hp	UMLS:C4024967			http://purl.obolibrary.org/obo/HP_0006903	
HP:0006904	Late-onset spinocerebellar degeneration	biolink:PhenotypicFeature	hp	UMLS:C1856604			http://purl.obolibrary.org/obo/HP_0006904	
HP:0006906	Congenital intracerebral calcification	biolink:PhenotypicFeature	hp	UMLS:C4024966			http://purl.obolibrary.org/obo/HP_0006906	The presence of calcium deposition within brain structures that is present already at the time of birth.
HP:0006913	Frontal cortical atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024965		Frontal cortex degeneration	http://purl.obolibrary.org/obo/HP_0006913	Atrophy of the frontal cortex.
HP:0006915	Inability to walk by childhood/adolescence	biolink:PhenotypicFeature	hp	UMLS:C1859200		Inability to walk by childhood/adolescence	http://purl.obolibrary.org/obo/HP_0006915	
HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	biolink:PhenotypicFeature	hp	UMLS:C1832339|UMLS:C4024964		Intraaxonal accumulation of curvilinear profiles	http://purl.obolibrary.org/obo/HP_0006916	Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.
HP:0006918	Diffuse cerebral sclerosis	biolink:PhenotypicFeature	hp	MSH:D002549|SNOMEDCT_US:49692006|UMLS:C0007795			http://purl.obolibrary.org/obo/HP_0006918	
HP:0006919	Abnormal aggressive, impulsive or violent behavior	biolink:PhenotypicFeature	hp	UMLS:C4024963		Aggressive/violent behavior|Abnormal aggressive, impulsive or violent behaviour	http://purl.obolibrary.org/obo/HP_0006919	
HP:0006921	Axial muscle stiffness	biolink:PhenotypicFeature	hp	UMLS:C4024962			http://purl.obolibrary.org/obo/HP_0006921	Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.
HP:0006926	Metachromatic leukodystrophy variant	biolink:PhenotypicFeature	hp	UMLS:C4024961			http://purl.obolibrary.org/obo/HP_0006926	
HP:0006927	Unilateral polymicrogyria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:715905006|UMLS:C4024960			http://purl.obolibrary.org/obo/HP_0006927	Excessive number of small gyri (convolutions) on the surface of one side of the brain.
HP:0006929	Hypoglycemic encephalopathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:64624009|UMLS:C0149877			http://purl.obolibrary.org/obo/HP_0006929	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	biolink:PhenotypicFeature	hp	UMLS:C4024959			http://purl.obolibrary.org/obo/HP_0006930	The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.
HP:0006931	Lipoma of corpus callosum	biolink:PhenotypicFeature	hp	UMLS:C1333160			http://purl.obolibrary.org/obo/HP_0006931	
HP:0006932	Transient psychotic episodes	biolink:PhenotypicFeature	hp	UMLS:C4024958			http://purl.obolibrary.org/obo/HP_0006932	
HP:0006934	Congenital nystagmus	biolink:PhenotypicFeature	hp	MSH:D020417|SNOMEDCT_US:64635004|UMLS:C0700501		Nystagmus, congenital	http://purl.obolibrary.org/obo/HP_0006934	Nystagmus dating from or present at birth.
HP:0006937	Impaired distal tactile sensation	biolink:PhenotypicFeature	hp	UMLS:C4021583		Decreased touch sensation in extremities|Decreased distal touch sense	http://purl.obolibrary.org/obo/HP_0006937	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	biolink:PhenotypicFeature	hp	UMLS:C1854372		Decreased vibration sense at ankles|Decreased vibration sense in feet|Impaired vibration sensation at ankles	http://purl.obolibrary.org/obo/HP_0006938	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	biolink:PhenotypicFeature	hp	UMLS:C1858857			http://purl.obolibrary.org/obo/HP_0006943	
HP:0006944	Abolished vibration sense	biolink:PhenotypicFeature	hp	UMLS:C1837520		Apallesthesia	http://purl.obolibrary.org/obo/HP_0006944	A complete loss of the ability to perceive vibration.
HP:0006946	Recurrent meningitis	biolink:PhenotypicFeature	hp	UMLS:C0746495			http://purl.obolibrary.org/obo/HP_0006946	An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
HP:0006949	Episodic peripheral neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1848695			http://purl.obolibrary.org/obo/HP_0006949	
HP:0006951	Retrocerebellar cyst	biolink:PhenotypicFeature	hp	UMLS:C1845370			http://purl.obolibrary.org/obo/HP_0006951	
HP:0006955	Olivopontocerebellar hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1859341			http://purl.obolibrary.org/obo/HP_0006955	Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
HP:0006956	Dilation of lateral ventricles	biolink:PhenotypicFeature	hp	UMLS:C1856409		Dilatation of lateral cerebral ventricles|Enlarged lateral ventricles|Lateral ventricle dilatation	http://purl.obolibrary.org/obo/HP_0006956	
HP:0006957	Loss of ability to walk	biolink:PhenotypicFeature	hp	UMLS:C1849097		Loss of ability to walk	http://purl.obolibrary.org/obo/HP_0006957	
HP:0006958	Abnormal auditory evoked potentials	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102971006|UMLS:C0522216		Abnormal brainstem auditory-evoked potentials	http://purl.obolibrary.org/obo/HP_0006958	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	biolink:PhenotypicFeature	hp	UMLS:C4024957			http://purl.obolibrary.org/obo/HP_0006959	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	biolink:PhenotypicFeature	hp	UMLS:C1863184		Calcified choroid plexus	http://purl.obolibrary.org/obo/HP_0006960	The presence of calcium deposition in the choroid plexus.
HP:0006961	Jerky head movements	biolink:PhenotypicFeature	hp	UMLS:C1855568		Head jerking|Jerking head movements	http://purl.obolibrary.org/obo/HP_0006961	
HP:0006962	Gait instability, worse in the dark	biolink:PhenotypicFeature	hp	UMLS:C1837016		Unstable walking, worse in the dark	http://purl.obolibrary.org/obo/HP_0006962	
HP:0006964	Cerebral cortical neurodegeneration	biolink:PhenotypicFeature	hp	UMLS:C1859863			http://purl.obolibrary.org/obo/HP_0006964	
HP:0006965	Acute necrotizing encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C1855020			http://purl.obolibrary.org/obo/HP_0006965	
HP:0006970	Periventricular leukomalacia	biolink:PhenotypicFeature	hp	MSH:D007969|SNOMEDCT_US:230769007|UMLS:C0023529			http://purl.obolibrary.org/obo/HP_0006970	
HP:0006976	Necrotizing encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C1396481			http://purl.obolibrary.org/obo/HP_0006976	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	Grammar-specific speech disorder	biolink:PhenotypicFeature	hp	UMLS:C4024956		Grammar-specific speech disorder	http://purl.obolibrary.org/obo/HP_0006977	
HP:0006978	Dysmyelinating leukodystrophy	biolink:PhenotypicFeature	hp	UMLS:C3278204			http://purl.obolibrary.org/obo/HP_0006978	
HP:0006979	Sleep-wake cycle disturbance	biolink:PhenotypicFeature	hp	UMLS:C1833362		Sleep-wake cycle disturbance	http://purl.obolibrary.org/obo/HP_0006979	Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake.
HP:0006980	Progressive leukoencephalopathy	biolink:PhenotypicFeature	hp	UMLS:C1855010		Leukoencephalopathy, progressive	http://purl.obolibrary.org/obo/HP_0006980	Leukoencephalopathy that gets more severe with time.
HP:0006983	Slowly progressive spastic quadriparesis	biolink:PhenotypicFeature	hp	UMLS:C4024955			http://purl.obolibrary.org/obo/HP_0006983	
HP:0006984	Distal sensory loss of all modalities	biolink:PhenotypicFeature	hp	UMLS:C1836527			http://purl.obolibrary.org/obo/HP_0006984	
HP:0006986	Upper limb spasticity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:394680009|UMLS:C1273957		Uncontrollable movement in upper arms	http://purl.obolibrary.org/obo/HP_0006986	
HP:0006988	Alobar holoprosencephaly	biolink:PhenotypicFeature	hp	MSH:D016142|SNOMEDCT_US:253137003|UMLS:C0431363			http://purl.obolibrary.org/obo/HP_0006988	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	biolink:PhenotypicFeature	hp	UMLS:C0431369		Dysgenesis of corpus callosum|Dysplasia of corpus callosum	http://purl.obolibrary.org/obo/HP_0006989	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	biolink:PhenotypicFeature	hp	UMLS:C4024954			http://purl.obolibrary.org/obo/HP_0006990	A type of gliosis that occurs in the vicinity of injured neurons.
HP:0006992	Anterior basal encephalocele	biolink:PhenotypicFeature	hp	UMLS:C1850961			http://purl.obolibrary.org/obo/HP_0006992	
HP:0006994	Diffuse leukoencephalopathy	biolink:PhenotypicFeature	hp	UMLS:C1868514			http://purl.obolibrary.org/obo/HP_0006994	
HP:0006999	Basal ganglia gliosis	biolink:PhenotypicFeature	hp	UMLS:C1864114|UMLS:C2750915		Gliosis in the basal ganglia	http://purl.obolibrary.org/obo/HP_0006999	Focal proliferation of glial cells in the basal ganglia.
HP:0007000	Morning myoclonic jerks	biolink:PhenotypicFeature	hp	UMLS:C1847164			http://purl.obolibrary.org/obo/HP_0007000	
HP:0007001	Loss of Purkinje cells in the cerebellar vermis	biolink:PhenotypicFeature	hp	UMLS:C1849146			http://purl.obolibrary.org/obo/HP_0007001	
HP:0007002	Motor axonal neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1854570|UMLS:C2749625|UMLS:C4020811		Distal motor neuropathy|Length dependent motor neuropathy	http://purl.obolibrary.org/obo/HP_0007002	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	biolink:PhenotypicFeature	hp	UMLS:C4024953			http://purl.obolibrary.org/obo/HP_0007006	
HP:0007007	Cavitation of the basal ganglia	biolink:PhenotypicFeature	hp	UMLS:C4024952			http://purl.obolibrary.org/obo/HP_0007007	The formation of small cavities in the tissue of the basal ganglia.
HP:0007009	Central nervous system degeneration	biolink:PhenotypicFeature	hp	UMLS:C3277687		CNS degeneration	http://purl.obolibrary.org/obo/HP_0007009	
HP:0007010	Poor fine motor coordination	biolink:PhenotypicFeature	hp	UMLS:C1867864		Fine motor disability|Fine motor impairment|Fine motor skill dysfunction|Impaired fine motor skills	http://purl.obolibrary.org/obo/HP_0007010	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	biolink:PhenotypicFeature	hp	MSH:D020432|SNOMEDCT_US:20610004|UMLS:C0271375		Trochlear nerve palsy	http://purl.obolibrary.org/obo/HP_0007011	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	biolink:PhenotypicFeature	hp	UMLS:C1867863		Gross motor impairment	http://purl.obolibrary.org/obo/HP_0007015	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	biolink:PhenotypicFeature	hp	UMLS:C1844007			http://purl.obolibrary.org/obo/HP_0007016	
HP:0007017	Progressive forgetfulness	biolink:PhenotypicFeature	hp	UMLS:C3277688		Forgetfullness	http://purl.obolibrary.org/obo/HP_0007017	
HP:0007018	Attention deficit hyperactivity disorder	biolink:PhenotypicFeature	hp	MSH:D001289|SNOMEDCT_US:406506008|SNOMEDCT_US:7461003|UMLS:C1263846		Attention deficit|Attention deficit disorder|Attention deficit-hyperactivity disorder|Attention deficits|Childhood attention deficit/hyperactivity disorder	http://purl.obolibrary.org/obo/HP_0007018	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	biolink:PhenotypicFeature	hp	UMLS:C1855483			http://purl.obolibrary.org/obo/HP_0007020	
HP:0007021	Pain insensitivity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:38433004|UMLS:C0344307		Absence of pain sensation	http://purl.obolibrary.org/obo/HP_0007021	Inability to perceive painful stimuli.
HP:0007023	Antenatal intracerebral hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C1837247		Antenatal intracerebral haemorrhage	http://purl.obolibrary.org/obo/HP_0007023	Cerebral hemorrhage that occurs before birth.
HP:0007024	Pseudobulbar paralysis	biolink:PhenotypicFeature	hp	MSH:D020828|SNOMEDCT_US:7379000|UMLS:C0033790		Pseudobulbar palsy|Pseudobulbar syndrome	http://purl.obolibrary.org/obo/HP_0007024	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	biolink:PhenotypicFeature	hp	UMLS:C4024951			http://purl.obolibrary.org/obo/HP_0007027	A morphological abnormality of the metencephalon.
HP:0007029	Cerebral berry aneurysm	biolink:PhenotypicFeature	hp	MSH:D000783|SNOMEDCT_US:54002007|UMLS:C2713497		Cerebral saccular aneurysm	http://purl.obolibrary.org/obo/HP_0007029	A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.
HP:0007030	Nonprogressive encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C4024950			http://purl.obolibrary.org/obo/HP_0007030	
HP:0007033	Cerebellar dysplasia	biolink:PhenotypicFeature	hp	UMLS:C3278322			http://purl.obolibrary.org/obo/HP_0007033	The presence of dysplasia (abnormal growth or development) of the cerebellum. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome.
HP:0007034	Generalized hyperreflexia	biolink:PhenotypicFeature	hp	UMLS:C4024949		Generalised hyperreflexia	http://purl.obolibrary.org/obo/HP_0007034	
HP:0007035	Anterior encephalocele	biolink:PhenotypicFeature	hp	UMLS:C4024948			http://purl.obolibrary.org/obo/HP_0007035	
HP:0007036	Hypoplasia of olfactory tract	biolink:PhenotypicFeature	hp	UMLS:C1856655		Underdeveloped olfactory tract	http://purl.obolibrary.org/obo/HP_0007036	
HP:0007039	Symmetric lesions of the basal ganglia	biolink:PhenotypicFeature	hp	UMLS:C4024947			http://purl.obolibrary.org/obo/HP_0007039	
HP:0007041	Chronic lymphocytic meningitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:230154004|UMLS:C0393441			http://purl.obolibrary.org/obo/HP_0007041	Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).
HP:0007042	Focal white matter lesions	biolink:PhenotypicFeature	hp	UMLS:C4024946			http://purl.obolibrary.org/obo/HP_0007042	
HP:0007045	Midline brain calcifications	biolink:PhenotypicFeature	hp	UMLS:C1855487			http://purl.obolibrary.org/obo/HP_0007045	
HP:0007047	Atrophy of the dentate nucleus	biolink:PhenotypicFeature	hp	UMLS:C1857788			http://purl.obolibrary.org/obo/HP_0007047	Partial or complete wasting (loss) of dentate nucleus.
HP:0007048	Large basal ganglia	biolink:PhenotypicFeature	hp	UMLS:C1859470			http://purl.obolibrary.org/obo/HP_0007048	Increased size of the basal ganglia.
HP:0007052	Multifocal cerebral white matter abnormalities	biolink:PhenotypicFeature	hp	UMLS:C1833434			http://purl.obolibrary.org/obo/HP_0007052	
HP:0007054	Hyperreflexia proximally	biolink:PhenotypicFeature	hp	UMLS:C1836012			http://purl.obolibrary.org/obo/HP_0007054	
HP:0007057	Poor hand-eye coordination	biolink:PhenotypicFeature	hp	UMLS:C1845864			http://purl.obolibrary.org/obo/HP_0007057	
HP:0007058	Generalized cerebral atrophy/hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4024945		Generalized cerebral degeneration/underdevelopment|Generalised cerebral atrophy/hypoplasia	http://purl.obolibrary.org/obo/HP_0007058	Generalized atrophy or hypoplasia of the cerebrum.
HP:0007063	Aplasia of the inferior half of the cerebellar vermis	biolink:PhenotypicFeature	hp	UMLS:C1857787		Absent inferior half of the cerebellar vermis	http://purl.obolibrary.org/obo/HP_0007063	
HP:0007064	Progressive language deterioration	biolink:PhenotypicFeature	hp	UMLS:C1843793			http://purl.obolibrary.org/obo/HP_0007064	Progressive loss of previously present language abilities.
HP:0007065	Disorganization of the anterior cerebellar vermis	biolink:PhenotypicFeature	hp	UMLS:C1845369		Disorganisation of the anterior cerebellar vermis	http://purl.obolibrary.org/obo/HP_0007065	
HP:0007066	Proximal limb muscle stiffness	biolink:PhenotypicFeature	hp	UMLS:C1861460			http://purl.obolibrary.org/obo/HP_0007066	
HP:0007067	Distal peripheral sensory neuropathy	biolink:PhenotypicFeature	hp	UMLS:C4021582		Peripheral sensory neuropathy, distal	http://purl.obolibrary.org/obo/HP_0007067	Peripheral sensory neuropathy affecting primarily distal sensation.
HP:0007068	Inferior vermis hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1855350		Hypoplasia of inferior vermis	http://purl.obolibrary.org/obo/HP_0007068	Underdevelopment of the inferior portion of the vermis of cerebellum.
HP:0007069	Profound static encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C4024944			http://purl.obolibrary.org/obo/HP_0007069	
HP:0007074	Thick corpus callosum	biolink:PhenotypicFeature	hp	UMLS:C1835194		Abnormal size of corpus callosum|Large corpus callosum	http://purl.obolibrary.org/obo/HP_0007074	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	biolink:PhenotypicFeature	hp	UMLS:C1852470			http://purl.obolibrary.org/obo/HP_0007076	Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
HP:0007078	Decreased amplitude of sensory action potentials	biolink:PhenotypicFeature	hp	UMLS:C4024943			http://purl.obolibrary.org/obo/HP_0007078	A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.
HP:0007081	Late-onset muscular dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024942			http://purl.obolibrary.org/obo/HP_0007081	
HP:0007082	Dilated third ventricle	biolink:PhenotypicFeature	hp	UMLS:C4024941			http://purl.obolibrary.org/obo/HP_0007082	An increase in size of the third ventricle.
HP:0007083	Hyperactive patellar reflex	biolink:PhenotypicFeature	hp	UMLS:C0240116		Overactive knee reflex|Brisk knee jerk|Hyperreflexia in knees	http://purl.obolibrary.org/obo/HP_0007083	
HP:0007086	Social and occupational deterioration	biolink:PhenotypicFeature	hp	UMLS:C1866986			http://purl.obolibrary.org/obo/HP_0007086	
HP:0007087	obsolete Involuntary jerking movements	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007087	
HP:0007089	Facial-lingual fasciculations	biolink:PhenotypicFeature	hp	UMLS:C1862359			http://purl.obolibrary.org/obo/HP_0007089	Fasciculations affecting the tongue muscle and the musculature of the face.
HP:0007095	Frontoparietal polymicrogyria	biolink:PhenotypicFeature	hp	UMLS:C3279674			http://purl.obolibrary.org/obo/HP_0007095	An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region.
HP:0007096	Hypoplasia of the optic tract	biolink:PhenotypicFeature	hp	UMLS:C1856654		Underdeveloped optic tract	http://purl.obolibrary.org/obo/HP_0007096	
HP:0007097	Cranial nerve motor loss	biolink:PhenotypicFeature	hp	UMLS:C4024940			http://purl.obolibrary.org/obo/HP_0007097	
HP:0007098	Paroxysmal choreoathetosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49949003|UMLS:C1851936		Choreoathetosis, episodic|Choreoathetosis, intermittent	http://purl.obolibrary.org/obo/HP_0007098	Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
HP:0007099	Arnold-Chiari type I malformation	biolink:PhenotypicFeature	hp	MSH:D001139|SNOMEDCT_US:253185002|UMLS:C0750929		Arnold Chiari type I malformation|Chiari I malformation	http://purl.obolibrary.org/obo/HP_0007099	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.
HP:0007100	Progressive ventriculomegaly	biolink:PhenotypicFeature	hp	UMLS:C1865119			http://purl.obolibrary.org/obo/HP_0007100	
HP:0007103	Hypointensity of cerebral white matter on MRI	biolink:PhenotypicFeature	hp	UMLS:C4020908		White matter hypointensities on MRI	http://purl.obolibrary.org/obo/HP_0007103	A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
HP:0007104	Prolonged somatosensory evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4024939			http://purl.obolibrary.org/obo/HP_0007104	
HP:0007105	Infantile encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C1856408			http://purl.obolibrary.org/obo/HP_0007105	Encephalopathy with onset in the infantile period.
HP:0007107	Segmental peripheral demyelination	biolink:PhenotypicFeature	hp	UMLS:C4024938			http://purl.obolibrary.org/obo/HP_0007107	A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.
HP:0007108	Demyelinating peripheral neuropathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:23414001|UMLS:C0270922			http://purl.obolibrary.org/obo/HP_0007108	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	biolink:PhenotypicFeature	hp	UMLS:C1839858			http://purl.obolibrary.org/obo/HP_0007109	
HP:0007110	Central hypoventilation	biolink:PhenotypicFeature	hp	UMLS:C3805839			http://purl.obolibrary.org/obo/HP_0007110	
HP:0007111	Chronic hepatic encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C4024937			http://purl.obolibrary.org/obo/HP_0007111	
HP:0007112	Temporal cortical atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024936			http://purl.obolibrary.org/obo/HP_0007112	Atrophy of the temporal cortex.
HP:0007115	Orbital encephalocele	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15671007|UMLS:C0271330			http://purl.obolibrary.org/obo/HP_0007115	
HP:0007117	Corticospinal tract atrophy	biolink:PhenotypicFeature	hp	UMLS:C1838868			http://purl.obolibrary.org/obo/HP_0007117	
HP:0007123	Subcortical dementia	biolink:PhenotypicFeature	hp	UMLS:C4024935			http://purl.obolibrary.org/obo/HP_0007123	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	biolink:PhenotypicFeature	hp	UMLS:C1850794		Wasting of muscles near the body|Muscle atrophy, proximal|Proximal muscle atrophy|Proximal muscle wasting|Symmetric proximal muscular atrophy|Symmetrical, proximal limb muscle atrophy	http://purl.obolibrary.org/obo/HP_0007126	Amyotrophy (muscular atrophy) affecting the proximal musculature.
HP:0007129	Cerebellar medulloblastoma	biolink:PhenotypicFeature	hp	UMLS:C4024934			http://purl.obolibrary.org/obo/HP_0007129	
HP:0007131	Acute demyelinating polyneuropathy	biolink:PhenotypicFeature	hp	UMLS:C4024933			http://purl.obolibrary.org/obo/HP_0007131	Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.
HP:0007132	Pallidal degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:230302004|UMLS:C0393577			http://purl.obolibrary.org/obo/HP_0007132	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	biolink:PhenotypicFeature	hp	UMLS:C1859178		Progressive polyneuropathy	http://purl.obolibrary.org/obo/HP_0007133	
HP:0007141	Sensorimotor neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1112256		Nerve damage causing decreased feeling and movement|Mixed polyneuropathy|Sensorimotor peripheral neuropathy	http://purl.obolibrary.org/obo/HP_0007141	
HP:0007146	Bilateral basal ganglia lesions	biolink:PhenotypicFeature	hp	UMLS:C4024932			http://purl.obolibrary.org/obo/HP_0007146	
HP:0007149	Distal upper limb amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C4021581		Distal upper limb muscle atrophy	http://purl.obolibrary.org/obo/HP_0007149	Muscular atrophy of distal arm muscles.
HP:0007153	Progressive extrapyramidal movement disorder	biolink:PhenotypicFeature	hp	UMLS:C2748610			http://purl.obolibrary.org/obo/HP_0007153	
HP:0007156	Asymmetric limb muscle stiffness	biolink:PhenotypicFeature	hp	UMLS:C4024931			http://purl.obolibrary.org/obo/HP_0007156	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	biolink:PhenotypicFeature	hp	UMLS:C4021580		Progressive extrapyramidal rigidity	http://purl.obolibrary.org/obo/HP_0007158	A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
HP:0007159	Fluctuations in consciousness	biolink:PhenotypicFeature	hp	UMLS:C1851959			http://purl.obolibrary.org/obo/HP_0007159	
HP:0007162	Diffuse demyelination of the cerebral white matter	biolink:PhenotypicFeature	hp	UMLS:C4024930			http://purl.obolibrary.org/obo/HP_0007162	A diffuse loss of myelin from nerve fibers in the central nervous system.
HP:0007163	obsolete Corticospinal tract disease in lower limbs	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007163	
HP:0007164	Slowed slurred speech	biolink:PhenotypicFeature	hp	UMLS:C4024929		Slowed slurred speech	http://purl.obolibrary.org/obo/HP_0007164	
HP:0007165	Periventricular heterotopia	biolink:PhenotypicFeature	hp	UMLS:C1849173		Periventricular gray matter heterotopia|Periventricular neuronal heterotopia|Subependymal gray matter heterotopia|Subependymal neuronal heterotopia	http://purl.obolibrary.org/obo/HP_0007165	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	biolink:PhenotypicFeature	hp	MSH:D002819|UMLS:C0752210|UMLS:C1836174		Involuntary dystonic or choreiform movements	http://purl.obolibrary.org/obo/HP_0007166	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	biolink:PhenotypicFeature	hp	MSH:D009443|MSH:D011115|SNOMEDCT_US:85423005|SNOMEDCT_US:95663000|UMLS:C0235025|UMLS:C0271683		Peripheral motor neuropathy	http://purl.obolibrary.org/obo/HP_0007178	
HP:0007179	Absent smooth pursuit	biolink:PhenotypicFeature	hp	UMLS:C4024928			http://purl.obolibrary.org/obo/HP_0007179	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	biolink:PhenotypicFeature	hp	UMLS:C1846829		Interosseous muscular atrophy	http://purl.obolibrary.org/obo/HP_0007181	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	biolink:PhenotypicFeature	hp	UMLS:C4024927			http://purl.obolibrary.org/obo/HP_0007182	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	biolink:PhenotypicFeature	hp	UMLS:C1865351|UMLS:C4024926		Hyperintense lesions in the basal ganglia on MRI	http://purl.obolibrary.org/obo/HP_0007183	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	biolink:PhenotypicFeature	hp	MSH:D014474|SNOMEDCT_US:418107008|SNOMEDCT_US:419045004|UMLS:C0041657		Loss of consciousness|Passing out	http://purl.obolibrary.org/obo/HP_0007185	
HP:0007187	Focal lissencephaly	biolink:PhenotypicFeature	hp	UMLS:C1855230			http://purl.obolibrary.org/obo/HP_0007187	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	biolink:PhenotypicFeature	hp	MSH:C531747|UMLS:C0853240		Congenital bilateral facial palsy|Congenital bilateral facial weakness	http://purl.obolibrary.org/obo/HP_0007188	Facial diplegia (that is, bilateral facial palsy) with congenital onset.
HP:0007190	Neuronal loss in the cerebral cortex	biolink:PhenotypicFeature	hp	UMLS:C1849485			http://purl.obolibrary.org/obo/HP_0007190	
HP:0007193	Bilateral tonic-clonic seizure on awakening	biolink:PhenotypicFeature	hp	UMLS:C1847165		Morning generalized tonic-clonic seizures|Generalised tonic-clonic seizures on awakening|Generalized tonic-clonic seizures on awakening	http://purl.obolibrary.org/obo/HP_0007193	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	biolink:PhenotypicFeature	hp	UMLS:C0747251			http://purl.obolibrary.org/obo/HP_0007199	
HP:0007200	Episodic hypersomnia	biolink:PhenotypicFeature	hp	UMLS:C4024925			http://purl.obolibrary.org/obo/HP_0007200	
HP:0007201	Cerebral artery atherosclerosis	biolink:PhenotypicFeature	hp	UMLS:C4024924		Plaque build-up in cerebral artery	http://purl.obolibrary.org/obo/HP_0007201	Atherosclerosis (HP:0002621) of a cerebral artery.
HP:0007204	Diffuse white matter abnormalities	biolink:PhenotypicFeature	hp	UMLS:C4024923			http://purl.obolibrary.org/obo/HP_0007204	
HP:0007206	Hemimegalencephaly	biolink:PhenotypicFeature	hp	MSH:D065705|SNOMEDCT_US:253170008|UMLS:C0431391			http://purl.obolibrary.org/obo/HP_0007206	Enlargement of all or parts of one cerebral hemisphere.
HP:0007207	Photosensitive tonic-clonic seizure	biolink:PhenotypicFeature	hp	UMLS:C1846131		Photosensitive tonic-clonic seizures|Photically induced tonic-clonic seizure|Seizures, tonic-clonic, photosensitive	http://purl.obolibrary.org/obo/HP_0007207	Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.
HP:0007208	Irregular myelin loops	biolink:PhenotypicFeature	hp	UMLS:C4024922			http://purl.obolibrary.org/obo/HP_0007208	Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.
HP:0007209	Facial paralysis	biolink:PhenotypicFeature	hp	MSH:D005158|SNOMEDCT_US:280816001|SNOMEDCT_US:95666008|UMLS:C0015469|UMLS:C0427055	hposlim_core	Facial paralysis|Facial paresis	http://purl.obolibrary.org/obo/HP_0007209	Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
HP:0007210	Lower limb amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C4024921			http://purl.obolibrary.org/obo/HP_0007210	Muscular atrophy affecting the lower limb.
HP:0007215	Periodic hyperkalemic paralysis	biolink:PhenotypicFeature	hp	MSH:D020513|SNOMEDCT_US:304737009|UMLS:C0238357		Hyperkalemic periodic paralysis	http://purl.obolibrary.org/obo/HP_0007215	Episodes of muscle weakness associated with elevated levels of potassium in the blood.
HP:0007220	Demyelinating motor neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1969462			http://purl.obolibrary.org/obo/HP_0007220	Demyelination of peripheral motor nerves.
HP:0007221	Progressive truncal ataxia	biolink:PhenotypicFeature	hp	UMLS:C1849143			http://purl.obolibrary.org/obo/HP_0007221	
HP:0007227	Macrogyria	biolink:PhenotypicFeature	hp	MSH:D054082|SNOMEDCT_US:23024003|UMLS:C0266483			http://purl.obolibrary.org/obo/HP_0007227	Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.
HP:0007229	Intracerebral periventricular calcifications	biolink:PhenotypicFeature	hp	UMLS:C1837246			http://purl.obolibrary.org/obo/HP_0007229	The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.
HP:0007230	Decreased distal sensory nerve action potential	biolink:PhenotypicFeature	hp	UMLS:C4024920			http://purl.obolibrary.org/obo/HP_0007230	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	biolink:PhenotypicFeature	hp	UMLS:C4024919			http://purl.obolibrary.org/obo/HP_0007232	
HP:0007233	Clusters of axonal regeneration	biolink:PhenotypicFeature	hp	UMLS:C1843169			http://purl.obolibrary.org/obo/HP_0007233	Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.
HP:0007236	Recurrent subcortical infarcts	biolink:PhenotypicFeature	hp	UMLS:C4024918			http://purl.obolibrary.org/obo/HP_0007236	
HP:0007238	Nonarteriosclerotic cerebral calcification	biolink:PhenotypicFeature	hp	UMLS:C4021579		Cerebral calcification, nonarteriosclerotic	http://purl.obolibrary.org/obo/HP_0007238	
HP:0007239	Congenital encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C4024917			http://purl.obolibrary.org/obo/HP_0007239	
HP:0007240	Progressive gait ataxia	biolink:PhenotypicFeature	hp	UMLS:C1843885		Gait ataxia, progressive	http://purl.obolibrary.org/obo/HP_0007240	A type of gait ataxia displaying progression of clinical severity.
HP:0007249	Decreased number of small peripheral myelinated nerve fibers	biolink:PhenotypicFeature	hp	UMLS:C4024916		Decreased number of small peripheral myelinated nerve fibres	http://purl.obolibrary.org/obo/HP_0007249	
HP:0007250	Recurrent external ophthalmoplegia	biolink:PhenotypicFeature	hp	UMLS:C4024915			http://purl.obolibrary.org/obo/HP_0007250	Alternating and recurrent weakness of the external ocular muscles.
HP:0007256	Abnormal pyramidal sign	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14648003|UMLS:C0234132		Corticospinal signs|Pyramidal signs|Pyramidal tract signs	http://purl.obolibrary.org/obo/HP_0007256	Functional neurological abnormalities related to dysfunction of the pyramidal tract.
HP:0007258	Severe demyelination of the white matter	biolink:PhenotypicFeature	hp	UMLS:C1856001			http://purl.obolibrary.org/obo/HP_0007258	A severe loss of myelin from nerve fibers in the central nervous system.
HP:0007260	Type II lissencephaly	biolink:PhenotypicFeature	hp	MSH:D054222|SNOMEDCT_US:253149002|UMLS:C0431376		Cobblestone lissencephaly|Lissencephaly type II|Type 2 lissencephaly	http://purl.obolibrary.org/obo/HP_0007260	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	biolink:PhenotypicFeature	hp	UMLS:C4024914			http://purl.obolibrary.org/obo/HP_0007262	A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0007263	Spinocerebellar atrophy	biolink:PhenotypicFeature	hp	MSH:D020754|SNOMEDCT_US:129609000|UMLS:C0087012			http://purl.obolibrary.org/obo/HP_0007263	Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.
HP:0007265	Absent mesencephalon	biolink:PhenotypicFeature	hp	UMLS:C4024913			http://purl.obolibrary.org/obo/HP_0007265	Agenesis of the midbrain.
HP:0007266	Cerebral dysmyelination	biolink:PhenotypicFeature	hp	UMLS:C1854885|UMLS:C4020810		Areas of dysmyelination on MRI|Dysmyelination of the brain|White matter dysmyelination/demyelination	http://purl.obolibrary.org/obo/HP_0007266	Defective structure and function of myelin sheaths of the white matter of the brain.
HP:0007267	Chronic axonal neuropathy	biolink:PhenotypicFeature	hp	UMLS:C4021578		Chronic sural axonal neuropathy	http://purl.obolibrary.org/obo/HP_0007267	An abnormality characterized by chronic impairment of the normal functioning of the axons.
HP:0007268	Aprosencephaly	biolink:PhenotypicFeature	hp	MSH:D000757|SNOMEDCT_US:277922001|UMLS:C0431349			http://purl.obolibrary.org/obo/HP_0007268	
HP:0007269	Spinal muscular atrophy	biolink:PhenotypicFeature	hp	MSH:D009134|SNOMEDCT_US:5262007|UMLS:C0026847		Spinal muscle degeneration|Spinal muscle wasting	http://purl.obolibrary.org/obo/HP_0007269	Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
HP:0007270	Atypical absence seizure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:23374007|UMLS:C0595948		Atypical absence seizures|Atypical petit mal seizures|Atypical absence	http://purl.obolibrary.org/obo/HP_0007270	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	biolink:PhenotypicFeature	hp	UMLS:C4024912			http://purl.obolibrary.org/obo/HP_0007271	
HP:0007272	Progressive psychomotor deterioration	biolink:PhenotypicFeature	hp	UMLS:C1856565		Progressive mental and motor deterioration	http://purl.obolibrary.org/obo/HP_0007272	
HP:0007274	Recurrent bacterial meningitis	biolink:PhenotypicFeature	hp	UMLS:C1845604			http://purl.obolibrary.org/obo/HP_0007274	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	biolink:PhenotypicFeature	hp	UMLS:C2673351			http://purl.obolibrary.org/obo/HP_0007277	
HP:0007280	Acute infantile spinal muscular atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024911			http://purl.obolibrary.org/obo/HP_0007280	
HP:0007281	Developmental stagnation	biolink:PhenotypicFeature	hp	UMLS:C1848980		Developmental arrest	http://purl.obolibrary.org/obo/HP_0007281	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	biolink:PhenotypicFeature	hp	UMLS:C1849260		Facial palsy caused by enlargement of cranial bones|Facial palsy caused by excessive growth of facial bones|Facial palsy caused by overgrowth of cranial bones|Facial palsy secondary to hypertrophy of cranial bones	http://purl.obolibrary.org/obo/HP_0007285	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	biolink:PhenotypicFeature	hp	UMLS:C4024910			http://purl.obolibrary.org/obo/HP_0007286	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	biolink:PhenotypicFeature	hp	UMLS:C1854657		Limb fasciculation	http://purl.obolibrary.org/obo/HP_0007289	Fasciculations affecting the musculature of the arms and legs.
HP:0007291	Posterior fossa cyst	biolink:PhenotypicFeature	hp	UMLS:C1857353			http://purl.obolibrary.org/obo/HP_0007291	A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.
HP:0007293	Anterior sacral meningocele	biolink:PhenotypicFeature	hp	UMLS:C1867776			http://purl.obolibrary.org/obo/HP_0007293	
HP:0007295	Chaotic rapid conjugate ocular movements	biolink:PhenotypicFeature	hp	UMLS:C4024909			http://purl.obolibrary.org/obo/HP_0007295	
HP:0007299	Dysfunction of lateral corticospinal tracts	biolink:PhenotypicFeature	hp	UMLS:C1832671			http://purl.obolibrary.org/obo/HP_0007299	
HP:0007301	Oromotor apraxia	biolink:PhenotypicFeature	hp	UMLS:C4021845			http://purl.obolibrary.org/obo/HP_0007301	
HP:0007302	Bipolar affective disorder	biolink:PhenotypicFeature	hp	MSH:D001714|SNOMEDCT_US:13746004|UMLS:C0005586		Bipolar disorder	http://purl.obolibrary.org/obo/HP_0007302	
HP:0007305	CNS demyelination	biolink:PhenotypicFeature	hp	UMLS:C0338474		Demyelination in central white matter	http://purl.obolibrary.org/obo/HP_0007305	A loss of myelin from nerve fibers in the central nervous system.
HP:0007307	Rapid neurologic deterioration	biolink:PhenotypicFeature	hp	UMLS:C4024908			http://purl.obolibrary.org/obo/HP_0007307	
HP:0007308	Extrapyramidal dyskinesia	biolink:PhenotypicFeature	hp	UMLS:C1848528			http://purl.obolibrary.org/obo/HP_0007308	
HP:0007311	Short stepped shuffling gait	biolink:PhenotypicFeature	hp	UMLS:C3805715		Short stepped shuffling walk	http://purl.obolibrary.org/obo/HP_0007311	
HP:0007313	Cerebral degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671		Neuroaxonal degeneration in the brain	http://purl.obolibrary.org/obo/HP_0007313	
HP:0007314	obsolete White matter neuronal heterotopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007314	
HP:0007316	obsolete Involuntary writhing movements	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007316	
HP:0007321	Deep white matter hypodensities	biolink:PhenotypicFeature	hp	UMLS:C1856979		Deep cerebral white matter hypodensities	http://purl.obolibrary.org/obo/HP_0007321	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.
HP:0007325	Generalized dystonia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:425492002|UMLS:C1848954		Generalised dystonia	http://purl.obolibrary.org/obo/HP_0007325	A type of dystonia that affects all or most of the body.
HP:0007326	Progressive choreoathetosis	biolink:PhenotypicFeature	hp	UMLS:C1860216			http://purl.obolibrary.org/obo/HP_0007326	
HP:0007327	Mixed demyelinating and axonal polyneuropathy	biolink:PhenotypicFeature	hp	UMLS:C4024907			http://purl.obolibrary.org/obo/HP_0007327	
HP:0007328	Impaired pain sensation	biolink:PhenotypicFeature	hp	UMLS:C1837522		Decreased pain sensation|Impaired pain sensation|Decreased pinprick sensation	http://purl.obolibrary.org/obo/HP_0007328	Reduced ability to perceive painful stimuli.
HP:0007330	Frontal encephalocele	biolink:PhenotypicFeature	hp	MSH:D004677|SNOMEDCT_US:253103006|UMLS:C0431289			http://purl.obolibrary.org/obo/HP_0007330	
HP:0007332	Focal hemifacial clonic seizure	biolink:PhenotypicFeature	hp	UMLS:C4024906		Hemifacial seizures	http://purl.obolibrary.org/obo/HP_0007332	Focal seizure characterized at onset by clonic movements affecting half of the face.
HP:0007333	Hypoplasia of the frontal lobes	biolink:PhenotypicFeature	hp	UMLS:C1849172		Underdeveloped frontal lobe|Frontal lobe hypoplasia|Hypoplastic frontal lobes	http://purl.obolibrary.org/obo/HP_0007333	Underdevelopment of the frontal lobe of the cerebrum.
HP:0007334	Bilateral tonic-clonic seizure with focal onset	biolink:PhenotypicFeature	hp	UMLS:C0877017		Generalized tonic-clonic seizures with focal onset|Generalised tonic-clonic seizures with focal onset|'Generalised' tonic-clonic seizure with focal onset|'Generalised' tonic-clonic seizure with partial onset|'Generalized' tonic-clonic seizure with focal onset|'Generalized' tonic-clonic seizure with partial onset|Focal seizure with secondary generalisation|Focal seizure with secondary generalization|Focal to bilateral tonic-clonic seizure|Partial seizure with secondary generalisation|Partial seizure with secondary generalization|Partial seizures with secondary generalization|Secondarily generalised tonic-clonic seizure|Secondarily generalised tonic-clonic seizures|Secondarily generalized tonic-clonic seizure|Secondary generalized tonic clonic seizures|Secondary generalized tonic-clonic seizures	http://purl.obolibrary.org/obo/HP_0007334	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	biolink:PhenotypicFeature	hp	UMLS:C1850719		Recurrent cerebellar and extrapyramidal encephalopathy	http://purl.obolibrary.org/obo/HP_0007335	Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.
HP:0007338	Hypermetric saccades	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246769000|UMLS:C0423083			http://purl.obolibrary.org/obo/HP_0007338	A saccade that overshoots the target with the dynamic saccade.
HP:0007340	Lower limb muscle weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249945007|UMLS:C0427068|UMLS:C1836296		Lower extremity weakness|Lower limb muscle weakness|Lower limb weakness|Muscle weakness in lower limbs|Leg weakness	http://purl.obolibrary.org/obo/HP_0007340	Weakness of the muscles of the legs.
HP:0007341	Diffuse swelling of cerebral white matter	biolink:PhenotypicFeature	hp	UMLS:C1858855			http://purl.obolibrary.org/obo/HP_0007341	
HP:0007343	Abnormal morphology of the limbic system	biolink:PhenotypicFeature	hp	UMLS:C1863392		Limbic malformation	http://purl.obolibrary.org/obo/HP_0007343	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	biolink:PhenotypicFeature	hp	UMLS:C1843858		Atrophic and degenerative changes in the spinal cord	http://purl.obolibrary.org/obo/HP_0007344	
HP:0007346	Subcortical white matter calcifications	biolink:PhenotypicFeature	hp	UMLS:C1851430			http://purl.obolibrary.org/obo/HP_0007346	
HP:0007348	Hypoplasia of the pyramidal tract	biolink:PhenotypicFeature	hp	UMLS:C1850871			http://purl.obolibrary.org/obo/HP_0007348	
HP:0007350	Hyperreflexia in upper limbs	biolink:PhenotypicFeature	hp	UMLS:C1843175			http://purl.obolibrary.org/obo/HP_0007350	
HP:0007351	Upper limb postural tremor	biolink:PhenotypicFeature	hp	UMLS:C1867138		Postural tremor of arms	http://purl.obolibrary.org/obo/HP_0007351	A type of tremors that is triggered by holding an arm in a fixed position.
HP:0007352	Cerebellar calcifications	biolink:PhenotypicFeature	hp	UMLS:C1851431			http://purl.obolibrary.org/obo/HP_0007352	
HP:0007354	Amyotrophic lateral sclerosis	biolink:PhenotypicFeature	hp	MSH:D000690|SNOMEDCT_US:86044005|UMLS:C0002736		Lou Gehrig's disease	http://purl.obolibrary.org/obo/HP_0007354	
HP:0007359	Focal-onset seizure	biolink:PhenotypicFeature	hp	MSH:D012640|SNOMEDCT_US:29753000|UMLS:C0751495		Seizure affecting one half of brain|Focal seizures|Focal-onset seizures|Partial seizures|Focal onset seizure|Focal seizure|Partial seizure	http://purl.obolibrary.org/obo/HP_0007359	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	biolink:PhenotypicFeature	hp	UMLS:C3279222		Absent/small cerebellum|Absent/underdeveloped cerebellum|Atrophy/Degeneration affecting the cerebellum|Atrophy/Hypoplasia of the cerebellum|Cerebellar hypoplasia/atrophy	http://purl.obolibrary.org/obo/HP_0007360	
HP:0007361	Abnormality of the pons	biolink:PhenotypicFeature	hp	UMLS:C4024905			http://purl.obolibrary.org/obo/HP_0007361	An abnormality of the pons.
HP:0007362	Aplasia/Hypoplasia of the brainstem	biolink:PhenotypicFeature	hp	UMLS:C4024904		Absent/small brainstem|Absent/underdeveloped brainstem	http://purl.obolibrary.org/obo/HP_0007362	
HP:0007363	Aplasia/Hypoplasia of the pyramidal tract	biolink:PhenotypicFeature	hp	UMLS:C4024903			http://purl.obolibrary.org/obo/HP_0007363	
HP:0007364	Aplasia/Hypoplasia of the cerebrum	biolink:PhenotypicFeature	hp	UMLS:C4024902		Absent/small cerebrum|Absent/underdeveloped cerebrum	http://purl.obolibrary.org/obo/HP_0007364	
HP:0007365	Aplasia/Hypoplasia involving the corticospinal tracts	biolink:PhenotypicFeature	hp	UMLS:C4024901			http://purl.obolibrary.org/obo/HP_0007365	
HP:0007366	Atrophy/Degeneration affecting the brainstem	biolink:PhenotypicFeature	hp	UMLS:C4024900		Brainstem atrophy	http://purl.obolibrary.org/obo/HP_0007366	
HP:0007367	Atrophy/Degeneration affecting the central nervous system	biolink:PhenotypicFeature	hp	UMLS:C4024899		Atrophy/Degeneration affecting the CNS	http://purl.obolibrary.org/obo/HP_0007367	
HP:0007369	Atrophy/Degeneration affecting the cerebrum	biolink:PhenotypicFeature	hp	UMLS:C4024898			http://purl.obolibrary.org/obo/HP_0007369	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	biolink:PhenotypicFeature	hp	UMLS:C1861866		Absent/hypoplastic corpus callosum|Agenesis/hypoplastic corpus callosum|Complete or partial absence of the corpus callosum|Hypoplasia or absence of the corpus callosum|Hypoplastic or absent corpus callosum	http://purl.obolibrary.org/obo/HP_0007370	Absence or underdevelopment of the corpus callosum.
HP:0007371	Corpus callosum atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253142006|UMLS:C0431370		Atrophic corpus callosum|Atrophy of the corpus callosum|Atrophy/Degeneration of the corpus callosum	http://purl.obolibrary.org/obo/HP_0007371	The presence of atrophy (wasting) of the corpus callosum.
HP:0007372	Atrophy/Degeneration involving the corticospinal tracts	biolink:PhenotypicFeature	hp	UMLS:C4024897			http://purl.obolibrary.org/obo/HP_0007372	
HP:0007373	Motor neuron atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024896		Motor neuron degeneration	http://purl.obolibrary.org/obo/HP_0007373	Wasting involving the motor neuron.
HP:0007374	Atrophy/Degeneration involving the caudate nucleus	biolink:PhenotypicFeature	hp	UMLS:C4024895			http://purl.obolibrary.org/obo/HP_0007374	
HP:0007375	Abnormality of the septum pellucidum	biolink:PhenotypicFeature	hp	UMLS:C4024894			http://purl.obolibrary.org/obo/HP_0007375	An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.
HP:0007376	Abnormality of the choroid plexus	biolink:PhenotypicFeature	hp	UMLS:C4024893			http://purl.obolibrary.org/obo/HP_0007376	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	biolink:PhenotypicFeature	hp	UMLS:C4021577		Abnormality of SSEPs	http://purl.obolibrary.org/obo/HP_0007377	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	biolink:PhenotypicFeature	hp	MSH:D005770|NCIT:C3262|SNOMEDCT_US:126768004|UMLS:C0017185		Neoplasm of the GI tract|GI tract tumor|Gastrointestinal tract tumor|Gastrointestinal tract neoplasia|Gastrointestinal tract neoplasm	http://purl.obolibrary.org/obo/HP_0007378	A tumor (abnormal growth of tissue) of the gastrointestinal tract.
HP:0007379	Neoplasm of the genitourinary tract	biolink:PhenotypicFeature	hp	MSH:D014565|NCIT:C3262|UMLS:C0042065|UMLS:C4020809		Neoplasm of the GU tract|Genitourinary tract tumors|Genitourinary tract neoplasm|Genitourinary tract neoplasia	http://purl.obolibrary.org/obo/HP_0007379	A tumor (abnormal growth of tissue) of the genitourinary system.
HP:0007380	Facial telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C0858684		Facial telangiectatic vessels|Telangiectasia, facial	http://purl.obolibrary.org/obo/HP_0007380	Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.
HP:0007381	Congenital exfoliative erythroderma	biolink:PhenotypicFeature	hp	UMLS:C4024892			http://purl.obolibrary.org/obo/HP_0007381	
HP:0007383	Congenital localized absence of skin	biolink:PhenotypicFeature	hp	UMLS:C2673597		Congenital localised absence of skin|Congenital localized skin absence	http://purl.obolibrary.org/obo/HP_0007383	
HP:0007384	Aberrant melanosome maturation	biolink:PhenotypicFeature	hp	UMLS:C1969516			http://purl.obolibrary.org/obo/HP_0007384	
HP:0007385	Aplasia cutis congenita of scalp	biolink:PhenotypicFeature	hp	UMLS:C1855698|UMLS:C4048801|UMLS:C4072857|UMLS:C4072858	hposlim_core	Focal absence of scalp tissue|Defect of scalp|Scalp defect|Solitary scalp defect|Scalp aplasia cutis congenita	http://purl.obolibrary.org/obo/HP_0007385	A developmental defect resulting in the congenital absence of skin on the scalp.
HP:0007387	Hypoplastic sweat glands	biolink:PhenotypicFeature	hp	UMLS:C1832455		Underdeveloped sweat glands	http://purl.obolibrary.org/obo/HP_0007387	Underdevelopment of the sweat glands.
HP:0007390	Hyperkeratosis with erythema	biolink:PhenotypicFeature	hp	UMLS:C4024891			http://purl.obolibrary.org/obo/HP_0007390	
HP:0007392	Excessive wrinkled skin	biolink:PhenotypicFeature	hp	UMLS:C4024890		Excessive wrinkled skin	http://purl.obolibrary.org/obo/HP_0007392	
HP:0007394	Prominent superficial blood vessels	biolink:PhenotypicFeature	hp	UMLS:C1848771		Prominent superficial blood vessels|Prominent superficial vasculature	http://purl.obolibrary.org/obo/HP_0007394	
HP:0007395	Postnatal-onset ichthyosiform erythroderma	biolink:PhenotypicFeature	hp	UMLS:C4021576		Postnatal-onset ichthyosis	http://purl.obolibrary.org/obo/HP_0007395	A type of ichthyosiform erythroderma with postnatal onset.
HP:0007396	Early cutaneous photosensitivity	biolink:PhenotypicFeature	hp	UMLS:C4024889		Sun sensitivity occurring early in life	http://purl.obolibrary.org/obo/HP_0007396	Photosensitivity of the skin occurring early in life.
HP:0007397	Axillary apocrine gland hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1867003			http://purl.obolibrary.org/obo/HP_0007397	Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.
HP:0007398	Asymmetric, linear skin defects	biolink:PhenotypicFeature	hp	UMLS:C4024888			http://purl.obolibrary.org/obo/HP_0007398	
HP:0007400	Irregular hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C1860236			http://purl.obolibrary.org/obo/HP_0007400	
HP:0007401	Macular atrophy	biolink:PhenotypicFeature	hp	MSH:D057088|SNOMEDCT_US:238828009|UMLS:C1288283			http://purl.obolibrary.org/obo/HP_0007401	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	biolink:PhenotypicFeature	hp	UMLS:C4024886			http://purl.obolibrary.org/obo/HP_0007402	
HP:0007403	Hypertrophy of skin of soles	biolink:PhenotypicFeature	hp	UMLS:C1867617		Thick skin of soles	http://purl.obolibrary.org/obo/HP_0007403	
HP:0007404	Nonepidermolytic palmoplantar keratoderma	biolink:PhenotypicFeature	hp	MSH:C563422|UMLS:C1833030			http://purl.obolibrary.org/obo/HP_0007404	
HP:0007406	Hyperpigmentation of eyelids	biolink:PhenotypicFeature	hp	MSH:C562400|SNOMEDCT_US:41115008|UMLS:C0155211|UMLS:C0854438|UMLS:C4280440		Dark eyelids|Brown eyelids|Pigmentation of eyelids	http://purl.obolibrary.org/obo/HP_0007406	
HP:0007407	Excessive skin wrinkling on dorsum of hands and fingers	biolink:PhenotypicFeature	hp	UMLS:C1837467		Excessive skin wrinkling on back of hands and fingers	http://purl.obolibrary.org/obo/HP_0007407	
HP:0007408	Tegumentary leishmaniasis susceptibility	biolink:PhenotypicFeature	hp	UMLS:C2748501			http://purl.obolibrary.org/obo/HP_0007408	Increased susceptibility to infection by the protozan parasite of the genus Leishmania.
HP:0007409	obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007409	
HP:0007410	Palmoplantar hyperhidrosis	biolink:PhenotypicFeature	hp	MSH:C563185|SNOMEDCT_US:403375001|UMLS:C1274743		Excessive sweating of palms and soles|Hyperhidrosis of palms and soles	http://purl.obolibrary.org/obo/HP_0007410	An abnormally increased perspiration on palms and soles.
HP:0007411	Hypoplastic-absent sebaceous glands	biolink:PhenotypicFeature	hp	UMLS:C1844617			http://purl.obolibrary.org/obo/HP_0007411	
HP:0007412	Macular hyperpigmented dermopathy	biolink:PhenotypicFeature	hp	UMLS:C4024885			http://purl.obolibrary.org/obo/HP_0007412	
HP:0007413	Nevus flammeus of the forehead	biolink:PhenotypicFeature	hp	UMLS:C1848850		Port-wine stain on forehead	http://purl.obolibrary.org/obo/HP_0007413	Naevus flammeus localised in the skin of the forehead.
HP:0007414	Neonatal wrinkled skin of hands and feet	biolink:PhenotypicFeature	hp	UMLS:C4024884		Wrinkled skin of hands and feet in newborn	http://purl.obolibrary.org/obo/HP_0007414	
HP:0007417	Discoid lupus rash	biolink:PhenotypicFeature	hp	MSH:D008179|SNOMEDCT_US:200938002|SNOMEDCT_US:238927000|UMLS:C0024138		Discoid lupus erythematosus	http://purl.obolibrary.org/obo/HP_0007417	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19754005|UMLS:C0263504		Total alopecia	http://purl.obolibrary.org/obo/HP_0007418	Loss of all scalp hair.
HP:0007420	Spontaneous hematomas	biolink:PhenotypicFeature	hp	UMLS:C1697453			http://purl.obolibrary.org/obo/HP_0007420	Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
HP:0007421	Telangiectases of the cheeks	biolink:PhenotypicFeature	hp	UMLS:C3554587		Telangiectasia on the cheeks	http://purl.obolibrary.org/obo/HP_0007421	Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.
HP:0007425	Hyperextensible skin of face	biolink:PhenotypicFeature	hp	UMLS:C4024883		Hyperelastic face skin|Stretchable face skin	http://purl.obolibrary.org/obo/HP_0007425	
HP:0007427	Reticulated skin pigmentation	biolink:PhenotypicFeature	hp	UMLS:C3279575|UMLS:C3279601		Reticular pigmentation pattern|Reticulate skin pigmentation	http://purl.obolibrary.org/obo/HP_0007427	
HP:0007428	Telangiectasia of the oral mucosa	biolink:PhenotypicFeature	hp	UMLS:C4024882		Spider veins of the oral mucosa|Angioectasia of the oral mucosa|Angioectasia of the oral mucous membrane|Telangiectasia of the oral mucous membrane	http://purl.obolibrary.org/obo/HP_0007428	Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.
HP:0007429	Few cafe-au-lait spots	biolink:PhenotypicFeature	hp	UMLS:C4024881			http://purl.obolibrary.org/obo/HP_0007429	The presence of two to five cafe-au-lait macules.
HP:0007430	Generalized edema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271808008|UMLS:C1850534		Generalised oedema|Generalized tissue edema	http://purl.obolibrary.org/obo/HP_0007430	Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
HP:0007431	Congenital ichthyosiform erythroderma	biolink:PhenotypicFeature	hp	MSH:D016113|SNOMEDCT_US:254156001|SNOMEDCT_US:268282005|UMLS:C0079583		Congenital ichthyosis|Ichthyosis, congenital	http://purl.obolibrary.org/obo/HP_0007431	An ichthyosiform abnormality of the skin with congenital onset.
HP:0007432	Intermittent generalized erythematous papular rash	biolink:PhenotypicFeature	hp	UMLS:C2749995		Intermittent generalised erythematous papular rash	http://purl.obolibrary.org/obo/HP_0007432	
HP:0007434	Plaque-like facial hemangioma	biolink:PhenotypicFeature	hp	UMLS:C1847884		Hemangioma, facial, plaque-like	http://purl.obolibrary.org/obo/HP_0007434	Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.
HP:0007435	Diffuse palmoplantar keratoderma	biolink:PhenotypicFeature	hp	MSH:D015776|SNOMEDCT_US:400123002|UMLS:C0022584			http://purl.obolibrary.org/obo/HP_0007435	
HP:0007436	Hair-nail ectodermal dysplasia	biolink:PhenotypicFeature	hp	UMLS:C4024880			http://purl.obolibrary.org/obo/HP_0007436	
HP:0007437	Multiple cutaneous leiomyomas	biolink:PhenotypicFeature	hp	MSH:C535516|NCIT:C3157|UMLS:C1708350			http://purl.obolibrary.org/obo/HP_0007437	The presence of multiple leiomyomas of the skin.
HP:0007438	Mottled pigmentation of the trunk and proximal extremities	biolink:PhenotypicFeature	hp	UMLS:C1851551			http://purl.obolibrary.org/obo/HP_0007438	
HP:0007439	Generalized keratosis follicularis	biolink:PhenotypicFeature	hp	UMLS:C4024879		Generalised keratosis follicularis	http://purl.obolibrary.org/obo/HP_0007439	
HP:0007440	Generalized hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024878		Generalised hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007440	
HP:0007441	Hyperpigmented/hypopigmented macules	biolink:PhenotypicFeature	hp	UMLS:C4024877			http://purl.obolibrary.org/obo/HP_0007441	
HP:0007443	Partial albinism	biolink:PhenotypicFeature	hp	MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024		Partial absent skin pigmentation|Congenital partial albinism on face, trunk, or limbs|Congenital partial leucoderma	http://purl.obolibrary.org/obo/HP_0007443	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	biolink:PhenotypicFeature	hp	UMLS:C4024876			http://purl.obolibrary.org/obo/HP_0007446	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	biolink:PhenotypicFeature	hp	UMLS:C4021575		Hyperkeratosis, diffuse palmoplantar	http://purl.obolibrary.org/obo/HP_0007447	
HP:0007448	Hyperkeratosis over edematous areas	biolink:PhenotypicFeature	hp	UMLS:C1835253			http://purl.obolibrary.org/obo/HP_0007448	
HP:0007449	Confetti-like hypopigmented macules	biolink:PhenotypicFeature	hp	UMLS:C1851705			http://purl.obolibrary.org/obo/HP_0007449	
HP:0007450	Increased groin pigmentation with raindrop depigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024875			http://purl.obolibrary.org/obo/HP_0007450	
HP:0007451	Ipsilateral lack of facial sweating	biolink:PhenotypicFeature	hp	UMLS:C4024874			http://purl.obolibrary.org/obo/HP_0007451	
HP:0007452	Midface capillary hemangioma	biolink:PhenotypicFeature	hp	UMLS:C1849377		Midfacial capillary hemangioma	http://purl.obolibrary.org/obo/HP_0007452	
HP:0007453	Flexural lichenification	biolink:PhenotypicFeature	hp	UMLS:C4024873			http://purl.obolibrary.org/obo/HP_0007453	Lichenification affecting primarily flexural areas of the skin.
HP:0007455	Adermatoglyphia	biolink:PhenotypicFeature	hp	MSH:C565010|UMLS:C1852150			http://purl.obolibrary.org/obo/HP_0007455	
HP:0007456	Progressive reticulate hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024872			http://purl.obolibrary.org/obo/HP_0007456	
HP:0007457	Prominent veins on trunk	biolink:PhenotypicFeature	hp	UMLS:C4024871			http://purl.obolibrary.org/obo/HP_0007457	Prominent thoracic and abdominal veins.
HP:0007458	Focal hyperextensible skin	biolink:PhenotypicFeature	hp	UMLS:C4024870			http://purl.obolibrary.org/obo/HP_0007458	
HP:0007459	Generalized anhidrosis	biolink:PhenotypicFeature	hp	UMLS:C4024869		Generalised anhidrosis|Generalized anhydrosis|Generalized inability to sweat	http://purl.obolibrary.org/obo/HP_0007459	
HP:0007460	Autoamputation of digits	biolink:PhenotypicFeature	hp	UMLS:C1852289			http://purl.obolibrary.org/obo/HP_0007460	
HP:0007461	Hemangiomatosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254785001|SNOMEDCT_US:47669001|UMLS:C1384590			http://purl.obolibrary.org/obo/HP_0007461	
HP:0007462	Bitot spots of the conjunctiva	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246871006|UMLS:C0423178|UMLS:C4024868		Bitot's spots	http://purl.obolibrary.org/obo/HP_0007462	Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.
HP:0007464	Sparse facial hair	biolink:PhenotypicFeature	hp	UMLS:C2017869		Sparse facial hair	http://purl.obolibrary.org/obo/HP_0007464	Reduced number or density of facial hair.
HP:0007465	Honeycomb palmoplantar keratoderma	biolink:PhenotypicFeature	hp	UMLS:C1866032			http://purl.obolibrary.org/obo/HP_0007465	
HP:0007466	Midfrontal capillary hemangioma	biolink:PhenotypicFeature	hp	UMLS:C1859339			http://purl.obolibrary.org/obo/HP_0007466	
HP:0007468	Perifollicular hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C4024867	hposlim_core		http://purl.obolibrary.org/obo/HP_0007468	Increased amount of keratin (visible as white scales) surrounding hair follicles.
HP:0007469	Palmoplantar cutis gyrata	biolink:PhenotypicFeature	hp	UMLS:C1851797		Cutis gyrata of palms and soles	http://purl.obolibrary.org/obo/HP_0007469	Cutis gyrata of palms and soles.
HP:0007470	Periarticular subcutaneous nodules	biolink:PhenotypicFeature	hp	UMLS:C3806306			http://purl.obolibrary.org/obo/HP_0007470	Subcutaneous nodules that are located in the vicinity of joints.
HP:0007471	Axillary and groin hyperpigmentation and hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024866			http://purl.obolibrary.org/obo/HP_0007471	
HP:0007473	Crusting erythematous dermatitis	biolink:PhenotypicFeature	hp	UMLS:C1868496			http://purl.obolibrary.org/obo/HP_0007473	
HP:0007475	Congenital bullous ichthyosiform erythroderma	biolink:PhenotypicFeature	hp	MSH:D017488|SNOMEDCT_US:239071005|SNOMEDCT_US:254167000|UMLS:C0079153		Bullous congenital ichthyosiform erythroderma|Epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/HP_0007475	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	biolink:PhenotypicFeature	hp	MSH:D004476|SNOMEDCT_US:7731005|UMLS:C1706004			http://purl.obolibrary.org/obo/HP_0007476	
HP:0007477	Abnormal dermatoglyphics	biolink:PhenotypicFeature	hp	SNOMEDCT_US:83145004|UMLS:C0432333	hposlim_core	Abnormal fingerprints|Dermatoglyphic abnormalities	http://purl.obolibrary.org/obo/HP_0007477	An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
HP:0007479	Congenital nonbullous ichthyosiform erythroderma	biolink:PhenotypicFeature	hp	MSH:D017490|SNOMEDCT_US:205550003|SNOMEDCT_US:267372009|SNOMEDCT_US:268245001|UMLS:C0079154		Collodion baby|Congenital lamellar ichthyosis|Congenital non-bullous ichthyosis|Ichthyosis lammellaris|Ichthyosis, congenital, nonblistering|Nonbullous congenital ichthyosiform erythroderma|Nonbullous congenital ichthyosis	http://purl.obolibrary.org/obo/HP_0007479	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	biolink:PhenotypicFeature	hp	UMLS:C1868527			http://purl.obolibrary.org/obo/HP_0007480	
HP:0007481	Hyperpigmented nevi	biolink:PhenotypicFeature	hp	UMLS:C0746889			http://purl.obolibrary.org/obo/HP_0007481	
HP:0007482	Generalized papillary lesions	biolink:PhenotypicFeature	hp	UMLS:C4024865		Generalised papillary lesions	http://purl.obolibrary.org/obo/HP_0007482	
HP:0007483	Depigmentation/hyperpigmentation of skin	biolink:PhenotypicFeature	hp	UMLS:C4024864			http://purl.obolibrary.org/obo/HP_0007483	
HP:0007485	Absence of subcutaneous fat	biolink:PhenotypicFeature	hp	UMLS:C0241267|UMLS:C4024855		Absent fat below the skin|Lack of fatty tissue below the skin|General absence of subcutaneous fat	http://purl.obolibrary.org/obo/HP_0007485	Lack of subcutaneous adipose tissue.
HP:0007486	Cavernous hemangioma of the face	biolink:PhenotypicFeature	hp	NCIT:C3086|UMLS:C1332863			http://purl.obolibrary.org/obo/HP_0007486	
HP:0007488	Diffuse skin atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024863			http://purl.obolibrary.org/obo/HP_0007488	
HP:0007489	Diffuse telangiectasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:125279001|UMLS:C1265776		Diffuse telangiectases|Telangiectases, random body distribution	http://purl.obolibrary.org/obo/HP_0007489	Telangiectases (small dilated blood vessels) with a diffuse localization.
HP:0007490	Linear arrays of macular hyperkeratoses in flexural areas	biolink:PhenotypicFeature	hp	UMLS:C1866031			http://purl.obolibrary.org/obo/HP_0007490	
HP:0007494	Discrete 2 to 5-mm hyper- and hypopigmented macules	biolink:PhenotypicFeature	hp	UMLS:C1851552			http://purl.obolibrary.org/obo/HP_0007494	
HP:0007495	Prematurely aged appearance	biolink:PhenotypicFeature	hp	UMLS:C1857656		Precociously senile appearance|Prematurely aged appearance	http://purl.obolibrary.org/obo/HP_0007495	
HP:0007497	Focal friction-related palmoplantar hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C1835654		Hyperkeratosis, palmoplantar, focal friction-related	http://purl.obolibrary.org/obo/HP_0007497	Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.
HP:0007499	Recurrent staphylococcal infections	biolink:PhenotypicFeature	hp	UMLS:C4024862		Recurrent staphylococcal infections	http://purl.obolibrary.org/obo/HP_0007499	Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.
HP:0007500	Decreased number of sweat glands	biolink:PhenotypicFeature	hp	UMLS:C4021574		Decreased sweat glands|Decreased sweat pores	http://purl.obolibrary.org/obo/HP_0007500	The presence of fewer than normal sweat glands.
HP:0007501	Streaks of hyperkeratosis along each finger onto the palm	biolink:PhenotypicFeature	hp	UMLS:C4024861			http://purl.obolibrary.org/obo/HP_0007501	
HP:0007502	Follicular hyperkeratosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:238629004|SNOMEDCT_US:402341008|SNOMEDCT_US:81845009|UMLS:C0334013	hposlim_core	Hyperkeratosis follicularis	http://purl.obolibrary.org/obo/HP_0007502	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	biolink:PhenotypicFeature	hp	UMLS:C3552528		Generalised ichthyosis	http://purl.obolibrary.org/obo/HP_0007503	
HP:0007504	Diffuse slow skin atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024860			http://purl.obolibrary.org/obo/HP_0007504	
HP:0007505	Progressive hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024859			http://purl.obolibrary.org/obo/HP_0007505	
HP:0007506	Congenital absence of skin of limbs	biolink:PhenotypicFeature	hp	UMLS:C4024858		Missing skin on limbs since birth	http://purl.obolibrary.org/obo/HP_0007506	
HP:0007508	Punctate palmar hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C4024857			http://purl.obolibrary.org/obo/HP_0007508	Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.
HP:0007509	Patchy hypo- and hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4021573		Patchy hypo- and hyper-pigmentation	http://purl.obolibrary.org/obo/HP_0007509	
HP:0007510	Focal dermal aplasia/hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1834069			http://purl.obolibrary.org/obo/HP_0007510	
HP:0007511	Mottled pigmentation of photoexposed areas	biolink:PhenotypicFeature	hp	UMLS:C3151964			http://purl.obolibrary.org/obo/HP_0007511	
HP:0007513	Generalized hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C1849923	hposlim_core	Fair skin|Pale pigmentation|Generalised hypopigmentation	http://purl.obolibrary.org/obo/HP_0007513	
HP:0007514	Edema of the dorsum of hands	biolink:PhenotypicFeature	hp	MEDDRA:10058204|SNOMEDCT_US:443710002|UMLS:C2732374|UMLS:C2751873		Oedema of the dorsum of hands|Edema of dorsum of hands	http://purl.obolibrary.org/obo/HP_0007514	An abnormal accumulation of fluid beneath the skin on the back of the hands.
HP:0007515	Hypoplastic pilosebaceous units	biolink:PhenotypicFeature	hp	UMLS:C1832454			http://purl.obolibrary.org/obo/HP_0007515	
HP:0007516	Redundant skin on fingers	biolink:PhenotypicFeature	hp	UMLS:C4024856		Extra skin on fingers	http://purl.obolibrary.org/obo/HP_0007516	Loose and sagging skin of the fingers.
HP:0007517	Palmoplantar cutis laxa	biolink:PhenotypicFeature	hp	UMLS:C1856714		Excessive wrinkled skin of palms and soles|Increased wrinkles of palms and soles|Wrinkled palms and soles|Wrinkled skin of hands and feet|Furrowed palms and soles	http://purl.obolibrary.org/obo/HP_0007517	Loose, wrinkled skin of hands and feet.
HP:0007519	obsolete Lack of subcutaneous fatty tissue	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007519	
HP:0007521	Irregular hyperpigmentation of back	biolink:PhenotypicFeature	hp	UMLS:C4024854			http://purl.obolibrary.org/obo/HP_0007521	
HP:0007522	Increased number of skin folds	biolink:PhenotypicFeature	hp	UMLS:C4024853		Increased number of skin folds	http://purl.obolibrary.org/obo/HP_0007522	
HP:0007524	Atypical neurofibromatosis	biolink:PhenotypicFeature	hp	MSH:C537392|UMLS:C0220695			http://purl.obolibrary.org/obo/HP_0007524	
HP:0007525	Yellow subcutaneous tissue covered by thin, scaly skin	biolink:PhenotypicFeature	hp	UMLS:C1850533			http://purl.obolibrary.org/obo/HP_0007525	
HP:0007526	Hypopigmented skin patches on arms	biolink:PhenotypicFeature	hp	UMLS:C4024852		Patchy loss of skin color on arms|Hypopigmented skin patches on arms	http://purl.obolibrary.org/obo/HP_0007526	
HP:0007529	Hidrotic ectodermal dysplasia	biolink:PhenotypicFeature	hp	MSH:D004476|SNOMEDCT_US:54209007|UMLS:C0162361			http://purl.obolibrary.org/obo/HP_0007529	
HP:0007530	Punctate palmoplantar hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C4024851			http://purl.obolibrary.org/obo/HP_0007530	
HP:0007534	Congenital posterior occipital alopecia	biolink:PhenotypicFeature	hp	UMLS:C4024850			http://purl.obolibrary.org/obo/HP_0007534	Loss of hair in the occipital region of the scalp with congenital onset.
HP:0007535	Hypopigmented streaks	biolink:PhenotypicFeature	hp	UMLS:C1866244			http://purl.obolibrary.org/obo/HP_0007535	
HP:0007536	Aplasia cutis congenita of midline scalp vertex	biolink:PhenotypicFeature	hp	UMLS:C4024849			http://purl.obolibrary.org/obo/HP_0007536	
HP:0007537	Severe photosensitivity	biolink:PhenotypicFeature	hp	UMLS:C1849186		Severe sun sensitivity	http://purl.obolibrary.org/obo/HP_0007537	A severe degree of photosensitivity of the skin.
HP:0007541	Frontal cutaneous lipoma	biolink:PhenotypicFeature	hp	NCIT:C3192|UMLS:C1850970			http://purl.obolibrary.org/obo/HP_0007541	Presence of a cutaneous lipoma on the forehead.
HP:0007542	Absent pigmentation of the ventral chest	biolink:PhenotypicFeature	hp	UMLS:C4024848			http://purl.obolibrary.org/obo/HP_0007542	Lack of skin pigmentation (coloring) of the anterior chest.
HP:0007543	Epidermal hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C1848773		Increased thickness of skin epidermis	http://purl.obolibrary.org/obo/HP_0007543	
HP:0007544	Piebaldism	biolink:PhenotypicFeature	hp	MSH:D016116|SNOMEDCT_US:6479008|SNOMEDCT_US:718122005|UMLS:C0080024			http://purl.obolibrary.org/obo/HP_0007544	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 keratosis	biolink:PhenotypicFeature	hp	UMLS:C1855633			http://purl.obolibrary.org/obo/HP_0007545	
HP:0007546	Linear hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C3278658			http://purl.obolibrary.org/obo/HP_0007546	
HP:0007548	Palmoplantar keratosis with erythema and scale	biolink:PhenotypicFeature	hp	UMLS:C1843294			http://purl.obolibrary.org/obo/HP_0007548	
HP:0007549	Desquamation of skin soon after birth	biolink:PhenotypicFeature	hp	UMLS:C1842714			http://purl.obolibrary.org/obo/HP_0007549	
HP:0007550	Hypohidrosis or hyperhidrosis	biolink:PhenotypicFeature	hp	UMLS:C4021831		Lack of sweating or excessive sweating	http://purl.obolibrary.org/obo/HP_0007550	
HP:0007552	Abnormal subcutaneous fat tissue distribution	biolink:PhenotypicFeature	hp	UMLS:C1859347		Abnormal fat tissue distribution below the skin	http://purl.obolibrary.org/obo/HP_0007552	
HP:0007553	Congenital symmetrical palmoplantar keratosis	biolink:PhenotypicFeature	hp	UMLS:C1855459			http://purl.obolibrary.org/obo/HP_0007553	
HP:0007554	Confetti hypopigmentation pattern of lower leg skin	biolink:PhenotypicFeature	hp	UMLS:C4024847		Confetti hypopigmentation pattern of lower leg skin	http://purl.obolibrary.org/obo/HP_0007554	
HP:0007556	Plantar hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C1856954		Plantar hyperkeratoses	http://purl.obolibrary.org/obo/HP_0007556	Hyperkeratosis affecting the sole of the foot.
HP:0007559	Localized epidermolytic hyperkeratosis	biolink:PhenotypicFeature	hp	MSH:D053546|UMLS:C1721006		Localised epidermolytic hyperkeratosis	http://purl.obolibrary.org/obo/HP_0007559	
HP:0007560	Unusual dermatoglyphics	biolink:PhenotypicFeature	hp	UMLS:C4024846			http://purl.obolibrary.org/obo/HP_0007560	
HP:0007561	Telangiectases in sun-exposed and nonexposed skin	biolink:PhenotypicFeature	hp	UMLS:C1868184			http://purl.obolibrary.org/obo/HP_0007561	
HP:0007565	Multiple cafe-au-lait spots	biolink:PhenotypicFeature	hp	MSH:C537421|UMLS:C1861975		Multiple birthmarks|Multiple flat light-brown marks on skin	http://purl.obolibrary.org/obo/HP_0007565	The presence of six or more cafe-au-lait spots.
HP:0007566	Index finger dermatoglyphic radial loop	biolink:PhenotypicFeature	hp	UMLS:C4024845			http://purl.obolibrary.org/obo/HP_0007566	
HP:0007569	Generalized seborrheic dermatitis	biolink:PhenotypicFeature	hp	UMLS:C4024844		Generalised seborrheic dermatitis|Generalized seborrheic eczema	http://purl.obolibrary.org/obo/HP_0007569	Seborrheic dermatitis that is not localized to any one particular region.
HP:0007570	Hyperkeratosis lenticularis perstans	biolink:PhenotypicFeature	hp	MSH:C538377|SNOMEDCT_US:28488007|UMLS:C0263420		Flegel disease	http://purl.obolibrary.org/obo/HP_0007570	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	biolink:PhenotypicFeature	hp	UMLS:C1866245			http://purl.obolibrary.org/obo/HP_0007572	
HP:0007573	Late onset atopic dermatitis	biolink:PhenotypicFeature	hp	UMLS:C4024843|UMLS:C4280439		Late onset baby eczema	http://purl.obolibrary.org/obo/HP_0007573	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	biolink:PhenotypicFeature	hp	UMLS:C2939074|UMLS:C4024842		Bronze skin|Generalised bronze hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007574	
HP:0007576	Palmar neurofibromas	biolink:PhenotypicFeature	hp	UMLS:C4024841			http://purl.obolibrary.org/obo/HP_0007576	
HP:0007581	Mediosternal, longitudinal streak of hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024840			http://purl.obolibrary.org/obo/HP_0007581	
HP:0007583	Telangiectasia macularis eruptiva perstans	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8214000|UMLS:C0263402			http://purl.obolibrary.org/obo/HP_0007583	
HP:0007585	Skin fragility with non-scarring blistering	biolink:PhenotypicFeature	hp	UMLS:C1851562			http://purl.obolibrary.org/obo/HP_0007585	
HP:0007586	Telangiectases producing 'marbled' skin	biolink:PhenotypicFeature	hp	UMLS:C4024839			http://purl.obolibrary.org/obo/HP_0007586	
HP:0007587	Numerous pigmented freckles	biolink:PhenotypicFeature	hp	UMLS:C1968565		Numerous pigmented freckles	http://purl.obolibrary.org/obo/HP_0007587	
HP:0007588	Reticular hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C1851972		Reticulate hyperpigmentation	http://purl.obolibrary.org/obo/HP_0007588	Increased pigmentation of the skin with a netlike (reticular) pattern.
HP:0007589	Aplasia cutis congenita on trunk or limbs	biolink:PhenotypicFeature	hp	UMLS:C1863496			http://purl.obolibrary.org/obo/HP_0007589	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	biolink:PhenotypicFeature	hp	UMLS:C1863495			http://purl.obolibrary.org/obo/HP_0007590	
HP:0007592	Aplasia/Hypoplastia of the eccrine sweat glands	biolink:PhenotypicFeature	hp	UMLS:C1844618		Hypoplastic-absent eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0007592	Absence or developmental hypoplasia of the eccrine sweat glands.
HP:0007595	Redundant skin in infancy	biolink:PhenotypicFeature	hp	UMLS:C1835587		Excess skin in infancy	http://purl.obolibrary.org/obo/HP_0007595	
HP:0007596	Painful subcutaneous lipomas	biolink:PhenotypicFeature	hp	UMLS:C4024838		Painful noncancerous fat tissue tumor under the skin	http://purl.obolibrary.org/obo/HP_0007596	The presence of multiple subcutaneous lipoma that cause pain.
HP:0007597	Congenital palmoplantar keratodermia	biolink:PhenotypicFeature	hp	UMLS:C4024837			http://purl.obolibrary.org/obo/HP_0007597	
HP:0007598	Bilateral single transverse palmar creases	biolink:PhenotypicFeature	hp	UMLS:C1862095			http://purl.obolibrary.org/obo/HP_0007598	The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
HP:0007599	Generalized reticulate brown pigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024836		Generalised reticulate brown pigmentation	http://purl.obolibrary.org/obo/HP_0007599	
HP:0007601	Midline facial capillary hemangioma	biolink:PhenotypicFeature	hp	UMLS:C1840310			http://purl.obolibrary.org/obo/HP_0007601	
HP:0007602	Complex palmar dermatoglyphic pattern	biolink:PhenotypicFeature	hp	UMLS:C4024835			http://purl.obolibrary.org/obo/HP_0007602	
HP:0007603	Freckles in sun-exposed areas	biolink:PhenotypicFeature	hp	UMLS:C1859923		Freckles in sun-exposed areas	http://purl.obolibrary.org/obo/HP_0007603	
HP:0007605	Excessive wrinkling of palmar skin	biolink:PhenotypicFeature	hp	UMLS:C4021572		Redundant, wrinkled skin of palms	http://purl.obolibrary.org/obo/HP_0007605	
HP:0007606	Multiple cutaneous malignancies	biolink:PhenotypicFeature	hp	UMLS:C4024834			http://purl.obolibrary.org/obo/HP_0007606	
HP:0007607	Hypohidrotic ectodermal dysplasia	biolink:PhenotypicFeature	hp	MSH:D053358|SNOMEDCT_US:239007005|SNOMEDCT_US:7731005|UMLS:C0162359			http://purl.obolibrary.org/obo/HP_0007607	
HP:0007608	Abnormal palmar dermal ridges	biolink:PhenotypicFeature	hp	UMLS:C4024833			http://purl.obolibrary.org/obo/HP_0007608	
HP:0007609	Hypoproteinemic edema	biolink:PhenotypicFeature	hp	UMLS:C4024832		Hypoproteinemic oedema	http://purl.obolibrary.org/obo/HP_0007609	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	biolink:PhenotypicFeature	hp	UMLS:C4024831			http://purl.obolibrary.org/obo/HP_0007610	
HP:0007613	Spinous keratoses of palms and soles	biolink:PhenotypicFeature	hp	UMLS:C4024830			http://purl.obolibrary.org/obo/HP_0007613	
HP:0007616	Nevus flammeus nuchae	biolink:PhenotypicFeature	hp	UMLS:C0860468|UMLS:C4024829|UMLS:C4280438		Port-wine stain on neck|Stork bite|Angel's kiss|Salmon patch	http://purl.obolibrary.org/obo/HP_0007616	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	biolink:PhenotypicFeature	hp	UMLS:C4024828			http://purl.obolibrary.org/obo/HP_0007617	
HP:0007618	Subcutaneous calcification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17141001|UMLS:C0263625	hposlim_core	Skin calcification	http://purl.obolibrary.org/obo/HP_0007618	Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
HP:0007620	Cutaneous leiomyoma	biolink:PhenotypicFeature	hp	NCIT:C3157|SNOMEDCT_US:254767008|UMLS:C0346064		Cutaneous leiomyomas|Cutaneous leiomyomata	http://purl.obolibrary.org/obo/HP_0007620	The presence of leiomyoma of the skin.
HP:0007621	Telangiectasia of extensor surfaces	biolink:PhenotypicFeature	hp	UMLS:C4024827			http://purl.obolibrary.org/obo/HP_0007621	
HP:0007623	Pigmentation anomalies of sun-exposed skin	biolink:PhenotypicFeature	hp	UMLS:C4024826		Abnormal pigmentation in sun-exposed skin	http://purl.obolibrary.org/obo/HP_0007623	
HP:0007626	Mandibular osteomyelitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109695005|UMLS:C1290708		Lower jaw bone infection|Osteomyelitis, especially of the mandible	http://purl.obolibrary.org/obo/HP_0007626	Osteomyelitis of the lower jaw.
HP:0007627	Mandibular condyle aplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235119009|UMLS:C0399570|UMLS:C4280429|UMLS:C4280430|UMLS:C4280431|UMLS:C4280432|UMLS:C4280433|UMLS:C4280434|UMLS:C4280435|UMLS:C4280436|UMLS:C4280437		Underdevelopment of condylar process of mandible|Absence of the condylar head of mandible|Absence of the condylar neck of mandible|Absence of the condylar process of mandible|Failure of development of condylar head of mandible|Failure of development of condylar neck of mandible|Failure of development of the condylar process of mandible|Underdevelopment of condylar head of mandible|Underdevelopment of condylar neck of mandible|Agenesis of condylar head of mandible|Agenesis of condylar neck of mandible|Agenesis of condylar process of mandible	http://purl.obolibrary.org/obo/HP_0007627	
HP:0007628	Mandibular condyle hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235120003|UMLS:C0399572|UMLS:C4280423|UMLS:C4280424|UMLS:C4280425|UMLS:C4280426|UMLS:C4280427|UMLS:C4280428		Decreased size of condylar process of mandible|Decreased size of mandibular condyle|Hypoplasia of condylar process of mandible|Hypoplasia of mandibular condyle|Hypoplasia of subcondylar region of mandible|Small mandibular condyle|Hypoplasia of condylar head of mandible|Hypoplasia of condylar neck of mandible|Small condylar head of mandible|Small condylar neck of mandible|Hypotrophic condylar process of mandible|Hypotrophic mandibular condyle	http://purl.obolibrary.org/obo/HP_0007628	
HP:0007633	Bilateral microphthalmos	biolink:PhenotypicFeature	hp	UMLS:C1843496|UMLS:C4280421|UMLS:C4280422		Decreased size of eyeballs|Abnormally small eyeball on both sides|Decreased size of globes of eyes|Microphthalmia, bilateral|Bilateral nanophthalmos	http://purl.obolibrary.org/obo/HP_0007633	A developmental anomaly characterized by abnormal smallness of both eyes.
HP:0007634	Nonarteritic anterior ischemic optic neuropathy	biolink:PhenotypicFeature	hp	UMLS:C1852242		Nonarteritic anterior ischaemic optic neuropathy	http://purl.obolibrary.org/obo/HP_0007634	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	biolink:PhenotypicFeature	hp	UMLS:C0858618		Color blindness|Colour blindness	http://purl.obolibrary.org/obo/HP_0007641	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	biolink:PhenotypicFeature	hp	MSH:C536122|MSH:C537743|SNOMEDCT_US:193687000|SNOMEDCT_US:232061009|UMLS:C0339535|UMLS:C1306122|UMLS:C3551052|UMLS:C4048798		Night blindness since birth|Congenital night blindness|Static congenital hemeralopia|Night blindness, congenital|Night blindness, congenital stationary|Night blindness, congenital stationary, complete|Night blindness, stationary	http://purl.obolibrary.org/obo/HP_0007642	A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
HP:0007643	Peripheral tractional retinal detachment	biolink:PhenotypicFeature	hp	UMLS:C4024825		Peripheral traction retinal detachment|Tractional retinal detachment at the periphery of the retina	http://purl.obolibrary.org/obo/HP_0007643	Tractional retinal detachment at the periphery of the retina.
HP:0007646	Absent lower eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4024824		Absent lower eyelashes|Failure of development of lower eyelashes|Atrichia of lower eyelashes|Agenesis of lower eyelashes|Aplasia of lower eyelashes	http://purl.obolibrary.org/obo/HP_0007646	Lack of eyelashes on the lower lid.
HP:0007647	Congenital extraocular muscle anomaly	biolink:PhenotypicFeature	hp	UMLS:C4024823			http://purl.obolibrary.org/obo/HP_0007647	Congenital abnormality of the extraocular muscles.
HP:0007648	Punctate cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:40714009|UMLS:C0271165|UMLS:C1969675		Punctate lenticular opacities	http://purl.obolibrary.org/obo/HP_0007648	A type of cataract with punctate opacities of the lens.
HP:0007649	Congenital hypertrophy of retinal pigment epithelium	biolink:PhenotypicFeature	hp	SNOMEDCT_US:232074003|UMLS:C0339555			http://purl.obolibrary.org/obo/HP_0007649	Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.
HP:0007650	Progressive ophthalmoplegia	biolink:PhenotypicFeature	hp	UMLS:C2062713			http://purl.obolibrary.org/obo/HP_0007650	
HP:0007651	Ectropion of lower eyelids	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95758006|UMLS:C0521736|UMLS:C4020808		Lower eyelid folded out|Lower eyelid turned out|Everted lower eyelids	http://purl.obolibrary.org/obo/HP_0007651	
HP:0007654	obsolete Retinal striation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007654	
HP:0007655	Eversion of lateral third of lower eyelids	biolink:PhenotypicFeature	hp	UMLS:C1835801			http://purl.obolibrary.org/obo/HP_0007655	
HP:0007656	Lacrimal gland aplasia	biolink:PhenotypicFeature	hp	UMLS:C4024822		Absent tear gland	http://purl.obolibrary.org/obo/HP_0007656	A congenital defect of development characterized by absence of the lacrimal gland.
HP:0007657	Diffuse nuclear cataract	biolink:PhenotypicFeature	hp	UMLS:C4024821			http://purl.obolibrary.org/obo/HP_0007657	Opacity of the entire lens nucleus.
HP:0007658	Large hyperpigmented retinal spots	biolink:PhenotypicFeature	hp	UMLS:C4024820			http://purl.obolibrary.org/obo/HP_0007658	
HP:0007659	obsolete Decreased retinal pigmentation with dispersion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007659	
HP:0007661	Abnormality of chorioretinal pigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024819			http://purl.obolibrary.org/obo/HP_0007661	
HP:0007663	Reduced visual acuity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:13164000|UMLS:C0234632		Decreased clarity of vision|Decreased central vision|Decreased visual acuity|Poor visual acuity	http://purl.obolibrary.org/obo/HP_0007663	
HP:0007665	Curly eyelashes	biolink:PhenotypicFeature	hp	UMLS:C2673670	hposlim_core	Curly eyelashes	http://purl.obolibrary.org/obo/HP_0007665	Abnormally curly or curved eyelashes.
HP:0007667	Peripheral cystoid retinal degeneration	biolink:PhenotypicFeature	hp	UMLS:C1839362		Cystic retinal degeneration|Peripheral cystoid degeneration	http://purl.obolibrary.org/obo/HP_0007667	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	biolink:PhenotypicFeature	hp	UMLS:C1969722			http://purl.obolibrary.org/obo/HP_0007668	
HP:0007670	Abnormal vestibulo-ocular reflex	biolink:PhenotypicFeature	hp	UMLS:C4021571		Abnormal vestibuloocular reflex	http://purl.obolibrary.org/obo/HP_0007670	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	biolink:PhenotypicFeature	hp	UMLS:C4024818		Progressive night blindness	http://purl.obolibrary.org/obo/HP_0007675	
HP:0007676	Hypoplasia of the iris	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95714006|UMLS:C0344539	hposlim_core	Underdeveloped iris|Hypoplastic iris|Iris hypoplasia	http://purl.obolibrary.org/obo/HP_0007676	Congenital underdevelopment of the iris.
HP:0007677	Vitelliform-like macular lesions	biolink:PhenotypicFeature	hp	MSH:D057826|SNOMEDCT_US:90036004|UMLS:C0339510|UMLS:C4024817		Vitelliform macular lesions|Vitelliform macular dystrophy	http://purl.obolibrary.org/obo/HP_0007677	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:231841004|UMLS:C0238300		Narrowing of the tear duct|Nasolacrimal duct stenosis	http://purl.obolibrary.org/obo/HP_0007678	Narrowing of a tear duct (lacrimal duct).
HP:0007680	Depigmented fundus	biolink:PhenotypicFeature	hp	UMLS:C4024816			http://purl.obolibrary.org/obo/HP_0007680	
HP:0007685	Peripheral retinal avascularization	biolink:PhenotypicFeature	hp	UMLS:C1851406			http://purl.obolibrary.org/obo/HP_0007685	
HP:0007686	Abnormal pupillary function	biolink:PhenotypicFeature	hp	MSH:D011681|SNOMEDCT_US:72124005|UMLS:C0917967			http://purl.obolibrary.org/obo/HP_0007686	A functional abnormality of the pupil.
HP:0007687	Unilateral ptosis	biolink:PhenotypicFeature	hp	UMLS:C1866806		Dropping of one upper eyelid	http://purl.obolibrary.org/obo/HP_0007687	A unilateral form of ptosis.
HP:0007688	Undetectable light- and dark-adapted electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4021570		Absent cone and rod functions by electroretinogram|Absent rod-and cone-mediated responses on ERG	http://purl.obolibrary.org/obo/HP_0007688	Absence of the combined rod-and-cone response on electroretinogram.
HP:0007690	Map-dot-fingerprint corneal dystrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:32935005|UMLS:C0271285			http://purl.obolibrary.org/obo/HP_0007690	
HP:0007691	obsolete Short curly eyelashes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007691	
HP:0007692	obsolete Nonnuclear polymorphic congenital cataract	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007692	
HP:0007695	Abnormal pupillary light reflex	biolink:PhenotypicFeature	hp	UMLS:C1970591			http://purl.obolibrary.org/obo/HP_0007695	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	biolink:PhenotypicFeature	hp	UMLS:C4024814|UMLS:C4280270|UMLS:C4280420		Small lower eyelid|Decreased size of lower eyelid|Underdevelopment of lower eyelid|Short lower eyelid|Hypotrophic lower eyelid	http://purl.obolibrary.org/obo/HP_0007697	Underdevelopment of the lower eyelid.
HP:0007698	obsolete Retinal pigment epithelial atrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007698	
HP:0007700	Ocular anterior segment dysgenesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:65075004|UMLS:C0266525		Anterior chamber cleavage defect|Anterior chamber cleavage disorder|Anterior chamber malformation|Anterior chamber mesodermal anomalies|Anterior segment developmental abnormality|Anterior segment dysgenesis|Anterior segment mesencyhmal dysgenesis|Anterior segment ocular dysgenesis	http://purl.obolibrary.org/obo/HP_0007700	Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
HP:0007702	obsolete Pigmentary retinal deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007702	
HP:0007703	Abnormality of retinal pigmentation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:421689001|UMLS:C1720508|UMLS:C1862475		Abnormal retinal pigmentation|Abnormality of RPE|Abnormality of retinal pigment epithelium|Retinal pigmentary anomaly|Abnormality of the retinal pigment epithelium	http://purl.obolibrary.org/obo/HP_0007703	
HP:0007704	Paroxysmal involuntary eye movements	biolink:PhenotypicFeature	hp	UMLS:C1847515		Abnormal eye movements, paroxysmal	http://purl.obolibrary.org/obo/HP_0007704	Sudden-onset episode of abnormal, involuntary eye movements.
HP:0007705	Corneal degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111521006|UMLS:C0155118			http://purl.obolibrary.org/obo/HP_0007705	
HP:0007707	Congenital aphakia	biolink:PhenotypicFeature	hp	MSH:C537786|UMLS:C1853230		Lens agenesis	http://purl.obolibrary.org/obo/HP_0007707	Absence of the crystalline lens of the eye as a result of a developmental defect.
HP:0007708	Absent inner eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4024812		Absent inner eyelashes	http://purl.obolibrary.org/obo/HP_0007708	
HP:0007709	Band-shaped corneal dystrophy	biolink:PhenotypicFeature	hp	MSH:C562399|SNOMEDCT_US:35055000|UMLS:C0155120			http://purl.obolibrary.org/obo/HP_0007709	
HP:0007710	Peripheral vitreous opacities	biolink:PhenotypicFeature	hp	UMLS:C4024811			http://purl.obolibrary.org/obo/HP_0007710	
HP:0007712	obsolete Choroidal dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007712	
HP:0007713	obsolete Juvenile zonular cataracts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007713	
HP:0007715	Weak extraocular muscles	biolink:PhenotypicFeature	hp	UMLS:C1859436			http://purl.obolibrary.org/obo/HP_0007715	
HP:0007716	Uveal melanoma	biolink:PhenotypicFeature	hp	MSH:C536494|NCIT:C3224|UMLS:C0220633		Intraocular melanoma	http://purl.obolibrary.org/obo/HP_0007716	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	biolink:PhenotypicFeature	hp	UMLS:C4024810			http://purl.obolibrary.org/obo/HP_0007717	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204145006|UMLS:C0344529		Cornea plana	http://purl.obolibrary.org/obo/HP_0007720	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	biolink:PhenotypicFeature	hp	UMLS:C3277464		Saccular conjunctival aneurysms	http://purl.obolibrary.org/obo/HP_0007721	Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.
HP:0007722	Retinal pigment epithelial atrophy	biolink:PhenotypicFeature	hp	UMLS:C1840457			http://purl.obolibrary.org/obo/HP_0007722	Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
HP:0007727	Opacification of the corneal epithelium	biolink:PhenotypicFeature	hp	UMLS:C1849198		Superficial corneal opacities	http://purl.obolibrary.org/obo/HP_0007727	Lack of transparency of the corneal epithelium.
HP:0007728	Congenital miosis	biolink:PhenotypicFeature	hp	MSH:C537550|SNOMEDCT_US:400962005|UMLS:C1303009			http://purl.obolibrary.org/obo/HP_0007728	Abnormal (non-physiological) constriction of the pupil of congenital onset.
HP:0007730	Iris hypopigmentation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247032003|SNOMEDCT_US:70397008|UMLS:C0154920		Light eye color|Reduced iris pigmentation	http://purl.obolibrary.org/obo/HP_0007730	An abnormal reduction in the amount of pigmentation of the iris.
HP:0007731	Chorioretinal dysplasia	biolink:PhenotypicFeature	hp	UMLS:C4024809			http://purl.obolibrary.org/obo/HP_0007731	Abnormal development of the choroid and retina.
HP:0007732	Lacrimal gland hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1863200		Underdeveloped tear gland|Hypoplastic lacrimal gland	http://purl.obolibrary.org/obo/HP_0007732	Underdevelopment of the lacrimal gland.
HP:0007733	Laterally curved eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1846266			http://purl.obolibrary.org/obo/HP_0007733	
HP:0007734	Enlarged lacrimal glands	biolink:PhenotypicFeature	hp	UMLS:C1867030		Enlarged tear gland	http://purl.obolibrary.org/obo/HP_0007734	Abnormally big lacrimal glands.
HP:0007736	obsolete Pericentral retinal dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007736	
HP:0007737	Bone spicule pigmentation of the retina	biolink:PhenotypicFeature	hp	UMLS:C1836926		Bone corpuscle fundus pigmentation|Fundus with peripheral bony spicules|Retinal bone corpuscle pigmentation|Retinal pigmented bone spicules|Retinal 'bone corpuscle' pigmentation	http://purl.obolibrary.org/obo/HP_0007737	Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
HP:0007738	Uncontrolled eye movements	biolink:PhenotypicFeature	hp	UMLS:C1854686			http://purl.obolibrary.org/obo/HP_0007738	
HP:0007739	obsolete Mildly reduced visual acuity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007739	
HP:0007740	Long eyelashes in irregular rows	biolink:PhenotypicFeature	hp	UMLS:C1850640		Long eyelashes in irregular rows	http://purl.obolibrary.org/obo/HP_0007740	
HP:0007744	obsolete Iridoretinal coloboma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007744	
HP:0007747	Monocular horizontal nystagmus	biolink:PhenotypicFeature	hp	UMLS:C4024807			http://purl.obolibrary.org/obo/HP_0007747	
HP:0007748	obsolete Irido-fundal coloboma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007748	
HP:0007750	Hypoplasia of the fovea	biolink:PhenotypicFeature	hp	UMLS:C2673946|UMLS:C4072863		Foveal hypoplasia|Dull foveal reflex	http://purl.obolibrary.org/obo/HP_0007750	Underdevelopment of the fovea centralis.
HP:0007754	Macular dystrophy	biolink:PhenotypicFeature	hp	UMLS:C0730292	hposlim_core		http://purl.obolibrary.org/obo/HP_0007754	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	biolink:PhenotypicFeature	hp	MSH:D053559|SNOMEDCT_US:1674008|UMLS:C0339277			http://purl.obolibrary.org/obo/HP_0007755	
HP:0007756	obsolete Slitlike anterior chamber angles in children	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007756	
HP:0007757	obsolete Hypoplasia of choroid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007757	
HP:0007758	obsolete Congenital visual impairment	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007758	
HP:0007759	Opacification of the corneal stroma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246957002|UMLS:C0423250|UMLS:C1856661		Cloudy cornea|Corneal stromal opacity|Cloudy corneas	http://purl.obolibrary.org/obo/HP_0007759	Reduced transparency of the stroma of cornea.
HP:0007760	Crystalline corneal dystrophy	biolink:PhenotypicFeature	hp	MSH:C535475|SNOMEDCT_US:39662004|SNOMEDCT_US:419395007|UMLS:C0271287			http://purl.obolibrary.org/obo/HP_0007760	
HP:0007761	Pericentral scotoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:404650002|UMLS:C1321308			http://purl.obolibrary.org/obo/HP_0007761	A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.
HP:0007763	Retinal telangiectasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:84884003|UMLS:C0154835	hposlim_core		http://purl.obolibrary.org/obo/HP_0007763	Dilatation of small blood vessels of the retina.
HP:0007765	Deep anterior chamber	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246991003|UMLS:C0423280			http://purl.obolibrary.org/obo/HP_0007765	Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.
HP:0007766	Optic disc hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:373650004|UMLS:C1298695		Hypoplastic optic disks	http://purl.obolibrary.org/obo/HP_0007766	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	biolink:PhenotypicFeature	hp	UMLS:C4021569		Tortuosity of main retinal vessels	http://purl.obolibrary.org/obo/HP_0007768	The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).
HP:0007769	Peripheral retinal degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405721006|SNOMEDCT_US:61536007|UMLS:C1320640			http://purl.obolibrary.org/obo/HP_0007769	
HP:0007770	Hypoplasia of the retina	biolink:PhenotypicFeature	hp	UMLS:C1854685		Underdeveloped retina|Retinal hypoplasia	http://purl.obolibrary.org/obo/HP_0007770	
HP:0007772	Impaired smooth pursuit	biolink:PhenotypicFeature	hp	UMLS:C1837458|UMLS:C1848530	hposlim_core	Abnormality of visual tracking|Impairment of visual pursuit|Abnormal visual pursuit	http://purl.obolibrary.org/obo/HP_0007772	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	biolink:PhenotypicFeature	hp	UMLS:C1850109		Vitreoretinal abnormality|Vitreoretinal degeneration	http://purl.obolibrary.org/obo/HP_0007773	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	biolink:PhenotypicFeature	hp	UMLS:C1836890			http://purl.obolibrary.org/obo/HP_0007774	Underdevelopment of the ciliary body.
HP:0007776	Sparse lower eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1835148		Scanty lower eyelashes|Sparse lower eyelashes|Thin lower eyelashes|Hypotrichosis of lower eyelashes|Partial absence of lower eyelashes	http://purl.obolibrary.org/obo/HP_0007776	
HP:0007777	Chorioretinal scar	biolink:PhenotypicFeature	hp	SNOMEDCT_US:53854005|UMLS:C0008512			http://purl.obolibrary.org/obo/HP_0007777	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	biolink:PhenotypicFeature	hp	UMLS:C4024803		Neovascularization of peripheral and posterior retina|Posterior retinal neovascularisation	http://purl.obolibrary.org/obo/HP_0007778	A type of retinal neovascularization that affects the posterior pole of the retina.
HP:0007779	Anterior segment of eye aplasia	biolink:PhenotypicFeature	hp	UMLS:C1853234			http://purl.obolibrary.org/obo/HP_0007779	
HP:0007780	Cortical pulverulent cataract	biolink:PhenotypicFeature	hp	UMLS:C4021568		Cataracts, cortical pulverulent	http://purl.obolibrary.org/obo/HP_0007780	A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.
HP:0007782	obsolete Peripheral retinal cone degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007782	
HP:0007783	obsolete Butterfly retinal pigment epithelial dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007783	
HP:0007786	obsolete Lacunar retinal depigmentation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007786	
HP:0007787	Posterior subcapsular cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:315353005|UMLS:C0858617		Posterior subcapsular opacities of the lens|Posterior subcapsular cataracts	http://purl.obolibrary.org/obo/HP_0007787	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	biolink:PhenotypicFeature	hp	UMLS:C4024800			http://purl.obolibrary.org/obo/HP_0007791	Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.
HP:0007792	Microsaccadic pursuit	biolink:PhenotypicFeature	hp	UMLS:C1843892			http://purl.obolibrary.org/obo/HP_0007792	
HP:0007793	Granular macular appearance	biolink:PhenotypicFeature	hp	UMLS:C4024799		Macular retinal pigment epithelial mottling	http://purl.obolibrary.org/obo/HP_0007793	Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.
HP:0007795	Anterior cortical cataract	biolink:PhenotypicFeature	hp	UMLS:C1857308			http://purl.obolibrary.org/obo/HP_0007795	A cataract that affects the anterior part of the cortex of the lens.
HP:0007797	Retinal vascular malformation	biolink:PhenotypicFeature	hp	UMLS:C1861791			http://purl.obolibrary.org/obo/HP_0007797	
HP:0007798	obsolete Foveal dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007798	
HP:0007799	Conjunctival whitish salt-like deposits	biolink:PhenotypicFeature	hp	UMLS:C1968901			http://purl.obolibrary.org/obo/HP_0007799	The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.
HP:0007800	Increased axial length of the globe	biolink:PhenotypicFeature	hp	UMLS:C1835117		Increased front to back length of eyeball|Globe elongated|Increased axial globe length	http://purl.obolibrary.org/obo/HP_0007800	Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
HP:0007801	obsolete Fishnet retinal pigmentation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007801	
HP:0007802	Granular corneal dystrophy	biolink:PhenotypicFeature	hp	MSH:D003317|SNOMEDCT_US:45283008|UMLS:C0018179			http://purl.obolibrary.org/obo/HP_0007802	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	biolink:PhenotypicFeature	hp	MSH:C536128|MSH:D003117|SNOMEDCT_US:56852002|UMLS:C0152200|UMLS:C1857618		Total colorblindness|Complete achromatopsia	http://purl.obolibrary.org/obo/HP_0007803	Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
HP:0007807	Optic nerve compression	biolink:PhenotypicFeature	hp	SNOMEDCT_US:72983001|UMLS:C0271344			http://purl.obolibrary.org/obo/HP_0007807	
HP:0007808	obsolete Bilateral retinal coloboma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007808	
HP:0007809	Punctate corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024796			http://purl.obolibrary.org/obo/HP_0007809	
HP:0007810	obsolete Progressive bifocal chorioretinal atrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007810	
HP:0007811	Horizontal pendular nystagmus	biolink:PhenotypicFeature	hp	UMLS:C1866180			http://purl.obolibrary.org/obo/HP_0007811	Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.
HP:0007812	Herpetiform corneal ulceration	biolink:PhenotypicFeature	hp	UMLS:C4020911		Dendritic corneal epithelial ulcer|Herpetiform corneal ulcers	http://purl.obolibrary.org/obo/HP_0007812	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	biolink:PhenotypicFeature	hp	UMLS:C4024795			http://purl.obolibrary.org/obo/HP_0007813	A form of uveitis that is not associated with the formation of granulomas.
HP:0007814	Retinal pigment epithelial mottling	biolink:PhenotypicFeature	hp	UMLS:C1857644		RPE irregularity|RPE mottling|Focal hypopigmentation of the retinal pigment epithelium|Retinal pigment epithelium irregularity|Salt and pepper retinal pigmentation|Salt and pepper retinopathy	http://purl.obolibrary.org/obo/HP_0007814	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	biolink:PhenotypicFeature	hp	UMLS:C3277463			http://purl.obolibrary.org/obo/HP_0007815	
HP:0007817	Horizontal supranuclear gaze palsy	biolink:PhenotypicFeature	hp	UMLS:C4024794			http://purl.obolibrary.org/obo/HP_0007817	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	biolink:PhenotypicFeature	hp	UMLS:C4021567		Ring iris heterochromia	http://purl.obolibrary.org/obo/HP_0007818	The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.
HP:0007819	Presenile cataracts	biolink:PhenotypicFeature	hp	SNOMEDCT_US:441622000|UMLS:C0154971		Presenile cataract	http://purl.obolibrary.org/obo/HP_0007819	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	biolink:PhenotypicFeature	hp	UMLS:C1863201		Atretic lacrimal puncta|Atretic lacrimal punctum	http://purl.obolibrary.org/obo/HP_0007820	Congenital absence or closure of the opening of the lacrimal punctum.
HP:0007822	Central retinal exudate	biolink:PhenotypicFeature	hp	UMLS:C4024793			http://purl.obolibrary.org/obo/HP_0007822	
HP:0007824	Total ophthalmoplegia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78097002|UMLS:C0155338		Complete ophthalmoplegia|Global paralysis of gaze|Total internal and external ophthalmoplegia	http://purl.obolibrary.org/obo/HP_0007824	Paralysis of both the extrinsic and intrinsic ocular muscles.
HP:0007825	obsolete Cataracts develop in second or third decade	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007825	
HP:0007827	Nodular corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024792			http://purl.obolibrary.org/obo/HP_0007827	
HP:0007829	obsolete Diffuse retinal cone degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007829	
HP:0007830	Adult-onset night blindness	biolink:PhenotypicFeature	hp	UMLS:C4024790		Adult-onset night blindness	http://purl.obolibrary.org/obo/HP_0007830	Inability to see well at night or in poor light with onset in adulthood.
HP:0007831	Nonprogressive restrictive external ophthalmoplegia	biolink:PhenotypicFeature	hp	UMLS:C4024789			http://purl.obolibrary.org/obo/HP_0007831	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	biolink:PhenotypicFeature	hp	UMLS:C1859882		Pigmentation of the outer white part of the eyeball	http://purl.obolibrary.org/obo/HP_0007832	
HP:0007833	Anterior chamber synechiae	biolink:PhenotypicFeature	hp	UMLS:C4024788			http://purl.obolibrary.org/obo/HP_0007833	
HP:0007834	Progressive cataract	biolink:PhenotypicFeature	hp	UMLS:C4021566		Cataract, progressive	http://purl.obolibrary.org/obo/HP_0007834	A kind of cataract that progresses with age.
HP:0007835	S-shaped palpebral fissures	biolink:PhenotypicFeature	hp	UMLS:C4024787		S-shaped eyes|S-shaped opening between the eyelids	http://purl.obolibrary.org/obo/HP_0007835	
HP:0007836	Mosaic corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024786			http://purl.obolibrary.org/obo/HP_0007836	
HP:0007838	Progressive ptosis	biolink:PhenotypicFeature	hp	UMLS:C1834015		Progressive drooping of upper eyelid	http://purl.obolibrary.org/obo/HP_0007838	A progressive form of ptosis.
HP:0007840	Long upper eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4024785		Increased length of upper eyelashes|Long upper eyelashes|Ciliary trichomegaly of upper eyelashes	http://purl.obolibrary.org/obo/HP_0007840	Increased length of the upper eyelashes.
HP:0007841	Amyloid deposition in the vitreous humor	biolink:PhenotypicFeature	hp	UMLS:C4024784		Amyloid deposition in the vitreous humour|Vitreous amyloid deposits	http://purl.obolibrary.org/obo/HP_0007841	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	biolink:PhenotypicFeature	hp	UMLS:C3278975		Narrowing of blood vessels in back of eye	http://purl.obolibrary.org/obo/HP_0007843	
HP:0007850	Retinal vascular proliferation	biolink:PhenotypicFeature	hp	MSH:D015861|SNOMEDCT_US:61267008|UMLS:C0035320			http://purl.obolibrary.org/obo/HP_0007850	
HP:0007851	obsolete Temporal displacement of maculae	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007851	
HP:0007852	obsolete Pericentral pigmentary retinopathy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007852	
HP:0007854	Glaucomatous visual field defect	biolink:PhenotypicFeature	hp	SNOMEDCT_US:370961005|UMLS:C1299694			http://purl.obolibrary.org/obo/HP_0007854	
HP:0007856	Punctate opacification of the cornea	biolink:PhenotypicFeature	hp	UMLS:C4021565		Punctate corneal opacities	http://purl.obolibrary.org/obo/HP_0007856	Punctate opacification (reduced transparency) of the corneal stroma.
HP:0007858	Chorioretinal lacunae	biolink:PhenotypicFeature	hp	UMLS:C1844751|UMLS:C4072866	hposlim_core	Lacunar retinal depigmentation	http://purl.obolibrary.org/obo/HP_0007858	Punched out lesions in the pigmented layer of the retina.
HP:0007859	Congenital horizontal nystagmus	biolink:PhenotypicFeature	hp	UMLS:C1866180		Nystagmus, congenital horizontal	http://purl.obolibrary.org/obo/HP_0007859	Horizontal nystagmus dating from or present at birth.
HP:0007862	Retinal calcification	biolink:PhenotypicFeature	hp	UMLS:C1867289			http://purl.obolibrary.org/obo/HP_0007862	Deposition of calcium salts in the retina.
HP:0007866	Retinal infarction	biolink:PhenotypicFeature	hp	UMLS:C0281967			http://purl.obolibrary.org/obo/HP_0007866	
HP:0007867	Restrictive partial external ophthalmoplegia	biolink:PhenotypicFeature	hp	UMLS:C4024781			http://purl.obolibrary.org/obo/HP_0007867	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:0007868	obsolete Age-related macular degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007868	
HP:0007869	obsolete Peripheral retinopathy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007869	
HP:0007872	Choroidal hemangioma	biolink:PhenotypicFeature	hp	NCIT:C3086|SNOMEDCT_US:255022003|UMLS:C0346390			http://purl.obolibrary.org/obo/HP_0007872	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	biolink:PhenotypicFeature	hp	UMLS:C1862376		Prominent Schwalbe lines	http://purl.obolibrary.org/obo/HP_0007873	
HP:0007874	Almond-shaped palpebral fissure	biolink:PhenotypicFeature	hp	UMLS:C4024780	hposlim_core	Almond shaped eyes|Almond-shaped opening between the eyelids	http://purl.obolibrary.org/obo/HP_0007874	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95486002|UMLS:C0005754		Blindness present at birth|Congenital amaurosis	http://purl.obolibrary.org/obo/HP_0007875	Blindness with onset at birth.
HP:0007876	obsolete Juvenile cortical cataract	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007876	
HP:0007879	Allergic conjunctivitis	biolink:PhenotypicFeature	hp	MSH:D003233|SNOMEDCT_US:231854006|SNOMEDCT_US:473460002|UMLS:C0009766			http://purl.obolibrary.org/obo/HP_0007879	Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.
HP:0007880	Marginal corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024779			http://purl.obolibrary.org/obo/HP_0007880	
HP:0007881	Central corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024778			http://purl.obolibrary.org/obo/HP_0007881	
HP:0007885	Slowed horizontal saccades	biolink:PhenotypicFeature	hp	UMLS:C1856477			http://purl.obolibrary.org/obo/HP_0007885	An abnormally slow velocity of horizontal saccadic eye movements.
HP:0007886	Absent extraocular muscles	biolink:PhenotypicFeature	hp	UMLS:C1408781|UMLS:C4024777		Missing eye muscles|Absent ocular muscles	http://purl.obolibrary.org/obo/HP_0007886	Congenital absence of the extraocular muscles.
HP:0007889	Iridescent posterior subcapsular cataract	biolink:PhenotypicFeature	hp	UMLS:C1864573		Cataracts, posterior, subcapsular, iridescent	http://purl.obolibrary.org/obo/HP_0007889	A type of posterior subcapsular cataract characterized by an iridescent color.
HP:0007892	Hypoplasia of the lacrimal punctum	biolink:PhenotypicFeature	hp	UMLS:C4021564		Hypoplasia of the lacrimal puncta|Hypoplastic lacrimal puncta	http://purl.obolibrary.org/obo/HP_0007892	Underdevelopment of the lacrimal puncta.
HP:0007893	obsolete Progressive retinal degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007893	
HP:0007894	Hypopigmentation of the fundus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95694000|UMLS:C0151891		Decreased fundus pigmentation|Fundus hypopigmentation	http://purl.obolibrary.org/obo/HP_0007894	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	biolink:PhenotypicFeature	hp	MSH:D058456|SNOMEDCT_US:25506007|SNOMEDCT_US:360455002|UMLS:C0154832			http://purl.obolibrary.org/obo/HP_0007898	
HP:0007899	Retinal nonattachment	biolink:PhenotypicFeature	hp	UMLS:C4021563		Congenital retinal non-attachment	http://purl.obolibrary.org/obo/HP_0007899	Failure of attachment of the retina during development.
HP:0007900	Hypoplastic lacrimal duct	biolink:PhenotypicFeature	hp	UMLS:C1968574		Underdeveloped tear duct	http://purl.obolibrary.org/obo/HP_0007900	
HP:0007901	obsolete Retinal malformation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007901	
HP:0007902	Vitreous hemorrhage	biolink:PhenotypicFeature	hp	MSH:D014823|SNOMEDCT_US:31341008|UMLS:C0042909	hposlim_core	Vitreous haemorrhage	http://purl.obolibrary.org/obo/HP_0007902	Bleeding within the vitreous compartment of the eye.
HP:0007903	Paravenous chorioretinal atrophy	biolink:PhenotypicFeature	hp	UMLS:C4072868			http://purl.obolibrary.org/obo/HP_0007903	Chorioretinal atrophy along the retinal veins.
HP:0007905	Abnormal iris vasculature	biolink:PhenotypicFeature	hp	UMLS:C3275963		Abnormality of iris blood vessels	http://purl.obolibrary.org/obo/HP_0007905	
HP:0007906	Ocular hypertension	biolink:PhenotypicFeature	hp	SNOMEDCT_US:112222000|UMLS:C0234708		Elevated IOP|Increased IOP|Raised IOP|High eye pressure|Elevated intraocular pressure|Increased intraocular pressure|Raised intraocular pressure	http://purl.obolibrary.org/obo/HP_0007906	Intraocular pressure that is 2 standard deviations above the population mean.
HP:0007910	obsolete Nonprogressive congenital retinal dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007910	
HP:0007911	Congenital bilateral ptosis	biolink:PhenotypicFeature	hp	UMLS:C1836264		Congenital drooping of both upper eyelids|Ptosis, bilateral congenital|Ptosis, congenital bilateral	http://purl.obolibrary.org/obo/HP_0007911	
HP:0007913	Reticular retinal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4024776			http://purl.obolibrary.org/obo/HP_0007913	A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.
HP:0007915	Polymorphous posterior corneal dystrophy	biolink:PhenotypicFeature	hp	MSH:C562745|SNOMEDCT_US:29504002|UMLS:C0339284			http://purl.obolibrary.org/obo/HP_0007915	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:0007916	obsolete Small anterior lens surface opacities	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007916	
HP:0007917	Tractional retinal detachment	biolink:PhenotypicFeature	hp	UMLS:C1866178			http://purl.obolibrary.org/obo/HP_0007917	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:0007920	obsolete Congenital chorioretinal dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007920	
HP:0007922	Hypermyelinated retinal nerve fibers	biolink:PhenotypicFeature	hp	UMLS:C1849151		Hypermyelinated retinal nerve fibres|Retinal striation	http://purl.obolibrary.org/obo/HP_0007922	
HP:0007923	obsolete Foveal hyperplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007923	
HP:0007924	Slow decrease in visual acuity	biolink:PhenotypicFeature	hp	UMLS:C1853141|UMLS:C3278981		Slow decrease in sharpness of vision|Subacute deterioration of visual acuity|Decreased visual acuity, slowly progressive	http://purl.obolibrary.org/obo/HP_0007924	
HP:0007925	Lacrimal duct aplasia	biolink:PhenotypicFeature	hp	UMLS:C4024773		Absent tear duct	http://purl.obolibrary.org/obo/HP_0007925	A congenital defect resulting in absence of the lacrimal duct.
HP:0007928	Abnormal flash visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4024772			http://purl.obolibrary.org/obo/HP_0007928	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	biolink:PhenotypicFeature	hp	UMLS:C4024771			http://purl.obolibrary.org/obo/HP_0007929	Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.
HP:0007930	obsolete Prominent epicanthal folds	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007930	
HP:0007932	Bilateral congenital mydriasis	biolink:PhenotypicFeature	hp	UMLS:C4024770			http://purl.obolibrary.org/obo/HP_0007932	Congenital abnormal dilation of the pupil on both sides.
HP:0007933	Broad lateral eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1837733		Wide lateral eyebrow	http://purl.obolibrary.org/obo/HP_0007933	Regional increase in the width (height) of the lateral eyebrow.
HP:0007935	Juvenile posterior subcapsular lenticular opacities	biolink:PhenotypicFeature	hp	UMLS:C1863408			http://purl.obolibrary.org/obo/HP_0007935	
HP:0007936	Restrictive external ophthalmoplegia	biolink:PhenotypicFeature	hp	UMLS:C1865918|UMLS:C4020806		Restrictive ophthalmoplegia|Restrictive external ophthalmoplegia, bilateral	http://purl.obolibrary.org/obo/HP_0007936	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	biolink:PhenotypicFeature	hp	UMLS:C4024769		Fishnet retinal pigmentation|Honeycomb retinal degeneration	http://purl.obolibrary.org/obo/HP_0007937	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	biolink:PhenotypicFeature	hp	MSH:C536238|SNOMEDCT_US:24704003|UMLS:C0339537		Blue cone monochromatism|Incomplete achromatopsia|S-cone monochromacy	http://purl.obolibrary.org/obo/HP_0007939	A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.
HP:0007941	Limited extraocular movements	biolink:PhenotypicFeature	hp	UMLS:C1858427		Limited extraocular movement	http://purl.obolibrary.org/obo/HP_0007941	
HP:0007942	Internal ophthalmoplegia	biolink:PhenotypicFeature	hp	MSH:D009886|SNOMEDCT_US:232146005|UMLS:C0339693			http://purl.obolibrary.org/obo/HP_0007942	Paralysis of the iris and ciliary apparatus.
HP:0007943	Congenital stapes ankylosis	biolink:PhenotypicFeature	hp	UMLS:C1866657			http://purl.obolibrary.org/obo/HP_0007943	A form of stapes ankylosis with congenital onset.
HP:0007944	Intermittent microsaccadic pursuits	biolink:PhenotypicFeature	hp	UMLS:C4024768			http://purl.obolibrary.org/obo/HP_0007944	
HP:0007945	obsolete Choroidal degeneration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007945	
HP:0007946	Unilateral narrow palpebral fissure	biolink:PhenotypicFeature	hp	UMLS:C1866805|UMLS:C4280419		Unequal size of opening between the eyelids|Narrow palpebral fissure, unilateral	http://purl.obolibrary.org/obo/HP_0007946	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	biolink:PhenotypicFeature	hp	MSH:C564838|UMLS:C1849398			http://purl.obolibrary.org/obo/HP_0007947	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	biolink:PhenotypicFeature	hp	UMLS:C4024767			http://purl.obolibrary.org/obo/HP_0007948	A type of posterior cortical cataract characterized by dense lenticular opacities.
HP:0007949	obsolete Progressive macular scarring	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007949	
HP:0007950	Peripapillary chorioretinal atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024765			http://purl.obolibrary.org/obo/HP_0007950	Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).
HP:0007956	obsolete Bilateral choroid coloboma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007956	
HP:0007957	Corneal opacity	biolink:PhenotypicFeature	hp	MSH:D003318|SNOMEDCT_US:413921009|SNOMEDCT_US:64634000|SNOMEDCT_US:95735008|UMLS:C0010038|UMLS:C0521719	hposlim_core	Corneal clouding|Corneal opacities|Reduction of corneal clarity|Scarring or clouding of the cornea of the eye	http://purl.obolibrary.org/obo/HP_0007957	A reduction of corneal clarity.
HP:0007958	Optic atrophy from cranial nerve compression	biolink:PhenotypicFeature	hp	UMLS:C4024763			http://purl.obolibrary.org/obo/HP_0007958	
HP:0007961	obsolete Rarefaction of retinal pigmentation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007961	
HP:0007962	Speckled corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4021857			http://purl.obolibrary.org/obo/HP_0007962	
HP:0007963	Pattern dystrophy of the retina	biolink:PhenotypicFeature	hp	UMLS:C4024762			http://purl.obolibrary.org/obo/HP_0007963	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	biolink:PhenotypicFeature	hp	UMLS:C1843486			http://purl.obolibrary.org/obo/HP_0007964	
HP:0007965	Undetectable visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C1850069		Absence of visual evoked potentials|Non-detectable VEP|Undetectable VEP	http://purl.obolibrary.org/obo/HP_0007965	
HP:0007968	Remnants of the hyaloid vascular system	biolink:PhenotypicFeature	hp	MSH:D054514|SNOMEDCT_US:314270008|SNOMEDCT_US:44647001|SNOMEDCT_US:69927002|UMLS:C0266568	hposlim_core	Congenital retinal septum|Persistent fetal vasculature|Persistent hyperplasia of primary vitreous|Persistent hyperplastic primary vitreous|Persistent hypertrophic primary vitreous|Persistent posterior fetal fibrovascular sheath of the lens|Persistent tunica vasculosa lentis	http://purl.obolibrary.org/obo/HP_0007968	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:268163008|SNOMEDCT_US:61989004|UMLS:C0266573		Congenital drooping upper eyelid	http://purl.obolibrary.org/obo/HP_0007970	
HP:0007971	Lamellar cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204128001|SNOMEDCT_US:21590003|UMLS:C0266537			http://purl.obolibrary.org/obo/HP_0007971	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	biolink:PhenotypicFeature	hp	MSH:D015792|SNOMEDCT_US:95494009|UMLS:C0035313	hposlim_core	Retinal dysgenesis	http://purl.obolibrary.org/obo/HP_0007973	The presence of developmental dysplasia of the retina.
HP:0007975	Hypometric horizontal saccades	biolink:PhenotypicFeature	hp	UMLS:C1856478			http://purl.obolibrary.org/obo/HP_0007975	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	biolink:PhenotypicFeature	hp	MSH:C537955|SNOMEDCT_US:204138006|UMLS:C0344523		Cataracts, congenital, cerulean	http://purl.obolibrary.org/obo/HP_0007976	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	biolink:PhenotypicFeature	hp	UMLS:C1853394		Nystagmus, horizontal, gaze-evoked|Nystagmus, horizontal gaze-evoked	http://purl.obolibrary.org/obo/HP_0007979	Horizontal nystagmus made apparent by looking to the right or to the left.
HP:0007980	Absent retinal pigment epithelium	biolink:PhenotypicFeature	hp	UMLS:C1852548			http://purl.obolibrary.org/obo/HP_0007980	
HP:0007981	obsolete Concentric narrowing of visual field	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007981	
HP:0007982	obsolete Central tapetoretinal dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0007982	
HP:0007984	Electronegative electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4021561		Electronegative ERG|Electroretinogram: reduced b-wave amplitude|Reduced ERG amplitude of b-wave|Reduced amplitude of dark-adapted bright flash electroretinogram b-wave|Reduced electroretinogram rod b-wave	http://purl.obolibrary.org/obo/HP_0007984	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	biolink:PhenotypicFeature	hp	UMLS:C4024761		Blocked retinal artery	http://purl.obolibrary.org/obo/HP_0007985	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	biolink:PhenotypicFeature	hp	UMLS:C1847882			http://purl.obolibrary.org/obo/HP_0007986	
HP:0007987	Progressive visual field defects	biolink:PhenotypicFeature	hp	UMLS:C4024760			http://purl.obolibrary.org/obo/HP_0007987	
HP:0007988	Macular hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C4024759			http://purl.obolibrary.org/obo/HP_0007988	Decreased amount of pigmentation in the macula lutea.
HP:0007989	Intraretinal exudate	biolink:PhenotypicFeature	hp	UMLS:C4024758			http://purl.obolibrary.org/obo/HP_0007989	Retinal exudate within the retinal tissue itself.
HP:0007990	Hypoplastic iris stroma	biolink:PhenotypicFeature	hp	UMLS:C1860344		Hypoplastic iris stoma|Iris stromal hypoplasia|Underdeveloped iris stroma	http://purl.obolibrary.org/obo/HP_0007990	Underdevelopment of the stroma of iris.
HP:0007992	Lattice retinal degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3577000|UMLS:C0154856			http://purl.obolibrary.org/obo/HP_0007992	
HP:0007993	Malformed lacrimal duct	biolink:PhenotypicFeature	hp	UMLS:C4024757		Malformed tear ducts	http://purl.obolibrary.org/obo/HP_0007993	Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.
HP:0007994	Peripheral visual field loss	biolink:PhenotypicFeature	hp	SNOMEDCT_US:420990001|UMLS:C0241688|UMLS:C2937228		Loss of peripheral vision|Tunnel vision|Kalnienk vision	http://purl.obolibrary.org/obo/HP_0007994	Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
HP:0008000	Decreased corneal reflex	biolink:PhenotypicFeature	hp	MSH:D012021|SNOMEDCT_US:103254005|UMLS:C0151572		Decreased blink reflex|Reduced corneal reflex	http://purl.obolibrary.org/obo/HP_0008000	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	biolink:PhenotypicFeature	hp	UMLS:C3809301			http://purl.obolibrary.org/obo/HP_0008001	Increased amount of pigmentation in the fovea centralis.
HP:0008002	Abnormality of macular pigmentation	biolink:PhenotypicFeature	hp	UMLS:C1837087|UMLS:C4024756	hposlim_core	Macular pigmentary changes	http://purl.obolibrary.org/obo/HP_0008002	Abnormality of macular or foveal pigmentation.
HP:0008003	Jerky ocular pursuit movements	biolink:PhenotypicFeature	hp	UMLS:C1853558		Jerky smooth pursuit	http://purl.obolibrary.org/obo/HP_0008003	
HP:0008005	Congenital corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C1611195			http://purl.obolibrary.org/obo/HP_0008005	
HP:0008007	Primary congenital glaucoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:415176004|UMLS:C1533041			http://purl.obolibrary.org/obo/HP_0008007	
HP:0008008	obsolete Progressive central visual loss	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008008	
HP:0008009	Three rows of eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1860785		Three rows of eyelashes|Triple row of eyelashes	http://purl.obolibrary.org/obo/HP_0008009	
HP:0008011	Peripheral opacification of the cornea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:55713007|UMLS:C0155100		Peripheral corneal opacity	http://purl.obolibrary.org/obo/HP_0008011	Reduced transparency of the peripheral region of the cornea.
HP:0008012	obsolete Congenital myopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008012	
HP:0008014	Central fundal arteriolar microaneurysms	biolink:PhenotypicFeature	hp	UMLS:C4024755			http://purl.obolibrary.org/obo/HP_0008014	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:0008017	obsolete Depigmented lesions of the retinal pigment epithelium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008017	
HP:0008019	Superior lens subluxation	biolink:PhenotypicFeature	hp	UMLS:C2036843		Superior subluxated lens	http://purl.obolibrary.org/obo/HP_0008019	Partial dislocation of the lens in a superior direction.
HP:0008020	Cone dystrophy	biolink:PhenotypicFeature	hp	UMLS:C0730290|UMLS:C3665342		Progressive cone degeneration|Progressive cone dystrophy	http://purl.obolibrary.org/obo/HP_0008020	Inherited progressive cone degeneration.
HP:0008024	obsolete Congenital nuclear cataract	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008024	
HP:0008026	Horizontal opticokinetic nystagmus	biolink:PhenotypicFeature	hp	UMLS:C4024754			http://purl.obolibrary.org/obo/HP_0008026	
HP:0008028	Cystoid macular degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14046000|UMLS:C0154850		Cystic macular degeneration	http://purl.obolibrary.org/obo/HP_0008028	A form of macular degeneration characterized by the presence of multiple cysts in the macula.
HP:0008030	Retinal arteritis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:11255009|UMLS:C0271069			http://purl.obolibrary.org/obo/HP_0008030	
HP:0008031	Posterior Y-sutural cataract	biolink:PhenotypicFeature	hp	UMLS:C4021560		Posterior Y-sutural cataracts	http://purl.obolibrary.org/obo/HP_0008031	A type of sutural cataract in which the opacity follows the posterior Y suture.
HP:0008033	obsolete Congenital exotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008033	
HP:0008034	Abnormal iris pigmentation	biolink:PhenotypicFeature	hp	UMLS:C1834387	hposlim_core		http://purl.obolibrary.org/obo/HP_0008034	Abnormal pigmentation of the iris.
HP:0008035	Retinitis pigmentosa inversa	biolink:PhenotypicFeature	hp	UMLS:C4021559		Central retinitis pigmentosa	http://purl.obolibrary.org/obo/HP_0008035	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:0008036	obsolete Rod-cone dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008036	
HP:0008037	Absent anterior chamber of the eye	biolink:PhenotypicFeature	hp	SNOMEDCT_US:404675003|SNOMEDCT_US:55457007|UMLS:C0271004			http://purl.obolibrary.org/obo/HP_0008037	Absence of the anterior chamber of the eye owing to a developmental defect.
HP:0008038	Aplastic/hypoplastic lacrimal glands	biolink:PhenotypicFeature	hp	UMLS:C1835602		Absent/underdeveloped tear glands|Absent/underdeveloped lacrimal glands	http://purl.obolibrary.org/obo/HP_0008038	Absence or underdevelopment of the lacrimal gland.
HP:0008039	Subepithelial corneal opacities	biolink:PhenotypicFeature	hp	UMLS:C1857307			http://purl.obolibrary.org/obo/HP_0008039	
HP:0008041	Late onset congenital glaucoma	biolink:PhenotypicFeature	hp	UMLS:C1856441			http://purl.obolibrary.org/obo/HP_0008041	
HP:0008043	Retinal arteriolar constriction	biolink:PhenotypicFeature	hp	UMLS:C2176208		Constricted retinal arterioles|Narrow retinal arterioles|Retinal arteriolar narrowing	http://purl.obolibrary.org/obo/HP_0008043	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	biolink:PhenotypicFeature	hp	UMLS:C4021558		High flash visual evoked potentials	http://purl.obolibrary.org/obo/HP_0008045	
HP:0008046	Abnormal retinal vascular morphology	biolink:PhenotypicFeature	hp	UMLS:C4024753		Abnormality of retina blood vessels|Abnormality of the retinal vasculature	http://purl.obolibrary.org/obo/HP_0008046	A structural abnormality of retinal vasculature.
HP:0008047	Abnormality of the vasculature of the eye	biolink:PhenotypicFeature	hp	UMLS:C4024752		Abnormality of eye blood vessels	http://purl.obolibrary.org/obo/HP_0008047	
HP:0008048	Abnormality of the line of Schwalbe	biolink:PhenotypicFeature	hp	UMLS:C4021856			http://purl.obolibrary.org/obo/HP_0008048	An abnormality of the line of Schwalbe.
HP:0008049	Abnormality of the extraocular muscles	biolink:PhenotypicFeature	hp	UMLS:C4024751			http://purl.obolibrary.org/obo/HP_0008049	An abnormality of an extraocular muscle.
HP:0008050	Abnormality of the palpebral fissures	biolink:PhenotypicFeature	hp	UMLS:C4024750		Abnormality of the opening between the eyelids|Abnormality of the palpebral fissures|Deformity of the palpebral fissures|Malformation of the palpebral fissures	http://purl.obolibrary.org/obo/HP_0008050	An anomaly of the space between the medial and lateral canthi of the two open eyelids.
HP:0008051	obsolete Abnormality of the retinal pigment epithelium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008051	
HP:0008052	Retinal fold	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37480005|UMLS:C0229197		Retinal folds	http://purl.obolibrary.org/obo/HP_0008052	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	biolink:PhenotypicFeature	hp	UMLS:C4024748		Absent/small iris|Absent/underdeveloped iris	http://purl.obolibrary.org/obo/HP_0008053	Absence or underdevelopment of the iris.
HP:0008054	Abnormal morphology of the conjunctival vasculature	biolink:PhenotypicFeature	hp	UMLS:C4024747		Abnormal morphology of the conjunctiva vasculature|Abnormal vasculature of the conjunctiva morphology|Abnormality of the vasculature of the conjunctiva	http://purl.obolibrary.org/obo/HP_0008054	Any abnormality of the blood vessels of the conjunctiva.
HP:0008055	Aplasia/Hypoplasia affecting the uvea	biolink:PhenotypicFeature	hp	UMLS:C4024746		Absent/underdeveloped uvea	http://purl.obolibrary.org/obo/HP_0008055	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	biolink:PhenotypicFeature	hp	UMLS:C4024745		Absent/small eye|Absent/underdeveloped eye	http://purl.obolibrary.org/obo/HP_0008056	
HP:0008057	Aplasia/Hypoplasia affecting the fundus	biolink:PhenotypicFeature	hp	UMLS:C4024744		Absent/small fundus	http://purl.obolibrary.org/obo/HP_0008057	
HP:0008058	Aplasia/Hypoplasia of the optic nerve	biolink:PhenotypicFeature	hp	UMLS:C4024743		Absent/small optic nerve|Absent/underdeveloped optic nerve	http://purl.obolibrary.org/obo/HP_0008058	
HP:0008059	Aplasia/Hypoplasia of the macula	biolink:PhenotypicFeature	hp	UMLS:C4024742		Absent/underdeveloped macula	http://purl.obolibrary.org/obo/HP_0008059	
HP:0008060	Aplasia/Hypoplasia of the fovea	biolink:PhenotypicFeature	hp	UMLS:C4024741		Absent/underdeveloped fovea	http://purl.obolibrary.org/obo/HP_0008060	Congenital absence or underdevelopment of the fovea centralis.
HP:0008061	Aplasia/Hypoplasia of the retina	biolink:PhenotypicFeature	hp	UMLS:C4024740		Absent/small retina|Absent/underdeveloped retina	http://purl.obolibrary.org/obo/HP_0008061	
HP:0008062	Aplasia/Hypoplasia affecting the anterior segment of the eye	biolink:PhenotypicFeature	hp	UMLS:C4024739			http://purl.obolibrary.org/obo/HP_0008062	Absence or underdevelopment of the anterior segment of the eye.
HP:0008063	Aplasia/Hypoplasia of the lens	biolink:PhenotypicFeature	hp	UMLS:C4024738		Absent/small lens|Absent/underdeveloped lens	http://purl.obolibrary.org/obo/HP_0008063	Absence or underdevelopment of the lens.
HP:0008064	Ichthyosis	biolink:PhenotypicFeature	hp	MEDDRA:10021198|MSH:D007057|UMLS:C0020757	hposlim_core	Ichthyosiform abnormality of the skin|Ichthyotic skin|Hypertrophic ichthyosis	http://purl.obolibrary.org/obo/HP_0008064	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	biolink:PhenotypicFeature	hp	UMLS:C4024737		Absent/small skin|Absent/underdeveloped skin	http://purl.obolibrary.org/obo/HP_0008065	
HP:0008066	Abnormal blistering of the skin	biolink:PhenotypicFeature	hp	UMLS:C0241054|UMLS:C2132198|UMLS:C2220104		Abnormal blistering of the skin|Blistering, generalized|Blisters|Skin blisters|Blister|Skin bullae	http://purl.obolibrary.org/obo/HP_0008066	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	biolink:PhenotypicFeature	hp	UMLS:C4024736		Abnormally loose or hyperelastic skin|Abnormally loose or stretchable skin	http://purl.obolibrary.org/obo/HP_0008067	
HP:0008069	Neoplasm of the skin	biolink:PhenotypicFeature	hp	MSH:D012878|NCIT:C3262|SNOMEDCT_US:126488004|SNOMEDCT_US:372130007|UMLS:C0007114|UMLS:C0037286	hposlim_core	Skin cancer (non-melanoma)|Skin tumors|Tumor of the skin|Skin cancer|Dermatological tumors|Neoplasia of the skin	http://purl.obolibrary.org/obo/HP_0008069	A tumor (abnormal growth of tissue) of the skin.
HP:0008070	Sparse hair	biolink:PhenotypicFeature	hp	MEDDRA:10021126|MSH:D007039|SNOMEDCT_US:53602002|SNOMEDCT_US:56558005|UMLS:C0020678|UMLS:C1837770|UMLS:C1860844	hposlim_core	Sparse hair|Thin, sparse hair|Decreased hair growth|Decreased hair growth on body|Hypotrichosis|Marked hypotrichosis|Sparse hair since birth	http://purl.obolibrary.org/obo/HP_0008070	Reduced density of hairs.
HP:0008071	Maternal hypertension	biolink:PhenotypicFeature	hp	SNOMEDCT_US:288250001|UMLS:C0565599			http://purl.obolibrary.org/obo/HP_0008071	Increased blood pressure during a pregnancy.
HP:0008072	Maternal virilization in pregnancy	biolink:PhenotypicFeature	hp	UMLS:C4024735			http://purl.obolibrary.org/obo/HP_0008072	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 serum estriol	biolink:PhenotypicFeature	hp	UMLS:C4024734		Low maternal serum estriol	http://purl.obolibrary.org/obo/HP_0008073	An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.
HP:0008074	Metatarsal periosteal thickening	biolink:PhenotypicFeature	hp	UMLS:C1834349			http://purl.obolibrary.org/obo/HP_0008074	
HP:0008075	Progressive pes cavus	biolink:PhenotypicFeature	hp	UMLS:C1846017			http://purl.obolibrary.org/obo/HP_0008075	The development of Pes cavus that is progressive with age.
HP:0008076	Osteoporotic tarsals	biolink:PhenotypicFeature	hp	UMLS:C1836872			http://purl.obolibrary.org/obo/HP_0008076	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	biolink:PhenotypicFeature	hp	UMLS:C1850162			http://purl.obolibrary.org/obo/HP_0008078	
HP:0008079	Absent fifth metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1867932		Absent 5th long bone of foot|Absent 5th metatarsals|Aplasia of the fifth metatarsal bone	http://purl.obolibrary.org/obo/HP_0008079	A developmental abnormality characterized by the absence of the fifth metatarsal bone.
HP:0008080	Hallux varus	biolink:PhenotypicFeature	hp	MSH:D050488|SNOMEDCT_US:274147008|UMLS:C0546297		Medially deviated halluces	http://purl.obolibrary.org/obo/HP_0008080	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249803006|SNOMEDCT_US:275344002|UMLS:C1578482		Valgus foot deformity	http://purl.obolibrary.org/obo/HP_0008081	An outward deviation of the foot at the talocalcaneal or subtalar joint.
HP:0008082	Medial deviation of the foot	biolink:PhenotypicFeature	hp	UMLS:C2673401			http://purl.obolibrary.org/obo/HP_0008082	
HP:0008083	2nd-5th toe middle phalangeal hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1861376		Underdeveloped 2nd-5th middle toe bones	http://purl.obolibrary.org/obo/HP_0008083	
HP:0008087	Nonossified fifth metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1844712			http://purl.obolibrary.org/obo/HP_0008087	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	biolink:PhenotypicFeature	hp	UMLS:C4024733		Abnormality of the 5th long bone of foot	http://purl.obolibrary.org/obo/HP_0008089	An anomaly of the fifth metatarsal bone.
HP:0008090	Ankylosis of feet small joints	biolink:PhenotypicFeature	hp	UMLS:C4024732			http://purl.obolibrary.org/obo/HP_0008090	
HP:0008093	Short 4th toe	biolink:PhenotypicFeature	hp	UMLS:C1862083		Short 4th toe|Short fourth toe	http://purl.obolibrary.org/obo/HP_0008093	Underdevelopment (hypoplasia) of the fourth toe.
HP:0008094	Widely spaced toes	biolink:PhenotypicFeature	hp	UMLS:C1969238		Widely spaced toes	http://purl.obolibrary.org/obo/HP_0008094	An overall widening of the spaces between the digits.
HP:0008095	Osteolysis of talus	biolink:PhenotypicFeature	hp	UMLS:C4021556		Osteolysis of tali	http://purl.obolibrary.org/obo/HP_0008095	Osteolysis affecting the talus.
HP:0008096	Medially deviated second toe	biolink:PhenotypicFeature	hp	UMLS:C1862147			http://purl.obolibrary.org/obo/HP_0008096	Medial deviation of the second toe.
HP:0008097	Partial fusion of tarsals	biolink:PhenotypicFeature	hp	UMLS:C1844520			http://purl.obolibrary.org/obo/HP_0008097	
HP:0008102	Expanded metatarsals with widened medullary cavities	biolink:PhenotypicFeature	hp	UMLS:C1969289			http://purl.obolibrary.org/obo/HP_0008102	
HP:0008103	Delayed tarsal ossification	biolink:PhenotypicFeature	hp	UMLS:C1846853|UMLS:C4280418		Delayed ankle bone maturation|Tarsal delayed ossification	http://purl.obolibrary.org/obo/HP_0008103	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	biolink:PhenotypicFeature	hp	UMLS:C1867132			http://purl.obolibrary.org/obo/HP_0008107	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	biolink:PhenotypicFeature	hp	UMLS:C1849293|UMLS:C4280417		Accelerated ankle bone maturation|Precociously ossified tarsal bones	http://purl.obolibrary.org/obo/HP_0008108	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	biolink:PhenotypicFeature	hp	MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|UMLS:C0009081			http://purl.obolibrary.org/obo/HP_0008110	
HP:0008111	Broad distal hallux	biolink:PhenotypicFeature	hp	UMLS:C1863403		Broad distal big toe	http://purl.obolibrary.org/obo/HP_0008111	
HP:0008112	Plantar flexion contractures	biolink:PhenotypicFeature	hp	UMLS:C1861239			http://purl.obolibrary.org/obo/HP_0008112	
HP:0008113	Multiple plantar creases	biolink:PhenotypicFeature	hp	UMLS:C1861873			http://purl.obolibrary.org/obo/HP_0008113	
HP:0008114	Metatarsal diaphyseal endosteal sclerosis	biolink:PhenotypicFeature	hp	UMLS:C1840420			http://purl.obolibrary.org/obo/HP_0008114	Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.
HP:0008115	Clinodactyly of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021555|UMLS:C4280416		Curvature of 3rd toe|3rd toe clinodactyly	http://purl.obolibrary.org/obo/HP_0008115	Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).
HP:0008116	Flexion limitation of toes	biolink:PhenotypicFeature	hp	UMLS:C4024731			http://purl.obolibrary.org/obo/HP_0008116	Limitation of the ability to bend the toes.
HP:0008117	Shortening of the talar neck	biolink:PhenotypicFeature	hp	UMLS:C1843985			http://purl.obolibrary.org/obo/HP_0008117	
HP:0008119	Deformed tarsal bones	biolink:PhenotypicFeature	hp	UMLS:C1856746		Deformed ankle bones	http://purl.obolibrary.org/obo/HP_0008119	
HP:0008122	Calcaneonavicular fusion	biolink:PhenotypicFeature	hp	UMLS:C4024730			http://purl.obolibrary.org/obo/HP_0008122	Synostosis of the calcaneus with the navicular bone.
HP:0008124	Talipes calcaneovarus	biolink:PhenotypicFeature	hp	MSH:D000070558|SNOMEDCT_US:30449003|UMLS:C0265646			http://purl.obolibrary.org/obo/HP_0008124	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	biolink:PhenotypicFeature	hp	UMLS:C1859224			http://purl.obolibrary.org/obo/HP_0008125	
HP:0008127	Bipartite calcaneus	biolink:PhenotypicFeature	hp	UMLS:C1835574		Delayed coalescence of bipartite calcanei|Delayed coalescence of calcaneal ossification centers|Delayed fusion of bipartite calcanei|Double calcaneal ossification center|Extra calcaneal ossification center	http://purl.obolibrary.org/obo/HP_0008127	A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.
HP:0008131	Tarsal stippling	biolink:PhenotypicFeature	hp	UMLS:C1844848		Punctate calcifications of tarsals|Punctate tarsal calcification	http://purl.obolibrary.org/obo/HP_0008131	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.
HP:0008132	Medial rotation of the medial malleolus	biolink:PhenotypicFeature	hp	UMLS:C3805726			http://purl.obolibrary.org/obo/HP_0008132	
HP:0008133	Distal tapering of metatarsals	biolink:PhenotypicFeature	hp	UMLS:C4024729			http://purl.obolibrary.org/obo/HP_0008133	
HP:0008134	Irregular tarsal ossification	biolink:PhenotypicFeature	hp	UMLS:C4021554|UMLS:C4280415		Irregular ankle bone maturation|Irregular tarsal centers	http://purl.obolibrary.org/obo/HP_0008134	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	biolink:PhenotypicFeature	hp	UMLS:C1860449		Equinus deformity of the calcaneus|Hindfoot equinus	http://purl.obolibrary.org/obo/HP_0008138	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:263030002|UMLS:C0434717		Dislocation of toes	http://purl.obolibrary.org/obo/HP_0008141	
HP:0008142	Delayed calcaneal ossification	biolink:PhenotypicFeature	hp	UMLS:C4024728|UMLS:C4280414		Delayed heel bone maturation	http://purl.obolibrary.org/obo/HP_0008142	Delayed maturation and calcification of the calcaneus.
HP:0008144	Flattening of the talar dome	biolink:PhenotypicFeature	hp	UMLS:C1843986			http://purl.obolibrary.org/obo/HP_0008144	
HP:0008148	Impaired epinephrine-induced platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C4024727			http://purl.obolibrary.org/obo/HP_0008148	Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
HP:0008150	Elevated serum transaminases during infections	biolink:PhenotypicFeature	hp	UMLS:C1864179			http://purl.obolibrary.org/obo/HP_0008150	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:409674002|UMLS:C0151872		Increased INR|Prolonged PT|increased international normalised ratio|Increased international normalized ratio|Low factor II activity|Reduced factor II activity|Reduced prothrombin activity	http://purl.obolibrary.org/obo/HP_0008151	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	biolink:PhenotypicFeature	hp	UMLS:C4021553		Hypokalemic periodic paresis	http://purl.obolibrary.org/obo/HP_0008153	Episodes of muscle weakness associated with reduced levels of potassium in the blood.
HP:0008155	Mucopolysacchariduria	biolink:PhenotypicFeature	hp	UMLS:C4024726			http://purl.obolibrary.org/obo/HP_0008155	Excessive amounts of mucopolysaccharide in the urine.
HP:0008158	Hyperapobetalipoproteinemia	biolink:PhenotypicFeature	hp	MSH:D006950|SNOMEDCT_US:238040008|SNOMEDCT_US:299465007|UMLS:C0020474			http://purl.obolibrary.org/obo/HP_0008158	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	biolink:PhenotypicFeature	hp	UMLS:C4024725			http://purl.obolibrary.org/obo/HP_0008160	An increase in the level of 3-hydroxydicarboxylic acid in the urine.
HP:0008161	Absent leukocyte alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4024724		Absent leukocyte ALP	http://purl.obolibrary.org/obo/HP_0008161	Alkaline phosphatase levels measured within leukocytes is below detectable levels.
HP:0008162	Asymptomatic hyperammonemia	biolink:PhenotypicFeature	hp	UMLS:C4021552		Hyperammonemia, asymptomatic	http://purl.obolibrary.org/obo/HP_0008162	An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.
HP:0008163	Decreased circulating cortisol level	biolink:PhenotypicFeature	hp	UMLS:C1833054|UMLS:C1836623|UMLS:C1846225		Low blood cortisol level|Decreased cortisol production|Glucocorticoid insufficiency|Hypocortisolemia|Low to undetectable plasma cortisol|Plasma cortisol low|Hypocortisolism	http://purl.obolibrary.org/obo/HP_0008163	Abnormally reduced concentration of cortisol in the blood.
HP:0008165	Decreased helper T cell proportion	biolink:PhenotypicFeature	hp	UMLS:C4024723		Decreased proportion circulating T-helper cells|Reduced helper T cell proportion	http://purl.obolibrary.org/obo/HP_0008165	Reduced proportion of helper T cells relative to the total number of T cells.
HP:0008166	Decreased beta-galactosidase activity	biolink:PhenotypicFeature	hp	MSH:D016537|SNOMEDCT_US:238025006|UMLS:C0085131|UMLS:C1854788|UMLS:C1856559		Beta-galactosidase deficiency in fibroblasts and white blood cells|Beta-galactosidase-1 deficiency|Decreased beta galactosidase activity	http://purl.obolibrary.org/obo/HP_0008166	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	biolink:PhenotypicFeature	hp	UMLS:C3279397			http://purl.obolibrary.org/obo/HP_0008167	
HP:0008169	Reduced factor VII activity	biolink:PhenotypicFeature	hp	MSH:D005168|SNOMEDCT_US:37193007|UMLS:C0015503|UMLS:C4024722		Factor VII deficiency	http://purl.obolibrary.org/obo/HP_0008169	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:281611002|UMLS:C0559506			http://purl.obolibrary.org/obo/HP_0008176	
HP:0008178	Abnormal cartilage matrix	biolink:PhenotypicFeature	hp	UMLS:C4024721			http://purl.obolibrary.org/obo/HP_0008178	
HP:0008179	Decreased Arden ratio of electrooculogram	biolink:PhenotypicFeature	hp	UMLS:C4024720		Decreased Arden ratio of EOG	http://purl.obolibrary.org/obo/HP_0008179	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	biolink:PhenotypicFeature	hp	UMLS:C1850309		Mildly elevated CPK|Mildly elevated serum CK|Mildly elevated serum CPK|Mildly elevated serum phospho-CK|Moderately elevated serum CK|Moderately elevated serum CPK|Mildly elevated creatine phosphokinase|Mildly increased creatine kinase|Mildly increased serum creatine kinase|Moderately increased serum creatine kinase	http://purl.obolibrary.org/obo/HP_0008180	
HP:0008181	Abetalipoproteinemia	biolink:PhenotypicFeature	hp	MSH:D000012|SNOMEDCT_US:190787008|UMLS:C0000744			http://purl.obolibrary.org/obo/HP_0008181	An absence of low-density lipoprotein cholesterol in the blood.
HP:0008182	Adrenocortical hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4024719		Small adrenal cortex	http://purl.obolibrary.org/obo/HP_0008182	
HP:0008185	Precocious puberty in males	biolink:PhenotypicFeature	hp	UMLS:C1859979		Early onset of puberty in males|Male precocious puberty	http://purl.obolibrary.org/obo/HP_0008185	The onset of puberty before the age of 9 years in boys.
HP:0008186	Adrenocortical cytomegaly	biolink:PhenotypicFeature	hp	UMLS:C1851720			http://purl.obolibrary.org/obo/HP_0008186	The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.
HP:0008187	Absence of secondary sex characteristics	biolink:PhenotypicFeature	hp	UMLS:C4021551		No secondary sexual characteristics at puberty	http://purl.obolibrary.org/obo/HP_0008187	No secondary sexual characteristics are present at puberty.
HP:0008188	Thyroid dysgenesis	biolink:PhenotypicFeature	hp	MSH:D050033|UMLS:C1563716		Thyroid dysplasia	http://purl.obolibrary.org/obo/HP_0008188	
HP:0008189	Insulin insensitivity	biolink:PhenotypicFeature	hp	UMLS:C1864570			http://purl.obolibrary.org/obo/HP_0008189	Decreased sensitivity toward insulin.
HP:0008191	Thyroid agenesis	biolink:PhenotypicFeature	hp	MSH:D050033|UMLS:C0749420|UMLS:C4020805		Athyroidal hypothyroidism	http://purl.obolibrary.org/obo/HP_0008191	The congenital absence of the thyroid gland.
HP:0008193	Primary gonadal insufficiency	biolink:PhenotypicFeature	hp	UMLS:C1859014			http://purl.obolibrary.org/obo/HP_0008193	
HP:0008194	Multiple pancreatic beta-cell adenomas	biolink:PhenotypicFeature	hp	UMLS:C4024718			http://purl.obolibrary.org/obo/HP_0008194	The presence of multiple pancreatic islet cell adenomas.
HP:0008197	Absence of pubertal development	biolink:PhenotypicFeature	hp	UMLS:C1846228			http://purl.obolibrary.org/obo/HP_0008197	
HP:0008198	Congenital hypoparathyroidism	biolink:PhenotypicFeature	hp	UMLS:C1455734		Neonatal hypoparathyroidism	http://purl.obolibrary.org/obo/HP_0008198	Deficiency of parathyroid hormone with congenital onset.
HP:0008200	Primary hyperparathyroidism	biolink:PhenotypicFeature	hp	MSH:D049950|SNOMEDCT_US:36348003|UMLS:C0221002			http://purl.obolibrary.org/obo/HP_0008200	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	biolink:PhenotypicFeature	hp	MSH:C562708|SNOMEDCT_US:67873006|UMLS:C0271586		Prolactin deficiency	http://purl.obolibrary.org/obo/HP_0008202	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	biolink:PhenotypicFeature	hp	UMLS:C1868007		Precocious puberty with Sertoli cell tumour	http://purl.obolibrary.org/obo/HP_0008204	
HP:0008205	Insulin-dependent but ketosis-resistant diabetes	biolink:PhenotypicFeature	hp	UMLS:C1842404			http://purl.obolibrary.org/obo/HP_0008205	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	biolink:PhenotypicFeature	hp	MSH:D000224|SNOMEDCT_US:363732003|SNOMEDCT_US:373662000|SNOMEDCT_US:386584007|UMLS:C0001403|UMLS:C0405580		Adrenocortical insufficiency|Primary adrenocortical failure|Addison disease|Addison's disease	http://purl.obolibrary.org/obo/HP_0008207	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9092004|UMLS:C0271844		Enlarged parathyroid glands	http://purl.obolibrary.org/obo/HP_0008208	Hyperplasia of the parathyroid gland.
HP:0008209	Premature ovarian insufficiency	biolink:PhenotypicFeature	hp	MSH:D008594|MSH:D016649|SNOMEDCT_US:373717006|UMLS:C0025322|UMLS:C0085215		Early menopause|Premature menopause|Premature ovarian failure|Climacterium praecox|Hypergonadotropic amenorrhea|Menopause praecox|Primary ovarian insufficiency	http://purl.obolibrary.org/obo/HP_0008209	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	biolink:PhenotypicFeature	hp	MSH:C563238|SNOMEDCT_US:73291005|UMLS:C1321907		Parathyroid absence|Parathyroid aplasia	http://purl.obolibrary.org/obo/HP_0008211	Aplasia of the parathyroid gland.
HP:0008213	Gonadotropin deficiency	biolink:PhenotypicFeature	hp	MSH:D007006|SNOMEDCT_US:33927004|UMLS:C0271623		Pituitary gonadotropin deficiency	http://purl.obolibrary.org/obo/HP_0008213	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:166449002|UMLS:C0241011		Decreased serum estradiol	http://purl.obolibrary.org/obo/HP_0008214	A reduction below normal concentration of estradiol in the circulation.
HP:0008216	Adrenal gland dysgenesis	biolink:PhenotypicFeature	hp	UMLS:C1856017		Adrenal gland dysplasia|Dysplastic adrenal glands	http://purl.obolibrary.org/obo/HP_0008216	Abnormal development of the adrenal gland.
HP:0008221	Adrenal hyperplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:419920004|UMLS:C1621895		Enlarged adrenal glands	http://purl.obolibrary.org/obo/HP_0008221	Enlargement of the adrenal gland.
HP:0008222	Female infertility	biolink:PhenotypicFeature	hp	MSH:D007247|SNOMEDCT_US:6738008|UMLS:C0021361		Female infertility	http://purl.obolibrary.org/obo/HP_0008222	
HP:0008223	Compensated hypothyroidism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237523006|UMLS:C0342162		Mild hypothyroidism|Subclinical hypothyroidism	http://purl.obolibrary.org/obo/HP_0008223	Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).
HP:0008225	Thyroid follicular hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C1969546			http://purl.obolibrary.org/obo/HP_0008225	
HP:0008226	Androgen insufficiency	biolink:PhenotypicFeature	hp	SNOMEDCT_US:38825009|UMLS:C0342527		Hypoandrogenism	http://purl.obolibrary.org/obo/HP_0008226	Insufficient amount of androgenic activity.
HP:0008227	Pituitary resistance to thyroid hormone	biolink:PhenotypicFeature	hp	SNOMEDCT_US:360348000|SNOMEDCT_US:360353005|UMLS:C0342198			http://purl.obolibrary.org/obo/HP_0008227	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	biolink:PhenotypicFeature	hp	UMLS:C1856129		Thyroid lymphangiectasis	http://purl.obolibrary.org/obo/HP_0008229	The presence of lymphangiectasis of the thyroid gland.
HP:0008230	obsolete Decreased testosterone in males	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008230	
HP:0008231	Macronodular adrenal hyperplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237778003|UMLS:C0342495			http://purl.obolibrary.org/obo/HP_0008231	
HP:0008232	Elevated circulating follicle stimulating hormone level	biolink:PhenotypicFeature	hp	UMLS:C4021550		Elevated FSH level|Elevated follicle stimulating hormone|Elevated follicle-stimulating hormone|Elevated plasma follicle stimulating hormone|Increased circulating follicle stimulating hormone level	http://purl.obolibrary.org/obo/HP_0008232	An elevated concentration of follicle-stimulating hormone in the blood.
HP:0008233	Decreased circulating progesterone	biolink:PhenotypicFeature	hp	UMLS:C1858995		Decreased serum progesterone	http://purl.obolibrary.org/obo/HP_0008233	An reduced concentration of progesterone in the blood.
HP:0008236	Isosexual precocious puberty	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4294006|UMLS:C0271528			http://purl.obolibrary.org/obo/HP_0008236	
HP:0008237	Hypothalamic hypothyroidism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37429009|UMLS:C0220998		Tertiary hypothyroidism	http://purl.obolibrary.org/obo/HP_0008237	A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.
HP:0008239	Adrenal medullary hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4024717		Small adrenal medulla	http://purl.obolibrary.org/obo/HP_0008239	Developmental hypoplasia of the adrenal medulla.
HP:0008240	Secondary growth hormone deficiency	biolink:PhenotypicFeature	hp	UMLS:C4024716			http://purl.obolibrary.org/obo/HP_0008240	
HP:0008242	Pseudohypoaldosteronism	biolink:PhenotypicFeature	hp	MSH:D011546|SNOMEDCT_US:77098009|UMLS:C0033805			http://purl.obolibrary.org/obo/HP_0008242	A state of renal tubular unresponsiveness or resistance to the action of aldosterone.
HP:0008244	Congenital adrenal hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93235007|UMLS:C0220766		Congenital adrenal gland hypoplasia	http://purl.obolibrary.org/obo/HP_0008244	A type of adrenal hypoplasia with congenital onset.
HP:0008245	Pituitary hypothyroidism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82598004|UMLS:C3665349		Low thyroid gland function due to abnormal pituitary gland|Secondary hypothyroidism|TSH deficient hypothyroidism|Thyroid stimulating hormone deficiency|Thyrotropin deficiency	http://purl.obolibrary.org/obo/HP_0008245	A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.
HP:0008247	Euthyroid hyperthyroxinemia	biolink:PhenotypicFeature	hp	UMLS:C4021549		Asymptomatic hyperthyroxinemia	http://purl.obolibrary.org/obo/HP_0008247	An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.
HP:0008249	Thyroid hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C1112776		Large thyroid	http://purl.obolibrary.org/obo/HP_0008249	Hyperplasia of the thyroid gland.
HP:0008250	Infantile hypercalcemia	biolink:PhenotypicFeature	hp	MSH:C562999|SNOMEDCT_US:276645004|UMLS:C0475732			http://purl.obolibrary.org/obo/HP_0008250	
HP:0008251	Congenital goiter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276565004|UMLS:C0349476		Congenital goitre	http://purl.obolibrary.org/obo/HP_0008251	An enlargement of the thyroid gland with congenital onset.
HP:0008255	Transient neonatal diabetes mellitus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237603002|UMLS:C0342273			http://purl.obolibrary.org/obo/HP_0008255	
HP:0008256	Adrenocortical adenoma	biolink:PhenotypicFeature	hp	MSH:D018246|SNOMEDCT_US:18365006|SNOMEDCT_US:255036008|SNOMEDCT_US:302826002|UMLS:C0206667		Adrenocortical adenomas	http://purl.obolibrary.org/obo/HP_0008256	Adrenocortical adenomas are benign tumors of the adrenal cortex.
HP:0008258	Congenital adrenal hyperplasia	biolink:PhenotypicFeature	hp	MSH:D000312|SNOMEDCT_US:237751000|UMLS:C0001627			http://purl.obolibrary.org/obo/HP_0008258	A type of adrenal hyperplasia with congenital onset.
HP:0008259	Adrenocorticotropin receptor defect	biolink:PhenotypicFeature	hp	UMLS:C4021548		ACTH receptor defect|ACTHR defect|Adrenocorticotropic hormone-resistant adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0008259	Adrenal insufficiency secondary to a defect in the ACTH receptor.
HP:0008261	Pancreatic islet cell adenoma	biolink:PhenotypicFeature	hp	UMLS:C1851697			http://purl.obolibrary.org/obo/HP_0008261	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	biolink:PhenotypicFeature	hp	UMLS:C1848800			http://purl.obolibrary.org/obo/HP_0008263	
HP:0008264	Neutrophil inclusion bodies	biolink:PhenotypicFeature	hp	UMLS:C4021547			http://purl.obolibrary.org/obo/HP_0008264	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	biolink:PhenotypicFeature	hp	UMLS:C4024715			http://purl.obolibrary.org/obo/HP_0008265	
HP:0008269	Increased red cell hemolysis by shear stress	biolink:PhenotypicFeature	hp	UMLS:C3806125			http://purl.obolibrary.org/obo/HP_0008269	
HP:0008271	Abnormal cartilage collagen	biolink:PhenotypicFeature	hp	UMLS:C4020803|UMLS:C4020804|UMLS:C4021847		Abnormal hyaline collagen|Abnormal type II collagen	http://purl.obolibrary.org/obo/HP_0008271	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	biolink:PhenotypicFeature	hp	UMLS:C4024714			http://purl.obolibrary.org/obo/HP_0008272	
HP:0008273	Transient aminoaciduria	biolink:PhenotypicFeature	hp	UMLS:C4024713			http://purl.obolibrary.org/obo/HP_0008273	
HP:0008275	Abnormal light-adapted electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4024712		Abnormal cone-mediated electroretinogram	http://purl.obolibrary.org/obo/HP_0008275	
HP:0008277	Abnormal blood zinc concentration	biolink:PhenotypicFeature	hp	UMLS:C4020802|UMLS:C4024711		Abnormality of zinc homeostasis|Abnormal zinc metabolism	http://purl.obolibrary.org/obo/HP_0008277	An abnormality of zinc ion homeostasis.
HP:0008278	Cerebellar cortical atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024710		Cerebellar cortex degeneration	http://purl.obolibrary.org/obo/HP_0008278	Atrophy (wasting) of the cerebellar cortex.
HP:0008279	Transient hyperlipidemia	biolink:PhenotypicFeature	hp	UMLS:C1850722			http://purl.obolibrary.org/obo/HP_0008279	
HP:0008281	Acute hyperammonemia	biolink:PhenotypicFeature	hp	UMLS:C1859506		Hyperammonemia, acute	http://purl.obolibrary.org/obo/HP_0008281	An increased concentration of ammonia in the blood with sudden onset.
HP:0008282	Unconjugated hyperbilirubinemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:7752002|UMLS:C0268306			http://purl.obolibrary.org/obo/HP_0008282	An increased amount of unconjugated (indirect) bilurubin in the blood.
HP:0008283	Fasting hyperinsulinemia	biolink:PhenotypicFeature	hp	UMLS:C1864954		High blood insulin levels while fasting	http://purl.obolibrary.org/obo/HP_0008283	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	biolink:PhenotypicFeature	hp	UMLS:C4024709			http://purl.obolibrary.org/obo/HP_0008285	
HP:0008288	Nonketotic hyperglycinemia	biolink:PhenotypicFeature	hp	MSH:D020158|SNOMEDCT_US:237939006|UMLS:C0751748			http://purl.obolibrary.org/obo/HP_0008288	
HP:0008290	Partial complement factor H deficiency	biolink:PhenotypicFeature	hp	UMLS:C4024708			http://purl.obolibrary.org/obo/HP_0008290	A partial reduction in level of the complement component Factor H in circulation.
HP:0008291	Pituitary corticotropic cell adenoma	biolink:PhenotypicFeature	hp	MSH:D049913|SNOMEDCT_US:21109002|SNOMEDCT_US:254958004|UMLS:C1306214		ACTH-producing pituitary adenoma|Corticotropin-secreting pituitary adenoma	http://purl.obolibrary.org/obo/HP_0008291	A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).
HP:0008293	Long-chain dicarboxylic aciduria	biolink:PhenotypicFeature	hp	UMLS:C1837273			http://purl.obolibrary.org/obo/HP_0008293	An increase in the level of long-chain dicarboxylic acid in the urine.
HP:0008297	Transient hyperphenylalaninemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28575006|UMLS:C0268464			http://purl.obolibrary.org/obo/HP_0008297	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	biolink:PhenotypicFeature	hp	UMLS:C1854774		Dermatan sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0008301	An increased concentration of dermatan sulfate in the urine.
HP:0008303	Olivary degeneration	biolink:PhenotypicFeature	hp	UMLS:C4024707			http://purl.obolibrary.org/obo/HP_0008303	Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.
HP:0008305	Exercise-induced myoglobinuria	biolink:PhenotypicFeature	hp	UMLS:C1845155|UMLS:C1860069		Exercise-induced myoglobinuria in adults	http://purl.obolibrary.org/obo/HP_0008305	Presence of myoglobin in the urine following exercise.
HP:0008306	Abnormal iron deposition in mitochondria	biolink:PhenotypicFeature	hp	UMLS:C3151556			http://purl.obolibrary.org/obo/HP_0008306	
HP:0008309	Medium chain dicarboxylic aciduria	biolink:PhenotypicFeature	hp	UMLS:C1860081			http://purl.obolibrary.org/obo/HP_0008309	An increase in the level of medium chain dicarboxylic acid in the urine.
HP:0008311	Spinal cord posterior columns myelin loss	biolink:PhenotypicFeature	hp	UMLS:C4024706			http://purl.obolibrary.org/obo/HP_0008311	
HP:0008314	Decreased activity of mitochondrial complex II	biolink:PhenotypicFeature	hp	UMLS:C4020801|UMLS:C4024705		Respiratory complex II deficiency	http://purl.obolibrary.org/obo/HP_0008314	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	biolink:PhenotypicFeature	hp	UMLS:C4015009			http://purl.obolibrary.org/obo/HP_0008315	A decreased concentration of free (unbound) carnitine in the blood.
HP:0008316	Abnormal mitochondria in muscle tissue	biolink:PhenotypicFeature	hp	UMLS:C4021546		Abnormal mitochondria in muscle	http://purl.obolibrary.org/obo/HP_0008316	An abnormality of the mitochondria in muscle tissue.
HP:0008318	Elevated leukocyte alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4024704		Elevated leukocyte ALP	http://purl.obolibrary.org/obo/HP_0008318	Increased alkaline phosphatase measured within leukocytes.
HP:0008320	Impaired collagen-induced platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C4024703			http://purl.obolibrary.org/obo/HP_0008320	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	biolink:PhenotypicFeature	hp	MSH:D005171|SNOMEDCT_US:76642003|UMLS:C0015519|UMLS:C4024702		Decreased factor x activity|Factor X deficiency	http://purl.obolibrary.org/obo/HP_0008321	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	biolink:PhenotypicFeature	hp	UMLS:C4014650		Abnormal mitochondrion morphology	http://purl.obolibrary.org/obo/HP_0008322	Any structural anomaly of the mitochondria.
HP:0008323	Abnormal light- and dark-adapted electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C3151111		Abnormal rod and cone electroretinogram	http://purl.obolibrary.org/obo/HP_0008323	An abnormality of the combined rod-and-cone response on electroretinogram.
HP:0008326	Reduced circulating vitamin B6 level	biolink:PhenotypicFeature	hp	MSH:D026681|SNOMEDCT_US:386080007|UMLS:C0936215		Reduced vitamin b6 levels|Vitamin B6 deficiency	http://purl.obolibrary.org/obo/HP_0008326	An abnormally decreased concentration of vitamin B6 in the blood circulation.
HP:0008327	Microscopic nephrocalcinosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236444003|UMLS:C0403474			http://purl.obolibrary.org/obo/HP_0008327	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	biolink:PhenotypicFeature	hp	UMLS:C4024701		Decreased von willebrand factor activity	http://purl.obolibrary.org/obo/HP_0008330	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	biolink:PhenotypicFeature	hp	UMLS:C4024700		Elevated CK after exercise|Elevated CPK after exercise|Elevated phospho-CK after exercise|Increased CK after exercise|Elevated creatine phosphokinase after exercise|Elevated phospho-creatine kinase after exercise|Increased creatine kinase after exercise|Increased creatine phosphokinase after exercise|Increased phospho-CK after exercise|Increased phospho-creatine kinase after exercise	http://purl.obolibrary.org/obo/HP_0008331	
HP:0008335	obsolete Renal aminoaciduria	biolink:PhenotypicFeature	hp	MSH:D000608|UMLS:C0002534			http://purl.obolibrary.org/obo/HP_0008335	
HP:0008336	Complex organic aciduria	biolink:PhenotypicFeature	hp	UMLS:C3151953			http://purl.obolibrary.org/obo/HP_0008336	
HP:0008338	Partial functional complement factor D deficiency	biolink:PhenotypicFeature	hp	UMLS:C4024699		Partial functional adipsin deficiency|Partial functional factor d deficiency	http://purl.obolibrary.org/obo/HP_0008338	A partial reduction in level of the complement component Factor D in circulation.
HP:0008339	Diaminoaciduria	biolink:PhenotypicFeature	hp	UMLS:C4024698			http://purl.obolibrary.org/obo/HP_0008339	An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).
HP:0008341	Distal renal tubular acidosis	biolink:PhenotypicFeature	hp	MSH:D000141|SNOMEDCT_US:236461000|SNOMEDCT_US:86210009|UMLS:C1704380		Renal tubular acidosis, type I	http://purl.obolibrary.org/obo/HP_0008341	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	biolink:PhenotypicFeature	hp	UMLS:C4024697			http://purl.obolibrary.org/obo/HP_0008344	An increased concentration of a branched chain amino acid in the blood.
HP:0008345	Hypoplasia of the iris dilator muscle	biolink:PhenotypicFeature	hp	UMLS:C4024696		Hypoplasia of the pupil dilator muscle|Underdeveloped iris dilator muscle|Underdeveloped pupil dilator muscle	http://purl.obolibrary.org/obo/HP_0008345	Underdevelopment of the dilatator pupillae.
HP:0008346	Increased red cell sickling tendency	biolink:PhenotypicFeature	hp	UMLS:C4024695		Increased sickling of erythrocytes|Increased sickling of red cells	http://purl.obolibrary.org/obo/HP_0008346	
HP:0008347	Decreased activity of mitochondrial complex IV	biolink:PhenotypicFeature	hp	UMLS:C4020800		Respiratory complex IV deficiency	http://purl.obolibrary.org/obo/HP_0008347	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	biolink:PhenotypicFeature	hp	UMLS:C4021545		Decreased IgG2 level in blood|Immunoglobulin IgG2 deficiency|Reduced IgG2 levels	http://purl.obolibrary.org/obo/HP_0008348	A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.
HP:0008352	Impaired platelet adhesion	biolink:PhenotypicFeature	hp	UMLS:C4024694		Impaired thrombocytes adhesion	http://purl.obolibrary.org/obo/HP_0008352	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	biolink:PhenotypicFeature	hp	UMLS:C1856194			http://purl.obolibrary.org/obo/HP_0008353	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	biolink:PhenotypicFeature	hp	UMLS:C4024693			http://purl.obolibrary.org/obo/HP_0008354	Reduced ability to transform factor X into its activated form factor Xa.
HP:0008356	obsolete Combined hyperlipidemia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008356	
HP:0008357	Reduced factor XIII activity	biolink:PhenotypicFeature	hp	UMLS:C4024692			http://purl.obolibrary.org/obo/HP_0008357	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59655002|UMLS:C0268528		Prolinemia	http://purl.obolibrary.org/obo/HP_0008358	An increased concentration of proline in the blood.
HP:0008360	Neonatal hypoproteinemia	biolink:PhenotypicFeature	hp	UMLS:C4024691			http://purl.obolibrary.org/obo/HP_0008360	A neonatal decreased concentration of proteins in the blood.
HP:0008361	Corticospinal tract pallor	biolink:PhenotypicFeature	hp	UMLS:C4024690			http://purl.obolibrary.org/obo/HP_0008361	
HP:0008362	Aplasia/Hypoplasia of the hallux	biolink:PhenotypicFeature	hp	UMLS:C1836213		Absent/small big toe|Absent/underdeveloped big toe|Aplastic/hypoplastic halluces	http://purl.obolibrary.org/obo/HP_0008362	Absence or underdevelopment of the big toe.
HP:0008363	Aplasia/Hypoplasia of the tarsal bones	biolink:PhenotypicFeature	hp	UMLS:C1848671		Absent/small ankle bone|Absent/underdeveloped ankle bone|Aplastic/hypoplastic tarsals	http://purl.obolibrary.org/obo/HP_0008363	Absence or underdevelopment of the tarsal bones.
HP:0008364	Abnormality of the calcaneus	biolink:PhenotypicFeature	hp	UMLS:C4024689		Abnormal heel bone	http://purl.obolibrary.org/obo/HP_0008364	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	Abnormality of the talus	biolink:PhenotypicFeature	hp	UMLS:C4024688		Abnormal large bone of ankle	http://purl.obolibrary.org/obo/HP_0008365	An abnormality of the talus.
HP:0008366	Contractures involving the joints of the feet	biolink:PhenotypicFeature	hp	SNOMEDCT_US:239742004|UMLS:C0343149		Contractures of the foot joints	http://purl.obolibrary.org/obo/HP_0008366	
HP:0008368	Tarsal synostosis	biolink:PhenotypicFeature	hp	MSH:D000070604|SNOMEDCT_US:27173008|UMLS:C0265654		Fused ankle bones|Synostosis involving tarsal bones|Synostosis of tarsal bones|Tarsal bone fusion|Tarsal bone synostosis|Tarsal fusion|Tarsal fusions	http://purl.obolibrary.org/obo/HP_0008368	Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
HP:0008369	Abnormal tarsal ossification	biolink:PhenotypicFeature	hp	UMLS:C4021544|UMLS:C4025075		Hardening of ankle bones|Abnormal maturation of ankle bones|Abnormal ossification of tarsal bones	http://purl.obolibrary.org/obo/HP_0008369	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	biolink:PhenotypicFeature	hp	UMLS:C4021543		Abnormal maturation of long bone of foot|Abnormal ossification involving metatarsal bones	http://purl.obolibrary.org/obo/HP_0008371	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	biolink:PhenotypicFeature	hp	UMLS:C4024686			http://purl.obolibrary.org/obo/HP_0008372	
HP:0008373	Puberty and gonadal disorders	biolink:PhenotypicFeature	hp	UMLS:C4024685		Puberty and gonadal disorders	http://purl.obolibrary.org/obo/HP_0008373	
HP:0008376	Nasal, dysarthic speech	biolink:PhenotypicFeature	hp	UMLS:C1834664		Breathy speech	http://purl.obolibrary.org/obo/HP_0008376	
HP:0008383	Slow-growing nails	biolink:PhenotypicFeature	hp	UMLS:C1835238		Slow-growing nails	http://purl.obolibrary.org/obo/HP_0008383	Nails whose growth is slower than normal.
HP:0008386	Aplasia/Hypoplasia of the nails	biolink:PhenotypicFeature	hp	UMLS:C1859077		Absent/small nails|Absent/underdeveloped nails|Absent/hypoplastic nails|Nail aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0008386	Aplasia or developmental hypoplasia of the nail.
HP:0008388	Abnormal toenail morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:700189007|UMLS:C3839753		Abnormality of the toenail|Abnormality of the toenails	http://purl.obolibrary.org/obo/HP_0008388	An anomaly of the toenail.
HP:0008390	Recurrent loss of toenails and fingernails	biolink:PhenotypicFeature	hp	UMLS:C4021542		Recurrent loss of toenails and fingernails|Recurrent shedding of toenails and fingernails	http://purl.obolibrary.org/obo/HP_0008390	Recurrent loss, or shedding, of the nails of the fingers and toes.
HP:0008391	Dystrophic fingernails	biolink:PhenotypicFeature	hp	UMLS:C3551426		Poor fingernail formation	http://purl.obolibrary.org/obo/HP_0008391	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10165000|UMLS:C0038605		Thickened, discolored skin under nail	http://purl.obolibrary.org/obo/HP_0008392	A thickening of the stratum corneum in the region beneath the nails.
HP:0008393	Congenital curved nail of fourth toe	biolink:PhenotypicFeature	hp	UMLS:C4024684			http://purl.obolibrary.org/obo/HP_0008393	
HP:0008394	Congenital onychodystrophy	biolink:PhenotypicFeature	hp	UMLS:C1393669|UMLS:C4280413		Congenital malformed nails	http://purl.obolibrary.org/obo/HP_0008394	
HP:0008396	Chronic monilial nail infection	biolink:PhenotypicFeature	hp	UMLS:C4024683			http://purl.obolibrary.org/obo/HP_0008396	Chronic infection of the nails by Candida species.
HP:0008398	Hypoplastic fifth fingernail	biolink:PhenotypicFeature	hp	UMLS:C4024682		Underdeveloped fifth fingernail|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinkie finger|Underdeveloped fingernail of pinky finger	http://purl.obolibrary.org/obo/HP_0008398	A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.
HP:0008399	Circumungual hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C4024681		Thick skin around nails	http://purl.obolibrary.org/obo/HP_0008399	A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.
HP:0008400	Onycholysis of distal fingernails	biolink:PhenotypicFeature	hp	UMLS:C4024680		Detachment of outermost fingernails	http://purl.obolibrary.org/obo/HP_0008400	Detachment of the distal fingernails from the nail bed.
HP:0008401	Onychogryposis of toenails	biolink:PhenotypicFeature	hp	UMLS:C4024679		Overgrowth and curving of toenails	http://purl.obolibrary.org/obo/HP_0008401	Thickened toenails.
HP:0008402	Ridged fingernail	biolink:PhenotypicFeature	hp	UMLS:C1849392		Longitudinally grooved fingernails|Ridged fingernail|Ridged fingernails	http://purl.obolibrary.org/obo/HP_0008402	Longitudinal, linear prominences in the fingernail plate.
HP:0008404	Nail dystrophy	biolink:PhenotypicFeature	hp	MEDDRA:10028698|SNOMEDCT_US:87065009|UMLS:C0221260		Poor nail formation|Dystrophic nails|Onychodystrophy	http://purl.obolibrary.org/obo/HP_0008404	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	biolink:PhenotypicFeature	hp	UMLS:C1855290		Tightly curved thumb nail	http://purl.obolibrary.org/obo/HP_0008407	
HP:0008410	Subungual hyperkeratotic fragments	biolink:PhenotypicFeature	hp	UMLS:C1852311			http://purl.obolibrary.org/obo/HP_0008410	
HP:0008414	Lumbar kyphosis in infancy	biolink:PhenotypicFeature	hp	UMLS:C1863423		Hunched back in infancy|Round back in infancy	http://purl.obolibrary.org/obo/HP_0008414	
HP:0008416	Six lumbar vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1839279			http://purl.obolibrary.org/obo/HP_0008416	
HP:0008417	Vertebral hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205456006|UMLS:C0345394	hposlim_core	Underdeveloped vertebrae	http://purl.obolibrary.org/obo/HP_0008417	Small, underdeveloped vertebral bodies.
HP:0008418	Squared-off platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C1849051			http://purl.obolibrary.org/obo/HP_0008418	
HP:0008419	Intervertebral disc degeneration	biolink:PhenotypicFeature	hp	MSH:D055959|SNOMEDCT_US:77547008|UMLS:C0158266		Degeneration of intervertebral disks|Degenerative disc disease|Degenerative intervertebral disk	http://purl.obolibrary.org/obo/HP_0008419	The presence of degenerative changes of intervertebral disk.
HP:0008420	Punctate vertebral calcifications	biolink:PhenotypicFeature	hp	UMLS:C4024678			http://purl.obolibrary.org/obo/HP_0008420	The presence of punctiform calcification of the bone of the vertebral bodies.
HP:0008421	Tall lumbar vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1863313			http://purl.obolibrary.org/obo/HP_0008421	
HP:0008422	Vertebral wedging	biolink:PhenotypicFeature	hp	UMLS:C1695776		Wedge-shaped vertebrae|Wedged vertebrae|anterior wedging	http://purl.obolibrary.org/obo/HP_0008422	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	biolink:PhenotypicFeature	hp	UMLS:C4021853			http://purl.obolibrary.org/obo/HP_0008423	The presence of developmental dysplasia of the vertebral column.
HP:0008424	Hypoplastic 5th lumbar vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1859366		Underdeveloped 5th lumbar vertebrae	http://purl.obolibrary.org/obo/HP_0008424	
HP:0008425	Cuboid-shaped thoracolumbar vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1855289			http://purl.obolibrary.org/obo/HP_0008425	
HP:0008428	Vertebral clefting	biolink:PhenotypicFeature	hp	UMLS:C1855828		Vertebral clefts	http://purl.obolibrary.org/obo/HP_0008428	Schisis (cleft or cleavage) of vertebral bodies.
HP:0008430	Anterior beaking of lumbar vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4021541		Anterior tongue-like protrusion of lumbar vertebral bodies	http://purl.obolibrary.org/obo/HP_0008430	Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
HP:0008432	Anterior wedging of L1	biolink:PhenotypicFeature	hp	UMLS:C4024677			http://purl.obolibrary.org/obo/HP_0008432	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	biolink:PhenotypicFeature	hp	UMLS:C4024676			http://purl.obolibrary.org/obo/HP_0008433	
HP:0008434	Hypoplastic cervical vertebrae	biolink:PhenotypicFeature	hp	UMLS:C1835570		Cervical vertebrae hypoplasia|Underdeveloped cervical vertebrae	http://purl.obolibrary.org/obo/HP_0008434	
HP:0008435	Absent in utero ossification of vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1842698			http://purl.obolibrary.org/obo/HP_0008435	
HP:0008436	Absent/hypoplastic coccyx	biolink:PhenotypicFeature	hp	UMLS:C1856644		Absent/small tailbone|Absent/underdeveloped tailbone	http://purl.obolibrary.org/obo/HP_0008436	
HP:0008437	Bifid thoracic vertebrae	biolink:PhenotypicFeature	hp	UMLS:C2751478			http://purl.obolibrary.org/obo/HP_0008437	
HP:0008438	Vertebral arch anomaly	biolink:PhenotypicFeature	hp	UMLS:C1835764		Vertebral arch abnormalities	http://purl.obolibrary.org/obo/HP_0008438	A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.
HP:0008439	Lumbar hemivertebrae	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93167001|UMLS:C0432149			http://purl.obolibrary.org/obo/HP_0008439	Absence of one half of the vertebral body in the lumbar spine.
HP:0008440	C1-C2 vertebral abnormality	biolink:PhenotypicFeature	hp	UMLS:C4024675			http://purl.obolibrary.org/obo/HP_0008440	Any abnormality of the atlas and the axis.
HP:0008441	Herniation of intervertebral nuclei	biolink:PhenotypicFeature	hp	MSH:D007405|SNOMEDCT_US:73589001|UMLS:C0021818|UMLS:C1832597	hposlim_core	Herniated disk|Herniated intervertebral nuclei	http://purl.obolibrary.org/obo/HP_0008441	The presence of one or more herniated nucleus pulposus of intervertebral disk.
HP:0008442	Vertebral hyperostosis	biolink:PhenotypicFeature	hp	UMLS:C1834057			http://purl.obolibrary.org/obo/HP_0008442	Excessive growth of the bones of the vertebral bodies.
HP:0008443	Spinal deformities	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298380006|UMLS:C0575157			http://purl.obolibrary.org/obo/HP_0008443	
HP:0008444	Posterior wedging of vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1969679		Posterior wedging	http://purl.obolibrary.org/obo/HP_0008444	An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).
HP:0008445	Cervical spinal canal stenosis	biolink:PhenotypicFeature	hp	UMLS:C1844925		Narrow cervical spinal canal	http://purl.obolibrary.org/obo/HP_0008445	An abnormal narrowing of the cervical spinal canal.
HP:0008447	Hypoplastic coccygeal vertebrae	biolink:PhenotypicFeature	hp	UMLS:C2751480			http://purl.obolibrary.org/obo/HP_0008447	
HP:0008449	Progressive cervical vertebral spine fusion	biolink:PhenotypicFeature	hp	UMLS:C1851129			http://purl.obolibrary.org/obo/HP_0008449	
HP:0008450	Narrow vertebral interpedicular distance	biolink:PhenotypicFeature	hp	UMLS:C1832598	hposlim_core	Interpedicular narrowing|Narrow interpedicular space|Narrow interpediculate distances|Narrowing of interpediculate distances	http://purl.obolibrary.org/obo/HP_0008450	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	biolink:PhenotypicFeature	hp	UMLS:C1856780			http://purl.obolibrary.org/obo/HP_0008451	
HP:0008452	Wafer-thin platyspondyly	biolink:PhenotypicFeature	hp	UMLS:C1865124			http://purl.obolibrary.org/obo/HP_0008452	
HP:0008453	Congenital kyphoscoliosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405772002|UMLS:C0345392			http://purl.obolibrary.org/obo/HP_0008453	
HP:0008454	Lumbar kyphosis	biolink:PhenotypicFeature	hp	UMLS:C1844818		Rounded lower back|Lumbar gibbus deformity	http://purl.obolibrary.org/obo/HP_0008454	Over curvature of the lumbar region.
HP:0008455	Dysplastic sacrum	biolink:PhenotypicFeature	hp	UMLS:C1851305		Absence of some of the sacral and coccygeal bones|Partial sacral agenesis|Sacral dysgenesis	http://purl.obolibrary.org/obo/HP_0008455	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	biolink:PhenotypicFeature	hp	UMLS:C2678323			http://purl.obolibrary.org/obo/HP_0008456	A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.
HP:0008457	Caudal interpedicular narrowing	biolink:PhenotypicFeature	hp	UMLS:C1863734		Caudal narrowing of interpedicular distances	http://purl.obolibrary.org/obo/HP_0008457	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	biolink:PhenotypicFeature	hp	UMLS:C1857025			http://purl.obolibrary.org/obo/HP_0008458	A progressive form of scoliosis with congenital onset.
HP:0008459	Cervical vertebral agenesis	biolink:PhenotypicFeature	hp	MSH:C562952|SNOMEDCT_US:91880006|UMLS:C0432160		Cervical vertebrae agenesis|Missing cervical vertebrae	http://purl.obolibrary.org/obo/HP_0008459	Agenesis of one or more vertebrae of the cervical vertebral column.
HP:0008460	Hypoplastic spinal processes	biolink:PhenotypicFeature	hp	UMLS:C4024674		Underdeveloped spinal processes	http://purl.obolibrary.org/obo/HP_0008460	
HP:0008461	Cervical vertebral facet hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4024673			http://purl.obolibrary.org/obo/HP_0008461	
HP:0008462	Cervical instability	biolink:PhenotypicFeature	hp	UMLS:C1863314			http://purl.obolibrary.org/obo/HP_0008462	
HP:0008463	Central vertebral hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4024672			http://purl.obolibrary.org/obo/HP_0008463	
HP:0008464	Absent spinous processes of lower thoracic and lumbar vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4024671			http://purl.obolibrary.org/obo/HP_0008464	
HP:0008465	Absent vertebra	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15843004|UMLS:C0158776		Absent vertebrae	http://purl.obolibrary.org/obo/HP_0008465	A developmental defect characterized by agenesis of one or more vertebral bodies.
HP:0008467	Thoracic hemivertebrae	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95304000|UMLS:C0432152|UMLS:C4020799		Midthoracic hemivertebrae	http://purl.obolibrary.org/obo/HP_0008467	Absence of one half of the vertebral body in the thoracic spine.
HP:0008468	Abnormal sacral segmentation	biolink:PhenotypicFeature	hp	UMLS:C1968942			http://purl.obolibrary.org/obo/HP_0008468	An abnormality related to a defect of vertebral separation of sacral vertebrae during development.
HP:0008469	Cervical vertebral dysplasia	biolink:PhenotypicFeature	hp	MSH:C566140|UMLS:C1861693			http://purl.obolibrary.org/obo/HP_0008469	Dysplasia of the cervical vertebral column.
HP:0008470	Lower thoracic interpediculate narrowness	biolink:PhenotypicFeature	hp	UMLS:C1854940		Narrowness of interpediculate distances in lower thoracic regions	http://purl.obolibrary.org/obo/HP_0008470	A reduction of the distance between the lower thoracic vertebral pedicles.
HP:0008472	Prominent protruding coccyx	biolink:PhenotypicFeature	hp	UMLS:C1850044|UMLS:C4280412		Large tailbone|Prominent protruding tailbone	http://purl.obolibrary.org/obo/HP_0008472	
HP:0008473	Narrow anterio-posterior vertebral body diameter	biolink:PhenotypicFeature	hp	UMLS:C4021540		Reduced anterior-posterior diameter of vertebral bodies|Reduced sagittal diameter of vertebrae	http://purl.obolibrary.org/obo/HP_0008473	An abnormal reduction of the anterioposterior diameter of the vertebral body.
HP:0008475	Hypoplastic sacral vertebrae	biolink:PhenotypicFeature	hp	UMLS:C2751479			http://purl.obolibrary.org/obo/HP_0008475	
HP:0008476	Irregular sclerotic endplates	biolink:PhenotypicFeature	hp	UMLS:C1868554		irregular, dense end plate	http://purl.obolibrary.org/obo/HP_0008476	
HP:0008477	Poorly ossified cervical vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4024670			http://purl.obolibrary.org/obo/HP_0008477	Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.
HP:0008478	Scheuermann-like vertebral changes	biolink:PhenotypicFeature	hp	UMLS:C1844926			http://purl.obolibrary.org/obo/HP_0008478	
HP:0008479	Hypoplastic vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C1863353		Underdeveloped back bones|Small vertebrae|Small vertebral bodies	http://purl.obolibrary.org/obo/HP_0008479	
HP:0008480	Cervical spondylosis	biolink:PhenotypicFeature	hp	MSH:D055009|SNOMEDCT_US:387800004|SNOMEDCT_US:387801000|UMLS:C0263854|UMLS:C1384641		Neck arthritis|Cervical oestoarthritis	http://purl.obolibrary.org/obo/HP_0008480	The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.
HP:0008482	Asymmetry of spinal facet joints	biolink:PhenotypicFeature	hp	UMLS:C4024669			http://purl.obolibrary.org/obo/HP_0008482	
HP:0008483	Cervical vertebral bodies with decreased anteroposterior diameter	biolink:PhenotypicFeature	hp	UMLS:C1847393			http://purl.obolibrary.org/obo/HP_0008483	
HP:0008484	Thoracolumbar interpediculate narrowness	biolink:PhenotypicFeature	hp	UMLS:C1864364		Narrow thoracolumbar interpediculate distance	http://purl.obolibrary.org/obo/HP_0008484	A reduction of the distance between thoracolumbar vertebral pedicles.
HP:0008486	Lumbar interpedicular narrowing	biolink:PhenotypicFeature	hp	UMLS:C1849079		Decreasing lumbar vertebrae interpediculate distance	http://purl.obolibrary.org/obo/HP_0008486	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	biolink:PhenotypicFeature	hp	UMLS:C1850043			http://purl.obolibrary.org/obo/HP_0008488	
HP:0008489	Spondylolisthesis at L5-S1	biolink:PhenotypicFeature	hp	UMLS:C3275799		Spondylolysis and spondylolisthesis of l5	http://purl.obolibrary.org/obo/HP_0008489	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	biolink:PhenotypicFeature	hp	UMLS:C1850329			http://purl.obolibrary.org/obo/HP_0008490	
HP:0008491	Premature anterior fontanel closure	biolink:PhenotypicFeature	hp	UMLS:C4024668			http://purl.obolibrary.org/obo/HP_0008491	Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
HP:0008494	Inferior lens subluxation	biolink:PhenotypicFeature	hp	UMLS:C2036842		Inferior subluxated lens	http://purl.obolibrary.org/obo/HP_0008494	Partial displacement of the lens in the inferior direction.
HP:0008496	Multiple rows of eyelashes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95339000|UMLS:C0423848|UMLS:C3550336		Extra rows of eyelashes|Multiple rows of eyelashes|Double row of eyelashes|Two rows of eyelashes	http://purl.obolibrary.org/obo/HP_0008496	
HP:0008497	Congenital craniofacial dysostosis	biolink:PhenotypicFeature	hp	UMLS:C4024667			http://purl.obolibrary.org/obo/HP_0008497	
HP:0008498	No permanent dentition	biolink:PhenotypicFeature	hp	UMLS:C4024666		Absence of adult teeth|Missing adult teeth|Absence of secondary dentition|No adult dentition|No secondary dentition	http://purl.obolibrary.org/obo/HP_0008498	
HP:0008499	High hypermetropia	biolink:PhenotypicFeature	hp	UMLS:C4024665		Severe farsightedness|Severe long-sightedness|High hyperopia|High-grade hypermetropia	http://purl.obolibrary.org/obo/HP_0008499	A severe form of hypermetropia with over +5.00 diopters.
HP:0008501	Median cleft lip and palate	biolink:PhenotypicFeature	hp	UMLS:C2750604		Central cleft lip and palate|Midline cleft lip/palate|Medial cleft lip and palate|Wide midline cleft lip/palate	http://purl.obolibrary.org/obo/HP_0008501	Cleft lip or palate affecting the midline region of the palate.
HP:0008504	Moderate sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4020798|UMLS:C4024664		Moderate neural deafness	http://purl.obolibrary.org/obo/HP_0008504	The presence of a moderate form of sensorineural hearing impairment.
HP:0008507	Static ophthalmoparesis	biolink:PhenotypicFeature	hp	UMLS:C4024663			http://purl.obolibrary.org/obo/HP_0008507	
HP:0008509	Aged leonine appearance	biolink:PhenotypicFeature	hp	UMLS:C3550331			http://purl.obolibrary.org/obo/HP_0008509	
HP:0008511	Central posterior corneal opacity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246967007|UMLS:C0423260			http://purl.obolibrary.org/obo/HP_0008511	Reduced transparency of the central posterior portion of the corneal stroma.
HP:0008513	Bilateral conductive hearing impairment	biolink:PhenotypicFeature	hp	SNOMEDCT_US:194417009|UMLS:C0452136		Bilateral conductive deafness|Bilateral conductive hearing loss	http://purl.obolibrary.org/obo/HP_0008513	A bilateral type of conductive hearing impairment.
HP:0008515	Aplasia/Hypoplasia of the vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4024662		Absent/small vertebrae|Absent/underdeveloped vertebrae	http://purl.obolibrary.org/obo/HP_0008515	
HP:0008516	Abnormality of the vertebral spinous processes	biolink:PhenotypicFeature	hp	UMLS:C4024661			http://purl.obolibrary.org/obo/HP_0008516	
HP:0008517	Aplasia/Hypoplasia of the sacrum	biolink:PhenotypicFeature	hp	UMLS:C4024660		Absent/small sacrum|Absent/underdeveloped sacrum	http://purl.obolibrary.org/obo/HP_0008517	Aplasia or developmental hypoplasia of the sacral bone.
HP:0008518	Aplasia/Hypoplasia involving the vertebral column	biolink:PhenotypicFeature	hp	UMLS:C4024659		Absent/small backbone|Absent/small spine|Absent/small vertebral column|Absent/underdeveloped backbone|Absent/underdeveloped spine|Absent/underdeveloped vertebral column	http://purl.obolibrary.org/obo/HP_0008518	
HP:0008519	Abnormal coccyx morphology	biolink:PhenotypicFeature	hp	UMLS:C4024658		Abnormal tailbone|Abnormality of the coccyx	http://purl.obolibrary.org/obo/HP_0008519	Any structural abnormality of the coccyx.
HP:0008523	Posterior helix pit	biolink:PhenotypicFeature	hp	UMLS:C4021539	hposlim_core	Indentation in back of outer ear|Ear, posterior helical groove|Ear, posterior helical notch|Helix, posterior pit|Pits in posterior aspect of ear helices	http://purl.obolibrary.org/obo/HP_0008523	Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.
HP:0008527	Congenital sensorineural hearing impairment	biolink:PhenotypicFeature	hp	SNOMEDCT_US:700453005|UMLS:C1865866		Bilateral congenital sensorineural deafness|Congenital neurosensory deafness|Congenital perceptive deafness|Congenital sensorineural deafness|Congenital sensorineural hearing loss|Hearing loss, congenital sensorineural	http://purl.obolibrary.org/obo/HP_0008527	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:27394002|UMLS:C0222050|UMLS:C4024657		Ear hair|Long hairs growing from helix of ear	http://purl.obolibrary.org/obo/HP_0008528	
HP:0008529	Absence of acoustic reflex	biolink:PhenotypicFeature	hp	UMLS:C1832834		Absence of acoustic middle ear muscle reflexes|Absent middle ear reflexes	http://purl.obolibrary.org/obo/HP_0008529	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	biolink:PhenotypicFeature	hp	UMLS:C1865302		Cleft at the superior portion of the ear	http://purl.obolibrary.org/obo/HP_0008537	
HP:0008541	Superiorly displaced ears	biolink:PhenotypicFeature	hp	UMLS:C1850190		High set ears	http://purl.obolibrary.org/obo/HP_0008541	
HP:0008542	Low-frequency hearing loss	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42538001|UMLS:C0271514		Low-frequency hearing loss	http://purl.obolibrary.org/obo/HP_0008542	A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).
HP:0008544	Abnormally folded helix	biolink:PhenotypicFeature	hp	UMLS:C1970777			http://purl.obolibrary.org/obo/HP_0008544	
HP:0008551	Microtia	biolink:PhenotypicFeature	hp	MSH:D065817|SNOMEDCT_US:35045004|UMLS:C0152423	hposlim_core	Small ears|Underdeveloped ears|Bilateral microtia|Hypoplasia of the external ear|Hypoplastic ears|Hypoplastic pinna|Small pinnae	http://purl.obolibrary.org/obo/HP_0008551	Underdevelopment of the external ear.
HP:0008554	Cochlear malformation	biolink:PhenotypicFeature	hp	UMLS:C1862050			http://purl.obolibrary.org/obo/HP_0008554	The presence of a malformed cochlea.
HP:0008555	Absent vestibular function	biolink:PhenotypicFeature	hp	UMLS:C4024656			http://purl.obolibrary.org/obo/HP_0008555	Complete lack of functioning of the vestibular apparatus.
HP:0008559	Hypoplastic superior helix	biolink:PhenotypicFeature	hp	UMLS:C1865305		Underdeveloped superior helices	http://purl.obolibrary.org/obo/HP_0008559	
HP:0008568	Vestibular areflexia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22443004|UMLS:C0235927|UMLS:C4015052		Vestibular ataxia	http://purl.obolibrary.org/obo/HP_0008568	Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.
HP:0008569	Microtia, second degree	biolink:PhenotypicFeature	hp	UMLS:C4020694|UMLS:C4020792|UMLS:C4020793|UMLS:C4020794|UMLS:C4020795|UMLS:C4020796|UMLS:C4020797		Cockleshell ear|Mini ear|Shell ear|Snail ear|Constricted helix type IV|Ear, grade II dysplasia|Severe cupped ear, type III	http://purl.obolibrary.org/obo/HP_0008569	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	biolink:PhenotypicFeature	hp	UMLS:C1846460		External ear malformation	http://purl.obolibrary.org/obo/HP_0008572	A malformation of the auricle of the ear.
HP:0008573	Low-frequency sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C3810445		Low-frequency sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0008573	A form of sensorineural hearing impairment that affects primarily the lower frequencies.
HP:0008577	Underfolded helix	biolink:PhenotypicFeature	hp	UMLS:C1849735		Poorly folded helices	http://purl.obolibrary.org/obo/HP_0008577	Underdevelopment of the helix that either affects the entire helix, or is localized.
HP:0008583	Underfolded superior helices	biolink:PhenotypicFeature	hp	UMLS:C4024655			http://purl.obolibrary.org/obo/HP_0008583	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	biolink:PhenotypicFeature	hp	UMLS:C2676974		Hypoplastic cochlea|Underdeveloped cochlea	http://purl.obolibrary.org/obo/HP_0008586	Developmental hypoplasia of the cochlea.
HP:0008587	Mild neurosensory hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021538		Mild neurosensory hearing loss	http://purl.obolibrary.org/obo/HP_0008587	The presence of a mild form of sensorineural hearing impairment.
HP:0008588	Slit-like opening of the exterior auditory meatus	biolink:PhenotypicFeature	hp	UMLS:C1846459			http://purl.obolibrary.org/obo/HP_0008588	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	biolink:PhenotypicFeature	hp	UMLS:C1842681		Underdeveloped helices	http://purl.obolibrary.org/obo/HP_0008589	Underdevelopment of the helix, i.e., of the outer rim of the pinna.
HP:0008591	Congenital conductive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021537		Congenital conductive deafness|Congenital conductive hearing loss	http://purl.obolibrary.org/obo/HP_0008591	A type of conductive deafness with congenital onset.
HP:0008593	Prominent antitragus	biolink:PhenotypicFeature	hp	UMLS:C1968811		Enlarged antitragus|Hyperplastic antitragus|Hypertrophic antitragus	http://purl.obolibrary.org/obo/HP_0008593	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	biolink:PhenotypicFeature	hp	UMLS:C4024654			http://purl.obolibrary.org/obo/HP_0008596	A form of sensorineural hearing impairment with onset after the acquisition of speech.
HP:0008598	Mild conductive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021536		Conductive hearing loss, mild	http://purl.obolibrary.org/obo/HP_0008598	A mild form of conductive hearing impairment.
HP:0008605	Unilateral external ear deformity	biolink:PhenotypicFeature	hp	UMLS:C1834043		Deformed external ear on one side	http://purl.obolibrary.org/obo/HP_0008605	
HP:0008606	Supraauricular pit	biolink:PhenotypicFeature	hp	UMLS:C1862059		Pit above the ear|Supraauricular fistula|Supraauricular sinus|Supraauricular sinuses	http://purl.obolibrary.org/obo/HP_0008606	Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.
HP:0008607	Progressive conductive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C1861325		Progressive conductive deafness	http://purl.obolibrary.org/obo/HP_0008607	A progressive type of conductive deafness.
HP:0008608	Hypertrophic auricular cartilage	biolink:PhenotypicFeature	hp	UMLS:C1857263			http://purl.obolibrary.org/obo/HP_0008608	
HP:0008609	Morphological abnormality of the middle ear	biolink:PhenotypicFeature	hp	UMLS:C1857456		Middle ear malformation|Morphological abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0008609	An abnormality of the morphology or structure of the middle ear.
HP:0008610	Infantile sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021535		Infantile sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0008610	A form of sensorineural hearing impairment with infantile onset.
HP:0008615	Adult onset sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021534		Late sensorineural hearing loss|Sensorineural deafness, late-onset	http://purl.obolibrary.org/obo/HP_0008615	The presence of sensorineural deafness with late onset.
HP:0008619	Bilateral sensorineural hearing impairment	biolink:PhenotypicFeature	hp	SNOMEDCT_US:194424005|UMLS:C0452138		Bilateral nerve deafness|Bilateral sensorineural deafness|Bilateral sensorineural hearing loss|Hearing loss, sensorineural, bilateral	http://purl.obolibrary.org/obo/HP_0008619	A bilateral form of sensorineural hearing impairment.
HP:0008625	Severe sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021533		Severe sensorineural deafness|Severe sensorineural hearing loss	http://purl.obolibrary.org/obo/HP_0008625	A severe form of sensorineural hearing impairment.
HP:0008628	Abnormality of the stapes	biolink:PhenotypicFeature	hp	UMLS:C4021532		Stapedial abnormalities	http://purl.obolibrary.org/obo/HP_0008628	An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.
HP:0008629	Pulsatile tinnitus	biolink:PhenotypicFeature	hp	MSH:D014012|SNOMEDCT_US:232322006|UMLS:C0751559			http://purl.obolibrary.org/obo/HP_0008629	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. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus.
HP:0008631	Ureteral dysgenesis	biolink:PhenotypicFeature	hp	UMLS:C4024653			http://purl.obolibrary.org/obo/HP_0008631	A developmental anomaly of the ureter.
HP:0008633	Agonadism	biolink:PhenotypicFeature	hp	UMLS:C4024652		Absent gonadal tissue|Gonadal agenesis	http://purl.obolibrary.org/obo/HP_0008633	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	biolink:PhenotypicFeature	hp	UMLS:C4021531		Hypertrophic urinary bladder	http://purl.obolibrary.org/obo/HP_0008635	Abnormal enlargement of the urinary bladder.
HP:0008636	Lobular glomerulopathy	biolink:PhenotypicFeature	hp	UMLS:C4024651			http://purl.obolibrary.org/obo/HP_0008636	
HP:0008639	Gonadal hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C0239761		Underdeveloped gonad	http://purl.obolibrary.org/obo/HP_0008639	
HP:0008640	Congenital macroorchidism	biolink:PhenotypicFeature	hp	UMLS:C4024650			http://purl.obolibrary.org/obo/HP_0008640	
HP:0008643	Nephroblastomatosis	biolink:PhenotypicFeature	hp	UMLS:C2675558			http://purl.obolibrary.org/obo/HP_0008643	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	biolink:PhenotypicFeature	hp	UMLS:C4024649			http://purl.obolibrary.org/obo/HP_0008647	
HP:0008648	Anteriorly displaced urethral meatus	biolink:PhenotypicFeature	hp	UMLS:C4024648			http://purl.obolibrary.org/obo/HP_0008648	
HP:0008651	Uric acid urolithiasis independent of gout	biolink:PhenotypicFeature	hp	UMLS:C4024647			http://purl.obolibrary.org/obo/HP_0008651	
HP:0008652	Autonomic erectile dysfunction	biolink:PhenotypicFeature	hp	UMLS:C1868524		Impotence due to autonomic dysfunction	http://purl.obolibrary.org/obo/HP_0008652	Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.
HP:0008653	Crescentic glomerulonephritis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236398000|UMLS:C0403416			http://purl.obolibrary.org/obo/HP_0008653	A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.
HP:0008655	Aplasia/Hypoplasia of the fallopian tube	biolink:PhenotypicFeature	hp	UMLS:C4020791|UMLS:C4024646		Absent/small fallopian tube|Absent/underdeveloped fallopian tube|Absent or rudimentary fallopian tubes	http://purl.obolibrary.org/obo/HP_0008655	Aplasia or developmental hypoplasia of the fallopian tube.
HP:0008656	Incomplete male pseudohermaphroditism	biolink:PhenotypicFeature	hp	UMLS:C4024645			http://purl.obolibrary.org/obo/HP_0008656	
HP:0008659	Multiple small medullary renal cysts	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204958008|UMLS:C0687120|UMLS:C4020790|UMLS:C4024644		Medullary cystic disease|Medullary sponge kidney disease	http://purl.obolibrary.org/obo/HP_0008659	The presence of many cysts in the medulla of the kidney.
HP:0008660	Renotubular dysgenesis	biolink:PhenotypicFeature	hp	MSH:C537048|SNOMEDCT_US:702397002|UMLS:C0266313		Renal tubular dysgenesis	http://purl.obolibrary.org/obo/HP_0008660	A developmental defect characterized by absence or poor development of proximal renal tubules.
HP:0008661	Urethral stenosis	biolink:PhenotypicFeature	hp	MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974		Narrowing of the urethra	http://purl.obolibrary.org/obo/HP_0008661	Abnormal narrowing of the urethra.
HP:0008663	Renal sarcoma	biolink:PhenotypicFeature	hp	NCIT:C3158|SNOMEDCT_US:254918001|UMLS:C0346251			http://purl.obolibrary.org/obo/HP_0008663	A sarcoma of the kidney.
HP:0008664	Urethral sphincter sclerosis	biolink:PhenotypicFeature	hp	UMLS:C4024643			http://purl.obolibrary.org/obo/HP_0008664	
HP:0008665	Clitoral hypertrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:80212005|UMLS:C0156394		Enlarged clitoris|Clitoral enlargement|Clitoromegaly|Hypertrophic clitoris|Prominent clitoris	http://purl.obolibrary.org/obo/HP_0008665	Hypertrophy of the clitoris.
HP:0008666	Impaired histidine renal tubular absorption	biolink:PhenotypicFeature	hp	UMLS:C4024642			http://purl.obolibrary.org/obo/HP_0008666	
HP:0008668	Gonadal dysgenesis, male	biolink:PhenotypicFeature	hp	MSH:D006061|UMLS:C0018054		46,xy gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0008668	Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.
HP:0008669	Abnormal spermatogenesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4529005|UMLS:C0520933|UMLS:C4020789		Abnormal sperm development|Impaired spermatogenesis	http://purl.obolibrary.org/obo/HP_0008669	Incomplete maturation or aberrant formation of the male gametes.
HP:0008670	Partial vaginal septum	biolink:PhenotypicFeature	hp	UMLS:C0750088			http://purl.obolibrary.org/obo/HP_0008670	
HP:0008672	Calcium oxalate nephrolithiasis	biolink:PhenotypicFeature	hp	MSH:C563477|SNOMEDCT_US:444717006|UMLS:C1833683|UMLS:C4280806		Ca oxalate kidney stone|Ca oxalate nephrolithiasis|Ca oxalate urolithiasis|Ca2+ oxalate kidney stone|Ca2+ oxalate nephrolithiasis|Ca2+ oxalate urolithiasis|Calcium oxalate kidney stones|Oxalate nephrolithiasis|Calcium oxalate urolithiasis	http://purl.obolibrary.org/obo/HP_0008672	The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.
HP:0008675	Enlarged polycystic ovaries	biolink:PhenotypicFeature	hp	UMLS:C4024641		Enlarged ovaries with cysts	http://purl.obolibrary.org/obo/HP_0008675	
HP:0008676	Congenital megaureter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:718485003|SNOMEDCT_US:95576001|UMLS:C0266324		Congenital megaloureter	http://purl.obolibrary.org/obo/HP_0008676	A developmental disturbance with extreme ureteral dilatation.
HP:0008677	Congenital nephrotic syndrome	biolink:PhenotypicFeature	hp	MSH:C535761|SNOMEDCT_US:48796009|UMLS:C3501848		Congenital nephrosis	http://purl.obolibrary.org/obo/HP_0008677	Nephrotic syndrome with onset within the first three months of life.
HP:0008678	Renal hypoplasia/aplasia	biolink:PhenotypicFeature	hp	UMLS:C1857453		Absent/small kidney|Absent/underdeveloped kidney|Renal agenesis/hypoplasia|Renal aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0008678	Absence or underdevelopment of the kidney.
HP:0008682	Renal tubular epithelial necrosis	biolink:PhenotypicFeature	hp	MSH:D007683|SNOMEDCT_US:35455006|UMLS:C0022672		Acute tubular necrosis|Renal tubular necrosis	http://purl.obolibrary.org/obo/HP_0008682	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	biolink:PhenotypicFeature	hp	UMLS:C1849358		Hypertrophic labia minora|Labia minora hypertrophy	http://purl.obolibrary.org/obo/HP_0008683	Increase in size of the folds of skin between the outer labia.
HP:0008684	Aplasia/hypoplasia of the uterus	biolink:PhenotypicFeature	hp	UMLS:C4024640		Absent/small uterus|Absent/underdeveloped uterus	http://purl.obolibrary.org/obo/HP_0008684	Absence or developmental hypoplasia of the uterus.
HP:0008687	Hypoplasia of the prostate	biolink:PhenotypicFeature	hp	UMLS:C1844923		Underdeveloped prostate|Hypoplastic prostate	http://purl.obolibrary.org/obo/HP_0008687	
HP:0008689	Bilateral cryptorchidism	biolink:PhenotypicFeature	hp	MSH:D003456|SNOMEDCT_US:268228006|UMLS:C0431663		Cryptorchidism, bilateral	http://purl.obolibrary.org/obo/HP_0008689	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	biolink:PhenotypicFeature	hp	UMLS:C4024639			http://purl.obolibrary.org/obo/HP_0008691	Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.
HP:0008694	obsolete Hypertrophic labia minora	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008694	
HP:0008695	Transient nephrotic syndrome	biolink:PhenotypicFeature	hp	UMLS:C4024638		Transient nephrosis	http://purl.obolibrary.org/obo/HP_0008695	
HP:0008696	Renal hamartoma	biolink:PhenotypicFeature	hp	UMLS:C1840396			http://purl.obolibrary.org/obo/HP_0008696	A disordered proliferation of mature tissues that are native to the kidneys.
HP:0008697	Hypoplasia of the fallopian tube	biolink:PhenotypicFeature	hp	UMLS:C1968706		Underdeveloped fallopian tube|Rudimentary fallopian tubes	http://purl.obolibrary.org/obo/HP_0008697	Developmental hypoplasia of the fallopian tube.
HP:0008702	Absent internal genitalia	biolink:PhenotypicFeature	hp	UMLS:C4024637			http://purl.obolibrary.org/obo/HP_0008702	
HP:0008703	Gonadal calcification	biolink:PhenotypicFeature	hp	UMLS:C4024636			http://purl.obolibrary.org/obo/HP_0008703	Deposition of calcium salts in gonadal tissue.
HP:0008705	Ureteral triplication	biolink:PhenotypicFeature	hp	UMLS:C4024635			http://purl.obolibrary.org/obo/HP_0008705	
HP:0008706	Distal urethral duplication	biolink:PhenotypicFeature	hp	UMLS:C4024634			http://purl.obolibrary.org/obo/HP_0008706	
HP:0008707	Absent scrotum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249233008|UMLS:C0426320		Absent scrotum	http://purl.obolibrary.org/obo/HP_0008707	Congenital absence of the scrotum.
HP:0008708	Partial development of the penile shaft	biolink:PhenotypicFeature	hp	UMLS:C1837379			http://purl.obolibrary.org/obo/HP_0008708	
HP:0008711	Benign prostatic hyperplasia	biolink:PhenotypicFeature	hp	MSH:D011470|SNOMEDCT_US:266569009|UMLS:C0005001|UMLS:C1704272		Benign prostatic hypertrophy	http://purl.obolibrary.org/obo/HP_0008711	The presence of non-malignant hyperplasia of the prostate.
HP:0008714	Ureterovesical stenosis	biolink:PhenotypicFeature	hp	UMLS:C4024633			http://purl.obolibrary.org/obo/HP_0008714	
HP:0008715	Testicular dysgenesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253847002|UMLS:C0302885			http://purl.obolibrary.org/obo/HP_0008715	
HP:0008716	Urethrovaginal fistula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:50477003|UMLS:C0269133		Urethrovaginal fistulae	http://purl.obolibrary.org/obo/HP_0008716	The presence of a fistula between the vagina and the urethra.
HP:0008717	Unilateral renal atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:424998002|UMLS:C1827184		Kidney degeneration on one side|Unilateral kidney wasting	http://purl.obolibrary.org/obo/HP_0008717	A unilateral form of atrophy of the kidney.
HP:0008718	Unilateral renal dysplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204951002|UMLS:C0431697			http://purl.obolibrary.org/obo/HP_0008718	A unilateral form of developmental dysplasia of the kidney.
HP:0008720	Primary testicular failure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:370997001|SNOMEDCT_US:48723006|UMLS:C1384582			http://purl.obolibrary.org/obo/HP_0008720	
HP:0008722	Urethral diverticulum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90531003|UMLS:C0152443			http://purl.obolibrary.org/obo/HP_0008722	The presence of a diverticulum (sac or pouch) in the wall of the urethra.
HP:0008723	Gonadal dysgenesis with female appearance, male	biolink:PhenotypicFeature	hp	UMLS:C4020788|UMLS:C4024632		Xy female gonadal dysgenesis	http://purl.obolibrary.org/obo/HP_0008723	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93279005|UMLS:C0685840|UMLS:C1835452		Underdeveloped ovary|Hypoplastic ovary	http://purl.obolibrary.org/obo/HP_0008724	Developmental hypoplasia of the ovary.
HP:0008726	Hypoplasia of the vagina	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253836009|UMLS:C0345309|UMLS:C1442988		Underdeveloped vagina|Rudimentary vagina|Hypoplastic vagina	http://purl.obolibrary.org/obo/HP_0008726	Developmental hypoplasia of the vagina.
HP:0008729	Absence of labia majora	biolink:PhenotypicFeature	hp	UMLS:C1849575		Absent vaginal lips	http://purl.obolibrary.org/obo/HP_0008729	
HP:0008730	Female external genitalia in individual with 46,XY karyotype	biolink:PhenotypicFeature	hp	UMLS:C1848178		Males with female external genitalia	http://purl.obolibrary.org/obo/HP_0008730	The presence of female external genitalia in a person with a male karyotype.
HP:0008732	Renal hypophosphatemia	biolink:PhenotypicFeature	hp	UMLS:C4024631			http://purl.obolibrary.org/obo/HP_0008732	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	biolink:PhenotypicFeature	hp	UMLS:C1837380			http://purl.obolibrary.org/obo/HP_0008733	
HP:0008734	Decreased testicular size	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276411001|UMLS:C0241355		Decreased testicular size|Small testes|Small testis|Hypoplastic testes|Testicular hypoplasia	http://purl.obolibrary.org/obo/HP_0008734	Reduced volume of the testicle (the male gonad).
HP:0008736	Hypoplasia of penis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34911001|UMLS:C0266435		Underdeveloped penis	http://purl.obolibrary.org/obo/HP_0008736	
HP:0008738	Partially duplicated kidney	biolink:PhenotypicFeature	hp	UMLS:C4024630		Partially duplicated kidney	http://purl.obolibrary.org/obo/HP_0008738	The presence of a partially duplicated kidney.
HP:0008739	Labial pseudohypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1835380			http://purl.obolibrary.org/obo/HP_0008739	
HP:0008740	Longitudinal vaginal septum	biolink:PhenotypicFeature	hp	UMLS:C1841680		Vertical vaginal septum	http://purl.obolibrary.org/obo/HP_0008740	The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.
HP:0008742	Prominent prostate median bar	biolink:PhenotypicFeature	hp	UMLS:C4024629			http://purl.obolibrary.org/obo/HP_0008742	
HP:0008743	Coronal hypospadias	biolink:PhenotypicFeature	hp	SNOMEDCT_US:429641000124109|UMLS:C1394030|UMLS:C4020787		Subcoronal hypospadias	http://purl.obolibrary.org/obo/HP_0008743	A mild form of hypospadias in which the urethra opens just under the corona glandis.
HP:0008744	Abnormal aryepiglottic fold morphology	biolink:PhenotypicFeature	hp	UMLS:C1849357		Abnormal aryepiglottic folds|Abnormality of the aryepiglottic fold	http://purl.obolibrary.org/obo/HP_0008744	An abnormality of the aryepiglottic fold.
HP:0008747	Cartilaginous ossification of larynx	biolink:PhenotypicFeature	hp	UMLS:C1855622			http://purl.obolibrary.org/obo/HP_0008747	Ossification affecting the set of cartilages of larynx.
HP:0008749	Laryngeal hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253736003|UMLS:C0431527		Hypoplastic larynx	http://purl.obolibrary.org/obo/HP_0008749	Underdevelopment of the larynx.
HP:0008750	Laryngeal atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:64981002|UMLS:C0265756			http://purl.obolibrary.org/obo/HP_0008750	Congenital absence of the lumen of the larynx.
HP:0008751	Laryngeal cleft	biolink:PhenotypicFeature	hp	MSH:C537875|SNOMEDCT_US:232461002|UMLS:C1840311		Laryngotracheal cleft|Laryngotracheoesophageal cleft i	http://purl.obolibrary.org/obo/HP_0008751	Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.
HP:0008752	Laryngeal cartilage malformation	biolink:PhenotypicFeature	hp	UMLS:C4021530		Vocal impairment, severe, due to laryngeal cartilage abnormalities	http://purl.obolibrary.org/obo/HP_0008752	A malformation of the laryngeal cartilage.
HP:0008753	Aplasia of the epiglottis	biolink:PhenotypicFeature	hp	UMLS:C4024628		Absent epiglottis	http://purl.obolibrary.org/obo/HP_0008753	Absence of the epiglottis.
HP:0008754	Laryngeal calcification	biolink:PhenotypicFeature	hp	UMLS:C1859158		Laryngeal calcifications	http://purl.obolibrary.org/obo/HP_0008754	Calcification (abnormal deposits of calcium) in the laryngeal tissues.
HP:0008755	Laryngotracheomalacia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:308232009|UMLS:C0585984			http://purl.obolibrary.org/obo/HP_0008755	
HP:0008756	Bowing of the vocal cords	biolink:PhenotypicFeature	hp	SNOMEDCT_US:232448002|UMLS:C0396064			http://purl.obolibrary.org/obo/HP_0008756	Bowing (abnormal curvature) of the vocal folds.
HP:0008757	Unilateral vocal cord paralysis	biolink:PhenotypicFeature	hp	MSH:D014826|UMLS:C0751575		Unilateral paralysis of the vocal cord	http://purl.obolibrary.org/obo/HP_0008757	A loss of the ability to move the vocal fold on one side.
HP:0008760	Violent behavior	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248004009|UMLS:C0424323		Violent behavior|Violent behaviour	http://purl.obolibrary.org/obo/HP_0008760	
HP:0008762	Repetitive compulsive behavior	biolink:PhenotypicFeature	hp	UMLS:C1969697		Repetitive compulsive behavior|Repetitive compulsive behaviour	http://purl.obolibrary.org/obo/HP_0008762	
HP:0008763	No social interaction	biolink:PhenotypicFeature	hp	UMLS:C1849683		No social interaction	http://purl.obolibrary.org/obo/HP_0008763	
HP:0008765	Auditory hallucinations	biolink:PhenotypicFeature	hp	MSH:D006212|SNOMEDCT_US:45150006|UMLS:C0233762		Hallucinations of sound|Hearing sounds	http://purl.obolibrary.org/obo/HP_0008765	
HP:0008767	Self-mutilation of tongue and lips due to involuntary movements	biolink:PhenotypicFeature	hp	UMLS:C1860219		Self-mutilation of tongue and lips due to involuntary movements	http://purl.obolibrary.org/obo/HP_0008767	
HP:0008768	Inappropriate sexual behavior	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248099006|UMLS:C0474420		Inappropriate sexual behavior|Inappropriate sexual behaviour	http://purl.obolibrary.org/obo/HP_0008768	
HP:0008770	Obsessive-compulsive trait	biolink:PhenotypicFeature	hp	UMLS:C1834433		Obsessive-compulsive trait|Obsessive-compulsive traits	http://purl.obolibrary.org/obo/HP_0008770	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	biolink:PhenotypicFeature	hp	UMLS:C4024627		Absent/small ear|Absent/underdeveloped ear	http://purl.obolibrary.org/obo/HP_0008771	The presence of aplasia or developmental hypoplasia of the ear.
HP:0008772	Aplasia/Hypoplasia of the external ear	biolink:PhenotypicFeature	hp	UMLS:C4024626		Absent/small external ear|Absent/underdeveloped external ear	http://purl.obolibrary.org/obo/HP_0008772	The presence of aplasia or developmental hypoplasia of all or part of the external ear.
HP:0008773	Aplasia/Hypoplasia of the middle ear	biolink:PhenotypicFeature	hp	UMLS:C4021529		Absent/small middle ear|Absent/underdeveloped middle ear|Hypoplastic/aplastic middle ear structures|Middle ear hypoplasia/aplasia	http://purl.obolibrary.org/obo/HP_0008773	Aplasia or developmental hypoplasia of all or part of the middle ear.
HP:0008774	Aplasia/Hypoplasia of the inner ear	biolink:PhenotypicFeature	hp	UMLS:C4024625		Absent/small inner ear|Absent/underdeveloped inner ear	http://purl.obolibrary.org/obo/HP_0008774	Aplasia or developmental hypoplasia of the inner ear.
HP:0008775	Abnormal prostate morphology	biolink:PhenotypicFeature	hp	UMLS:C0747987		Abnormality of the prostate	http://purl.obolibrary.org/obo/HP_0008775	An abnormality of the prostate.
HP:0008776	Abnormal renal artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4024624		Abnormal kidney artery|Abnormality of the renal artery	http://purl.obolibrary.org/obo/HP_0008776	Any structural abnormality of the renal artery.
HP:0008777	Abnormal vocal cord morphology	biolink:PhenotypicFeature	hp	UMLS:C0262665		Abnormality of the vocal cords	http://purl.obolibrary.org/obo/HP_0008777	An abnormality of the vocal cord.
HP:0008780	Congenital bilateral hip dislocation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10155006|UMLS:C0158713			http://purl.obolibrary.org/obo/HP_0008780	
HP:0008783	Wide proximal femoral metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4024623		Wide metaphysis of innermost thighbone	http://purl.obolibrary.org/obo/HP_0008783	Increased width of the proximal part of the shaft (metaphysis) of the femur.
HP:0008784	Wide capital femoral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4024622		Wide end part of innermost thighbone	http://purl.obolibrary.org/obo/HP_0008784	Abnormally wide morphology of the proximal epiphysis of the femur.
HP:0008785	Delayed ossification of pubic rami	biolink:PhenotypicFeature	hp	UMLS:C1865363			http://purl.obolibrary.org/obo/HP_0008785	Delayed maturation and calcification of the rami (branches) of the pubic bone.
HP:0008786	Iliac crest serration	biolink:PhenotypicFeature	hp	UMLS:C1857186		Irregular lacy iliac crest|Lacy appearance of iliac crest	http://purl.obolibrary.org/obo/HP_0008786	Irregularities of the iliac crest that produce the appearance of a lace border around it.
HP:0008788	Delayed pubic bone ossification	biolink:PhenotypicFeature	hp	UMLS:C1861528|UMLS:C1866710|UMLS:C4280411	hposlim_core	Delayed maturation fo pubic bone|Delayed mineralization of pubic bone|Absent pubic ossification in infancy	http://purl.obolibrary.org/obo/HP_0008788	Delayed maturation and calcification of the pubic bone.
HP:0008789	Cone-shaped capital femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1846157		Cone-shaped end part of innermost thighbone	http://purl.obolibrary.org/obo/HP_0008789	A cone-shaped deformity of the proximal epiphysis of the femur.
HP:0008794	Dysplastic iliac wings	biolink:PhenotypicFeature	hp	UMLS:C1837487			http://purl.obolibrary.org/obo/HP_0008794	
HP:0008796	Externally rotated hips	biolink:PhenotypicFeature	hp	UMLS:C1846339		Externally rotated hips	http://purl.obolibrary.org/obo/HP_0008796	
HP:0008797	Early ossification of capital femoral epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4024621			http://purl.obolibrary.org/obo/HP_0008797	Developmental acceleration of ossification of the proximal epiphysis of the femur.
HP:0008798	Widened greater sciatic notch	biolink:PhenotypicFeature	hp	UMLS:C4024620		Widened sacrosciatic notch|Widening of the sacrosciatic notch	http://purl.obolibrary.org/obo/HP_0008798	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	biolink:PhenotypicFeature	hp	UMLS:C1851542		Limited hip movement	http://purl.obolibrary.org/obo/HP_0008800	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	biolink:PhenotypicFeature	hp	UMLS:C1840062		Lesser trochanter hypoplasia	http://purl.obolibrary.org/obo/HP_0008801	Underdevelopment of the lesser trochanter.
HP:0008802	Hypoplasia of the femoral head	biolink:PhenotypicFeature	hp	UMLS:C1856920		Small head of thigh bone|Hypoplastic femoral head|Small femoral heads	http://purl.obolibrary.org/obo/HP_0008802	Underdevelopment of the femoral head.
HP:0008803	obsolete Narrow sacroiliac notch	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0008803	
HP:0008804	Broad femoral head	biolink:PhenotypicFeature	hp	UMLS:C4024619		Wide head of thigh bone	http://purl.obolibrary.org/obo/HP_0008804	Increased width of the femoral head.
HP:0008807	Acetabular dysplasia	biolink:PhenotypicFeature	hp	MSH:D006617|UMLS:C1328407		Dysplastic acetabulae	http://purl.obolibrary.org/obo/HP_0008807	The presence of developmental dysplasia of the acetabular part of hip bone.
HP:0008808	High iliac wings	biolink:PhenotypicFeature	hp	UMLS:C1969680		Narrow, high iliac wings	http://purl.obolibrary.org/obo/HP_0008808	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	biolink:PhenotypicFeature	hp	UMLS:C1860601		Flat head of thigh bone|Flattened femoral heads	http://purl.obolibrary.org/obo/HP_0008812	An abnormally flattened femoral head.
HP:0008817	Aplastic pubic bones	biolink:PhenotypicFeature	hp	UMLS:C1848660		Absent pubic bones	http://purl.obolibrary.org/obo/HP_0008817	
HP:0008818	Large iliac wings	biolink:PhenotypicFeature	hp	UMLS:C4024618			http://purl.obolibrary.org/obo/HP_0008818	Increased size of the ilium ala.
HP:0008819	Narrow femoral neck	biolink:PhenotypicFeature	hp	UMLS:C1863739		Narrow neck of thigh bone|Narrow femoral necks	http://purl.obolibrary.org/obo/HP_0008819	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	biolink:PhenotypicFeature	hp	UMLS:C1968686		Absent ossification of femoral capital epiphyses	http://purl.obolibrary.org/obo/HP_0008820	Lack of ossification of the proximal epiphysis of the femur.
HP:0008821	Hypoplastic inferior ilia	biolink:PhenotypicFeature	hp	UMLS:C1837078			http://purl.obolibrary.org/obo/HP_0008821	
HP:0008822	Hypoplastic ischiopubic rami	biolink:PhenotypicFeature	hp	UMLS:C4024617			http://purl.obolibrary.org/obo/HP_0008822	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	biolink:PhenotypicFeature	hp	UMLS:C1853573			http://purl.obolibrary.org/obo/HP_0008823	
HP:0008824	Hypoplastic iliac body	biolink:PhenotypicFeature	hp	UMLS:C1849034		Hypoplastic iliac bodies|Small iliac bodies	http://purl.obolibrary.org/obo/HP_0008824	Underdevelopment of the body of ilium.
HP:0008826	Dislocation of the femoral head	biolink:PhenotypicFeature	hp	UMLS:C1859446		Dislocated head of thigh bone|Dislocated femoral heads	http://purl.obolibrary.org/obo/HP_0008826	Joint dislocation of the femoral head.
HP:0008828	Delayed proximal femoral epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C1855222		Delayed ossification of the proximal femoral epiphysis|Delayed ossification proximal femoral epiphyses	http://purl.obolibrary.org/obo/HP_0008828	Developmental delay of ossification of the proximal epiphysis of the femur.
HP:0008829	Delayed femoral head ossification	biolink:PhenotypicFeature	hp	UMLS:C1846446|UMLS:C4280410		Delayed maturation of the head of the thigh bone	http://purl.obolibrary.org/obo/HP_0008829	Delayed ossification of the femoral head.
HP:0008830	Hypoplastic pubic rami	biolink:PhenotypicFeature	hp	UMLS:C1969176			http://purl.obolibrary.org/obo/HP_0008830	
HP:0008833	Irregular acetabular roof	biolink:PhenotypicFeature	hp	UMLS:C1834975			http://purl.obolibrary.org/obo/HP_0008833	
HP:0008835	Multicentric femoral head ossification	biolink:PhenotypicFeature	hp	UMLS:C1846447			http://purl.obolibrary.org/obo/HP_0008835	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	biolink:PhenotypicFeature	hp	UMLS:C1857243		Speckled calcifications in end part of innermost long bone of upper arm	http://purl.obolibrary.org/obo/HP_0008838	
HP:0008839	Hypoplastic pelvis	biolink:PhenotypicFeature	hp	UMLS:C3536734	hposlim_core	Hypoplastic pelvic bones|Small pelvis	http://purl.obolibrary.org/obo/HP_0008839	Underdevelopment of the bony pelvis.
HP:0008843	Hip osteoarthritis	biolink:PhenotypicFeature	hp	MSH:D015207|SNOMEDCT_US:239872002|UMLS:C0029410		Osteoarthritis of hip	http://purl.obolibrary.org/obo/HP_0008843	
HP:0008845	Mesomelic short stature	biolink:PhenotypicFeature	hp	UMLS:C1855274		Mesomelic dwarfism|Dwarfism, short limb mesomelic|Short stature, disproportionate mesomelic|Short stature, mesomelic	http://purl.obolibrary.org/obo/HP_0008845	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	biolink:PhenotypicFeature	hp	UMLS:C1855843		Severe prenatal growth deficiency|Intrauterine growth retardation, severe	http://purl.obolibrary.org/obo/HP_0008846	Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
HP:0008848	Moderately short stature	biolink:PhenotypicFeature	hp	UMLS:C1861519		Moderate short stature|Short stature, moderate	http://purl.obolibrary.org/obo/HP_0008848	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	biolink:PhenotypicFeature	hp	UMLS:C1857641		Marked growth retardation|Severe growth delay in children|Severe postnatal growth failure|Severe postnatal growth deficiency	http://purl.obolibrary.org/obo/HP_0008850	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	biolink:PhenotypicFeature	hp	UMLS:C4024616		Moderate growth delay in children	http://purl.obolibrary.org/obo/HP_0008855	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	biolink:PhenotypicFeature	hp	UMLS:C3149908		Short-trunk dwarfism identifiable at birth	http://purl.obolibrary.org/obo/HP_0008857	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	biolink:PhenotypicFeature	hp	UMLS:C1832323		Faltering weight secondary to recurrent infections|Weight faltering secondary to recurrent infections	http://purl.obolibrary.org/obo/HP_0008866	Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.
HP:0008872	Feeding difficulties in infancy	biolink:PhenotypicFeature	hp	UMLS:C2674608			http://purl.obolibrary.org/obo/HP_0008872	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	biolink:PhenotypicFeature	hp	UMLS:C1849937	hposlim_core	Short limb dwarfism, disproportionate|Short-limbed dwarfism|Short limb dwarfism|Brachymelic dwarfism|Disproportionate short limb dwarfism|Dwarfism, short-limbed|Micromelic dwarfism|Short stature, disproportionate short limb|Short stature, disproportionate short-limb|Short-limb dwarfism	http://purl.obolibrary.org/obo/HP_0008873	A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
HP:0008883	Mild intrauterine growth retardation	biolink:PhenotypicFeature	hp	UMLS:C1840006		Mild prenatal growth deficiency	http://purl.obolibrary.org/obo/HP_0008883	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	biolink:PhenotypicFeature	hp	UMLS:C4024615		Loss of fat tissue	http://purl.obolibrary.org/obo/HP_0008887	A loss of adipose tissue.
HP:0008890	Severe short-limb dwarfism	biolink:PhenotypicFeature	hp	UMLS:C1860105			http://purl.obolibrary.org/obo/HP_0008890	
HP:0008897	Postnatal growth retardation	biolink:PhenotypicFeature	hp	UMLS:C1859778		Growth delay as children|Growth retardation as children|Postnatal growth deceleration|Postnatal growth deficiency|Postnatal growth failure	http://purl.obolibrary.org/obo/HP_0008897	Slow or limited growth after birth.
HP:0008905	Rhizomelia	biolink:PhenotypicFeature	hp	UMLS:C1866730	hposlim_core	Disproportionately short upper portion of limb|Rhizomelic dwarfism|Rhizomelic limb shortening|Rhizomelic short limbs|Rhizomelic short stature|Rhizomelic shortening|Short stature, rhizomelic|Symmetrical rhizomelic limb shortening	http://purl.obolibrary.org/obo/HP_0008905	Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
HP:0008909	Lethal short-limbed short stature	biolink:PhenotypicFeature	hp	UMLS:C2674171		Lethal micromelic dwarfism|Lethal short-limbed dwarfism	http://purl.obolibrary.org/obo/HP_0008909	
HP:0008915	Childhood-onset truncal obesity	biolink:PhenotypicFeature	hp	UMLS:C1859846		Truncal obesity apparent in childhood	http://purl.obolibrary.org/obo/HP_0008915	Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.
HP:0008921	Neonatal short-limb short stature	biolink:PhenotypicFeature	hp	UMLS:C1850171		Short limb dwarfism recognizable at birth|Short-limb dwarfism identifiable at birth|Short-limbed dwarfism identifiable at birth|Dwarfism, neonatal short-limbed|Neonatal short-limbed dwarfism|Short-limb dwarfism identifiable neonatally	http://purl.obolibrary.org/obo/HP_0008921	A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
HP:0008922	Childhood-onset short-trunk short stature	biolink:PhenotypicFeature	hp	UMLS:C3148833		Childhood-onset short-trunk short stature|Disproportionate short-trunk short stature, identifiable in childhood|Short-trunk dwarfism identifiable during childhood	http://purl.obolibrary.org/obo/HP_0008922	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	biolink:PhenotypicFeature	hp	UMLS:C4024614			http://purl.obolibrary.org/obo/HP_0008929	
HP:0008935	Generalized neonatal hypotonia	biolink:PhenotypicFeature	hp	UMLS:C1845123		Generalized low muscle tone in neonate|Generalised neonatal hypotonia|Hypotonia, neonatal, generalized	http://purl.obolibrary.org/obo/HP_0008935	Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.
HP:0008936	Muscular hypotonia of the trunk	biolink:PhenotypicFeature	hp	UMLS:C1853743		Low muscle tone in trunk|Axial hypotonia|Truncal hypotonia	http://purl.obolibrary.org/obo/HP_0008936	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
HP:0008940	Generalized lymphadenopathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274741002|UMLS:C0476486		Generalized swelling of lymph nodes|Swollen lymph nodes affecting all regions of the body|Generalised lymphadenopathy	http://purl.obolibrary.org/obo/HP_0008940	A generalized form of lymphadenopathy.
HP:0008942	Acute rhabdomyolysis	biolink:PhenotypicFeature	hp	UMLS:C3807306		Rhabdomyolysis, acute	http://purl.obolibrary.org/obo/HP_0008942	An acute form of rhabdomyolysis.
HP:0008944	Distal lower limb amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C1836451|UMLS:C1866863|UMLS:C3806644		Lower leg amyotrophy|Lower limb degeneration|Muscle atrophy, lower limb, distal|Lower limb atrophy|Lower limb muscle hypotrophy	http://purl.obolibrary.org/obo/HP_0008944	Muscular atrophy of distal leg muscles.
HP:0008945	Loss of ability to walk in early childhood	biolink:PhenotypicFeature	hp	UMLS:C1835993			http://purl.obolibrary.org/obo/HP_0008945	
HP:0008946	Pelvic girdle amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C4021528		Hip girdle amyotrophy	http://purl.obolibrary.org/obo/HP_0008946	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	biolink:PhenotypicFeature	hp	UMLS:C1860834		Decreased muscle tone in infant|Hypotonia early|Hypotonia in infancy|Hypotonia, early|Infantile hypotonia	http://purl.obolibrary.org/obo/HP_0008947	Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
HP:0008948	Proximal upper limb amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C1866013		Proximal muscle atrophy in upper limbs|Proximal upper limb muscle atrophy	http://purl.obolibrary.org/obo/HP_0008948	Muscular atrophy affecting proximally located muscles of the arms.
HP:0008952	Shoulder muscle hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1969001		Underdeveloped shoulder muscle	http://purl.obolibrary.org/obo/HP_0008952	Underdevelopment of muscles of the shoulder.
HP:0008953	Pectoralis major hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1840086		Pectoralis major muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0008953	Underdevelopment of the pectoralis major.
HP:0008954	Intrinsic hand muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1864716			http://purl.obolibrary.org/obo/HP_0008954	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	biolink:PhenotypicFeature	hp	UMLS:C4024613			http://purl.obolibrary.org/obo/HP_0008955	Progressive muscular atrophy affecting muscles in the distal portions of the extremities.
HP:0008956	Proximal lower limb amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C1836767		Wasting of thigh muscle|Amyotrophy involving the thigh|Amyotrophy of the thigh musculature|Proximal lower limb muscle atrophy|Thigh muscle atrophy	http://purl.obolibrary.org/obo/HP_0008956	Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
HP:0008959	Distal upper limb muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C3150620			http://purl.obolibrary.org/obo/HP_0008959	Reduced strength of the distal musculature of the arms.
HP:0008962	Calf muscle hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C3805450		Underdeveloped calf muscles|Hypoplastic calf muscles	http://purl.obolibrary.org/obo/HP_0008962	Underdevelopment of the muscuklature of the calf.
HP:0008963	Tibialis muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C4024612			http://purl.obolibrary.org/obo/HP_0008963	Muscle weakness affecting the tibialis anterior muscle.
HP:0008964	Nonprogressive muscular atrophy	biolink:PhenotypicFeature	hp	UMLS:C4024611			http://purl.obolibrary.org/obo/HP_0008964	Muscular atrophy that does not display a progression in severity with time.
HP:0008967	Exercise-induced muscle stiffness	biolink:PhenotypicFeature	hp	UMLS:C1855579		Exercise-induced muscle stiffness|Muscle stiffness with exercise|Muscle stiffness, exercise-induced	http://purl.obolibrary.org/obo/HP_0008967	A type of muscle stiffness that occurs following physical exertion.
HP:0008968	Muscle hypertrophy of the lower extremities	biolink:PhenotypicFeature	hp	UMLS:C1850663			http://purl.obolibrary.org/obo/HP_0008968	Muscle hypertrophy primarily affecting the legs.
HP:0008969	Leg muscle stiffness	biolink:PhenotypicFeature	hp	UMLS:C4024610			http://purl.obolibrary.org/obo/HP_0008969	
HP:0008970	Scapulohumeral muscular dystrophy	biolink:PhenotypicFeature	hp	MSH:C562932|SNOMEDCT_US:240074006|UMLS:C0410192			http://purl.obolibrary.org/obo/HP_0008970	
HP:0008972	Decreased activity of mitochondrial respiratory chain	biolink:PhenotypicFeature	hp	UMLS:C1835995|UMLS:C3276441|UMLS:C4024609		Decreased activities of mitochondrial-encoded respiratory chain complexes|Decreased activity of mitochondrial respiratory complexes	http://purl.obolibrary.org/obo/HP_0008972	Decreased activity of the mitochondrial respiratory chain.
HP:0008978	Necrotizing myopathy	biolink:PhenotypicFeature	hp	UMLS:C4024608			http://purl.obolibrary.org/obo/HP_0008978	
HP:0008981	Calf muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1843057		Increased size of calf muscles|Calf hypertrophy|Muscular hypertrophy of the calf muscles	http://purl.obolibrary.org/obo/HP_0008981	Muscle hypertrophy affecting the calf muscles.
HP:0008984	Neck muscle hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1969000|UMLS:C4280408|UMLS:C4280409		Decreased size of neck muscle|Small neck muscle|Underdevelopment of neck muscle|Deficiency of neck muscle|Hypotrophic neck muscle	http://purl.obolibrary.org/obo/HP_0008984	Underdevelopment of muscles of the neck.
HP:0008985	Increased intramuscular fat	biolink:PhenotypicFeature	hp	UMLS:C1835389		Increased IM fat|Increased intramuscular fat	http://purl.obolibrary.org/obo/HP_0008985	An abnormal increase in the amount of intramuscular fat tissue.
HP:0008986	Agenesis of the diaphragm	biolink:PhenotypicFeature	hp	SNOMEDCT_US:702613006|SNOMEDCT_US:72424001|UMLS:C0221360		Absent diaphragm|Agenesis of diaphragm	http://purl.obolibrary.org/obo/HP_0008986	Congenital lack, i.e., aplasia of the diaphragm.
HP:0008988	Pelvic girdle muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C0240679		Pelvic girdle muscle wasting	http://purl.obolibrary.org/obo/HP_0008988	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	biolink:PhenotypicFeature	hp	UMLS:C4024607			http://purl.obolibrary.org/obo/HP_0008991	Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.
HP:0008993	Increased intraabdominal fat	biolink:PhenotypicFeature	hp	UMLS:C1835390			http://purl.obolibrary.org/obo/HP_0008993	An abnormal increase in the amount of intraabdominal fat tissue.
HP:0008994	Proximal muscle weakness in lower limbs	biolink:PhenotypicFeature	hp	UMLS:C1866010		Muscle weakness, proximal, lower limbs	http://purl.obolibrary.org/obo/HP_0008994	A lack of strength of the proximal muscles of the legs.
HP:0008997	Proximal muscle weakness in upper limbs	biolink:PhenotypicFeature	hp	UMLS:C1866012			http://purl.obolibrary.org/obo/HP_0008997	A lack of strength of the proximal muscles of the arms.
HP:0008998	Pectoralis hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1846477		Small pec muscle|Underdeveloped pec muscle|Hypoplastic pectoral muscle	http://purl.obolibrary.org/obo/HP_0008998	Underdevelopment of the pectoral muscle.
HP:0009002	Loss of truncal subcutaneous adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C1835384		Loss of fat tissue in trunk|Loss of subcutaneous truncal adipose tissue|Loss of truncal adipose tissue	http://purl.obolibrary.org/obo/HP_0009002	Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.
HP:0009003	Increased subcutaneous truncal adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C1837781		Increased fat below the skin in trunk	http://purl.obolibrary.org/obo/HP_0009003	The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.
HP:0009004	Hypoplasia of the musculature	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205530002|UMLS:C0240414		Poorly developed skeletal musculature|Underdeveloped muscle|Muscle hypoplasia|Underdeveloped muscles	http://purl.obolibrary.org/obo/HP_0009004	Underdevelopment of the musculature.
HP:0009005	Weakness of the intrinsic hand muscles	biolink:PhenotypicFeature	hp	UMLS:C1834536		Intrinsic hand muscle weakness	http://purl.obolibrary.org/obo/HP_0009005	
HP:0009007	Biceps hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1862499		Underdeveloped biceps|Hypoplastic biceps	http://purl.obolibrary.org/obo/HP_0009007	Underdevelopment of the biceps muscle.
HP:0009011	Hypoplasia of serratus anterior muscle	biolink:PhenotypicFeature	hp	UMLS:C1868167			http://purl.obolibrary.org/obo/HP_0009011	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	biolink:PhenotypicFeature	hp	MSH:C535561|UMLS:C2930932			http://purl.obolibrary.org/obo/HP_0009013	
HP:0009016	Upper limb muscle hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1846478		Underdevelopment of upper limb muscles	http://purl.obolibrary.org/obo/HP_0009016	Underdevelopment of muscles of the arm.
HP:0009017	Loss of gluteal subcutaneous adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C4024606		Loss of fat tissue below the skin in gluts	http://purl.obolibrary.org/obo/HP_0009017	Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.
HP:0009019	Progressive loss of facial adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C1837510		Facial fat wasting|Progressive loss of facial fat|Atrophy of facial adipose tissue|Facial fat atrophy|Loss of subcutaneous adipose tissue from face, progressive|Progressive loss of facial subcutaneous adipose tissue|Progressive loss of subcutaneous adipose tissue from face	http://purl.obolibrary.org/obo/HP_0009019	
HP:0009020	Exercise-induced muscle fatigue	biolink:PhenotypicFeature	hp	UMLS:C1855580			http://purl.obolibrary.org/obo/HP_0009020	An abnormally increased tendency towards muscle fatigue induced by physical exercise.
HP:0009023	Abdominal wall muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C4021527		Lax abdominal musculature	http://purl.obolibrary.org/obo/HP_0009023	Decreased strength of the abdominal musculature.
HP:0009025	Increased connective tissue	biolink:PhenotypicFeature	hp	UMLS:C1866021			http://purl.obolibrary.org/obo/HP_0009025	The presence of an abnormally increased amount of connective tissue.
HP:0009026	Hypoplasia of latissimus dorsi muscle	biolink:PhenotypicFeature	hp	UMLS:C3805860			http://purl.obolibrary.org/obo/HP_0009026	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6077001|UMLS:C0085684|UMLS:C1866141		Foot drop|Foot extensor weakness|Footdrop	http://purl.obolibrary.org/obo/HP_0009027	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	biolink:PhenotypicFeature	hp	UMLS:C4024605		Generalised weakness of limb muscles	http://purl.obolibrary.org/obo/HP_0009028	Generalized weakness of the muscles of the arms and legs.
HP:0009031	Amyotrophy of ankle musculature	biolink:PhenotypicFeature	hp	UMLS:C4024604			http://purl.obolibrary.org/obo/HP_0009031	Atrophy of the muscles of the ankle.
HP:0009037	Segmental spinal muscular atrophy	biolink:PhenotypicFeature	hp	MSH:C566670|UMLS:C1866774			http://purl.obolibrary.org/obo/HP_0009037	
HP:0009042	Marked muscular hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C1846013			http://purl.obolibrary.org/obo/HP_0009042	Severe hypertrophy (increase in size) of muscle cells.
HP:0009044	obsolete Hypoplasia of deltoid muscle	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009044	
HP:0009045	Exercise-induced rhabdomyolysis	biolink:PhenotypicFeature	hp	UMLS:C4021526		Rhabdomyolysis with exercise	http://purl.obolibrary.org/obo/HP_0009045	Rhabdomyolysis induced by exercise.
HP:0009046	Difficulty running	biolink:PhenotypicFeature	hp	SNOMEDCT_US:282479002|UMLS:C0560346		Difficulty running	http://purl.obolibrary.org/obo/HP_0009046	Reduced ability to run.
HP:0009049	Peroneal muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1389118		Peroneal atrophy	http://purl.obolibrary.org/obo/HP_0009049	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	biolink:PhenotypicFeature	hp	UMLS:C4024603		Wasting of quad muscles	http://purl.obolibrary.org/obo/HP_0009050	Muscular atrophy involving the quadriceps muscle.
HP:0009051	Increased muscle glycogen content	biolink:PhenotypicFeature	hp	UMLS:C1968729			http://purl.obolibrary.org/obo/HP_0009051	An increased amount of glycogen in muscle tissue.
HP:0009053	Distal lower limb muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C1836450		Distal muscle weakness in lower limbs|Muscle weakness, lower limb, distal	http://purl.obolibrary.org/obo/HP_0009053	Reduced strength of the distal musculature of the legs.
HP:0009054	Scapuloperoneal myopathy	biolink:PhenotypicFeature	hp	MSH:C536624|UMLS:C2931268			http://purl.obolibrary.org/obo/HP_0009054	
HP:0009055	Generalized limb muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C1838114		Generalized muscle wasting|Generalised limb muscle atrophy|Generalized muscle atrophy, proximal and distal	http://purl.obolibrary.org/obo/HP_0009055	Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.
HP:0009056	Loss of subcutaneous adipose tissue from upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4024602		Loss of fat tissue below the skin from upper limbs	http://purl.obolibrary.org/obo/HP_0009056	
HP:0009058	Increased muscle lipid content	biolink:PhenotypicFeature	hp	UMLS:C1837262		Fat accumulation in muscle fibers|Fat deposits in muscle fibers|Increased muscle lipid content|Lipid accumulation in skeletal muscle|Skeletal muscle lipid accumulation|Muscle lipidosis	http://purl.obolibrary.org/obo/HP_0009058	An abnormal accumulation of lipids in skeletal muscle.
HP:0009059	Congenital generalized lipodystrophy	biolink:PhenotypicFeature	hp	MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032		Congenital generalised lipodystrophy	http://purl.obolibrary.org/obo/HP_0009059	
HP:0009060	Scapular muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C3805969			http://purl.obolibrary.org/obo/HP_0009060	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	biolink:PhenotypicFeature	hp	UMLS:C3806604		Hypotonia, axial, in infancy	http://purl.obolibrary.org/obo/HP_0009062	Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.
HP:0009063	Progressive distal muscle weakness	biolink:PhenotypicFeature	hp	UMLS:C1836609		Muscle weakness, distal, progressive|Muscle weakness, progressive, distal	http://purl.obolibrary.org/obo/HP_0009063	Progressively reduced strength of the distal musculature.
HP:0009064	Generalized lipodystrophy	biolink:PhenotypicFeature	hp	MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008|UMLS:C0221032		Generalised lipodystrophy|Lipodystrophy, generalized	http://purl.obolibrary.org/obo/HP_0009064	Generalized degenerative changes of the fat tissue.
HP:0009067	Progressive spinal muscular atrophy	biolink:PhenotypicFeature	hp	UMLS:C4082951		Progressive spinal muscle degeneration|Progressive spinal muscle wasting	http://purl.obolibrary.org/obo/HP_0009067	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	biolink:PhenotypicFeature	hp	MSH:C564017|UMLS:C1838876			http://purl.obolibrary.org/obo/HP_0009069	
HP:0009071	Inflammatory myopathy	biolink:PhenotypicFeature	hp	MSH:D009220|SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121			http://purl.obolibrary.org/obo/HP_0009071	Chronic muscle inflammation accompanied by muscle weakness.
HP:0009072	Decreased Achilles reflex	biolink:PhenotypicFeature	hp	UMLS:C1837323		Hyporeflexia at ankle joints	http://purl.obolibrary.org/obo/HP_0009072	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	biolink:PhenotypicFeature	hp	UMLS:C1836156		Muscle weakness, progressive, proximal	http://purl.obolibrary.org/obo/HP_0009073	Lack of strength of the proximal muscles that becomes progressively more severe.
HP:0009077	Weakness of long finger extensor muscles	biolink:PhenotypicFeature	hp	UMLS:C4024601			http://purl.obolibrary.org/obo/HP_0009077	
HP:0009084	Midline notch of upper alveolar ridge	biolink:PhenotypicFeature	hp	UMLS:C1851853		Midline cleft of maxillary alveolar process|Midline cleft of upper alveolar ridge|Midline notch of maxillary alveolar process|Midline notch of maxillary alveolar ridge|Midline notch of upper gum ridge	http://purl.obolibrary.org/obo/HP_0009084	
HP:0009085	Alveolar ridge overgrowth	biolink:PhenotypicFeature	hp	UMLS:C1856164|UMLS:C1865598	hposlim_core	Increased size of gum ridge|Overgrowth of gum ridge|Alveolar ridge excess|Enlarged alveolar ridge|Hyperplasia of alveolar process of jaw|Hyperplasia of alveolar ridge|Increased size of alveolar ridge|Overgrowth of alveolar ridge|Thick alveolar ridges|Thickened alveolar ridges|Hypertrophied alveolar ridge	http://purl.obolibrary.org/obo/HP_0009085	Increased width of the alveolar ridges.
HP:0009087	Posteriorly placed tongue	biolink:PhenotypicFeature	hp	UMLS:C4024600		Posteriorly placed tongue	http://purl.obolibrary.org/obo/HP_0009087	
HP:0009088	Speech articulation difficulties	biolink:PhenotypicFeature	hp	UMLS:C1865313			http://purl.obolibrary.org/obo/HP_0009088	Impairment in the physical production of speech sounds.
HP:0009090	obsolete Facial diplegic appearance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009090	
HP:0009092	Progressive alveolar ridge hypertropy	biolink:PhenotypicFeature	hp	UMLS:C1854934|UMLS:C4280407		Increasing size of gum ridge|Increasing overgrowth of gum ridge|Progressive hypertrophy of alveolar process of jaw	http://purl.obolibrary.org/obo/HP_0009092	
HP:0009094	Cleft lower alveolar ridge	biolink:PhenotypicFeature	hp	UMLS:C1849350|UMLS:C4280404|UMLS:C4280405|UMLS:C4280406		Cleft of lower gum ridge|Notch of lower gum ridge|Notch of lower alveolar ridge|Notch of mandibular alveolar ridge|Cleft of lower alveolar process|Cleft of lower gingiva|Cleft of mandibular alveolar process|Cleft of mandibular gingiva|Notch of lower alveolar process|Notch of mandibular alveolar process	http://purl.obolibrary.org/obo/HP_0009094	
HP:0009098	Chronic oral candidiasis	biolink:PhenotypicFeature	hp	UMLS:C4024599		Chronic oral thrush	http://purl.obolibrary.org/obo/HP_0009098	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	biolink:PhenotypicFeature	hp	UMLS:C1850968		Central cleft palate|Midline cleft palate	http://purl.obolibrary.org/obo/HP_0009099	Cleft palate of the midline of the palate.
HP:0009100	Thick anterior alveolar ridges	biolink:PhenotypicFeature	hp	UMLS:C1859377		Thick anterior alveolar process of jaw	http://purl.obolibrary.org/obo/HP_0009100	
HP:0009101	Submucous cleft lip	biolink:PhenotypicFeature	hp	UMLS:C1839277		Submucous labial cleft	http://purl.obolibrary.org/obo/HP_0009101	A cleft of the lip with overlying mucous membrane.
HP:0009102	Anterior open-bite malocclusion	biolink:PhenotypicFeature	hp	UMLS:C4024598		AOB|Absence of overlap of anterior upper and lower teeth|Gap between upper and lower front teeth when biting|Anterior open bite|Anterior open bite between upper and lower teeth|Anterior openbite|Apertognathia malocclusion	http://purl.obolibrary.org/obo/HP_0009102	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	biolink:PhenotypicFeature	hp	UMLS:C4024597		Absent/small pelvis|Absent/underdeveloped pelvis	http://purl.obolibrary.org/obo/HP_0009103	
HP:0009104	Aplasia/Hypoplasia of the pubic bone	biolink:PhenotypicFeature	hp	UMLS:C1849305		Absent/small pubic bones|Absent/underdeveloped pubic bones|Hypoplastic/aplastic pubic bones	http://purl.obolibrary.org/obo/HP_0009104	Absence or underdevelopment of the pubic bone.
HP:0009105	Abnormal ossification of the pubic bone	biolink:PhenotypicFeature	hp	UMLS:C4024596|UMLS:C4280403		Abnormal maturation of the pubic bone	http://purl.obolibrary.org/obo/HP_0009105	Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.
HP:0009106	Abnormal pelvis bone ossification	biolink:PhenotypicFeature	hp	UMLS:C4021525|UMLS:C4280402		Abnormal maturation of the pelvis bone|Abnormal ossification involving the bones of the pelvis	http://purl.obolibrary.org/obo/HP_0009106	An abnormality of the formation and mineralization of any bone of the bony pelvis.
HP:0009107	Abnormal ossification involving the femoral head and neck	biolink:PhenotypicFeature	hp	UMLS:C4024595		Abnormal maturation of thigh bone head and neck	http://purl.obolibrary.org/obo/HP_0009107	
HP:0009108	Aplasia/Hypoplasia involving the femoral head and neck	biolink:PhenotypicFeature	hp	UMLS:C4024594		Absent/small head and neck of thighbone|Absent/underdeveloped head and neck of thighbone	http://purl.obolibrary.org/obo/HP_0009108	
HP:0009109	Denervation of the diaphragm	biolink:PhenotypicFeature	hp	UMLS:C1858529			http://purl.obolibrary.org/obo/HP_0009109	Interruption of the innervation of the diaphragm.
HP:0009110	Diaphragmatic eventration	biolink:PhenotypicFeature	hp	MSH:D003965|SNOMEDCT_US:34168003|UMLS:C0011981		Eventration of the diaphragm	http://purl.obolibrary.org/obo/HP_0009110	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	biolink:PhenotypicFeature	hp	UMLS:C4024593		Absent left hemidiaphragm|Left diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0009112	Congenital absence of the left half of the diaphragm.
HP:0009113	Diaphragmatic weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95438009|UMLS:C0521532|UMLS:C4020786		Weak diaphragm|Diaphragmatic paraparesis|Diminished diaphragmatic motion	http://purl.obolibrary.org/obo/HP_0009113	A decrease in the strength of the diaphragm.
HP:0009115	Aplasia/hypoplasia involving the skeleton	biolink:PhenotypicFeature	hp	UMLS:C4024592		Absent/small skeleton|Absent/underdeveloped skeleton	http://purl.obolibrary.org/obo/HP_0009115	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	biolink:PhenotypicFeature	hp	UMLS:C4024591			http://purl.obolibrary.org/obo/HP_0009116	
HP:0009117	Aplasia/Hypoplasia of the maxilla	biolink:PhenotypicFeature	hp	UMLS:C4024590		Underdevelopment of upper jaw bones|Underdevelopment of maxilla	http://purl.obolibrary.org/obo/HP_0009117	Absence or underdevelopment of the maxilla.
HP:0009118	Aplasia/Hypoplasia of the mandible	biolink:PhenotypicFeature	hp	MSH:D063173|UMLS:C3494426|UMLS:C4021371|UMLS:C4024589|UMLS:C4280261|UMLS:C4280401			http://purl.obolibrary.org/obo/HP_0009118	Absence or underdevelopment of the mandible.
HP:0009119	Aplasia/Hypoplasia of the frontal sinuses	biolink:PhenotypicFeature	hp	UMLS:C4024588		Abnormally small frontal sinus	http://purl.obolibrary.org/obo/HP_0009119	Absence or underdevelopment of frontal sinus.
HP:0009120	Aplasia/Hypoplasia involving the sinuses	biolink:PhenotypicFeature	hp	UMLS:C4024587			http://purl.obolibrary.org/obo/HP_0009120	Absence or underdevelopment of a cranial sinus or sinuses.
HP:0009121	Abnormal axial skeleton morphology	biolink:PhenotypicFeature	hp	UMLS:C4020785|UMLS:C4024586		Abnormality of the axial skeleton	http://purl.obolibrary.org/obo/HP_0009121	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	biolink:PhenotypicFeature	hp	UMLS:C4024585			http://purl.obolibrary.org/obo/HP_0009122	Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.
HP:0009123	Mixed hypo- and hyperpigmentation of the skin	biolink:PhenotypicFeature	hp	UMLS:C4024584			http://purl.obolibrary.org/obo/HP_0009123	
HP:0009124	Abnormal adipose tissue morphology	biolink:PhenotypicFeature	hp	UMLS:C4021524		Abnormality of adipose tissue|Abnormality of fat tissue|Abnormality of fatty tissue	http://purl.obolibrary.org/obo/HP_0009124	An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.
HP:0009125	Lipodystrophy	biolink:PhenotypicFeature	hp	MSH:D008060|SNOMEDCT_US:71325002|UMLS:C0023787		Inability to make and keep healthy fat tissue	http://purl.obolibrary.org/obo/HP_0009125	Degenerative changes of the fat tissue.
HP:0009126	Increased adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C4024583		Increased adipose tissue|Increased fat tissue	http://purl.obolibrary.org/obo/HP_0009126	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	biolink:PhenotypicFeature	hp	UMLS:C4024582		Abnormal limb muscles|Muscle issues in the arms and/or legs	http://purl.obolibrary.org/obo/HP_0009127	
HP:0009128	Aplasia/Hypoplasia involving the musculature of the extremities	biolink:PhenotypicFeature	hp	UMLS:C4024581		Absent/small muscles of extremities|Absent/underdeveloped muscles of extremities	http://purl.obolibrary.org/obo/HP_0009128	
HP:0009129	Upper limb amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C4021523		Amyotrophy involving the upper limbs	http://purl.obolibrary.org/obo/HP_0009129	Muscular atrophy involving the muscles of the upper limbs.
HP:0009130	Hand muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C0239830		Hand muscle degeneration|Amyotrophy involving the musculature of the hand|Amyotrophy of hand muscles|Hand muscle wasting|Hand muscle wasting, bilateral	http://purl.obolibrary.org/obo/HP_0009130	Muscular atrophy involving the muscles of the hand.
HP:0009131	Abnormality of the musculature of the thorax	biolink:PhenotypicFeature	hp	UMLS:C4024580			http://purl.obolibrary.org/obo/HP_0009131	A disease or lesion affecting the muscles of the thorax.
HP:0009132	Abnormal tarsal bone mineral density	biolink:PhenotypicFeature	hp	UMLS:C4021522		Abnormality of bone mineral density involving tarsal bones	http://purl.obolibrary.org/obo/HP_0009132	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	biolink:PhenotypicFeature	hp	UMLS:C4024579			http://purl.obolibrary.org/obo/HP_0009134	
HP:0009136	Duplication involving bones of the feet	biolink:PhenotypicFeature	hp	UMLS:C4024578		Duplication involving bones of the feet	http://purl.obolibrary.org/obo/HP_0009136	
HP:0009138	Synostosis involving bones of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4024577		Fusion involving the bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0009138	An abnormal union between bones or parts of bones lower limbs.
HP:0009139	Osteolysis involving bones of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4024576			http://purl.obolibrary.org/obo/HP_0009139	
HP:0009140	Synostosis involving bones of the feet	biolink:PhenotypicFeature	hp	UMLS:C4024575		Fusion involving the bones of the feet	http://purl.obolibrary.org/obo/HP_0009140	
HP:0009141	Depletion of mitochondrial DNA in muscle tissue	biolink:PhenotypicFeature	hp	UMLS:C4021521		Depletion of mitochondrial dna in skeletal muscle tissue	http://purl.obolibrary.org/obo/HP_0009141	
HP:0009142	Duplication of bones involving the upper extremities	biolink:PhenotypicFeature	hp	UMLS:C4024574		Duplication of bones involving the upper extremities	http://purl.obolibrary.org/obo/HP_0009142	
HP:0009144	Supernumerary bones of the axial skeleton	biolink:PhenotypicFeature	hp	UMLS:C4024573			http://purl.obolibrary.org/obo/HP_0009144	
HP:0009145	Abnormal cerebral artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4021520		Abnormality of cerebral artery|Abnormality of the cerebral arteries	http://purl.obolibrary.org/obo/HP_0009145	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	biolink:PhenotypicFeature	hp	UMLS:C4024572		Enlarged end part of the outermost bone of little finger|Enlarged end part of the outermost bone of pinkie finger|Enlarged end part of the outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009147	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	biolink:PhenotypicFeature	hp	UMLS:C4024571		Small end part of the outermost bone of little finger|Small end part of the outermost bone of pinkie finger|Small end part of the outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009148	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	biolink:PhenotypicFeature	hp	UMLS:C4021519		Triangular end part of the outermost bone of little finger|Triangular end part of the outermost bone of pinkie finger|Triangular end part of the outermost bone of pinky finger|Delta-shaped epiphysis of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009149	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	biolink:PhenotypicFeature	hp	UMLS:C4024570		Abnormality of the innermost bone little finger|Abnormality of the innermost bone pinkie finger|Abnormality of the innermost bone pinky finger	http://purl.obolibrary.org/obo/HP_0009150	Abnormality of the proximal phalanx of the little (5th) finger.
HP:0009152	Abnormality of the epiphyses of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024569		Abnormality of end part of little finger bone|Abnormality of end part of pinkie finger bone|Abnormality of end part of pinky finger bone	http://purl.obolibrary.org/obo/HP_0009152	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	biolink:PhenotypicFeature	hp	UMLS:C4024568		Abnormality of end part of the innermost bone of little finger|Abnormality of end part of the innermost bone of pinkie finger|Abnormality of end part of the innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009153	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	biolink:PhenotypicFeature	hp	UMLS:C4021518		Delta-shaped epiphysis of the proximal phalanx of the 5th finger|Triangular end part of the innermost bone of little finger|Triangular end part of the innermost bone of pinkie finger|Triangular end part of the innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009154	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	biolink:PhenotypicFeature	hp	UMLS:C4020783|UMLS:C4020784		Cone-shaped end part of the innermost bone of little finger|Cone-shaped end part of the innermost bone of pinkie finger|Cone-shaped end part of the innermost bone of pinky finger|Angel-shaped epiphysis of the proximal phalanx of the 5th finger|Cone-shaped epiphysis of the proximal phalanx of the little finger	http://purl.obolibrary.org/obo/HP_0009155	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	biolink:PhenotypicFeature	hp	UMLS:C4020782|UMLS:C4024567		Increased bone density of end part of the innermost bone of pinkie finger|Increased bone density of end part of the innermost bone of pinky finger|Ivory epiphysis of the proximal phalanx of the little finger|Increased bone density of end part of the innermost bone of little finger	http://purl.obolibrary.org/obo/HP_0009157	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	biolink:PhenotypicFeature	hp	UMLS:C4024566		Enlarged end part of the innermost bone of little finger|Enlarged end part of the innermost bone of pinkie finger|Enlarged end part of the innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009158	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	biolink:PhenotypicFeature	hp	UMLS:C4024565		Small end part of the innermost bone of little finger|Small end part of the innermost bone of pinkie finger|Small end part of the innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009159	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	biolink:PhenotypicFeature	hp	UMLS:C4024564		Absent end part of the innermost bone of little finger|Absent end part of the innermost bone of pinkie finger|Absent end part of the innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009160	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	biolink:PhenotypicFeature	hp	UMLS:C1834034		Absent/small middle bone of pinky finger|Absent/underdeveloped middle bone of little finger|Absent/underdeveloped middle bone of pinkie finger|Absent/underdeveloped middle bone of pinky finger|Absent/hypoplastic middle phalanx of 5th finger	http://purl.obolibrary.org/obo/HP_0009161	Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.
HP:0009162	Absent middle phalanx of 5th finger	biolink:PhenotypicFeature	hp	UMLS:C3277750		Absent middle bone of little finger|Absent middle bone of pinkie finger|Absent middle bone of pinky finger|Aplasia of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009162	Absence of the middle phalanx of the little (5th) finger.
HP:0009163	obsolete Abnormal form of the 5th finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009163	
HP:0009164	Abnormal calcification of the carpal bones	biolink:PhenotypicFeature	hp	UMLS:C1968592		Abnormal calcification of the wrist bones|Carpal calcifications	http://purl.obolibrary.org/obo/HP_0009164	
HP:0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024563		Speckled calcifications in end part of the outermost bone of little finger|Speckled calcifications in end part of the outermost bone of pinkie finger|Speckled calcifications in end part of the outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009165	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	biolink:PhenotypicFeature	hp	UMLS:C4024562		Fragmentation of end part of the outermost bone of little finger|Fragmentation of end part of the outermost bone of pinkie finger|Fragmentation of end part of the outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009166	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	biolink:PhenotypicFeature	hp	UMLS:C4024561		Irregular end part of the outermost bone of little finger|Irregular end part of the outermost bone of pinkie finger|Irregular end part of the outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009167	Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.
HP:0009168	Bullet-shaped middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024560		Bullet-shaped middle little finger bone|Bullet-shaped middle pinkie finger bone|Bullet-shaped middle pinky finger bone	http://purl.obolibrary.org/obo/HP_0009168	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	biolink:PhenotypicFeature	hp	UMLS:C4021517		Broad middle bone of little finger|Broad middle bone of pinkie finger|Broad middle bone of pinky finger|Wide middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009169	Increased width of the middle phalanx of the 5th finger.
HP:0009170	Osteolytic defects of the middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024559			http://purl.obolibrary.org/obo/HP_0009170	Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.
HP:0009171	Triangular epiphyses of the metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4024558		Triangular end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009171	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	biolink:PhenotypicFeature	hp	UMLS:C4021516		Abnormal bones of 4th finger|Abnormality of the phalanges of the ring finger	http://purl.obolibrary.org/obo/HP_0009172	Abnormality of the phalanges of the 4th (ring) finger.
HP:0009173	Curved middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024557		Curved middle bone of little finger|Curved middle bone of pinkie finger|Curved middle bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009173	Curved appearance of the middle phalanx of the 5th finger.
HP:0009174	Abnormality of the epiphyses of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024556		Abnormality of the end part of the ring finger	http://purl.obolibrary.org/obo/HP_0009174	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	biolink:PhenotypicFeature	hp	UMLS:C4024555		Uneven increase in bone density in the middle bone of the little finger|Uneven increase in bone density in the middle bone of the pinkie finger|Uneven increase in bone density in the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009175	Patchy increase in bone density of the middle phalanx of the 5th finger.
HP:0009177	Proximal/middle symphalangism of 5th finger	biolink:PhenotypicFeature	hp	UMLS:C1836212		Fused innermost and middle bones of little finger|Fused innermost and middle bones of pinkie finger|Fused innermost and middle bones of pinky finger|Proximal 5th finger symphalangism|Proximal fifth finger symphalangism|Symphalangism of the proximal and middle phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009177	Fusion of the proximal and middle phalanges of the 5th finger.
HP:0009178	Symphalangism of middle phalanx of 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024554		Fused middle bones of little finger|Fused middle bones of pinkie finger|Fused middle bones of pinky finger	http://purl.obolibrary.org/obo/HP_0009178	Fusion of the middle phalanx of the 5th finger with another bone.
HP:0009179	Deviation of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021515		Displaced little finger|Displaced pinkie finger|Displaced pinky finger|Laterally displaced fifth finger	http://purl.obolibrary.org/obo/HP_0009179	Displacement of the 5th finger from its normal position.
HP:0009180	Ulnar deviation of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024553			http://purl.obolibrary.org/obo/HP_0009180	Displacement of the 5th finger towards the ulnar side.
HP:0009182	Triangular shaped middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024552		Triangular shaped middle little finger bone|Triangular shaped middle pinkie finger bone|Triangular shaped middle pinky finger bone	http://purl.obolibrary.org/obo/HP_0009182	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	biolink:PhenotypicFeature	hp	UMLS:C1865702		5th finger camptodactyly|Fifth finger camptodactyly	http://purl.obolibrary.org/obo/HP_0009183	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	biolink:PhenotypicFeature	hp	UMLS:C4024551			http://purl.obolibrary.org/obo/HP_0009184	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	biolink:PhenotypicFeature	hp	UMLS:C3554612			http://purl.obolibrary.org/obo/HP_0009185	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	biolink:PhenotypicFeature	hp	UMLS:C4024550			http://purl.obolibrary.org/obo/HP_0009186	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	biolink:PhenotypicFeature	hp	UMLS:C4024549		Bracket shaped end part of the outermost little finger bone|Bracket shaped end part of the outermost pinkie finger bone|Bracket shaped end part of the outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009187	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	biolink:PhenotypicFeature	hp	UMLS:C4024548			http://purl.obolibrary.org/obo/HP_0009188	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	biolink:PhenotypicFeature	hp	UMLS:C4024547		Fragmentation of end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009189	Fragmented appearance of the epiphyses of the metacarpals.
HP:0009190	Irregular epiphyses of the metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4024546		Irregular end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009190	Irregular radiographic opacity of the epiphyses of the metacarpals.
HP:0009191	Ivory epiphyses of the metacarpals	biolink:PhenotypicFeature	hp	UMLS:C4024545		Increased bone density of end part of the long bone of hands	http://purl.obolibrary.org/obo/HP_0009191	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	biolink:PhenotypicFeature	hp	UMLS:C4024544		Absent/small innermost little finger bone|Absent/small innermost pinkie finger bone|Absent/small innermost pinky finger bone|Absent/underdeveloped innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009192	Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.
HP:0009193	Pseudoepiphyses of the metacarpals	biolink:PhenotypicFeature	hp	UMLS:C1860253		Accessory proximal metacarpal ossification centers|Metacarpal pseudoepiphyses	http://purl.obolibrary.org/obo/HP_0009193	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	biolink:PhenotypicFeature	hp	UMLS:C4024543		Small end part of the long bone of hand	http://purl.obolibrary.org/obo/HP_0009194	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	biolink:PhenotypicFeature	hp	UMLS:C4021514		Speckled calcifications in end part of the long bone of hand|Stippling of the epiphyses of the metacarpals	http://purl.obolibrary.org/obo/HP_0009195	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.
HP:0009196	Absent metacarpal epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4021513		Absent end part of the long bone of hand|Absent metacarpal ossification center	http://purl.obolibrary.org/obo/HP_0009196	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	biolink:PhenotypicFeature	hp	UMLS:C4024542		Bracket shaped end part of the innermost bone of the little finger|Bracket shaped end part of the innermost bone of the pinkie finger|Bracket shaped end part of the innermost bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009197	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	biolink:PhenotypicFeature	hp	UMLS:C4021512		Abnormality of end part of the outermost bone of the little finger|Abnormality of end part of the outermost bone of the pinkie finger|Abnormality of end part of the outermost bone of the pinky finger|Abnormality of the epiphysis of the terminal phalanx of the little finger	http://purl.obolibrary.org/obo/HP_0009198	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	biolink:PhenotypicFeature	hp	UMLS:C4024541		Irregular end part of the innermost little finger bone|Irregular end part of the innermost pinkie finger bone|Irregular end part of the innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009199	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	biolink:PhenotypicFeature	hp	UMLS:C4024540			http://purl.obolibrary.org/obo/HP_0009200	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	biolink:PhenotypicFeature	hp	UMLS:C4024539		Speckled calcifications in end part of the innnermost bone of the little finger|Speckled calcifications in end part of the innnermost bone of the pinkie finger|Speckled calcifications in end part of the innnermost bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009201	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	biolink:PhenotypicFeature	hp	UMLS:C4024538		Fragmentation of end part of the innermost bone of the little finger|Fragmentation of end part of the innermost bone of the pinkie finger|Fragmentation of end part of the innermost bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009202	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	biolink:PhenotypicFeature	hp	UMLS:C4024537		Absent end part of the middle bone of the little finger|Absent end part of the middle bone of the pinkie finger|Absent end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009203	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	biolink:PhenotypicFeature	hp	UMLS:C4024536		Bracket shaped end part of the middle bone of the little finger|Bracket shaped end part of the middle bone of the pinkie finger|Bracket shaped end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009204	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	biolink:PhenotypicFeature	hp	UMLS:C4024535		Cone-shaped end part of the middle bone of the little finger|Cone-shaped end part of the middle bone of the pinkie finger|Cone-shaped end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009205	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	biolink:PhenotypicFeature	hp	UMLS:C4024534		Enlarged end part of the middle bone of the little finger|Enlarged end part of the middle bone of the pinkie finger|Enlarged end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009206	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	biolink:PhenotypicFeature	hp	UMLS:C4024533		Fragmentation of end part of the middle bone of the little finger|Fragmentation of end part of the middle bone of the pinkie finger|Fragmentation of end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009207	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	biolink:PhenotypicFeature	hp	UMLS:C4024532		Irregular end part of the middle bone of the little finger|Irregular end part of the middle bone of the pinkie finger|Irregular end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009208	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	biolink:PhenotypicFeature	hp	UMLS:C4024531		Increased bone density of end part of the middle bone of little finger|Increased bone density of end part of the middle bone of pinkie finger|Increased bone density of end part of the middle bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009209	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	biolink:PhenotypicFeature	hp	UMLS:C4024530			http://purl.obolibrary.org/obo/HP_0009210	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	biolink:PhenotypicFeature	hp	UMLS:C4024529		Small end part of the middle bone of the little finger|Small end part of the middle bone of the pinkie finger|Small end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009211	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	biolink:PhenotypicFeature	hp	UMLS:C4024528		Speckled calcifications in end part of the middle bone of the little finger|Speckled calcifications in end part of the middle bone of the pinkie finger|Speckled calcifications in end part of the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0009212	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	biolink:PhenotypicFeature	hp	UMLS:C4021511		Triangular end part of the middle bone of the little finger|Triangular end part of the middle bone of the pinkie finger|Triangular end part of the middle bone of the pinky finger|Delta-shaped epiphysis of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009213	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	biolink:PhenotypicFeature	hp	UMLS:C4024527		Absent end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009214	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	biolink:PhenotypicFeature	hp	UMLS:C4024526		Bracket shaped end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009215	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	biolink:PhenotypicFeature	hp	UMLS:C4024525		Cone-shaped end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009216	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	biolink:PhenotypicFeature	hp	UMLS:C4024524		Enlarged end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009217	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	biolink:PhenotypicFeature	hp	UMLS:C4024523		Fragmentation of end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009218	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	biolink:PhenotypicFeature	hp	UMLS:C4024522		Irregular end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009219	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	biolink:PhenotypicFeature	hp	UMLS:C4024521		Increased bone density of end part of the middle ring finger bone	http://purl.obolibrary.org/obo/HP_0009220	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	biolink:PhenotypicFeature	hp	UMLS:C4024520			http://purl.obolibrary.org/obo/HP_0009221	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	biolink:PhenotypicFeature	hp	UMLS:C4024519		Small end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009222	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	biolink:PhenotypicFeature	hp	UMLS:C4024518		Speckled calcifications in end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009223	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	biolink:PhenotypicFeature	hp	UMLS:C4021510		Triangular end part of the middle bone of the ring finger|Delta-shaped epiphysis of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009224	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	biolink:PhenotypicFeature	hp	UMLS:C4024517		Absent innermost bone of little finger|Absent innermost bone of pinkie finger|Absent innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009225	Absence of the proximal phalanx of the little (5th) finger.
HP:0009226	Short proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021509		Short innermost pinkie finger bone|Short innermost pinky finger bone|Short proximal phalanx of the fifth finger|Hypoplastic/small proximal phalanx of the 5th finger|Short innermost little finger bone	http://purl.obolibrary.org/obo/HP_0009226	Hypoplastic/small proximal phalanx of the fifth finger.
HP:0009227	Broad proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021508		Broad innermost little finger bone|Broad innermost pinkie finger bone|Broad innermost pinky finger bone|Wide proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009227	Increased width of the proximal phalanx of the 5th finger.
HP:0009228	Bullet-shaped proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024516		Bullet-shaped innermost little finger bone|Bullet-shaped innermost pinkie finger bone|Bullet-shaped innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009228	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	biolink:PhenotypicFeature	hp	UMLS:C4024515		Curved innermost bone of little finger|Curved innermost bone of pinkie finger|Curved innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009229	Curved appearance of the proximal phalanx of the 5th finger.
HP:0009230	Osteolytic defects of the proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024514			http://purl.obolibrary.org/obo/HP_0009230	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	biolink:PhenotypicFeature	hp	UMLS:C4024513		Uneven increase in bone density in the innermost bone of little finger|Uneven increase in bone density in the innermost bone of pinkie finger|Uneven increase in bone density in the innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009231	Patchy increase in bone density of the proximal phalanx of the 5th finger.
HP:0009232	Symphalangism affecting the proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024512		Fused innermost bone of little finger|Fused innermost bone of pinkie finger|Fused innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009232	Fusion of the proximal phalanx of the 5th finger with another bone.
HP:0009233	Triangular shaped proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024511		Triangular shaped innermost little finger bone|Triangular shaped innermost pinkie finger bone|Triangular shaped innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009233	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	biolink:PhenotypicFeature	hp	UMLS:C4024510		Fused innermost bone of little finger with 5th long bone of hand|Fused innermost bone of pinkie finger with 5th long bone of hand|Fused innermost bone of pinky finger with 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0009234	Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.
HP:0009236	Rhomboid or triangular shaped 5th finger proximal phalanx	biolink:PhenotypicFeature	hp	UMLS:C4024509		Rhomboid or triangular shaped innermost bone of little finger|Rhomboid or triangular shaped innermost bone of pinkie finger|Rhomboid or triangular shaped innermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009236	Rhomboid or triangular shaped 5th (little) finger proximal phalanx.
HP:0009237	Short 5th finger	biolink:PhenotypicFeature	hp	UMLS:C1842878		Short 5th finger|Short fifth finger|Short fifth fingers|Short little finger|Short pinkie finger|Short pinky finger|Fifth finger brachydactyly|Hypoplastic phalanges of the little finger|Hypoplastic/small 5th finger|Hypoplastic/small little finger|Short phalanges of the little finger	http://purl.obolibrary.org/obo/HP_0009237	Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
HP:0009238	Aplasia of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024508		Absent little finger|Absent pinkie finger|Absent pinky finger	http://purl.obolibrary.org/obo/HP_0009238	Absent 5th (little) finger.
HP:0009239	Aplasia/Hypoplasia of the distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024507		Absent/small outermost bone of little finger|Absent/small outermost bone of pinkie finger|Absent/small outermost bone of pinky finger|Absent/underdeveloped outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009239	
HP:0009240	Broad distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024506		Broad outermost little finger bone|Broad outermost pinkie finger bone|Broad outermost pinky finger bone|Wide outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009240	Increased width of the distal phalanx of the 5th finger.
HP:0009241	Bullet-shaped distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024505		Bullet-shaped outermost little finger bone|Bullet-shaped outermost pinkie finger bone|Bullet-shaped outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009241	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	biolink:PhenotypicFeature	hp	UMLS:C4024504			http://purl.obolibrary.org/obo/HP_0009242	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	biolink:PhenotypicFeature	hp	UMLS:C4024503		Uneven increase in bone density in the outermost bone of little finger|Uneven increase in bone density in the outermost bone of pinkie finger|Uneven increase in bone density in the outermost bone of pinky finger	http://purl.obolibrary.org/obo/HP_0009243	Patchy increase in bone density of the distal phalanx of the 5th finger.
HP:0009244	Distal/middle symphalangism of 5th finger	biolink:PhenotypicFeature	hp	UMLS:C1868573|UMLS:C4020781		Fused end and middle bones of little finger|Fused end and middle bones of pinkie finger|Fused end and middle bones of pinky finger|Fusion of the terminal and middle phalanges of the 5th finger|Fifth finger distal interphalangeal joint symphalangism|Symphalangism of the distal and middle phalanges of the 5th finger|Symphalangism of the terminal and middle phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009244	Fusion of the terminal/distal and middle phalanges of the 5th finger.
HP:0009245	Triangular shaped distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024502		Triangular shaped outermost little finger bone|Triangular shaped outermost pinkie finger bone|Triangular shaped outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009245	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	biolink:PhenotypicFeature	hp	UMLS:C4024501		Absent outermost little finger bone|Absent outermost pinkie finger bone|Absent outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009246	Absence of the distal phalanx of the little (5th) finger.
HP:0009247	Abnormality of the epiphysis of the middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024500		Abnormality of the end part of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009247	
HP:0009248	Abnormality of the epiphysis of the proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024499		Abnormality of the end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009248	
HP:0009249	Abnormality of the epiphysis of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024498		Abnormality of the end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009249	
HP:0009250	Absent epiphysis of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024497		Absent end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009250	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	biolink:PhenotypicFeature	hp	UMLS:C4024496		Bracket shaped end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009251	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	biolink:PhenotypicFeature	hp	UMLS:C4024495		Cone-shaped end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009252	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	biolink:PhenotypicFeature	hp	UMLS:C4024494		Enlarged end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009253	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	biolink:PhenotypicFeature	hp	UMLS:C4024493		Fragmentation of end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009254	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	biolink:PhenotypicFeature	hp	UMLS:C4024492		Irregular end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009255	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	biolink:PhenotypicFeature	hp	UMLS:C4024491		Increased bone density of end part of the outermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009256	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	biolink:PhenotypicFeature	hp	UMLS:C4024490			http://purl.obolibrary.org/obo/HP_0009257	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	biolink:PhenotypicFeature	hp	UMLS:C4024489		Small end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009258	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	biolink:PhenotypicFeature	hp	UMLS:C4024488		Speckled calcifications in the end part of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009259	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	biolink:PhenotypicFeature	hp	UMLS:C4021507		Triangular end part of the outermost bone of ring finger|Delta-shaped epiphysis of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009260	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	biolink:PhenotypicFeature	hp	UMLS:C4024487		Absent end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009261	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	biolink:PhenotypicFeature	hp	UMLS:C4021506		Bracket shaped end part of the innermost bone of the ring finger|Bracket proximal epiphysis of the ring finger	http://purl.obolibrary.org/obo/HP_0009262	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	biolink:PhenotypicFeature	hp	UMLS:C4024486		Cone-shaped end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009263	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	biolink:PhenotypicFeature	hp	UMLS:C4024485		Enlarged end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009264	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	biolink:PhenotypicFeature	hp	UMLS:C4024484		Fragmentation of end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009265	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	biolink:PhenotypicFeature	hp	UMLS:C4024483		Irregular end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009266	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	biolink:PhenotypicFeature	hp	UMLS:C4024482		Increased bone density of end part of the innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009267	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	biolink:PhenotypicFeature	hp	UMLS:C4024481			http://purl.obolibrary.org/obo/HP_0009268	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	biolink:PhenotypicFeature	hp	UMLS:C4024480		Small end part of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009269	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	biolink:PhenotypicFeature	hp	UMLS:C4024479		Speckled calcifications in end part of the innermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009270	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	biolink:PhenotypicFeature	hp	UMLS:C4021505		Triangular end part of the innermost bone of ring finger|Delta-shaped epiphysis of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009271	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	biolink:PhenotypicFeature	hp	UMLS:C4024478		Absent/small ring finger bone|Absent/underdeveloped ring finger bone	http://purl.obolibrary.org/obo/HP_0009272	A small/hypoplastic or absent/aplastic 4th (ring) finger.
HP:0009273	Deviation of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024477		Deviation of the ring finger	http://purl.obolibrary.org/obo/HP_0009273	Displacement of the 4th finger from its normal position.
HP:0009274	Joint contracture of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021504		Joint contractures of the fourth finger	http://purl.obolibrary.org/obo/HP_0009274	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	biolink:PhenotypicFeature	hp	UMLS:C4024476			http://purl.obolibrary.org/obo/HP_0009275	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	biolink:PhenotypicFeature	hp	UMLS:C4021503		4th finger camptodactyly|Camptodactyly of the 4th finger|Camptodactyly of the ring finger	http://purl.obolibrary.org/obo/HP_0009276	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	biolink:PhenotypicFeature	hp	UMLS:C4024475			http://purl.obolibrary.org/obo/HP_0009277	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	biolink:PhenotypicFeature	hp	UMLS:C4024474		Ulnar deviation of the ring finger	http://purl.obolibrary.org/obo/HP_0009278	Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).
HP:0009279	Radial deviation of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024473		Radial deviation of the ring finger	http://purl.obolibrary.org/obo/HP_0009279	Displacement of the 4th finger towards the radial side (i.e., towards the thumb).
HP:0009280	Short 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021502		Short ring finger|Hypoplastic/small 4th finger	http://purl.obolibrary.org/obo/HP_0009280	Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.
HP:0009281	Aplasia of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024472		Absent ring finger	http://purl.obolibrary.org/obo/HP_0009281	Absent 4th finger.
HP:0009282	Abnormality of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024471		Abnormality of the outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009282	
HP:0009283	Abnormality of the middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021501		Abnormal middle bone of ring finger|Abnormality of the middle phalanx of the ring finger	http://purl.obolibrary.org/obo/HP_0009283	
HP:0009284	Abnormality of the proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021500		Abnormal innermost bone of ring finger|Abnormality of the proximal phalanx of the ring finger	http://purl.obolibrary.org/obo/HP_0009284	
HP:0009285	Curved phalanges of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024470		Curved ring finger bone	http://purl.obolibrary.org/obo/HP_0009285	Curved appearance of the phalanges of the 4th (ring) finger.
HP:0009286	Curved distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024469		Curved outermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009286	Curved appearance of the distal phalanx of the 4th (ring) finger.
HP:0009287	Curved middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024468		Curved middle ring finger bone	http://purl.obolibrary.org/obo/HP_0009287	Curved appearance of the middle phalanx of the 4th (ring) finger.
HP:0009288	Curved proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024467		Curved innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009288	
HP:0009289	Aplasia/Hypoplasia of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024466		Absent/small outermost ring finger bone|Absent/underdeveloped outermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009289	
HP:0009290	Short distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021499		Short outermost bone of ring finger|Hypoplastic/small distal phalanx of the 4th finger|Short distal phalanx of the fourth finger	http://purl.obolibrary.org/obo/HP_0009290	Hypoplastic/small distal phalanx of the fourth finger.
HP:0009291	Aplasia of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024465		Absent outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009291	Absence of the distal phalanx of the ring (4th) finger.
HP:0009292	Broad distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024464		Broad outermost bone of ring finger|Wide outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009292	Increased width of the distal phalanx of the 4th finger.
HP:0009293	Broad middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024463		Broad middle bone of the 4th finger	http://purl.obolibrary.org/obo/HP_0009293	Increased width of the middle phalanx of the 4th finger.
HP:0009294	Absent middle phalanx of 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021498		Absent middle bone of 4th finger|Aplasia of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009294	Absence of the middle phalanx of the ring (4th) finger.
HP:0009295	Short middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021497		Short middle bone of 4th finger|Hypoplastic/small middle phalanx of ring finger|Hypoplastic/small middle phalanx of the 4th finger|Short middle phalanx of ring finger	http://purl.obolibrary.org/obo/HP_0009295	Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.
HP:0009296	Bullet-shaped middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024462		Bullet-shaped middle bone of the 4th finger	http://purl.obolibrary.org/obo/HP_0009296	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	biolink:PhenotypicFeature	hp	UMLS:C4024461			http://purl.obolibrary.org/obo/HP_0009297	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	biolink:PhenotypicFeature	hp	UMLS:C4024460		Absent innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009298	Absence of the proximal phalanx of the ring (4th) finger.
HP:0009299	Aplasia/Hypoplasia of the middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024459		Absent/small middle ring finger bone|Absent/underdeveloped middle ring finger bone	http://purl.obolibrary.org/obo/HP_0009299	
HP:0009300	Aplasia/Hypoplasia of the proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4020658		Absent/small innermost ring finger bone|Absent/underdeveloped innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009300	
HP:0009301	Short proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021496		Short innermost bone of the ring finger|Hypoplastic/small proximal phalanx of the 4th finger|Short proximal phalanx of the fourth finger	http://purl.obolibrary.org/obo/HP_0009301	Hypoplastic/small proximal phalanx of the fourth finger.
HP:0009302	Bullet-shaped distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024458		Bullet-shaped outermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009302	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	biolink:PhenotypicFeature	hp	UMLS:C4024457			http://purl.obolibrary.org/obo/HP_0009303	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	biolink:PhenotypicFeature	hp	UMLS:C4024456		Uneven increase in bone density in the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009304	Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.
HP:0009305	Distal/middle symphalangism of 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021495		Fused outermost and middle bones of ring finger|Symphalangism of the distal and middle phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009305	Fusion of the terminal/distal and middle phalanges of the 4th finger.
HP:0009306	Triangular shaped distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024455		Triangular shaped outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009306	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	biolink:PhenotypicFeature	hp	UMLS:C4024454		Uneven increase in bone density in the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009307	Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.
HP:0009308	Symphalangism of middle phalanx of 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024453		Fused middle bone of ring finger	http://purl.obolibrary.org/obo/HP_0009308	Fusion of the middle phalanx of the 4th finger with another bone.
HP:0009309	Triangular shaped middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024452		Triangular shaped middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009309	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	biolink:PhenotypicFeature	hp	UMLS:C4020660		Broad innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009310	Increased width of the proximal phalanx of the 4th finger.
HP:0009311	Bullet-shaped proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024451		Bullet-shaped innermost ring finger bone	http://purl.obolibrary.org/obo/HP_0009311	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	biolink:PhenotypicFeature	hp	UMLS:C4024450			http://purl.obolibrary.org/obo/HP_0009312	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	biolink:PhenotypicFeature	hp	UMLS:C4024449		Uneven increase in bone density in the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009313	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	biolink:PhenotypicFeature	hp	UMLS:C4024448		Fused innermost bone of ring finger	http://purl.obolibrary.org/obo/HP_0009314	Fusion of the proximal phalanx of the 4th finger with another bone.
HP:0009315	Triangular shaped proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024447		Triangular shaped innermost bone of the 4th finger|Triangular shaped innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009315	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	biolink:PhenotypicFeature	hp	UMLS:C4021494		Abnormality of the middle finger bones|Abnormality of 3rd finger phalanges|Abnormality of middle finger phalanges|Abnormality of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009316	Abnormality of the phalanges of the 3rd (middle) finger.
HP:0009317	Deviation of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021493		Deviated middle finger	http://purl.obolibrary.org/obo/HP_0009317	Displacement of the 3rd finger from its normal position.
HP:0009318	Aplasia/Hypoplasia of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024446		Absent/small middle finger|Absent/underdeveloped middle finger	http://purl.obolibrary.org/obo/HP_0009318	A small/hypoplastic or absent/aplastic 3rd (middle) finger.
HP:0009319	Joint contracture of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021492		Camptodactyly of middle finger	http://purl.obolibrary.org/obo/HP_0009319	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	biolink:PhenotypicFeature	hp	UMLS:C4024445		Abnormality of end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009320	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	biolink:PhenotypicFeature	hp	UMLS:C4024444		Absent end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009321	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	biolink:PhenotypicFeature	hp	UMLS:C4024443		Bracket shaped end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009322	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	biolink:PhenotypicFeature	hp	UMLS:C4024442		Cone-shaped end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009323	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	biolink:PhenotypicFeature	hp	UMLS:C4024441		Enlarged end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009324	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	biolink:PhenotypicFeature	hp	UMLS:C4024440		Fragmentation of end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009325	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	biolink:PhenotypicFeature	hp	UMLS:C4024439		Irregular end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009326	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	biolink:PhenotypicFeature	hp	UMLS:C4024438		Increased bone density of end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009327	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	biolink:PhenotypicFeature	hp	UMLS:C4021491		Pseudoepiphyses of middle phalanx of middle-finger	http://purl.obolibrary.org/obo/HP_0009328	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	biolink:PhenotypicFeature	hp	UMLS:C4024437		Small end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009329	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	biolink:PhenotypicFeature	hp	UMLS:C4024436		Speckled calcifications in end part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009330	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	biolink:PhenotypicFeature	hp	UMLS:C4021490		Triangular end part of the middle bone of the middle finger|Delta-shaped epiphysis of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009331	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	biolink:PhenotypicFeature	hp	UMLS:C4024435		Abnormality of the end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009332	
HP:0009333	Abnormality of the epiphysis of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024434		Abnormality of the end part of the innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009333	
HP:0009334	Abnormality of the epiphysis of the middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024433		Abnormality of the middle part of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009334	
HP:0009335	Absent epiphysis of the distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024432		Absent end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009335	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	biolink:PhenotypicFeature	hp	UMLS:C4024431		Bracket shaped end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009336	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	biolink:PhenotypicFeature	hp	UMLS:C4024430		Cone-shaped end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009337	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	biolink:PhenotypicFeature	hp	UMLS:C4024429		Enlarged end part of the outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009338	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	biolink:PhenotypicFeature	hp	UMLS:C4024428		Fragmentation of end part of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009339	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	biolink:PhenotypicFeature	hp	UMLS:C4024427		Irregular end part of the outermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009340	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	biolink:PhenotypicFeature	hp	UMLS:C4024426		Increased bone density of end part of the outermost middle finger bone	http://purl.obolibrary.org/obo/HP_0009341	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	biolink:PhenotypicFeature	hp	UMLS:C4024425		Pseudoepiphysis of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009342	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	biolink:PhenotypicFeature	hp	UMLS:C4024424		Small end part of the outermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009343	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	biolink:PhenotypicFeature	hp	UMLS:C4024423		Speckled calcifications in end part of the outermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009344	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	biolink:PhenotypicFeature	hp	UMLS:C4021489		Triangular end part of the outermost long bone of the middle finger|Delta-shaped epiphysis of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009345	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	biolink:PhenotypicFeature	hp	UMLS:C4024422		Absent end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009346	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	biolink:PhenotypicFeature	hp	UMLS:C4024421		Bracket shaped end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009347	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	biolink:PhenotypicFeature	hp	UMLS:C4024420		Cone-shaped end part of the innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009348	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	biolink:PhenotypicFeature	hp	UMLS:C4021488		Enlarged end part of innermost long bone of the middle finger|Large epiphysis of proximal middle-finger phalanx	http://purl.obolibrary.org/obo/HP_0009349	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	biolink:PhenotypicFeature	hp	UMLS:C4024419		Fragmentation of end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009350	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	biolink:PhenotypicFeature	hp	UMLS:C4024418		Irregular end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009351	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	biolink:PhenotypicFeature	hp	UMLS:C4024417		Increased bone density of end part of the innermost middle finger bone	http://purl.obolibrary.org/obo/HP_0009352	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	biolink:PhenotypicFeature	hp	UMLS:C4024416			http://purl.obolibrary.org/obo/HP_0009353	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	biolink:PhenotypicFeature	hp	UMLS:C4024415		Small end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009354	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	biolink:PhenotypicFeature	hp	UMLS:C4024414		Speckled calcifications in end part of innermost long bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009355	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	biolink:PhenotypicFeature	hp	UMLS:C4021487		Triangular end part of innermost long bone of the middle finger|Delta-shaped epiphysis of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009356	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	biolink:PhenotypicFeature	hp	UMLS:C4021486		Abnormality of the outermost bone of the 3rd finger|Abnormality of terminal phalanx of middle-finger	http://purl.obolibrary.org/obo/HP_0009357	
HP:0009358	Abnormality of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021485		Abnormal innermost bone of middle finger|Abnormality of proximal middle-finger phalanx	http://purl.obolibrary.org/obo/HP_0009358	
HP:0009370	Type A brachydactyly	biolink:PhenotypicFeature	hp	UMLS:C4024413			http://purl.obolibrary.org/obo/HP_0009370	
HP:0009371	Type A1 brachydactyly	biolink:PhenotypicFeature	hp	MSH:C537088|SNOMEDCT_US:715720006|UMLS:C1862151			http://purl.obolibrary.org/obo/HP_0009371	
HP:0009372	Type A2 brachydactyly	biolink:PhenotypicFeature	hp	MSH:C537089|UMLS:C1832702		Short index fingers and second toes	http://purl.obolibrary.org/obo/HP_0009372	
HP:0009373	Type C brachydactyly	biolink:PhenotypicFeature	hp	MSH:C537093|UMLS:C1862103			http://purl.obolibrary.org/obo/HP_0009373	
HP:0009374	Broad phalanges of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024412		Broad little finger bones|Broad pinkie finger bones|Broad pinky finger bones	http://purl.obolibrary.org/obo/HP_0009374	Increased width of the phalanges of the 5th finger.
HP:0009375	Bullet-shaped phalanges of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024411		Bullet-shaped little finger bones|Bullet-shaped pinkie finger bones|Bullet-shaped pinky finger bones	http://purl.obolibrary.org/obo/HP_0009375	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	biolink:PhenotypicFeature	hp	UMLS:C4024410		Absent/small little finger bones|Absent/small pinkie finger bones|Absent/small pinky finger bones|Absent/underdeveloped pinky finger bones	http://purl.obolibrary.org/obo/HP_0009376	Aplasia/Hypoplasia of the phalanges of the 5th finger.
HP:0009377	Patchy sclerosis of 5th finger phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021484		Uneven increase in bone density in little finger bone|Uneven increase in bone density in pinkie finger bone|Uneven increase in bone density in pinky finger bone|Patchy sclerosis of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009377	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	biolink:PhenotypicFeature	hp	UMLS:C4024409		Triangular shaped little finger bones|Triangular shaped pinkie finger bones|Triangular shaped pinky finger bones	http://purl.obolibrary.org/obo/HP_0009378	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	biolink:PhenotypicFeature	hp	UMLS:C4024408		Rhomboid or triangular shaped little finger bone|Rhomboid or triangular shaped pinkie finger bone|Rhomboid or triangular shaped pinky finger bone	http://purl.obolibrary.org/obo/HP_0009379	Rhomboid or triangular shaped 5th (little) finger distal phalanx.
HP:0009380	Aplasia of the fingers	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71358006|UMLS:C0728895		Absent fingers	http://purl.obolibrary.org/obo/HP_0009380	Aplasia of one or more fingers.
HP:0009381	Short finger	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249765007|UMLS:C0239594|UMLS:C1844548	hposlim_core	Short finger|Stubby finger|Stubby fingers|Hypoplastic digits|Hypoplastic fingers|Hypoplastic/small fingers	http://purl.obolibrary.org/obo/HP_0009381	Abnormally short finger associated with developmental hypoplasia.
HP:0009382	Absent epiphyses of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024407		Absent end part of little finger bone|Absent end part of pinkie finger bone|Absent end part of pinky finger bone	http://purl.obolibrary.org/obo/HP_0009382	Absence of one or more epiphyses of the 5th finger.
HP:0009383	Bracket epiphyses of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024406		Bracket shaped end part of little finger bone|Bracket shaped end part of pinkie finger bone|Bracket shaped end part of pinky finger bone	http://purl.obolibrary.org/obo/HP_0009383	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	biolink:PhenotypicFeature	hp	UMLS:C4024405		Cone-shaped end part of the little finger bones|Cone-shaped end part of the pinkie finger bones|Cone-shaped end part of the pinky finger bones	http://purl.obolibrary.org/obo/HP_0009384	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	biolink:PhenotypicFeature	hp	UMLS:C4024404		Enlarged end part of the little finger bones|Enlarged end part of the pinkie finger bones|Enlarged end part of the pinky finger bones	http://purl.obolibrary.org/obo/HP_0009385	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	biolink:PhenotypicFeature	hp	UMLS:C4024403		Fragmentation of the end part of the little finger bones|Fragmentation of the end part of the pinkie finger bones|Fragmentation of the end part of the pinky finger bones	http://purl.obolibrary.org/obo/HP_0009386	Fragmented appearance of the epiphyses of the 5th finger.
HP:0009387	Irregular epiphyses of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024402		Irregular end part of the little finger bones|Irregular end part of the pinkie finger bones|Irregular end part of the pinky finger bones	http://purl.obolibrary.org/obo/HP_0009387	Irregular radiographic opacity of the epiphyses of the 5th finger.
HP:0009388	Ivory epiphyses of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024401		Increased bone density of end part of the little finger|Increased bone density of end part of the pinkie finger|Increased bone density of end part of the pinky finger	http://purl.obolibrary.org/obo/HP_0009388	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	biolink:PhenotypicFeature	hp	UMLS:C4024400			http://purl.obolibrary.org/obo/HP_0009389	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	biolink:PhenotypicFeature	hp	UMLS:C4024399		Small end part of little finger bone|Small end part of pinkie finger bone|Small end part of pinky finger bone	http://purl.obolibrary.org/obo/HP_0009390	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	biolink:PhenotypicFeature	hp	UMLS:C4024398		Speckled calcifications in end part of little finger bone|Speckled calcifications in end part of pinkie finger bone|Speckled calcifications in end part of pinky finger bone	http://purl.obolibrary.org/obo/HP_0009391	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.
HP:0009392	Triangular epiphyses of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021483		Triangular end part of the little finger|Triangular end part of the pinkie finger|Triangular end part of the pinky finger|Delta-shaped epiphyses of the 5th finger	http://purl.obolibrary.org/obo/HP_0009392	A triangular appearance of the epiphyses of the 5th finger of the hand.
HP:0009393	Absent epiphyses of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024397		Absent end part of the ring finger bone	http://purl.obolibrary.org/obo/HP_0009393	Absence of one or more epiphyses of the 4th finger.
HP:0009394	Bracket epiphyses of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024396		Bracket shaped end part of ring finger bones	http://purl.obolibrary.org/obo/HP_0009394	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	biolink:PhenotypicFeature	hp	UMLS:C4024395		Cone-shaped end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009395	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	biolink:PhenotypicFeature	hp	UMLS:C4024394		Enlarged end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009396	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	biolink:PhenotypicFeature	hp	UMLS:C4024393		Fragmentation of the end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009397	Fragmented appearance of the epiphyses of the 4th finger.
HP:0009398	Irregular epiphyses of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024392		Irregular end part of the ring finger bones	http://purl.obolibrary.org/obo/HP_0009398	Irregular radiographic opacity of the epiphyses of the 4th finger.
HP:0009399	Ivory epiphyses of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024391		Increased bone density of end part of the ring finger bone	http://purl.obolibrary.org/obo/HP_0009399	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	biolink:PhenotypicFeature	hp	UMLS:C4024390			http://purl.obolibrary.org/obo/HP_0009400	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	biolink:PhenotypicFeature	hp	UMLS:C4024389		Small end part of ring finger bone	http://purl.obolibrary.org/obo/HP_0009401	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	biolink:PhenotypicFeature	hp	UMLS:C4024388		Speckled calcifications in end part of ring finger bone	http://purl.obolibrary.org/obo/HP_0009402	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.
HP:0009403	Triangular epiphyses of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021482		Triangular end part of ring finger bone|Delta-shaped epiphyses of the 4th finger	http://purl.obolibrary.org/obo/HP_0009403	A triangular appearance of the epiphyses of the 4th finger of the hand.
HP:0009404	Broad phalanges of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024387		Broad bones of ring finger	http://purl.obolibrary.org/obo/HP_0009404	Increased width of the phalanges of the 4th finger.
HP:0009405	Bullet-shaped phalanges of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024386		Bullet-shaped of bone of ring finger	http://purl.obolibrary.org/obo/HP_0009405	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	biolink:PhenotypicFeature	hp	UMLS:C4021481		Uneven increase in bone density in ring finger bone|Patchy sclerosis of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009406	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	biolink:PhenotypicFeature	hp	UMLS:C4024385		Triangular shaped bone of ring finger	http://purl.obolibrary.org/obo/HP_0009407	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	biolink:PhenotypicFeature	hp	UMLS:C4024384		Absent/small ring finger bones|Absent/underdeveloped ring finger bones	http://purl.obolibrary.org/obo/HP_0009408	
HP:0009410	Absent epiphyses of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024383		Absent end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009410	Absence of the epiphyses of the 3rd finger.
HP:0009411	Bracket epiphyses of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024382		Bracket shaped end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009411	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	biolink:PhenotypicFeature	hp	UMLS:C4024381		Cone-shaped end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009412	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	biolink:PhenotypicFeature	hp	UMLS:C4024380		Enlarged end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009413	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	biolink:PhenotypicFeature	hp	UMLS:C4024379		Fragmentation of end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009414	Fragmented appearance of the epiphyses of the 3rd finger.
HP:0009415	Irregular epiphyses of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024378		Irregular end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009415	Irregular radiographic opacity of the epiphyses of the 3rd finger.
HP:0009416	Ivory epiphyses of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024377		Increased bone density of end part of the middle finger bone	http://purl.obolibrary.org/obo/HP_0009416	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	biolink:PhenotypicFeature	hp	UMLS:C4021480		Pseudoepiphyses of middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009417	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	biolink:PhenotypicFeature	hp	UMLS:C4024376		Small end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009418	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	biolink:PhenotypicFeature	hp	UMLS:C4024375		Speckled calcifications in end part of middle finger bone	http://purl.obolibrary.org/obo/HP_0009419	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.
HP:0009420	Triangular epiphyses of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021479		Triangular end part of middle finger bone|Delta-shaped epiphyses of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009420	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	biolink:PhenotypicFeature	hp	UMLS:C4024374		Absent/small outermost middle finger bone|Absent/underdeveloped outermost middle finger bone	http://purl.obolibrary.org/obo/HP_0009421	
HP:0009422	Broad distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024373		Broad outermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009422	Increased width of the distal phalanx of the 3rd finger.
HP:0009423	Bullet-shaped distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024372		Bullet-shaped outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009423	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	biolink:PhenotypicFeature	hp	UMLS:C4021478		Lytic defect of terminal phalanx of middle finger	http://purl.obolibrary.org/obo/HP_0009424	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	biolink:PhenotypicFeature	hp	UMLS:C4024371		Uneven increase in bone density in the outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009425	Uneven (irregular) increase in bone density of the distal phalanx of the third finger.
HP:0009426	Distal/middle symphalangism of 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021477		Fused outermost and middle bones of middle finger|Symphalangism of the distal and middle phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009426	Fusion of the terminal/distal and middle phalanges of the 3rd finger.
HP:0009427	Triangular shaped distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024370		Triangular shaped outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009427	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	biolink:PhenotypicFeature	hp	UMLS:C4024369		Curved outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009428	Curved appearance of the distal phalanx of the 3rd finger.
HP:0009429	Aplasia of the distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024368		Absent of the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009429	Absence of the distal phalanx of the middle (3rd) finger.
HP:0009430	Broad middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021476		Broad middle bone of middle finger|Wide/broad middle phalanx of middle-finger	http://purl.obolibrary.org/obo/HP_0009430	Increased width of the middle phalanx of the 3rd finger.
HP:0009431	Bullet-shaped middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024367		Bullet-shaped middle bone of middle finger	http://purl.obolibrary.org/obo/HP_0009431	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	biolink:PhenotypicFeature	hp	UMLS:C4024366		Curved middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009432	Curved appearance of the middle phalanx of the 3rd (middle) finger.
HP:0009433	Osteolytic defects of the middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024365			http://purl.obolibrary.org/obo/HP_0009433	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	biolink:PhenotypicFeature	hp	UMLS:C4024364		Uneven increase in bone density in the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009434	Uneven (irregular) increase in bone density of the middle phalanx of the third finger.
HP:0009435	Symphalangism of middle phalanx of 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024363		Fused middle bone of middle finger	http://purl.obolibrary.org/obo/HP_0009435	Fusion of the middle phalanx of the 3rd finger with another bone.
HP:0009436	Triangular shaped middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024362		Triangular shaped middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009436	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	biolink:PhenotypicFeature	hp	UMLS:C4024361		Absent/small middle bone of the middle finger|Absent/underdeveloped middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009437	
HP:0009438	Absent middle phalanx of 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021475		Absent middle bone of middle finger|Absent middle phalanx of middle finger|Aplasia of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009438	Absence of the middle phalanx of the middle (3rd) finger.
HP:0009439	Short middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021474		Short middle bone of middle finger|Hypoplastic/small middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009439	Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.
HP:0009440	Broad phalanges of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021473		Wide bones of middle finger|Wide/broad middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009440	Increased width of the phalanges of the 3rd finger.
HP:0009441	Bullet-shaped phalanges of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024360		Bullet-shaped bones of middle finger	http://purl.obolibrary.org/obo/HP_0009441	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	biolink:PhenotypicFeature	hp	UMLS:C4024359		Curved bones of middle finger	http://purl.obolibrary.org/obo/HP_0009442	Curved appearance of the phalanges of the 3rd finger.
HP:0009443	Osteolytic defects of the phalanges of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021472		Lytic defects of middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009443	Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.
HP:0009444	Patchy sclerosis of 3rd finger phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021471		Uneven increase in bone density in middle finger bone|Patchy sclerosis of middle finger phalanges|Patchy sclerosis of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009444	Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.
HP:0009445	Symphalangism of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024358		Fused middle finger	http://purl.obolibrary.org/obo/HP_0009445	Fusion of two or more bones of the 3rd finger.
HP:0009446	Triangular shaped phalanges of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024357		Triangular shaped bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009446	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	biolink:PhenotypicFeature	hp	UMLS:C4024356		Absent/small middle finger bone|Absent/underdeveloped middle finger bone|Hypoplastic middle finger phalanges|Short middle finger phalanges|Small middle finger phalanges	http://purl.obolibrary.org/obo/HP_0009447	
HP:0009448	obsolete Aplasia of the phalanges of the 3rd finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009448	
HP:0009449	obsolete Hypoplastic/small phalanges of the 3rd finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009449	
HP:0009450	Broad proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024355		Broad innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009450	Increased width of the proximal phalanx of the 3rd finger.
HP:0009451	Bullet-shaped proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024354		Bullet-shaped innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009451	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	biolink:PhenotypicFeature	hp	UMLS:C4024353		Curved innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009452	Curved appearance of the proximal phalanx of the 3rd finger.
HP:0009453	Osteolytic defects of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024352			http://purl.obolibrary.org/obo/HP_0009453	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	biolink:PhenotypicFeature	hp	UMLS:C4024351		Uneven increase in bone density in the innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009454	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	biolink:PhenotypicFeature	hp	UMLS:C4024350		Fused innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009455	Fusion of the proximal phalanx of the 3rd finger with another bone.
HP:0009456	Triangular shaped proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024349		Triangular shaped innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009456	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	biolink:PhenotypicFeature	hp	UMLS:C4024348		Absent/small innermost bone of middle finger|Absent/underdeveloped innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009457	
HP:0009458	Aplasia of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024347		Absent innermost bone of middle finger	http://purl.obolibrary.org/obo/HP_0009458	Absence of the proximal phalanx of the 3rd finger.
HP:0009459	Short proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021470		Short innermost bone of middle finger|Hypoplastic/small proximal phalanx of the 3rd finger|Short proximal middle-finger phalanx|Short proximal phalanx of the third finger|Small proximal middle-finger phalanx	http://purl.obolibrary.org/obo/HP_0009459	Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.
HP:0009460	Aplasia of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024346		Absent middle finger	http://purl.obolibrary.org/obo/HP_0009460	Absent 3rd finger.
HP:0009461	Short 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021469		Short 3rd finger|Short middle finger|Hypoplastic/small 3rd finger	http://purl.obolibrary.org/obo/HP_0009461	Hypoplastic/small 3rd (middle) finger.
HP:0009462	Radial deviation of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024345		Inward turned middle finger	http://purl.obolibrary.org/obo/HP_0009462	Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).
HP:0009463	Ulnar deviation of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C3554614		Ulnar deviation of middle fingers	http://purl.obolibrary.org/obo/HP_0009463	Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).
HP:0009464	Ulnar deviation of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C1844891		Medially deviated index finger|Second finger ulnar deviation|Ulnar angulation of the index finger|Ulnar deviation of index fingers	http://purl.obolibrary.org/obo/HP_0009464	Displacement of the 2nd (index) finger towards the ulnar side.
HP:0009465	Ulnar deviation of finger	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276662009|SNOMEDCT_US:367510009|UMLS:C0231679	hposlim_core	Finger bends toward pinky|Ulnar Drift	http://purl.obolibrary.org/obo/HP_0009465	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	biolink:PhenotypicFeature	hp	UMLS:C1836189	hposlim_core	Radially deviated fingers|Radially deviated phalanges	http://purl.obolibrary.org/obo/HP_0009466	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	biolink:PhenotypicFeature	hp	UMLS:C1844709		Radially deviated index finger	http://purl.obolibrary.org/obo/HP_0009467	Displacement of the 2nd finger towards the radial side.
HP:0009468	Deviation of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021468		Displaced index finger|Deviated index finger	http://purl.obolibrary.org/obo/HP_0009468	Displacement of the 2nd finger from its normal position.
HP:0009469	Contracture of the distal interphalangeal joint of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024344		Contracture of the outermost hinge joint of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009469	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	biolink:PhenotypicFeature	hp	UMLS:C4024343			http://purl.obolibrary.org/obo/HP_0009470	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	biolink:PhenotypicFeature	hp	UMLS:C4021467		Camptodactyly of the 3rd finger|Camptodactyly of the third finger	http://purl.obolibrary.org/obo/HP_0009471	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	biolink:PhenotypicFeature	hp	MEDDRA:10010821|SNOMEDCT_US:86414002|UMLS:C0158113	hposlim_core	Contractures involving the hands|Contractures of the hands	http://purl.obolibrary.org/obo/HP_0009473	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	biolink:PhenotypicFeature	hp	UMLS:C4024342		Fused innermost and middle bone of fourth finger	http://purl.obolibrary.org/obo/HP_0009477	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	biolink:PhenotypicFeature	hp	UMLS:C4024341		Fused innermost bone of ring finger with 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0009478	Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.
HP:0009482	Proximal/middle symphalangism of 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024340		Fused of innermost and middle bones of middle finger	http://purl.obolibrary.org/obo/HP_0009482	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	biolink:PhenotypicFeature	hp	UMLS:C4024339		Fused innermost bones of middle finger with middle long bone of hand	http://purl.obolibrary.org/obo/HP_0009483	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	biolink:PhenotypicFeature	hp	UMLS:C4024338		Displaced hand or fingers of the hand	http://purl.obolibrary.org/obo/HP_0009484	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	biolink:PhenotypicFeature	hp	UMLS:C4024337			http://purl.obolibrary.org/obo/HP_0009485	
HP:0009486	Radial deviation of the hand	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299035006|UMLS:C0575803	hposlim_core	Radial deviation of hands	http://purl.obolibrary.org/obo/HP_0009486	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249757009|UMLS:C0241521	hposlim_core	Ulnar deviation of hands|Ulnar deviation of the hands	http://purl.obolibrary.org/obo/HP_0009487	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	biolink:PhenotypicFeature	hp	UMLS:C4024336		Absent end part of index finger	http://purl.obolibrary.org/obo/HP_0009488	Absence of the epiphyses of the 2nd finger.
HP:0009489	Bracket epiphyses of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021466		Bracket shaped end part of index finger|Bracket-epiphyses of index finger	http://purl.obolibrary.org/obo/HP_0009489	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	biolink:PhenotypicFeature	hp	UMLS:C4024335		Cone-shaped end part of the index finger	http://purl.obolibrary.org/obo/HP_0009490	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	biolink:PhenotypicFeature	hp	UMLS:C4024334		Enlarged end part of the index finger	http://purl.obolibrary.org/obo/HP_0009491	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	biolink:PhenotypicFeature	hp	UMLS:C4024333		Fragmentation of end part of the index finger	http://purl.obolibrary.org/obo/HP_0009492	Fragmented appearance of the epiphyses of the 2nd finger.
HP:0009493	Irregular epiphyses of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024332		Irregular end part of the index finger	http://purl.obolibrary.org/obo/HP_0009493	Irregular radiographic opacity of the epiphyses of the 2nd finger.
HP:0009494	Ivory epiphyses of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024331		Increased bone density of end part of the index finger bone	http://purl.obolibrary.org/obo/HP_0009494	Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0009495	Pseudoepiphyses of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021465		Accessory index finger phalanges	http://purl.obolibrary.org/obo/HP_0009495	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	biolink:PhenotypicFeature	hp	UMLS:C4024330		Small end part of the index finger	http://purl.obolibrary.org/obo/HP_0009496	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	biolink:PhenotypicFeature	hp	UMLS:C4024329		Speckled calcifications in end part of the index finger	http://purl.obolibrary.org/obo/HP_0009497	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.
HP:0009498	Triangular epiphyses of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024328		Triangular end part of the index finger	http://purl.obolibrary.org/obo/HP_0009498	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	biolink:PhenotypicFeature	hp	UMLS:C4021464		Abnormality of the end part of the outermost bone of the index finger|Epiphyseal abnormality of terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009499	
HP:0009500	Abnormality of the epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021463		Abnormality of end part of the middle bone of the index finger|Epiphyseal abnormality of middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009500	
HP:0009501	Abnormality of the epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021462		Epiphyseal abnormality of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009501	
HP:0009502	Absent epiphysis of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021461		Absent end part of the outermost bone of the index finger|Absent ossification/absent epiphysis of terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009502	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	biolink:PhenotypicFeature	hp	UMLS:C4024327		Bracket shaped end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009503	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	biolink:PhenotypicFeature	hp	UMLS:C4024326		Cone-shaped end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009504	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	biolink:PhenotypicFeature	hp	UMLS:C4024325		Enlarged end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009505	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	biolink:PhenotypicFeature	hp	UMLS:C4024324		Fragmentation of end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009506	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	biolink:PhenotypicFeature	hp	UMLS:C4024323		Irregular end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009507	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	biolink:PhenotypicFeature	hp	UMLS:C4021460		Increased bone density of end part of the outermost bone of the index finger|Ivory epiphysis of terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009508	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	biolink:PhenotypicFeature	hp	UMLS:C4024322			http://purl.obolibrary.org/obo/HP_0009509	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	biolink:PhenotypicFeature	hp	UMLS:C4024321		Small end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009510	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	biolink:PhenotypicFeature	hp	UMLS:C4024320		Speckled calcifications in end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009511	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	biolink:PhenotypicFeature	hp	UMLS:C4024319		Triangular end part of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009512	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	biolink:PhenotypicFeature	hp	UMLS:C4021459		Missing end part of the middle long bone of the index finger|Absent epiphyses of middle phalanx of index finger	http://purl.obolibrary.org/obo/HP_0009513	
HP:0009514	Bracket epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024318		Bracket shaped end part of the middle long bone of the index finger	http://purl.obolibrary.org/obo/HP_0009514	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	biolink:PhenotypicFeature	hp	UMLS:C4021458		Cone-shaped end part of the middle long bone of the index finger|Cone-shaped epiphyses of middle phalanx of index finger	http://purl.obolibrary.org/obo/HP_0009515	
HP:0009516	Enlarged epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024317		Enlarged end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009516	
HP:0009517	Fragmentation of the epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024316		Fragmentation of end part of the middle long bone of the index finger	http://purl.obolibrary.org/obo/HP_0009517	
HP:0009518	Irregular epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024315		Irregular end part of the middle long bone of the index finger	http://purl.obolibrary.org/obo/HP_0009518	
HP:0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024314		Increased bone density of end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009519	
HP:0009520	Pseudoepiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024313			http://purl.obolibrary.org/obo/HP_0009520	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	biolink:PhenotypicFeature	hp	UMLS:C4024312		Small end part of the innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009521	
HP:0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024311		Speckled calcifications in end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009522	
HP:0009523	Triangular epiphysis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024310		Triangular end part of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009523	
HP:0009524	Absent epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024309		Absent end part of innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009524	
HP:0009525	Bracket epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021457		Bracket shaped end part of innermost long bone of index finger|Bracket epiphyses of proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009525	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	biolink:PhenotypicFeature	hp	UMLS:C4021456		Cone-shaped end part of innermost long bone of index finger|Cone-shaped epiphysis of proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009526	
HP:0009527	Enlarged epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021455		Enlarged end part of innermost long bone of index finger|Large epiphysis of proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009527	
HP:0009528	Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024308		Fragmentation of end part of innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009528	
HP:0009529	Irregular epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024307		Irregular end part of innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009529	
HP:0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024306		Increased bone density of end part of the innermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009530	
HP:0009531	Pseudoepiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024305			http://purl.obolibrary.org/obo/HP_0009531	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	biolink:PhenotypicFeature	hp	UMLS:C4024304		Small end part of proximal long bond of index finger	http://purl.obolibrary.org/obo/HP_0009532	
HP:0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024303		Speckled calcifications in end part of the innermost long bone of index finger	http://purl.obolibrary.org/obo/HP_0009533	
HP:0009534	Triangular epiphysis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021454		Triangular end part of innermost long bone of index finger|Triangular epiphysis of proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009534	
HP:0009535	Aplasia of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021453		Absent index finger|Absent index finger phalanges|Aplasia of the index finger	http://purl.obolibrary.org/obo/HP_0009535	Absent 2nd (index) finger.
HP:0009536	Short 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C1862142		Short index finger|Short index fingers|Hypoplastic index finger phalanges|Hypoplastic/small index finger|Short index finger phalanges	http://purl.obolibrary.org/obo/HP_0009536	Hypoplasia of the second finger, also known as the index finger.
HP:0009537	Flexion contracture of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021452		Joint contractures of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009537	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	biolink:PhenotypicFeature	hp	UMLS:C4024302			http://purl.obolibrary.org/obo/HP_0009538	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	biolink:PhenotypicFeature	hp	UMLS:C4024301			http://purl.obolibrary.org/obo/HP_0009539	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	biolink:PhenotypicFeature	hp	UMLS:C4021451		Camptodactyly of 2nd finger|Camptodactyly of index finger|Camptodactyly of second finger	http://purl.obolibrary.org/obo/HP_0009540	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	biolink:PhenotypicFeature	hp	UMLS:C4021450		Abnormal index finger bones|Abnormality of 2nd finger phalanges	http://purl.obolibrary.org/obo/HP_0009541	Abnormality of the phalanges of the 2nd (index) finger.
HP:0009542	Abnormality of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021449		Abnormality of the outermost bone of the 2nd finger|Abnormality of terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009542	
HP:0009543	Abnormality of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021448		Abnormal middle index finger bone|Abnormality of middle 2nd finger phalanx	http://purl.obolibrary.org/obo/HP_0009543	
HP:0009544	Abnormality of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021447		Abnormal innermost index finger bone|Abnormality of the proximal 2nd finger phalanx	http://purl.obolibrary.org/obo/HP_0009544	
HP:0009545	Symphalangism of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021446		Fused index finger bones|Symphalangism of index finger phalanges	http://purl.obolibrary.org/obo/HP_0009545	
HP:0009546	Triangular shaped phalanges of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021445		Triangular bones of index finger|Triangular index finger phalanges	http://purl.obolibrary.org/obo/HP_0009546	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	biolink:PhenotypicFeature	hp	UMLS:C4021444		Wide index finger bones|Wide/broad index finger phalanges	http://purl.obolibrary.org/obo/HP_0009547	
HP:0009548	Bullet-shaped phalanges of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024300		Bullet-shaped index finger bones	http://purl.obolibrary.org/obo/HP_0009548	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	biolink:PhenotypicFeature	hp	UMLS:C4024299		Curved index finger bones	http://purl.obolibrary.org/obo/HP_0009549	
HP:0009550	Osteolytic defects of the phalanges of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021443		Lytic defect in index finger phalanges	http://purl.obolibrary.org/obo/HP_0009550	
HP:0009551	Patchy sclerosis of 2nd finger phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021442		Uneven increase in bone density in index finger bone|Patchy sclerosis of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009551	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	biolink:PhenotypicFeature	hp	UMLS:C4024298		Absent/small index finger bone|Absent/underdeveloped index finger bone	http://purl.obolibrary.org/obo/HP_0009552	
HP:0009553	Abnormality of the hairline	biolink:PhenotypicFeature	hp	UMLS:C4024297		Abnormality of the hairline	http://purl.obolibrary.org/obo/HP_0009553	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	biolink:PhenotypicFeature	hp	UMLS:C4024296		Hair growing down to cheek|Projection of scalp hair onto lateral cheek|Hair displacement, preauricular, towards lateral cheekbone	http://purl.obolibrary.org/obo/HP_0009554	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	biolink:PhenotypicFeature	hp	UMLS:C4024295|UMLS:C4280396|UMLS:C4280397|UMLS:C4280398|UMLS:C4280399|UMLS:C4280400		Small pharynx|Decreased size of pharynx|Underdevelopment of pharynx|Decreased diameter of pharynx|Decreased length of pharynx|Decreased volume of pharynx|Decreased width of pharynx|Hypotrophic pharynx	http://purl.obolibrary.org/obo/HP_0009555	Underdevelopment of the pharynx.
HP:0009556	Absent tibia	biolink:PhenotypicFeature	hp	UMLS:C3276744	hposlim_core	Absent shankbone|Absent shinbone|Aplasia of the tibia	http://purl.obolibrary.org/obo/HP_0009556	Absence of the tibia.
HP:0009557	Aplasia/Hypoplasia of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024294		Absent/small outermost index finger bone|Absent/underdeveloped outermost index finger bone	http://purl.obolibrary.org/obo/HP_0009557	
HP:0009558	Broad distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024293		Wide outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009558	Increased width of the distal phalanx of the 2nd finger.
HP:0009559	Bullet-shaped distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024292		Bullet-shaped outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009559	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	biolink:PhenotypicFeature	hp	UMLS:C4024291		Curved outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009560	Curved appearance of the distal phalanx of the 2nd finger.
HP:0009561	Osteolytic defects of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021441		Acro-osteolysis of index finger|Acro-osteolysis of terminal index finger phalanx|Osteolytic defects of the outermost bone of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009561	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	biolink:PhenotypicFeature	hp	UMLS:C4024290		Uneven increase in bone density in the outermost bone of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009562	Uneven (irregular) increase in bone density of the distal phalanx of the second finger.
HP:0009563	Distal/middle symphalangism of 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021440		Fused outermost and middle index finger bones|Symphalangism of the distal and middle phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009563	Fusion of the terminal/distal and middle phalanges of the 2nd finger.
HP:0009564	Triangular shaped distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024289		Triangular shaped outermost bone of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009564	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	biolink:PhenotypicFeature	hp	UMLS:C4021439		Absent outermost index finger bone|Absent terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009565	
HP:0009566	Short distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021438		Short outermost bone of the index finger|Hypoplastic terminal index finger phalanx|Hypoplastic/small distal phalanx of the 2nd finger|Short distal phalanx of the second finger|Short terminal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009566	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	biolink:PhenotypicFeature	hp	UMLS:C1862144		Absent/small middle index finger bone|Absent/underdeveloped middle index finger bone|Absent/hypoplastic middle phalanx of 2nd finger|Hypoplastic/aplastic middle phalanx of index finger	http://purl.obolibrary.org/obo/HP_0009568	
HP:0009569	Broad middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024288		Broad middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009569	Increased width of the middle phalanx of the second finger.
HP:0009570	Bullet-shaped middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024287		Bullet-shaped middle bone of index finger	http://purl.obolibrary.org/obo/HP_0009570	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	biolink:PhenotypicFeature	hp	UMLS:C4024286		Curved middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009571	Curved appearance of the middle phalanx of the 2nd finger.
HP:0009572	Osteolytic defects of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021437		Lytic defects of middle index finger phalanx	http://purl.obolibrary.org/obo/HP_0009572	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	biolink:PhenotypicFeature	hp	UMLS:C4024285		Uneven increase in bone density in the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009573	Uneven (irregular) increase in bone density of the middle phalanx of the second finger.
HP:0009574	Symphalangism of middle phalanx of 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024284		Fused middle bone of index finger	http://purl.obolibrary.org/obo/HP_0009574	Fusion of the middle phalanx of the 2nd finger with another bone.
HP:0009575	Triangular shaped middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024283		Triangular shaped middle bone of index finger	http://purl.obolibrary.org/obo/HP_0009575	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	biolink:PhenotypicFeature	hp	UMLS:C4021436		Absent middle bone of index finger|Absent middle phalanx of index finger|Aplasia of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009576	Absence of the middle phalanx of the index (2nd) finger.
HP:0009577	Short middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021435		Short middle bone of index finger|Hypoplastic middle index finger phalanx|Hypoplastic/small middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009577	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	biolink:PhenotypicFeature	hp	UMLS:C4024282		Fused innermost and middle index finger bones	http://purl.obolibrary.org/obo/HP_0009579	Fusion of the proximal and middle phalanges of the 2nd finger.
HP:0009580	Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024281		Absent/small innermost index finger bone|Absent/underdeveloped innermost index finger bone	http://purl.obolibrary.org/obo/HP_0009580	
HP:0009581	Broad proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021434		Wide innermost bone of index finger|Wide/broad proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009581	Increased width of the proximal phalanx of the 2nd finger.
HP:0009582	Bullet-shaped proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024280		Bullet-shaped innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009582	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	biolink:PhenotypicFeature	hp	UMLS:C4024279		Curved innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009583	Curved appearance of the proximal phalanx of the 2nd finger.
HP:0009584	Osteolytic defects of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021433		Lytic defects of proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009584	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	biolink:PhenotypicFeature	hp	UMLS:C4024278		Uneven increase in bone density in innermost index finger bone	http://purl.obolibrary.org/obo/HP_0009585	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	biolink:PhenotypicFeature	hp	UMLS:C4024277		Fused innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009586	Fusion of the proximal phalanx of the 2nd finger with another bone.
HP:0009587	Triangular shaped proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021432		Triangular shaped innermost bone of index finger|Triangular proximal index finger phalanx	http://purl.obolibrary.org/obo/HP_0009587	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	biolink:PhenotypicFeature	hp	MSH:D009464|NCIT:C3269|SNOMEDCT_US:126949007|SNOMEDCT_US:985004|UMLS:C0027859	hposlim_core	Acoustic Neuroma|Vestibular Schwann cell tumor|Vestibular neurilemmoma|Vestibular neurinoma|Vestibular neurolemmoma	http://purl.obolibrary.org/obo/HP_0009588	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	biolink:PhenotypicFeature	hp	MSH:D016518|UMLS:C1136042		Bilateral acoustic neuromas	http://purl.obolibrary.org/obo/HP_0009589	A bilateral vestibular Schwannoma (acoustic neurinoma).
HP:0009590	Unilateral vestibular Schwannoma	biolink:PhenotypicFeature	hp	UMLS:C1863653			http://purl.obolibrary.org/obo/HP_0009590	A unilateral vestibular Schwannoma (acoustic neurinoma).
HP:0009591	Abnormality of the vestibulocochlear nerve	biolink:PhenotypicFeature	hp	UMLS:C4021431		Abnormality of the VIIIth cranial nerve|Abnormality of the eighth cranial nerve	http://purl.obolibrary.org/obo/HP_0009591	Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.
HP:0009592	Astrocytoma	biolink:PhenotypicFeature	hp	MSH:D001254|SNOMEDCT_US:38713004|UMLS:C0004114			http://purl.obolibrary.org/obo/HP_0009592	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	biolink:PhenotypicFeature	hp	UMLS:C4024276			http://purl.obolibrary.org/obo/HP_0009593	The presence of a peripheral schwannoma.
HP:0009594	Retinal hamartoma	biolink:PhenotypicFeature	hp	UMLS:C1863411			http://purl.obolibrary.org/obo/HP_0009594	A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
HP:0009595	Occasional neurofibromas	biolink:PhenotypicFeature	hp	UMLS:C3810474			http://purl.obolibrary.org/obo/HP_0009595	Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
HP:0009596	Aplasia of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024275		Absent innermost bone of index finger	http://purl.obolibrary.org/obo/HP_0009596	Absence of the proximal phalanx of the 2nd finger.
HP:0009597	Short proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021430		Hypoplastic/small proximal phalanx of the 2nd finger|Short proximal index finger phalanx|Short proximal phalanx of the second finger	http://purl.obolibrary.org/obo/HP_0009597	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	biolink:PhenotypicFeature	hp	UMLS:C4024274		Fused innermost bone of index finger with 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0009598	Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.
HP:0009599	Abnormality of thumb epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4021429		Abnormality of end part of thumb long bone|Abnormality of the epiphyses of the thumb|Abnormality of thumb epiphyses	http://purl.obolibrary.org/obo/HP_0009599	Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.
HP:0009600	Flexion contracture of thumb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:239736003|UMLS:C0409346		Contracture of thumb|Flexion deformities of thumbs|Joint contractures of the thumb	http://purl.obolibrary.org/obo/HP_0009600	Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.
HP:0009601	Aplasia/Hypoplasia of the thumb	biolink:PhenotypicFeature	hp	MSH:C536903|UMLS:C3179508		Absent/small thumb|Absent/underdeveloped thumb|Absent or hypoplastic thumbs|Absent/hypoplastic thumb|Absent/hypoplastic thumbs|Aplasia/hypoplasia of thumbs|Aplastic/hypoplastic thumbs|Hypoplastic to aplastic thumbs|Hypoplastic/absent thumb|Thumb aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0009601	Hypoplastic/small or absent thumb.
HP:0009602	Abnormality of thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021428		Abnormality of the thumb bones|Abnormality of thumb phalanges	http://purl.obolibrary.org/obo/HP_0009602	A structural anomaly of one or more phalanges of the thumb.
HP:0009603	Deviation of the thumb	biolink:PhenotypicFeature	hp	UMLS:C3552414		Abnormal thumb placement|Deviated thumb|Displacement of the thumb	http://purl.obolibrary.org/obo/HP_0009603	Displacement of the thumb from its normal position.
HP:0009606	Complete duplication of distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021427		Complete duplication of outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009606	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	biolink:PhenotypicFeature	hp	UMLS:C4024273		Complete duplication of the innermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009608	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	biolink:PhenotypicFeature	hp	UMLS:C4021426		Partial/complete duplication of the 1st long bone of hand|Partial/complete duplication of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0009609	Partail or complete duplication of the first metacarpal bone.
HP:0009611	Bifid distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C1860162		Notched outermost bone of the thumb|Bifid distal phalanx of thumb|Bifid terminal phalanges of thumbs|Bifid thumb distal phalanx|Incipient distal thumb phalanx duplication|Notched outermost bone of thumb|Notched terminal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009611	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	biolink:PhenotypicFeature	hp	UMLS:C4021425		Duplication of the outermost bone of the thumb|Double thumb distal phalanges|Duplicated terminal phalanx of thumb|Duplication of distal thumb phalanx|Duplication of terminal thumb phalanx|Partial/complete duplication of the distal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009612	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	biolink:PhenotypicFeature	hp	UMLS:C4021424		Notched innermost bone of thumb|Partial/complete duplication of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009613	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	biolink:PhenotypicFeature	hp	UMLS:C4024272		Notched thumb bone	http://purl.obolibrary.org/obo/HP_0009614	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	biolink:PhenotypicFeature	hp	UMLS:C4024271		Complete duplication of the first long bone of hand	http://purl.obolibrary.org/obo/HP_0009615	Complete duplication of the first metacarpal bone.
HP:0009616	Bifid first metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4021423		Notched first long bone of hand|partial duplication of the first metacarpal	http://purl.obolibrary.org/obo/HP_0009616	Partial duplication of the first metacarpal bone.
HP:0009617	Abnormality of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021422		Abnormality of the outermost bone of the thumb|Abnormality of terminal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009617	Any anomaly of the distal phalanx of thumb.
HP:0009618	Abnormality of the proximal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021421		Abnormal innermost thumb bone|Abnormality of proximal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009618	An anomaly of the shape or form of the proximal phalanx of the thumb.
HP:0009620	obsolete Radial deviation of the thumb	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009620	
HP:0009621	obsolete Ulnar deviation of the thumb	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009621	
HP:0009622	Distally placed thumb	biolink:PhenotypicFeature	hp	UMLS:C4024270			http://purl.obolibrary.org/obo/HP_0009622	Insertion of thumb at a more distal location than normal.
HP:0009623	Proximal placement of thumb	biolink:PhenotypicFeature	hp	UMLS:C1865572	hposlim_core	Attachment of thumb close to wrist|Low implantation of the thumb|Low-set thumb|Proximally placed thumbs	http://purl.obolibrary.org/obo/HP_0009623	Proximal mislocalization of the thumb.
HP:0009624	Contractures of the carpometacarpal joint of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024269			http://purl.obolibrary.org/obo/HP_0009624	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	Contractures of the metacarpophalangeal joint of the thumb	biolink:PhenotypicFeature	hp	UMLS:C2108151			http://purl.obolibrary.org/obo/HP_0009625	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	Contractures of the interphalangeal joint of the thumb	biolink:PhenotypicFeature	hp	UMLS:C2108146		Interphalangeal extension contractures of thumbs	http://purl.obolibrary.org/obo/HP_0009626	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	biolink:PhenotypicFeature	hp	UMLS:C4024268		Absent/small innermost thumb bone|Absent/underdeveloped innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009629	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	biolink:PhenotypicFeature	hp	UMLS:C4024267		Broad innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009630	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	biolink:PhenotypicFeature	hp	UMLS:C4024266		Bullet-shaped innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009631	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	biolink:PhenotypicFeature	hp	UMLS:C4024265		Curved innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009632	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	biolink:PhenotypicFeature	hp	UMLS:C4021420		Osteolytic defects of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009633	Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.
HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024264		Uneven increase in bone density in the innermost thumb bone	http://purl.obolibrary.org/obo/HP_0009634	An uneven increase in bone density of the proximal phalanx of the thumb.
HP:0009635	Synostosis of thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4024263		Fusion of thumb bone	http://purl.obolibrary.org/obo/HP_0009635	Fusion of a phalanx of the thumb with another bone.
HP:0009636	Triangular shaped proximal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021419		Triangular innermost thumb bone|Triangular proximal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009636	Triangular shaped proximal phalanx of the thumb.
HP:0009637	Absent proximal phalanx of thumb	biolink:PhenotypicFeature	hp	UMLS:C4021418		Absent innermost thumb bone|Absent ossification/absent proximal thumb phalanx|Aplasia of the proximal phalanx of the thumb	http://purl.obolibrary.org/obo/HP_0009637	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	biolink:PhenotypicFeature	hp	UMLS:C1855091		Hypoplastic/small proximal phalanx of the thumb|Short proximal phalanges of thumb|Short proximal thumb bone|Short proximal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009638	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	biolink:PhenotypicFeature	hp	UMLS:C4024262		Fusion of the innermost bone of the thumb with the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0009640	Fusion of the proximal phalanx of the thumb with the 1st metacarpal.
HP:0009641	Aplasia/Hypoplasia of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024261		Absent/small outermost thumb bone|Absent/underdeveloped outermost thumb bone	http://purl.obolibrary.org/obo/HP_0009641	
HP:0009642	Broad distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C1863402		Broad outermost bone of the thumb|Wide outermost bone of thumb|Broad terminal thumb phalanx|Wide distal phalanx of thumb	http://purl.obolibrary.org/obo/HP_0009642	Increased width of the distal phalanx of thumb.
HP:0009643	Bullet-shaped distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024260		Bullet-shaped outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009643	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	biolink:PhenotypicFeature	hp	UMLS:C4024259		Curved outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009644	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	biolink:PhenotypicFeature	hp	UMLS:C4021417		Osteolytic defects of the distal phalanx of the thumb|Osteolytic defects of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009645	Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.
HP:0009646	Patchy sclerosis of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024258		Uneven increase in bone density in the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009646	An uneven increase in bone density of the distal phalanx of the thumb.
HP:0009648	Triangular shaped distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024257		Triangular shaped outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009648	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	biolink:PhenotypicFeature	hp	UMLS:C4021416		Absence of the outermost bone of the thumb|Absent ossification/absent terminal thumb phalanx|Aplasia of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009649	Absence of the distal/terminal phalanx of the thumb.
HP:0009650	Short distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C1862313		Short outermost bone of the thumb|Hypoplastic terminal thumb phalanx|Hypoplastic/small distal phalanx of the thumb|Short terminal thumb phalanx|Short thumb terminal phalanx|Small terminal thumb phalanx	http://purl.obolibrary.org/obo/HP_0009650	Hypoplastic (short) distal phalanx of the thumb.
HP:0009652	Bullet-shaped thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021415		Bullet-shaped thumb bone|Bullet-shaped phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009652	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	biolink:PhenotypicFeature	hp	UMLS:C4021414		Curved thumb bone|Curved phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009653	A deviation from the normal straight shape of a thumb phalanx.
HP:0009654	Osteolytic defect of thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4020905		Osteolytic defects of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009654	Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.
HP:0009655	Patchy sclerosis of thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021413		Uneven increase in bone density in thumb bone|Patchy sclerosis of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009655	An uneven increase in bone density of one or more of the phalanges of the thumb.
HP:0009656	Symphalangism of the thumb	biolink:PhenotypicFeature	hp	UMLS:C1834032		Fused thumb bones|Fused thumb phalanges|Symphalangism of the distal and proximal phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009656	Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.
HP:0009657	Triangular shaped thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021412		Triangular shaped thumb bone|Triangular shaped phalanges of the thumb|Triangular thumb phalanges	http://purl.obolibrary.org/obo/HP_0009657	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	biolink:PhenotypicFeature	hp	UMLS:C4024256		Absent/small thumb bones|Absent/underdeveloped thumb bones	http://purl.obolibrary.org/obo/HP_0009658	
HP:0009659	Partial absence of thumb	biolink:PhenotypicFeature	hp	UMLS:C4020780|UMLS:C4024255		Partial absence of thumb|Aplasia of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009659	The absence of a phalangeal segment of a thumb.
HP:0009660	Short phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021411		Short thumb bone|Hypoplastic thumb phalanges|Hypoplastic/small phalanges of the thumb|Short thumb phalanges	http://purl.obolibrary.org/obo/HP_0009660	Hypoplastic (short) thumb phalanx.
HP:0009662	Abnormality of the epiphysis of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021410		Abnormality of the end part of the outermost bone of the thumb|Abnormality of terminal thumb epiphysis	http://purl.obolibrary.org/obo/HP_0009662	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	biolink:PhenotypicFeature	hp	UMLS:C4024254		Abnormality of end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009663	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	biolink:PhenotypicFeature	hp	UMLS:C4024253		Absent end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009664	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	biolink:PhenotypicFeature	hp	UMLS:C4024252		Bracket shaped end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009665	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	biolink:PhenotypicFeature	hp	UMLS:C4024251		Cone-shaped end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009666	A cone-shaped appearance of the epiphysis of the middle 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	biolink:PhenotypicFeature	hp	UMLS:C4024250		Enlarged end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009667	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	biolink:PhenotypicFeature	hp	UMLS:C4024249		Fragmentation of end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009668	Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.
HP:0009669	Irregular epiphysis of the proximal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024248		Irregular end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009669	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	biolink:PhenotypicFeature	hp	UMLS:C4024247		Increased bone density of end part of the innermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009670	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	biolink:PhenotypicFeature	hp	UMLS:C4024246			http://purl.obolibrary.org/obo/HP_0009671	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	biolink:PhenotypicFeature	hp	UMLS:C4024245		Small end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009672	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	biolink:PhenotypicFeature	hp	UMLS:C4024244		Speckled calcifications in end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009673	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	biolink:PhenotypicFeature	hp	UMLS:C4024243		Triangular end part of thumb innermost long bone	http://purl.obolibrary.org/obo/HP_0009674	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	biolink:PhenotypicFeature	hp	UMLS:C4024242		Absent end part of thumb outermost long bone	http://purl.obolibrary.org/obo/HP_0009675	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	biolink:PhenotypicFeature	hp	UMLS:C4024241		Bracket shaped end part of thumb outermost long bone	http://purl.obolibrary.org/obo/HP_0009676	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	biolink:PhenotypicFeature	hp	UMLS:C4021409		Cone-shaped end part of thumb outermost long bone|Cone-shaped terminal thumb phalanx epiphysis	http://purl.obolibrary.org/obo/HP_0009677	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	biolink:PhenotypicFeature	hp	UMLS:C4021408		Enlarged end part of thumb outermost long bone|Large terminal thumb phalanx epiphysis	http://purl.obolibrary.org/obo/HP_0009678	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	biolink:PhenotypicFeature	hp	UMLS:C4024240		Fragmentation of end part thumb outermost long bone	http://purl.obolibrary.org/obo/HP_0009679	Epiphysis of the distal phalanx of the thumb having multiple bony fragments.
HP:0009680	Irregular epiphysis of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024239		Irregular end part of thumb outermost bone	http://purl.obolibrary.org/obo/HP_0009680	Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.
HP:0009681	Ivory epiphysis of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024238		Increased bone density of end part of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009681	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	biolink:PhenotypicFeature	hp	UMLS:C4024237		Pseudoepiphysis of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009682	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	biolink:PhenotypicFeature	hp	UMLS:C4024236		Small end part of thumb outermost bone	http://purl.obolibrary.org/obo/HP_0009683	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	biolink:PhenotypicFeature	hp	UMLS:C4024235		Speckled calcifications in the end part of the outermost thumb bone	http://purl.obolibrary.org/obo/HP_0009684	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	biolink:PhenotypicFeature	hp	UMLS:C4024234		Triangular end part of thumb outermost bone|Triangular epiphysis of the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0009685	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	biolink:PhenotypicFeature	hp	UMLS:C4024233			http://purl.obolibrary.org/obo/HP_0009686	Absence of one or more epiphyses of the thumb.
HP:0009687	Bracket epiphyses of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4024232		Bracket shaped end part of the thumb bone	http://purl.obolibrary.org/obo/HP_0009687	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	biolink:PhenotypicFeature	hp	UMLS:C4021407		Cone-shaped end part of thumb long bone|Cone-shaped epiphyses of the thumb|Cone-shaped thumb epiphyses	http://purl.obolibrary.org/obo/HP_0009688	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	biolink:PhenotypicFeature	hp	UMLS:C4021406		Enlarged end part of thumb long bone|Enlarged epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009689	Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.
HP:0009690	Fragmentation of thumb epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4021405		Fragmentation of end part of long bone of thumb|Fragmentation of the epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009690	Epiphysis of the thumb having multiple bony fragments.
HP:0009691	Irregular thumb epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4021404		Irregular end part of thumb long bone|Irregular epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009691	Uneven radiographic opacity of the one or more epiphyses of the thumb.
HP:0009692	Ivory epiphysis of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021403		Increased bone density of end part of the thumb|Ivory epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009692	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	biolink:PhenotypicFeature	hp	UMLS:C3552484		Pseudoepiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009693	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	biolink:PhenotypicFeature	hp	UMLS:C4021402		Small end part of thumb long bone|Small epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009694	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	biolink:PhenotypicFeature	hp	UMLS:C4021401		Speckled calcifications in end part of thumb bone|Stippling of the epiphyses of the thumb	http://purl.obolibrary.org/obo/HP_0009695	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	biolink:PhenotypicFeature	hp	UMLS:C4024231		Triangular end part of the thumb bone	http://purl.obolibrary.org/obo/HP_0009696	
HP:0009697	Contracture of the distal interphalangeal joint of the fingers	biolink:PhenotypicFeature	hp	UMLS:C4024230			http://purl.obolibrary.org/obo/HP_0009697	Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.
HP:0009699	Osteolytic defects of the hand bones	biolink:PhenotypicFeature	hp	UMLS:C4021400		Lytic defects of hand bones	http://purl.obolibrary.org/obo/HP_0009699	
HP:0009700	Finger symphalangism	biolink:PhenotypicFeature	hp	UMLS:C4021399		Fused finger bones|Symphalangism of the hand|Synostosis involving bones of the fingers	http://purl.obolibrary.org/obo/HP_0009700	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	biolink:PhenotypicFeature	hp	UMLS:C4021398	hposlim_core	Fused long bones of hand|Synostosis involving metacarpal bones|Synostosis involving the metacarpal bones	http://purl.obolibrary.org/obo/HP_0009701	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253930002|UMLS:C0431863	hposlim_core	Fused wrist bones|Carpal bone fusion|Carpal fusion|Fused carpal bones|Fusion of carpal bones|Synostosis involving the carpal bones	http://purl.obolibrary.org/obo/HP_0009702	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	biolink:PhenotypicFeature	hp	UMLS:C4021397		Fusion involving 1st long bone of hand|First metacarpophalangeal joint synostosis|Symphalangism affecting the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0009703	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	biolink:PhenotypicFeature	hp	UMLS:C4024229		Chronic cerebrospinal fluid lymphocytosis	http://purl.obolibrary.org/obo/HP_0009704	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	biolink:PhenotypicFeature	hp	UMLS:C4024228		Fusion involving the 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0009705	
HP:0009706	Synostosis involving the 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024227		Fusion involving the 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0009706	
HP:0009707	Synostosis involving the 4th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024226		Fusion involving the 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0009707	
HP:0009708	Synostosis involving the 5th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024225		Fusion involving the 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0009708	
HP:0009709	Increased CSF interferon alpha	biolink:PhenotypicFeature	hp	UMLS:C1856983			http://purl.obolibrary.org/obo/HP_0009709	Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).
HP:0009710	Chilblains	biolink:PhenotypicFeature	hp	UMLS:C4024224		Chilblain lesions	http://purl.obolibrary.org/obo/HP_0009710	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	biolink:PhenotypicFeature	hp	NCIT:C3801|SNOMEDCT_US:312935003|UMLS:C0730303|UMLS:C1514915	hposlim_core	Retinal hemangioblastoma	http://purl.obolibrary.org/obo/HP_0009711	A benign vascular tumor of the retina without any neoplastic characteristics.
HP:0009713	Spinal hemangioblastoma	biolink:PhenotypicFeature	hp	NCIT:C3801|UMLS:C4024223			http://purl.obolibrary.org/obo/HP_0009713	A hemangioblastoma of the spinal cord.
HP:0009714	Abnormality of the epididymis	biolink:PhenotypicFeature	hp	UMLS:C4024222			http://purl.obolibrary.org/obo/HP_0009714	An abnormality of the epididymis.
HP:0009715	Papillary cystadenoma of the epididymis	biolink:PhenotypicFeature	hp	NCIT:C2974|UMLS:C4024221			http://purl.obolibrary.org/obo/HP_0009715	A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
HP:0009716	Subependymal nodules	biolink:PhenotypicFeature	hp	UMLS:C1968958			http://purl.obolibrary.org/obo/HP_0009716	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 or nodular heterotopia of grey matter.
HP:0009717	Cortical tubers	biolink:PhenotypicFeature	hp	UMLS:C1968959			http://purl.obolibrary.org/obo/HP_0009717	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	biolink:PhenotypicFeature	hp	MSH:D001254|SNOMEDCT_US:1586004|SNOMEDCT_US:449799008|UMLS:C0205768			http://purl.obolibrary.org/obo/HP_0009718	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	biolink:PhenotypicFeature	hp	UMLS:C4024220		Hypomelanotic macules	http://purl.obolibrary.org/obo/HP_0009719	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	biolink:PhenotypicFeature	hp	MSH:D014402|SNOMEDCT_US:36025004|SNOMEDCT_US:78424008|UMLS:C0265319|UMLS:C1368816		Facial angiofibromas|Sebaceous adenoma|Sebaceous adenomas	http://purl.obolibrary.org/obo/HP_0009720	The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.
HP:0009721	Shagreen patch	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254244007|UMLS:C0432363	hposlim_core		http://purl.obolibrary.org/obo/HP_0009721	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	biolink:PhenotypicFeature	hp	UMLS:C1860711		Dental enamel pits|Pitting of tooth enamel|Tooth enamel pits|Dental enamel pitting	http://purl.obolibrary.org/obo/HP_0009722	The presence of small depressions in the dental enamel.
HP:0009723	Abnormality of the subungual region	biolink:PhenotypicFeature	hp	UMLS:C4024219			http://purl.obolibrary.org/obo/HP_0009723	A lesion located beneath a fingernail or toenail.
HP:0009724	Subungual fibromas	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39295002|UMLS:C0266003		Subungual fibroma	http://purl.obolibrary.org/obo/HP_0009724	The presence of fibromata beneath finger or toenails.
HP:0009725	Bladder neoplasm	biolink:PhenotypicFeature	hp	MSH:D001749|NCIT:C3262|SNOMEDCT_US:126885006|UMLS:C0005695		Bladder cancer|Bladder tumor	http://purl.obolibrary.org/obo/HP_0009725	The presence of a neoplasm of the urinary bladder.
HP:0009726	Renal neoplasm	biolink:PhenotypicFeature	hp	MSH:D007680|NCIT:C3262|SNOMEDCT_US:126880001|UMLS:C0022665|UMLS:C1378703		Kidney cancer|Renal tumors|Neoplasia of the kidneys|Renal neoplasia	http://purl.obolibrary.org/obo/HP_0009726	The presence of a neoplasm of the kidney.
HP:0009727	Achromatic retinal patches	biolink:PhenotypicFeature	hp	UMLS:C1860710		Punched out areas of chorioretinal hypopigmentation	http://purl.obolibrary.org/obo/HP_0009727	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	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4021396		Tumors of striated muscle	http://purl.obolibrary.org/obo/HP_0009728	A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.
HP:0009729	Cardiac rhabdomyoma	biolink:PhenotypicFeature	hp	UMLS:C1332852			http://purl.obolibrary.org/obo/HP_0009729	A benign tumor of cardiac striated muscle.
HP:0009730	Rhabdomyoma	biolink:PhenotypicFeature	hp	MSH:D012207|NCIT:C3358|SNOMEDCT_US:302846007|SNOMEDCT_US:402877008|SNOMEDCT_US:43375002|UMLS:C0035411			http://purl.obolibrary.org/obo/HP_0009730	A benign tumor of striated muscle.
HP:0009731	Cerebral hamartoma	biolink:PhenotypicFeature	hp	UMLS:C4024218		Cerebral hamartomata	http://purl.obolibrary.org/obo/HP_0009731	The presence of a hamartoma of the cerebrum.
HP:0009732	Plexiform neurofibroma	biolink:PhenotypicFeature	hp	MSH:D018318|SNOMEDCT_US:403818001|SNOMEDCT_US:41252002|UMLS:C0206728			http://purl.obolibrary.org/obo/HP_0009732	A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.
HP:0009733	Glioma	biolink:PhenotypicFeature	hp	MSH:D005910|NCIT:C3059|SNOMEDCT_US:115240006|SNOMEDCT_US:393564001|SNOMEDCT_US:74532006|UMLS:C0017638			http://purl.obolibrary.org/obo/HP_0009733	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	biolink:PhenotypicFeature	hp	MSH:D020339|SNOMEDCT_US:254976006|SNOMEDCT_US:404662003|UMLS:C0346326		Optic glioma	http://purl.obolibrary.org/obo/HP_0009734	A glioma originating in the optic nerve or optic chiasm.
HP:0009735	Spinal neurofibromas	biolink:PhenotypicFeature	hp	UMLS:C4024217			http://purl.obolibrary.org/obo/HP_0009735	Neurofibromas originating in the spine.
HP:0009736	Tibial pseudarthrosis	biolink:PhenotypicFeature	hp	UMLS:C4024216		Tibial pseudoarthrosis	http://purl.obolibrary.org/obo/HP_0009736	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	biolink:PhenotypicFeature	hp	UMLS:C1860334	hposlim_core	Iris hamartomas	http://purl.obolibrary.org/obo/HP_0009737	The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
HP:0009738	Abnormality of the antihelix	biolink:PhenotypicFeature	hp	UMLS:C4021395	hposlim_core	Abnormal antehelix|Abnormal anthelix|Abnormal antihelix	http://purl.obolibrary.org/obo/HP_0009738	An abnormality of the antihelix.
HP:0009739	Hypoplasia of the antihelix	biolink:PhenotypicFeature	hp	UMLS:C4021394		Hypoplastic antihelix	http://purl.obolibrary.org/obo/HP_0009739	Developmental hypoplasia of the antihelix.
HP:0009740	Aplasia of the parotid gland	biolink:PhenotypicFeature	hp	UMLS:C1400252|UMLS:C4020779|UMLS:C4024215		Abnormally small parotid gland|Underdevelopment of parotid gland|Absence of the parotid gland|Hypoplasia of parotid gland	http://purl.obolibrary.org/obo/HP_0009740	Absence of the parotid gland.
HP:0009741	Nephrosclerosis	biolink:PhenotypicFeature	hp	MSH:D009400|SNOMEDCT_US:32916005|UMLS:C0027719		Scarring of kidney arteries|Thickening of kidney artiries	http://purl.obolibrary.org/obo/HP_0009741	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249918006|UMLS:C0241042		Stiff shoulders	http://purl.obolibrary.org/obo/HP_0009742	Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.
HP:0009743	Distichiasis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95339000|UMLS:C0423848	hposlim_core	Distichiasis of eyelid eyelashes	http://purl.obolibrary.org/obo/HP_0009743	Double rows of eyelashes.
HP:0009744	Abnormal spinal dura mater morphology	biolink:PhenotypicFeature	hp	UMLS:C4024214		Abnormality of the spinal dura mater	http://purl.obolibrary.org/obo/HP_0009744	An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.
HP:0009745	Spinalarachnoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4021393		Epidural arachnoid cysts of the spinal canal	http://purl.obolibrary.org/obo/HP_0009745	Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.
HP:0009746	Thick nasal septum	biolink:PhenotypicFeature	hp	UMLS:C1844810		Broad nasal septum|Broad septum of nose|Thick nasal septum|Thick septum of nose|Wide nasal septum|Wide septum of nose	http://purl.obolibrary.org/obo/HP_0009746	Abnormally increased thickness of the nasal septum.
HP:0009747	Lumbosacral hirsutism	biolink:PhenotypicFeature	hp	UMLS:C1851095			http://purl.obolibrary.org/obo/HP_0009747	Abnormally increased hair growth in the lumbosacral region.
HP:0009748	Large earlobe	biolink:PhenotypicFeature	hp	UMLS:C1844573	hposlim_core	Fleshy earlobe|Fleshy earlobes|Large earlobe|Prominent ear lobes|prominent ear lobules	http://purl.obolibrary.org/obo/HP_0009748	Increased volume of the earlobe, that is, abnormally prominent ear lobules.
HP:0009751	Aplasia of the pectoralis major muscle	biolink:PhenotypicFeature	hp	UMLS:C4024213		Absent pectoralis major muscle	http://purl.obolibrary.org/obo/HP_0009751	Absence of the pectoralis major muscle.
HP:0009752	Cleft in skull base	biolink:PhenotypicFeature	hp	UMLS:C1856027		Cleft in skull base|Cleft in cranial base	http://purl.obolibrary.org/obo/HP_0009752	A bony defect in the skull base.
HP:0009754	Fibrous syngnathia	biolink:PhenotypicFeature	hp	UMLS:C4021392	hposlim_core	Alveolar synechiae|Fusion of the alveolar ridges	http://purl.obolibrary.org/obo/HP_0009754	Complete or nearly complete soft tissue fusion of the alveolar ridges.
HP:0009755	Ankyloblepharon	biolink:PhenotypicFeature	hp	MSH:C536373|SNOMEDCT_US:193953008|SNOMEDCT_US:400952003|UMLS:C0339182|UMLS:C1302999	hposlim_core	Adhesion of eyelids|Eyelids stuck together|Ankyloblepharon filiforme adnatum|Eyelid synechiae	http://purl.obolibrary.org/obo/HP_0009755	Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
HP:0009756	Popliteal pterygium	biolink:PhenotypicFeature	hp	UMLS:C3805420	hposlim_core		http://purl.obolibrary.org/obo/HP_0009756	A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).
HP:0009757	Intercrural pterygium	biolink:PhenotypicFeature	hp	UMLS:C3810471			http://purl.obolibrary.org/obo/HP_0009757	A pterygium (or pterygia) in the intercrural (groin) region.
HP:0009758	Pyramidal skinfold extending from the base to the top of the nails	biolink:PhenotypicFeature	hp	UMLS:C4024212			http://purl.obolibrary.org/obo/HP_0009758	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	biolink:PhenotypicFeature	hp	UMLS:C1849577		Neck pterygium	http://purl.obolibrary.org/obo/HP_0009759	Pterygia affecting the neck.
HP:0009760	Antecubital pterygium	biolink:PhenotypicFeature	hp	MSH:C566738|UMLS:C1867439	hposlim_core	Pterygium cubitale|Webbed elbow	http://purl.obolibrary.org/obo/HP_0009760	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	biolink:PhenotypicFeature	hp	UMLS:C1849579			http://purl.obolibrary.org/obo/HP_0009761	Anterior schisis (cleft or cleavage) of vertebral bodies.
HP:0009762	Facial wrinkling	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248194004|UMLS:C0262478		Facial wrinkling	http://purl.obolibrary.org/obo/HP_0009762	Excessive wrinkling of the skin of the face.
HP:0009763	Limb pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90834002|UMLS:C0030196		Limb pain|Pain in extremities	http://purl.obolibrary.org/obo/HP_0009763	Chronic pain in the limbs with no clear focal etiology.
HP:0009765	Low hanging columella	biolink:PhenotypicFeature	hp	UMLS:C1856119|UMLS:C4280395		Columella, low|Columella, low hanging|Extension of the columella below the ala nasi|Low-hanging columella|Columella extends below the ala nasi|Prominent columella|Rounded columella	http://purl.obolibrary.org/obo/HP_0009765	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	biolink:PhenotypicFeature	hp	UMLS:C1848670		Aplastic/hypoplastic phalanges|Aplastic/hypoplastic phalanges of the hand|Hypoplastic/absent phalanges	http://purl.obolibrary.org/obo/HP_0009767	Small or missing phalangeal bones of the fingers of the hand.
HP:0009768	Broad phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021391		Wide hand bones|Widening of phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009768	Increased width of the phalanges of the hand.
HP:0009769	Bullet-shaped phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C1854952		Bullet-shaped hand bones|Bullet-shaped phalanges of the hands|Conical bullet-shaped distal ends of phalanges	http://purl.obolibrary.org/obo/HP_0009769	The presence of short and wide phalanges which taper distally ("bullet shaped").
HP:0009770	Curved phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024211		Curved hand bones	http://purl.obolibrary.org/obo/HP_0009770	
HP:0009771	Osteolytic defects of the phalanges of the hand	biolink:PhenotypicFeature	hp	MSH:D030981|SNOMEDCT_US:27201004|SNOMEDCT_US:63122002|UMLS:C0917990		Breakdown of small bones of fingers|Acro-osteolysis|Acroosteolysis	http://purl.obolibrary.org/obo/HP_0009771	Dissolution or degeneration of bone tissue of the phalanges of the hand.
HP:0009772	Patchy sclerosis of finger phalanx	biolink:PhenotypicFeature	hp	UMLS:C1857508		Uneven increase in bone density in finger bone|Patchy sclerosis of the phalanges of the hand|Phalangeal sclerosis	http://purl.obolibrary.org/obo/HP_0009772	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	biolink:PhenotypicFeature	hp	UMLS:C4021390		Fused finger bones of the hand|Synostosis involving phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009773	Fusion of two or more phalangeal bones of the hand.
HP:0009774	Triangular shaped phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C2673397		Triangular shaped hand bones|Delta phalanx/delta-like phalanx	http://purl.obolibrary.org/obo/HP_0009774	
HP:0009775	Amniotic constriction ring	biolink:PhenotypicFeature	hp	MSH:C535821|MSH:D000652|SNOMEDCT_US:19988008|SNOMEDCT_US:238879003|UMLS:C0334166|UMLS:C1527388		Amniotic bands|Pseudoainhum|Amniotic constriction band	http://purl.obolibrary.org/obo/HP_0009775	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	biolink:PhenotypicFeature	hp	Fyler:4173|SNOMEDCT_US:275348004|UMLS:C0238591|UMLS:C4280394	hposlim_core	Absent fingers or toes|Aphalangy	http://purl.obolibrary.org/obo/HP_0009776	The absence of all phalanges of all the digits of a limb and the associated soft tissues.
HP:0009777	Absent thumb	biolink:PhenotypicFeature	hp	UMLS:C3278811	hposlim_core	Absent thumb|Absent thumbs|Aplasia of the thumb|Thumb aplasia	http://purl.obolibrary.org/obo/HP_0009777	Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
HP:0009778	Short thumb	biolink:PhenotypicFeature	hp	MSH:C536903|SNOMEDCT_US:253936008|UMLS:C0431890	hposlim_core	Short thumb|Short thumbs|Small thumbs|Hypoplastic thumb|Hypoplastic thumbs|Hypoplastic/small thumb|Thumb brachydactyly|Thumb hypoplasia	http://purl.obolibrary.org/obo/HP_0009778	Hypoplasia (congenital reduction in size) of the thumb.
HP:0009779	3-4 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C1834062		Webbed 3rd-4th toes|syndactyly of 3rd - 4th toes	http://purl.obolibrary.org/obo/HP_0009779	Syndactyly with fusion of toes three and four.
HP:0009780	Iliac horns	biolink:PhenotypicFeature	hp	SNOMEDCT_US:84308008|UMLS:C0263925			http://purl.obolibrary.org/obo/HP_0009780	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	biolink:PhenotypicFeature	hp	UMLS:C4024210			http://purl.obolibrary.org/obo/HP_0009781	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	biolink:PhenotypicFeature	hp	UMLS:C4024209		Absent/small biceps|Absent/underdeveloped biceps	http://purl.obolibrary.org/obo/HP_0009782	Absence or underdevelopment of the biceps muscle.
HP:0009783	Biceps aplasia	biolink:PhenotypicFeature	hp	UMLS:C3805764		Absent biceps	http://purl.obolibrary.org/obo/HP_0009783	Absence of the biceps muscle.
HP:0009784	Aplasia/Hypoplasia of the triceps	biolink:PhenotypicFeature	hp	UMLS:C4024208		Absent/small triceps|Absent/underdeveloped triceps	http://purl.obolibrary.org/obo/HP_0009784	Absence or underdevelopment of the triceps muscle.
HP:0009785	Triceps aplasia	biolink:PhenotypicFeature	hp	UMLS:C3810484		Absent triceps	http://purl.obolibrary.org/obo/HP_0009785	Absence of the triceps muscle.
HP:0009786	Aplasia/Hypoplasia of the musculature of the thigh	biolink:PhenotypicFeature	hp	UMLS:C4024207		Absent/small thigh muscles|Absent/underdeveloped thigh muscles	http://purl.obolibrary.org/obo/HP_0009786	Absence or underdevelopment involving the musculature of the thigh.
HP:0009787	Aplasia/Hypoplasia of the quadriceps	biolink:PhenotypicFeature	hp	UMLS:C4024206		Absent/small quadriceps|Absent/underdeveloped quadriceps	http://purl.obolibrary.org/obo/HP_0009787	Absence or underdevelopment of the quadriceps muscle.
HP:0009788	Quadriceps aplasia	biolink:PhenotypicFeature	hp	UMLS:C3805765		Absent quads	http://purl.obolibrary.org/obo/HP_0009788	Absence of the quadriceps muscle.
HP:0009789	Perianal abscess	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82127005|UMLS:C0031019			http://purl.obolibrary.org/obo/HP_0009789	The presence of an abscess located around the anus.
HP:0009790	Hemisacrum	biolink:PhenotypicFeature	hp	UMLS:C2677632			http://purl.obolibrary.org/obo/HP_0009790	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	biolink:PhenotypicFeature	hp	UMLS:C4024204			http://purl.obolibrary.org/obo/HP_0009791	Presence of a bifid sacral bone.
HP:0009792	Teratoma	biolink:PhenotypicFeature	hp	MSH:D013724|NCIT:C3403|SNOMEDCT_US:55818009|UMLS:C0039538			http://purl.obolibrary.org/obo/HP_0009792	The presence of a teratoma.
HP:0009793	Presacral teratoma	biolink:PhenotypicFeature	hp	UMLS:C1867782		Altman type IV sacrococcygeal teratoma|Retrorectal teratoma	http://purl.obolibrary.org/obo/HP_0009793	A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).
HP:0009794	Branchial anomaly	biolink:PhenotypicFeature	hp	UMLS:C1862066	hposlim_core	Abnormality of branchial apparatus|Abnormality of branchial arch|Branchial abnormality|Branchial anomalies	http://purl.obolibrary.org/obo/HP_0009794	Congenital developmental defect arising from the primitive branchial apparatus.
HP:0009795	Branchial fistula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204268008|UMLS:C0546968	hposlim_core	Branchial cleft fistula	http://purl.obolibrary.org/obo/HP_0009795	A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
HP:0009796	Branchial cyst	biolink:PhenotypicFeature	hp	MSH:D001935|SNOMEDCT_US:42362005|SNOMEDCT_US:59857007|UMLS:C0006131		Branchial cysts|Branchial cleft cyst	http://purl.obolibrary.org/obo/HP_0009796	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	biolink:PhenotypicFeature	hp	MSH:D002781|SNOMEDCT_US:363668000|SNOMEDCT_US:575006|UMLS:C0008373			http://purl.obolibrary.org/obo/HP_0009797	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	biolink:PhenotypicFeature	hp	MSH:C562732|SNOMEDCT_US:32251000119106|UMLS:C0302859		Euthyroid goitre	http://purl.obolibrary.org/obo/HP_0009798	A goiter that is not associated with functional thyroid abnormalities.
HP:0009799	Supernumerary spleens	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10362008|UMLS:C0266631		Extra spleen	http://purl.obolibrary.org/obo/HP_0009799	The presence of two or more accessory spleens.
HP:0009800	Maternal diabetes	biolink:PhenotypicFeature	hp	MSH:D016640|SNOMEDCT_US:11687002|UMLS:C0085207|UMLS:C4020778		Maternal diabetes|gestational diabetes|maternal hyperglycemia	http://purl.obolibrary.org/obo/HP_0009800	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	biolink:PhenotypicFeature	hp	UMLS:C4024203|UMLS:C4280393		Absent finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009802	Absence of one or more of the phalanges of the hand.
HP:0009803	Short phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C0877165		Short finger bones|Hypoplastic phalanges|Hypoplastic phalanges of hands|Hypoplastic/small phalanges of the hand|Phalangeal hypoplasia|Rudimentary phalanges|Short phalanges|Shortened phalanges	http://purl.obolibrary.org/obo/HP_0009803	Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
HP:0009804	Reduced number of teeth	biolink:PhenotypicFeature	hp	UMLS:C4024202|UMLS:C4083050		Decreased tooth count|Reduced number of teeth|Decreased number of teeth|Fewer teeth than normal|Missing some teeth|Tooth agenesis|Failure of development of some teeth	http://purl.obolibrary.org/obo/HP_0009804	The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
HP:0009805	Low-output congestive heart failure	biolink:PhenotypicFeature	hp	UMLS:C4024201			http://purl.obolibrary.org/obo/HP_0009805	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	biolink:PhenotypicFeature	hp	MSH:D018500|SNOMEDCT_US:111395007|UMLS:C0162283			http://purl.obolibrary.org/obo/HP_0009806	A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).
HP:0009808	Anomaly of the upper limb diaphyses	biolink:PhenotypicFeature	hp	UMLS:C4021389		Abnormality of shaft of long bone of the upper limbs|Abnormality involving the diaphyses of the upper limbs|Diaphyseal abnormality of the upper limbs	http://purl.obolibrary.org/obo/HP_0009808	A structural abnormality of a diaphysis of the arm.
HP:0009809	Abnormality of upper limb metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4021388		Abnormality of the wide portion of upper limb bone|Metaphyseal abnormality of the upper limbs	http://purl.obolibrary.org/obo/HP_0009809	An anomaly of one or more metaphyses of the arms.
HP:0009810	Abnormality of upper limb joint	biolink:PhenotypicFeature	hp	UMLS:C4021387		Abnormality of the joints of the upper limbs|Abnormality of upper limb joint	http://purl.obolibrary.org/obo/HP_0009810	
HP:0009811	Abnormality of the elbow	biolink:PhenotypicFeature	hp	UMLS:C4021386	hposlim_core	Abnormality of the elbow|Abnormality of the elbows	http://purl.obolibrary.org/obo/HP_0009811	An anomaly of the joint that connects the upper and the lower arm.
HP:0009812	Amelia involving the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4024200			http://purl.obolibrary.org/obo/HP_0009812	Amelia of one or both upper limbs.
HP:0009813	Upper limb phocomelia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253926000|UMLS:C0265573			http://purl.obolibrary.org/obo/HP_0009813	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	biolink:PhenotypicFeature	hp	UMLS:C4024199			http://purl.obolibrary.org/obo/HP_0009814	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	biolink:PhenotypicFeature	hp	UMLS:C0239399		Absent/small extremities|Absent/underdeveloped extremities|Short or absent limbs|Shortened limbs	http://purl.obolibrary.org/obo/HP_0009815	Absence (due to failure to form) or underdevelopment of the extremities.
HP:0009816	Lower limb undergrowth	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253959002|UMLS:C0345371		Lower limb undergrowth|Underdeveloped lower limb bones|Hypoplasia involving bones of the lower limbs|Hypoplasia of the lower limbs	http://purl.obolibrary.org/obo/HP_0009816	Leg shortening because of underdevelopment of one or more bones of the lower extremity.
HP:0009817	Aplasia involving bones of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4024198		Absent bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0009817	
HP:0009818	Amelia involving the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4024197			http://purl.obolibrary.org/obo/HP_0009818	Amelia of one or both legs.
HP:0009819	Lower limb phocomelia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253963009|UMLS:C0265625			http://purl.obolibrary.org/obo/HP_0009819	Phocomelia affecting only the lower limbs.
HP:0009820	Lower limb peromelia	biolink:PhenotypicFeature	hp	UMLS:C4024196			http://purl.obolibrary.org/obo/HP_0009820	Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
HP:0009821	Forearm undergrowth	biolink:PhenotypicFeature	hp	UMLS:C1855299		Forearm undergrowth|Short forearm bones|Short forearms|Shortened forearm|Hypoplasia involving forearm bones	http://purl.obolibrary.org/obo/HP_0009821	Forearm shortening because of underdevelopment of one or more bones of the forearm.
HP:0009822	Aplasia involving forearm bones	biolink:PhenotypicFeature	hp	UMLS:C4024195		Absent forearm bones	http://purl.obolibrary.org/obo/HP_0009822	
HP:0009823	Aplasia involving bones of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4024194		Absent bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0009823	
HP:0009824	Upper limb undergrowth	biolink:PhenotypicFeature	hp	UMLS:C1837406		Short arms|Shortening of the arms|Upper limb undergrowth|Hypoplasia involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0009824	Arm shortening because of underdevelopment of one or more bones of the upper extremity.
HP:0009825	Aplasia involving bones of the extremities	biolink:PhenotypicFeature	hp	UMLS:C4024193		Absent bones of the extremities	http://purl.obolibrary.org/obo/HP_0009825	
HP:0009826	Limb undergrowth	biolink:PhenotypicFeature	hp	UMLS:C0239399		Limb undergrowth|Short limb|Short limbs|limb shortening|Hypoplasia involving bones of the extremities	http://purl.obolibrary.org/obo/HP_0009826	Limb shortening because of underdevelopment of one or more bones of the extremities.
HP:0009827	Amelia	biolink:PhenotypicFeature	hp	MEDDRA:10001926|MSH:D004480|SNOMEDCT_US:62588002|UMLS:C0002447	hposlim_core		http://purl.obolibrary.org/obo/HP_0009827	Congenital absence (aplasia) of one or more limbs.
HP:0009828	Peromelia	biolink:PhenotypicFeature	hp	UMLS:C4024192			http://purl.obolibrary.org/obo/HP_0009828	The distal parts of the limbs are missing leading to a stump formation.
HP:0009829	Phocomelia	biolink:PhenotypicFeature	hp	MEDDRA:10034923|MSH:D004480|SNOMEDCT_US:22841008|UMLS:C0031575	hposlim_core		http://purl.obolibrary.org/obo/HP_0009829	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	biolink:PhenotypicFeature	hp	MSH:D010523|SNOMEDCT_US:302226006|SNOMEDCT_US:386033004|SNOMEDCT_US:42658009|UMLS:C0031117|UMLS:C0442874		Peripheral nerve damage|Peripheral neuritis|Neuropathy	http://purl.obolibrary.org/obo/HP_0009830	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	biolink:PhenotypicFeature	hp	MSH:D020422|SNOMEDCT_US:128189008|UMLS:C0494491		Single damaged nerve	http://purl.obolibrary.org/obo/HP_0009831	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	biolink:PhenotypicFeature	hp	UMLS:C4021385		Abnormality of the outermost finger bone|Abnormal terminal phalanges of the hand|Abnormality of the distal phalanges of the hand|Abnormality of the distal phalanx of finger	http://purl.obolibrary.org/obo/HP_0009832	Any anomaly of distal phalanx of finger.
HP:0009833	Abnormal middle phalanx morphology of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024191		Abnormality of the middle finger bones of the hand|Abnormality of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009833	An anomaly of middle phalanx of finger.
HP:0009834	Abnormal proximal phalanx morphology of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024190		Abnormality of the innermost finger bones of the hand|Abnormality of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009834	
HP:0009835	Aplasia/Hypoplasia of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C1861336		Absent/small outermost finger bone of the hand|Absent/underdeveloped outermost finger bone of the hand|Absent/hypoplastic distal phalanges|Aplasia/Hypoplasia of the distal phalanges|Aplastic/hypoplastic distal phalanges|Hypoplastic to absent terminal phalanges|Hypoplastic/aplastic distal phalanges|Hypoplastic/aplastic distal phalanx|Small or absent distal phalanges	http://purl.obolibrary.org/obo/HP_0009835	Absence or underdevelopment of the distal phalanges.
HP:0009836	Broad distal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C1850630		Broad outermost finger bone|Broad distal phalanges|Broad distal phalanges of the hand|Broad distal phalanx|Broad terminal phalanges|Broad, square ends of distal phalanges|Spatulate terminal phalanges	http://purl.obolibrary.org/obo/HP_0009836	Abnormally wide (broad) distal phalanx of finger.
HP:0009837	Bullet-shaped distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024189		Bullet-shaped outermost finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009837	Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009838	Curved distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024188		Curved outermost finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009838	
HP:0009839	Osteolytic defects of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C1849547		Acro-osteolysis of distal phalanges|Acroosteolysis of distal phalanges|Osteolytic defects of the outermost finger bone of the hand	http://purl.obolibrary.org/obo/HP_0009839	
HP:0009840	Patchy sclerosis of distal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4021384		Uneven increase in bone density in outermost finger bone|Patchy sclerosis of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009840	Uneven (irregular) increase in bone density of the distal phalanges of the hand.
HP:0009843	Aplasia/Hypoplasia of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C1862152		Absent/small middle finger bone of the hand|Absent/underdeveloped middle finger bone of the hand|Absent/hypoplastic middle phalanges|Aplasia/hypoplasia of middle phalanges|Aplastic/hypoplastic middle phalanges|Hypoplastic/aplastic middle phalanx|Short to absent middle phalanges|Short/absent middle phalanges	http://purl.obolibrary.org/obo/HP_0009843	
HP:0009844	Broad middle phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4021383		Broad middle finger bones|Broad middle phalanges of finger|Broad middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009844	Increased width of the middle phalanx of finger.
HP:0009845	Bullet-shaped middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024187			http://purl.obolibrary.org/obo/HP_0009845	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	biolink:PhenotypicFeature	hp	UMLS:C4024186		Curved middle finger bonds of the hand	http://purl.obolibrary.org/obo/HP_0009846	
HP:0009847	Osteolytic defects of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024185			http://purl.obolibrary.org/obo/HP_0009847	
HP:0009848	Patchy sclerosis of middle phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4021382		Uneven increase in bone density in the middle finger bones of the hand|Patchy sclerosis of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009848	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	biolink:PhenotypicFeature	hp	UMLS:C4024184		Fused middle finger bone	http://purl.obolibrary.org/obo/HP_0009849	Fusion of a middle phalanx of a finger with another bone.
HP:0009850	Triangular shaped middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024183		Triangular shaped middle finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009850	
HP:0009851	Aplasia/Hypoplasia of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024182		Absent/small innermost finger bones of the hand|Absent/underdeveloped innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009851	
HP:0009852	Broad proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024181		Broad innermost finger bones of the hand|Wide innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009852	Increased width of the proximal phalanges of the finger.
HP:0009853	Bullet-shaped proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024180		Bullet-shaped innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009853	Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.
HP:0009854	Curved proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024179		Curved innermost finger bones of the hand	http://purl.obolibrary.org/obo/HP_0009854	
HP:0009855	Osteolytic defects of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C1850148		Proximal phalanges osteolysis	http://purl.obolibrary.org/obo/HP_0009855	
HP:0009856	Patchy sclerosis of proximal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4021381		Uneven increase in bone density in innermost finger bone|Patchy sclerosis of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009856	Uneven increase in bone density of the proximal phalanges of the hand.
HP:0009857	Symphalangism affecting the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024178		Fused innermost hand bones	http://purl.obolibrary.org/obo/HP_0009857	
HP:0009858	Triangular shaped proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024177		Triangular shaped innermost finger bone	http://purl.obolibrary.org/obo/HP_0009858	
HP:0009875	Triangular shaped distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024176		Triangular shaped outermost bone of the hand	http://purl.obolibrary.org/obo/HP_0009875	
HP:0009878	Cerebellar ataxia associated with quadrupedal gait	biolink:PhenotypicFeature	hp	UMLS:C4024175			http://purl.obolibrary.org/obo/HP_0009878	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	biolink:PhenotypicFeature	hp	UMLS:C2749675		Cortical gyral simplification	http://purl.obolibrary.org/obo/HP_0009879	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	biolink:PhenotypicFeature	hp	UMLS:C4024174		Broad outermost hand bones	http://purl.obolibrary.org/obo/HP_0009880	Abnormally wide (broad) distal phalanx of finger of all fingers.
HP:0009881	Aplasia of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4024173		Absent outermost hand bone|Absent distal phalanges of the hand|Aplasia of outermost hand bone	http://purl.obolibrary.org/obo/HP_0009881	
HP:0009882	Short distal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C1839829	hposlim_core	Short outermost finger bone|Brachytelophalangy|Distal phalangeal hypoplasia|Hypoplasia of the distal phalanges|Hypoplasia of the distal phalanges of the hand|Hypoplasic terminal phalanges|Hypoplastic distal phalanges|Hypoplastic terminal phalanges|Short distal phalanges|Terminal phalangeal hypoplasia of hand	http://purl.obolibrary.org/obo/HP_0009882	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	biolink:PhenotypicFeature	hp	UMLS:C1849343		Duplication of the outermost bone of hand|Notched outermost bone of hand|Bifid terminal phalanges|Partial/complete duplication of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009883	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	biolink:PhenotypicFeature	hp	UMLS:C1969237		Tapered outermost finger bone|Tapered distal phalanges|Tapered distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0009884	A reduction in diameter of the distal phalanx of finger towards the distal end.
HP:0009885	obsolete Prenatal short stature	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0009885	
HP:0009886	Trichorrhexis nodosa	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22486004|SNOMEDCT_US:238736006|UMLS:C0263485			http://purl.obolibrary.org/obo/HP_0009886	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	biolink:PhenotypicFeature	hp	UMLS:C4024172		Abnormality of hair color|Abnormality of hair pigmentation	http://purl.obolibrary.org/obo/HP_0009887	An abnormality of hair pigmentation (color).
HP:0009888	Abnormality of secondary sexual hair	biolink:PhenotypicFeature	hp	UMLS:C4024171		Abnormality of secondary sexual hair	http://purl.obolibrary.org/obo/HP_0009888	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	biolink:PhenotypicFeature	hp	UMLS:C4024170		Localized abnormal hair growth|Localised hirsutism	http://purl.obolibrary.org/obo/HP_0009889	Abnormally increased hair growth with a localized distribution.
HP:0009890	High anterior hairline	biolink:PhenotypicFeature	hp	UMLS:C3276036	hposlim_core	High frontal hairline	http://purl.obolibrary.org/obo/HP_0009890	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	biolink:PhenotypicFeature	hp	UMLS:C1861869|UMLS:C4020777	hposlim_core	Flattened bony protrusion above eyes|Underdeveloped brows|Depressed supraorbital margins|Depressed supraorbital ridge|Flat supraorbital margins|Flat supraorbital ridge|Hypoplasia of supraorbital margins|Hypoplasia of the supraorbital ridges|Hypoplastic supraorbital ridges|Shallow orbital ridges|Shallow supraorbital ridge	http://purl.obolibrary.org/obo/HP_0009891	Flatness of the supraorbital portion of the frontal bones.
HP:0009892	Anotia	biolink:PhenotypicFeature	hp	MSH:D065817|SNOMEDCT_US:57436000|UMLS:C0702139|UMLS:C1408788	hposlim_core	Absent ear|Absent ears|Congenital absence of external ear	http://purl.obolibrary.org/obo/HP_0009892	Complete absence of any auricular structures.
HP:0009893	Telangiectasia of the ear	biolink:PhenotypicFeature	hp	UMLS:C4024169	hposlim_core		http://purl.obolibrary.org/obo/HP_0009893	The presence of telangiectasia of the ear.
HP:0009894	Thickened ears	biolink:PhenotypicFeature	hp	UMLS:C4024168	hposlim_core	Thickened ears	http://purl.obolibrary.org/obo/HP_0009894	Increased thickness of the external ear.
HP:0009895	Abnormality of the crus of the helix	biolink:PhenotypicFeature	hp	UMLS:C4021380		Abnormality of the crus of the ear	http://purl.obolibrary.org/obo/HP_0009895	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	Abnormality of the antitragus	biolink:PhenotypicFeature	hp	UMLS:C4024167	hposlim_core		http://purl.obolibrary.org/obo/HP_0009896	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	biolink:PhenotypicFeature	hp	UMLS:C4021379	hposlim_core	Helix, crus, horizontal|Horizontal orientation of the crus of helix|Horizontal orientation of the ear crus	http://purl.obolibrary.org/obo/HP_0009897	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	biolink:PhenotypicFeature	hp	UMLS:C4021378	hposlim_core	Hypoplasia of the crus of the ear|Underdeveloped crus of the ear	http://purl.obolibrary.org/obo/HP_0009898	Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.
HP:0009899	Prominent crus of helix	biolink:PhenotypicFeature	hp	UMLS:C4021377	hposlim_core	Abnormal prominence of the crus of the ear|Helix, crus, prominent|Hyperplastic helix crus|Hypertrophic helix crus	http://purl.obolibrary.org/obo/HP_0009899	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	biolink:PhenotypicFeature	hp	MSH:D046088|SNOMEDCT_US:162342008|UMLS:C2607947		Deafness in one ear|Deafness, unilateral	http://purl.obolibrary.org/obo/HP_0009900	A unilateral absence of sensory perception of sound.
HP:0009901	Crumpled ear	biolink:PhenotypicFeature	hp	UMLS:C4024166	hposlim_core	Crumpled ear	http://purl.obolibrary.org/obo/HP_0009901	Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
HP:0009902	Cleft helix	biolink:PhenotypicFeature	hp	UMLS:C4021376	hposlim_core	Notched helix|Notching of the ear helix	http://purl.obolibrary.org/obo/HP_0009902	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:428477002|UMLS:C1996949	hposlim_core		http://purl.obolibrary.org/obo/HP_0009903	Presence of nodules in the conjunctiva of the eye.
HP:0009904	Prominent ear helix	biolink:PhenotypicFeature	hp	UMLS:C4020776|UMLS:C4024165		Large helix	http://purl.obolibrary.org/obo/HP_0009904	Abnormally prominent ear helix.
HP:0009905	Thin ear helix	biolink:PhenotypicFeature	hp	UMLS:C4024164	hposlim_core		http://purl.obolibrary.org/obo/HP_0009905	Decreased thickness of the helix of the ear.
HP:0009906	Aplasia/Hypoplasia of the earlobes	biolink:PhenotypicFeature	hp	UMLS:C1851792		Absent/small ear lobes|Absent/underdeveloped ear lobes	http://purl.obolibrary.org/obo/HP_0009906	Absence or underdevelopment of the ear lobes.
HP:0009907	Attached earlobe	biolink:PhenotypicFeature	hp	UMLS:C4021375	hposlim_core	Attached earlobe|Adherent earlobe	http://purl.obolibrary.org/obo/HP_0009907	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	biolink:PhenotypicFeature	hp	UMLS:C1851897	hposlim_core	Earlobe crease|Transverse earlobe creases	http://purl.obolibrary.org/obo/HP_0009908	Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
HP:0009909	Uplifted earlobe	biolink:PhenotypicFeature	hp	UMLS:C1856117	hposlim_core	Lobe, uplifted|Uplifted earlobe|Upturned earlobe|Uplifted earlobes|Upturned earlobes|Fleshy upturned lobules	http://purl.obolibrary.org/obo/HP_0009909	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	biolink:PhenotypicFeature	hp	UMLS:C4021374		Absent middle ear bones|Absent middle ear ossicles	http://purl.obolibrary.org/obo/HP_0009910	Absence of the middle ear ossicles, malleus, incus, and stapes.
HP:0009911	Abnormal temporal bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4024163	hposlim_core	Abnormality of the temporal bone	http://purl.obolibrary.org/obo/HP_0009911	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	Abnormality of the tragus	biolink:PhenotypicFeature	hp	UMLS:C4024162			http://purl.obolibrary.org/obo/HP_0009912	An abnormality of the tragus.
HP:0009913	Aplasia/Hypoplasia of the tragus	biolink:PhenotypicFeature	hp	UMLS:C4024161		Absent/small tragus|Absent/underdeveloped tragus	http://purl.obolibrary.org/obo/HP_0009913	Aplasia or developmental hypoplasia of the tragus.
HP:0009914	Cyclopia	biolink:PhenotypicFeature	hp	MSH:C562573|SNOMEDCT_US:205798005|UMLS:C0266667	hposlim_core	Cyclops eye|Single central eye	http://purl.obolibrary.org/obo/HP_0009914	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	biolink:PhenotypicFeature	hp	UMLS:C4021373	hposlim_core	Asymmetry of the corneas	http://purl.obolibrary.org/obo/HP_0009915	The presence of a size difference between the left and right cornea.
HP:0009916	Anisocoria	biolink:PhenotypicFeature	hp	MSH:D015875|SNOMEDCT_US:13045009|UMLS:C0003079	hposlim_core	Asymmetric pupil sizes|Asymmetry of the pupils|Unequal pupil size|Unequal pupil dilatation	http://purl.obolibrary.org/obo/HP_0009916	Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
HP:0009917	Persistent pupillary membrane	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95500008|UMLS:C0344541			http://purl.obolibrary.org/obo/HP_0009917	The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
HP:0009918	Ectopia pupillae	biolink:PhenotypicFeature	hp	MSH:C536185|SNOMEDCT_US:193523008|SNOMEDCT_US:392461003|UMLS:C1271219	hposlim_core	Displaced pupil|Corectopia	http://purl.obolibrary.org/obo/HP_0009918	A malposition of the pupil owing to a developmental defect of the iris.
HP:0009919	Retinoblastoma	biolink:PhenotypicFeature	hp	MSH:D012175|MSH:D019572|NCIT:C7541|SNOMEDCT_US:127002001|SNOMEDCT_US:19906005|SNOMEDCT_US:370967009|UMLS:C0035335|UMLS:C0524801		Retina tumor	http://purl.obolibrary.org/obo/HP_0009919	A tumor of the eye originating from cells of the retina.
HP:0009920	Nevus of Ota	biolink:PhenotypicFeature	hp	MSH:D009507|SNOMEDCT_US:254817005|SNOMEDCT_US:414929001|UMLS:C0027961		Naevus fuscoceruleus ophthalmomaxillaris|Congenital melanosis bulbi|Nevus fuscoceruleus ophthalmomaxillaris|Oculodermal melanocytosis	http://purl.obolibrary.org/obo/HP_0009920	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	biolink:PhenotypicFeature	hp	MSH:D004370|SNOMEDCT_US:60318001|UMLS:C0013261|UMLS:C1846464|UMLS:C4072873	hposlim_core	Limited eye motility from Duane anomaly|Limited eye movement from Duane anomaly|Globe retraction and deviation on adduction	http://purl.obolibrary.org/obo/HP_0009921	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	biolink:PhenotypicFeature	hp	UMLS:C4024160		Persistence of the hyaloid artery|Persistent hyaloid artery	http://purl.obolibrary.org/obo/HP_0009922	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204519007|SNOMEDCT_US:93278002|UMLS:C0685684|UMLS:C4024159|UMLS:C4280392		Decreased nasal size|Decreased size of nose|Hypoplasia of the nose|Hypotrophic nose	http://purl.obolibrary.org/obo/HP_0009924	Underdevelopment or absence of the nose or parts thereof.
HP:0009926	Epiphora	biolink:PhenotypicFeature	hp	MSH:D007766|SNOMEDCT_US:193982009|SNOMEDCT_US:418035005|UMLS:C0152227	hposlim_core	Increased tears|Tearing|Watery eyes|Increased lacrimation	http://purl.obolibrary.org/obo/HP_0009926	Abnormally increased lacrimation, that is, excessive tearing (watering eye).
HP:0009927	Aplasia of the nose	biolink:PhenotypicFeature	hp	MSH:C537438|SNOMEDCT_US:111317000|UMLS:C0265740|UMLS:C4280391	hposlim_core	Absent nose|Failure of development of nose|Nasal underdevelopment|Underdevelopment of nose|Missing nose|Arrhinia	http://purl.obolibrary.org/obo/HP_0009927	Complete absence of all nasal structures.
HP:0009928	Thick nasal alae	biolink:PhenotypicFeature	hp	UMLS:C1844809	hposlim_core	Ala nasi, thick|Thickening of the alae nasi	http://purl.obolibrary.org/obo/HP_0009928	Increase in bulk of the ala nasi.
HP:0009929	Abnormality of the columella	biolink:PhenotypicFeature	hp	UMLS:C4024158		Anomaly of the columella|Deformity of the columella|Malformation of the columella	http://purl.obolibrary.org/obo/HP_0009929	An abnormality of the columella.
HP:0009930	Asymmetry of the nares	biolink:PhenotypicFeature	hp	UMLS:C4024157	hposlim_core	Asymmetry of nostrils|Crooked nostrils|Unequal nostril shape|Unequal nostril size|Uneven nostril shape|Uneven nostril size	http://purl.obolibrary.org/obo/HP_0009930	Asymmetry or size difference between the left and right nostril.
HP:0009931	Enlarged naris	biolink:PhenotypicFeature	hp	SNOMEDCT_US:399353008|UMLS:C0426440	hposlim_core	Broad nostril|Dilated nostril|Enlarged nostril|Wide nares|Wide nostril|Dilated nares|Enlarged nares|Increased diameter of nares|Increased diameter of nostril|Increased width of nares|Large nares|Naris, broad|Naris, enlarged	http://purl.obolibrary.org/obo/HP_0009931	Increased aperture of the nostril.
HP:0009932	Single naris	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95266003|UMLS:C0685682	hposlim_core	Mono nostril|One nostril|Single nostril|Single nare	http://purl.obolibrary.org/obo/HP_0009932	The presence of only a single nostril.
HP:0009933	Narrow naris	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249336003|SNOMEDCT_US:249339005|UMLS:C0426436|UMLS:C0426439|UMLS:C1849366|UMLS:C4280390	hposlim_core	Narrow nostrils|Slit-like nostrils|Small nostrils|Thin nostrils|Collapsed nostrils|Naris, narrow|Naris, slit-like|Narrow nares|Thin nares	http://purl.obolibrary.org/obo/HP_0009933	Slender, slit-like aperture of the nostril.
HP:0009934	Supernumerary naris	biolink:PhenotypicFeature	hp	UMLS:C4021372	hposlim_core	Extra nostril|Accessory nares|Accessory nostril|Supernumerary nares|Supernumerary nostrils	http://purl.obolibrary.org/obo/HP_0009934	The presence of more than two nostrils.
HP:0009935	Aplasia/Hypoplasia of the nasal septum	biolink:PhenotypicFeature	hp	UMLS:C4024156		Underdevelopment of nasal septum|Failure of development of nasal septum|Ageneis of nasal septum	http://purl.obolibrary.org/obo/HP_0009935	Absence or underdevelopment of the nasal septum.
HP:0009936	Narrow nasal septum	biolink:PhenotypicFeature	hp	UMLS:C4024155	hposlim_core	Decreased width of nasal septum|Narrow nasal septum|Narrow septum of nose|Thin nasal septum|Thin septum of nose	http://purl.obolibrary.org/obo/HP_0009936	Abnormally narrow nasal septum.
HP:0009937	Facial hirsutism	biolink:PhenotypicFeature	hp	UMLS:C1850041|UMLS:C2128203		Excessive face hair	http://purl.obolibrary.org/obo/HP_0009937	Excess facial hair.
HP:0009938	Sunken cheeks	biolink:PhenotypicFeature	hp	UMLS:C4024154	hposlim_core	Depressed cheeks|Hollow cheeks|Sunken cheeks	http://purl.obolibrary.org/obo/HP_0009938	Lack or loss of the soft tissues between the zygomata and mandible.
HP:0009939	Mandibular aplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:91896009|SNOMEDCT_US:91922000|UMLS:C0685775|UMLS:C0685776|UMLS:C4021371		Failure of development of lower jaw|Missing lower jaw|Absence of lower jaw bones|Agnathia|Absence of lower jaw|Absence of lower jaw bone|Absence of mandible|Absent mandible|Agenesis of the mandible|Aplasia of the lower jaw bone|Failure of development of mandible	http://purl.obolibrary.org/obo/HP_0009939	Absence of the mandible.
HP:0009940	Asymmetry of the mandible	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235082006|UMLS:C0399518|UMLS:C4082201	hposlim_core	Asymmetry of lower jaw|Crooked lower jaw|Lower jaw shifted to one side|Tilted lower jaw|Uneven lower jaw|Deviation of the lower jaw|Tilted mandible|Canted lower jaw|Canted mandible|Deviation of lower jaw|Deviation of mandible|Uneven mandible|Deviation of the mandible	http://purl.obolibrary.org/obo/HP_0009940	Lack of symmetry between the left and right mandible.
HP:0009941	Asymmetry of the mouth	biolink:PhenotypicFeature	hp	UMLS:C4024153	hposlim_core	Asymmetry of the mouth|Crooked mouth|Tilted mouth|Uneven mouth|Canted mouth|Asymmetry of oral cavity	http://purl.obolibrary.org/obo/HP_0009941	The presence of an asymmetric mouth.
HP:0009942	Duplication of thumb phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021370		Complete/partial duplication of phalanges of the thumb|Duplicated thumbs|Duplication of phalanx of thumb|Duplicated thumb	http://purl.obolibrary.org/obo/HP_0009942	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	biolink:PhenotypicFeature	hp	UMLS:C3554724		Complete duplication of thumb bones|Complete duplication of the phalanges of the thumb|Digitalization of thumb|Digitalization of thumbs	http://purl.obolibrary.org/obo/HP_0009943	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	biolink:PhenotypicFeature	hp	UMLS:C4082168		Partial duplication of the thumb bones|Bifid thumb|Notching of thumb phalanges|Partial duplication of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0009944	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	biolink:PhenotypicFeature	hp	UMLS:C4021369		Duplication of the bones of index finger|Partial/complete duplication of phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009945	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	biolink:PhenotypicFeature	hp	UMLS:C4024152		Extra index finger	http://purl.obolibrary.org/obo/HP_0009946	
HP:0009947	Duplication of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021368		Duplication of the proximal bones of the index finger|Partial/complete duplication of the proximal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009947	Partial or complete duplication of the second proximal phalanx of hand.
HP:0009948	Duplication of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021367		Partial/complete duplication of the outermost bone of the index finger|Partial/complete duplication of the distal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009948	Partial or complete duplication of the distal phalanx of index finger.
HP:0009949	Duplication of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021366		Partial/complete duplication of the middle bones of the index finger|Partial/complete duplication of the middle phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009949	Partial or complete duplication of the middle phalanx of index finger.
HP:0009950	Complete duplication of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024151		Complete duplication of the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0009950	Complete duplication of the distal phalanx of index finger.
HP:0009951	Partial duplication of the distal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021365		Notched outermost bone of the index finger|Partial duplication of the outermost bone of the 2nd finger|Bifid terminal phalanx of the 2nd finger	http://purl.obolibrary.org/obo/HP_0009951	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	biolink:PhenotypicFeature	hp	UMLS:C4024150		Complete duplication of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009952	Complete duplication of the middle phalanx of index finger.
HP:0009953	Partial duplication of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024149		Partial duplication of the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0009953	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	biolink:PhenotypicFeature	hp	UMLS:C4024148		Complete duplication of the proximal bone of the index finger	http://purl.obolibrary.org/obo/HP_0009954	Complete duplication of the second proximal phalanx of hand.
HP:0009955	Partial duplication of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4024147		Partial duplication of the proximal bones of the index finger	http://purl.obolibrary.org/obo/HP_0009955	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	biolink:PhenotypicFeature	hp	UMLS:C4024146		Partial duplication of the bones of the index finger	http://purl.obolibrary.org/obo/HP_0009956	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	biolink:PhenotypicFeature	hp	UMLS:C4024145		Complete duplication of the bones of the index finger	http://purl.obolibrary.org/obo/HP_0009957	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	biolink:PhenotypicFeature	hp	UMLS:C4024144		Extra middle finger	http://purl.obolibrary.org/obo/HP_0009958	
HP:0009959	Duplication of phalanx of 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021364		Duplication of middle finger bone|Partial/complete duplication of phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009959	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	biolink:PhenotypicFeature	hp	UMLS:C4024143		Complete duplication of middle finger bones	http://purl.obolibrary.org/obo/HP_0009960	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	biolink:PhenotypicFeature	hp	UMLS:C4024142		Partial duplication of middle finger bones	http://purl.obolibrary.org/obo/HP_0009961	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	biolink:PhenotypicFeature	hp	UMLS:C4021363		Partial/complete duplication of the outermost bone of the middle finger|Partial/complete duplication of the distal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009962	Partial or complete duplication of the distal phalanx of middle finger.
HP:0009963	Duplication of the middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021362		Duplication of the middle bone of the middle finger|Partial/complete duplication of the middle phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009963	Partial or complete duplication of the middle phalanx of middle finger.
HP:0009964	Duplication of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021361		Duplication of the proximal bone of the middle finger|Partial/complete duplication of the proximal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009964	Partial or complete duplication of the third proximal phalanx of hand.
HP:0009965	Complete duplication of the distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024141		Complete duplication of the outermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009965	Complete duplication of the distal phalanx of middle finger
HP:0009966	Complete duplication of the middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024140		Complete duplication of the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009966	Complete duplication of the middle phalanx of middle finger.
HP:0009967	Complete duplication of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4024139		Complete duplication of the innermost bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009967	Complete duplication of the third proximal phalanx of hand.
HP:0009968	Partial duplication of the distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021360		Notched outermost bone of the middle finger|Partial duplication of the outermost bone of the middle finger|Bifid terminal phalanx of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009968	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	biolink:PhenotypicFeature	hp	UMLS:C4024138		Partial duplication of the middle bone of the 3rd finger	http://purl.obolibrary.org/obo/HP_0009969	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	biolink:PhenotypicFeature	hp	UMLS:C4024137		Partial duplication of the proximal bone of the middle finger	http://purl.obolibrary.org/obo/HP_0009970	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	biolink:PhenotypicFeature	hp	UMLS:C4024136		Extra ring finger	http://purl.obolibrary.org/obo/HP_0009971	
HP:0009972	Duplication of phalanx of 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021359		Duplication of bones of the ring finger|Partial/complete duplication of phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0009972	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	biolink:PhenotypicFeature	hp	UMLS:C4024135		Complete duplication of the bones of the ring finger	http://purl.obolibrary.org/obo/HP_0009973	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	biolink:PhenotypicFeature	hp	UMLS:C4024134		Partial duplication of the bones of the ring finger	http://purl.obolibrary.org/obo/HP_0009974	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	biolink:PhenotypicFeature	hp	UMLS:C4021358		Partial/complete duplication of the outermost bone of the ring finger|Partial/complete duplication of the distal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009975	Partial or complete duplication of the distal phalanx of ring finger.
HP:0009976	Duplication of the middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021357		Partial/complete duplication of the middle bone of the ring finger|Partial/complete duplication of the middle phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009976	Partial or complete duplication of the middle phalanx of ring finger.
HP:0009977	Duplication of the proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021356		Duplication of the proximal bone of the ring finger|Partial/complete duplication of the proximal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009977	Partial or complete duplication of the fourth proximal phalanx of hand.
HP:0009978	Complete duplication of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024133		Complete duplication of the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009978	Complete duplication of the distal phalanx of ring finger.
HP:0009979	Complete duplication of the middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024132		Complete duplication of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009979	Complete duplication of the middle phalanx of ring finger.
HP:0009980	Complete duplication of the proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4024131		Complete duplication of the proximal bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009980	Complete duplication of the fourth proximal phalanx of hand.
HP:0009981	Partial duplication of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021355		Notched outermost bone of the ring finger|Partial duplication of the outermost bone of the ring finger|Bifid terminal phalanx of the 4th finger	http://purl.obolibrary.org/obo/HP_0009981	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	biolink:PhenotypicFeature	hp	UMLS:C4024130		Partial duplication of the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009982	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	biolink:PhenotypicFeature	hp	UMLS:C4024129		Partial duplication of the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0009983	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	biolink:PhenotypicFeature	hp	UMLS:C4021354		Partial/complete duplication of little finger bone|Partial/complete duplication of pinkie finger bone|Partial/complete duplication of pinky finger bone|Partial/complete duplication of phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0009985	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	biolink:PhenotypicFeature	hp	UMLS:C4024128		Complete duplication of the little finger bone|Complete duplication of the pinkie finger bone|Complete duplication of the pinky finger bone	http://purl.obolibrary.org/obo/HP_0009986	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	biolink:PhenotypicFeature	hp	UMLS:C4024127		Partial duplication of the little finger bone|Partial duplication of the pinkie finger bone|Partial duplication of the pinky finger bone	http://purl.obolibrary.org/obo/HP_0009987	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	biolink:PhenotypicFeature	hp	UMLS:C4021353		Duplication of the outermost little finger bone|Duplication of the outermost pinkie finger bone|Duplication of the outermost pinky finger bone|Partial/complete duplication of the distal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009988	Partial or complete duplication of the distal phalanx of little finger.
HP:0009989	Duplication of the middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021352		Duplication of the middle little finger bone|Duplication of the middle pinkie finger bone|Duplication of the middle pinky finger bone|Partial/complete duplication of the middle phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009989	Partial or complete duplication of the fifth middle phalanx of hand.
HP:0009990	Duplication of the proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021351		Duplication of the innermost little finger bone|Duplication of the innermost pinkie finger bone|Duplication of the innermost pinky finger bone|Partial/complete duplication of the proximal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009990	Partial or complete duplication of the fifth proximal phalanx of hand.
HP:0009991	Complete duplication of the distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024126		Complete duplication of the outermost little finger bone|Complete duplication of the outermost pinkie finger bone|Complete duplication of the outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009991	Complete duplication of the distal phalanx of little finger.
HP:0009992	Complete duplication of the middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024125		Complete duplication of the middle little finger bone|Complete duplication of the middle pinkie finger bone|Complete duplication of the middle pinky finger bone	http://purl.obolibrary.org/obo/HP_0009992	Complete duplication of the fifth middle phalanx of hand.
HP:0009993	Complete duplication of the proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4024124		Complete duplication of the innermost little finger bone|Complete duplication of the innermost pinkie finger bone|Complete duplication of the innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009993	Complete duplication of the fifth proximal phalanx of hand.
HP:0009994	Partial duplication of the distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021350		Notched outermost pinky finger bone|Partial duplication of outermost little finger bone|Partial duplication of outermost pinkie finger bone|Partial duplication of outermost pinky finger bone|Bifid terminal phalanx of the 5th finger	http://purl.obolibrary.org/obo/HP_0009994	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	biolink:PhenotypicFeature	hp	UMLS:C4024123		Partial duplication of the middle little finger bone|Partial duplication of the middle pinkie finger bone|Partial duplication of the middle pinky finger bone	http://purl.obolibrary.org/obo/HP_0009995	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	biolink:PhenotypicFeature	hp	UMLS:C4024122		Partial duplication of the innermost little finger bone|Partial duplication of the innermost pinkie finger bone|Partial duplication of the innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0009996	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	biolink:PhenotypicFeature	hp	UMLS:C4021349		Duplication of finger bones	http://purl.obolibrary.org/obo/HP_0009997	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	biolink:PhenotypicFeature	hp	UMLS:C4024121		Complete duplication of hand bones	http://purl.obolibrary.org/obo/HP_0009998	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	biolink:PhenotypicFeature	hp	UMLS:C4024120		Partial duplication of hand bones	http://purl.obolibrary.org/obo/HP_0009999	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	biolink:PhenotypicFeature	hp	UMLS:C4024119		Complete duplication of the innermost bones of the hand	http://purl.obolibrary.org/obo/HP_0010000	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	biolink:PhenotypicFeature	hp	UMLS:C4024118		Complete duplication of the outermost bones of the hand	http://purl.obolibrary.org/obo/HP_0010001	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	biolink:PhenotypicFeature	hp	UMLS:C4024117		Complete duplication of the middle bones of the hand	http://purl.obolibrary.org/obo/HP_0010002	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	biolink:PhenotypicFeature	hp	UMLS:C4024116		Partial duplication of the innermost bones of the hand	http://purl.obolibrary.org/obo/HP_0010003	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	biolink:PhenotypicFeature	hp	UMLS:C4021348		Partial duplication of the outermost bone of the hand|Bifid terminal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010004	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	biolink:PhenotypicFeature	hp	UMLS:C4024115		Partial duplication of the middle bones of hand	http://purl.obolibrary.org/obo/HP_0010005	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	biolink:PhenotypicFeature	hp	UMLS:C4021347		Duplication of the innermost bones of hand|Partial/complete duplication of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010006	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	biolink:PhenotypicFeature	hp	UMLS:C4021346		Duplication of the middle bones of hand|Partial/complete duplication of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010008	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	Abnormality of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024114		Abnormality of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010009	A structural anomaly of the first metacarpal.
HP:0010010	Abnormality of the 2nd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024113		Abnormality of the 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010010	Any abnormality of the second metacarpal bone.
HP:0010011	Abnormality of the 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024112		Abnormality of the 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010011	Any abnormality of the third metacarpal bone.
HP:0010012	Abnormality of the 4th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024111		Abnormality of the 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010012	Any abnormality of the fourth metacarpal bone.
HP:0010013	Abnormality of the 5th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024110		Abnormality of the 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0010013	Any abnormality of the fifth metacarpal bone.
HP:0010014	Abnormality of the epiphysis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024109		Abnormality of the end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010014	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	biolink:PhenotypicFeature	hp	UMLS:C4024108		Absent end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010015	
HP:0010016	Bracket epiphysis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024107		Bracket shaped end part of 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010016	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	biolink:PhenotypicFeature	hp	UMLS:C4024106		Cone-shaped end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010017	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	biolink:PhenotypicFeature	hp	UMLS:C4024105		Enlarged end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010018	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	biolink:PhenotypicFeature	hp	UMLS:C4024104		Fragmentation of the end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010019	Epiphysis of the 1st metacarpal having multiple bony fragments.
HP:0010020	Irregular epiphysis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024103		Irregular end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010020	Uneven radiographic opacity of the epiphysis of the 1st metacarpal.
HP:0010021	Ivory epiphysis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024102		Increased bone density of end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010021	The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0010022	Pseudoepiphysis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024101			http://purl.obolibrary.org/obo/HP_0010022	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	biolink:PhenotypicFeature	hp	UMLS:C4024100		Small end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010023	Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.
HP:0010024	Epiphyseal stippling of the first metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4021345		Speckled calcifications in the end part of the first long bone of hand|Stippling of the epiphysis of the 1st metacarpal	http://purl.obolibrary.org/obo/HP_0010024	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	biolink:PhenotypicFeature	hp	UMLS:C4024099		Triangular end part of the 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010025	
HP:0010026	Aplasia/Hypoplasia of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024098		Absent/small 1st long bone of hand|Absent/underdeveloped 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010026	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	biolink:PhenotypicFeature	hp	UMLS:C4024097		Wide 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010027	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	biolink:PhenotypicFeature	hp	UMLS:C4024096		Bullet-shaped 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010028	The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").
HP:0010029	Curved 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024095		Curved 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010029	A deviation from the normal straight shape of the first metacarpal.
HP:0010030	Osteolytic defects of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024094			http://purl.obolibrary.org/obo/HP_0010030	Dissolution or degeneration of bone tissue of the 1st metacarpal.
HP:0010031	Patchy sclerosis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024093		Uneven increase in bone density in 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010031	Uneven increase in bone density within the 1st metacarpal.
HP:0010033	Triangular shaped 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024092		Triangular shaped 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0010033	This term applies to a triangular shaped 1st metacarpal.
HP:0010034	Short 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1849311	hposlim_core	Shortened 1st long bone of hand|First metacarpal hypoplasia|First metacarpals hypoplastic|Hypoplastic 1st metacarpal|Short first metacarpal|Short first metacarpals	http://purl.obolibrary.org/obo/HP_0010034	A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
HP:0010035	Aplasia of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1838610		Absent 1st long bone of hand|Absent first metacarpal	http://purl.obolibrary.org/obo/HP_0010035	Absent first metacarpal (long bone) of the hand.
HP:0010036	Aplasia/Hypoplasia of the 2nd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024091		Absent/small 2nd long bone of hand|Absent/underdeveloped 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010036	Aplasia or Hypoplasia affecting the 2nd metacarpal.
HP:0010037	Aplasia of the 2nd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024090		Absent 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010037	Absence of the second long bone of the hand.
HP:0010038	Short 2nd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1969397|UMLS:C4020774		Shortened 2nd long bone of hand|Rudimentary 2nd metacarpal|Hypoplastic 2nd metacarpal	http://purl.obolibrary.org/obo/HP_0010038	Short second metacarpal bone because of developmental hypoplasia.
HP:0010039	Aplasia/Hypoplasia of the 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024089		Absent/small 3rd long bone of hand|Absent/underdeveloped 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010039	Aplasia or Hypoplasia affecting the 3rd metacarpal.
HP:0010040	Aplasia of the 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024088		Absent 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010040	Absence of the third long bone of the hand.
HP:0010041	Short 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1850631		Shortened 3rd long bone of hand|Hypoplastic 3rd metacarpal|Short third metacarpals|Small 3rd metacarpals	http://purl.obolibrary.org/obo/HP_0010041	Short third metacarpal bone.
HP:0010042	Aplasia/Hypoplasia of the 4th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024087		Absent/small 4th long bone of hand|Absent/underdeveloped 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010042	Aplasia or Hypoplasia affecting the 4th metacarpal.
HP:0010043	Aplasia of the 4th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024086		Absent 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010043	Absence of the fourth long bone of the hand.
HP:0010044	Short 4th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1840309		Shortened 4th long bone of hand|Hypoplastic fourth metacarpal|Short 4th metacarpals|Short fourth metacarpals	http://purl.obolibrary.org/obo/HP_0010044	Short fourth metacarpal bone.
HP:0010045	Aplasia/Hypoplasia of the 5th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4024085		Absent/small 5th long bone of hand|Absent/underdeveloped 5th long bone of hand	http://purl.obolibrary.org/obo/HP_0010045	Aplasia or Hypoplasia affecting the 5th metacarpal.
HP:0010046	Aplasia of the 5th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1867929		Absent 5th long bone of hand|Absent 5th metacarpal	http://purl.obolibrary.org/obo/HP_0010046	Absence of the fifth long bone of the hand.
HP:0010047	Short 5th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1861388		Shortened 5th long bone of hand|Fifth metacarpal hypoplasia|Hypoplastic 5th metacarpal|Short fifth metacarpal|Short fifth metacarpals	http://purl.obolibrary.org/obo/HP_0010047	Short fifth metacarpal bone.
HP:0010048	Aplasia of metacarpal bones	biolink:PhenotypicFeature	hp	UMLS:C1846473	hposlim_core	Absent long bone of hand|Absent metacarpal|Absent metacarpals	http://purl.obolibrary.org/obo/HP_0010048	Developmental defect associated with absence of one or more metacarpal bones.
HP:0010049	Short metacarpal	biolink:PhenotypicFeature	hp	UMLS:C1837084	hposlim_core	Shortened long bone of hand|Brachymetacarpalia|Hypoplastic metacarpal|Metacarpal hypoplasia|Short metacarpals|Shortened long bones of hand|Shortened metacarpals|Shortening of metacarpals|Short metacarpal bones	http://purl.obolibrary.org/obo/HP_0010049	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	biolink:PhenotypicFeature	hp	UMLS:C4021344		Displacement of big toe|Displacement of the hallux	http://purl.obolibrary.org/obo/HP_0010051	Displacement of the big toe from its normal position.
HP:0010052	Abnormal morphology of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024084		Abnormal innermost big toe bone|Abnormality of the proximal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010052	An abnormal shape or form of the proximal phalanx of the big toe.
HP:0010053	Abnormality of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024083		Abnormality of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010053	
HP:0010054	Abnormality of the first metatarsal bone	biolink:PhenotypicFeature	hp	UMLS:C4024082		Abnormality of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010054	An anomaly of the first metatarsal bone.
HP:0010055	Broad hallux	biolink:PhenotypicFeature	hp	UMLS:C1867131	hposlim_core	Broad big toe|Wide big toe|Abnormally broad great toes|Broad great toe|Broad great toes|Broad halluces	http://purl.obolibrary.org/obo/HP_0010055	Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
HP:0010056	Abnormality of the epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024081		Abnormality of the end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010056	
HP:0010057	Abnormality of the phalanges of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024080		Abnormal big toe bones	http://purl.obolibrary.org/obo/HP_0010057	
HP:0010058	Aplasia/Hypoplasia of the phalanges of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024079		Absent/small big toe bone|Absent/underdeveloped big toe bone	http://purl.obolibrary.org/obo/HP_0010058	
HP:0010059	Broad hallux phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021343		Broad bone of big toe|Wide bone of big toe|Broad phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010059	An increase in width in one or more phalanges of the big toe.
HP:0010060	Bullet-shaped hallux phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021342		Bullet-shaped bone of big toe|Bullet-shaped phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010060	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	biolink:PhenotypicFeature	hp	UMLS:C4021341		Curve bones of big toe|Curved phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010061	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	biolink:PhenotypicFeature	hp	UMLS:C4024078			http://purl.obolibrary.org/obo/HP_0010062	
HP:0010063	Patchy sclerosis of hallux phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021340		Uneven increase in bone density in big toe bone|Patchy sclerosis of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010063	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	biolink:PhenotypicFeature	hp	UMLS:C1836216		Fused big toe bones|hallucal symphalangism	http://purl.obolibrary.org/obo/HP_0010064	
HP:0010065	Triangular shaped phalanges of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024077		Triangular shaped bones of big toe	http://purl.obolibrary.org/obo/HP_0010065	
HP:0010066	Duplication of phalanx of hallux	biolink:PhenotypicFeature	hp	UMLS:C1860164|UMLS:C4020691		Duplication of big toe bone|Duplication of great toes|Duplicated hallux|Duplication of phalanx of big toe|Hallucal duplication|Partial/complete duplication of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010066	Partial or complete duplication of one or more phalanx of big toe.
HP:0010067	Aplasia/hypoplasia of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024076		Absent/small 1st long bone of foot|Absent/underdeveloped 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010067	Absence or underdevelopment of the first metatarsal bone.
HP:0010068	Broad first metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1855899		Wide 1st long bone of foot|Broad 1st metatarsal|Enlarged first metatarsal	http://purl.obolibrary.org/obo/HP_0010068	Increased side-to-side width of the first metatarsal bone.
HP:0010069	Bullet-shaped 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024075		Bullet-shaped 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010069	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	biolink:PhenotypicFeature	hp	UMLS:C4024074		Curved 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010070	A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.
HP:0010071	Osteolytic defects of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024073			http://purl.obolibrary.org/obo/HP_0010071	Dissolution or degeneration of bone tissue of the first metatarsal.
HP:0010072	Patchy sclerosis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024072		Uneven increase in bone density of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010072	
HP:0010073	Synostosis involving the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024071		Fusion involving the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010073	
HP:0010074	Triangular shaped 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024070		Triangular shaped 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010074	
HP:0010075	Duplication of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1851855		Duplicated 1st long bone of foot|Duplicated first metatarsals	http://purl.obolibrary.org/obo/HP_0010075	A developmental defect consisting in the duplication of the first metatarsal bone.
HP:0010076	Aplasia/Hypoplasia of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024069		Absent/small outermost big toe bone|Absent/underdeveloped outermost big toe bone	http://purl.obolibrary.org/obo/HP_0010076	
HP:0010077	Broad distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024068		Broad outermost bone of big toe|Wide outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010077	An increase in width of the distal phalanx of the big toe.
HP:0010078	Bullet-shaped distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024067		Bullet-shaped outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010078	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	biolink:PhenotypicFeature	hp	UMLS:C4024066		Curved outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010079	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	biolink:PhenotypicFeature	hp	UMLS:C4024065			http://purl.obolibrary.org/obo/HP_0010080	
HP:0010081	Patchy sclerosis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024064		Uneven increase in bone density in the outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010081	
HP:0010082	Symphalangism affecting the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024063		Fused outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010082	
HP:0010083	Triangular shaped distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024062		Triangular shaped outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010083	
HP:0010084	Duplication of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021339		Duplication of the outermost bone of big toe|Partial/complete duplication of the distal phalanx of the hallux	http://purl.obolibrary.org/obo/HP_0010084	
HP:0010085	Aplasia/Hypoplasia of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024061		Absent/small innermost big toe bone|Absent/underdeveloped innermost big toe bone	http://purl.obolibrary.org/obo/HP_0010085	
HP:0010086	Broad proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021338		Broad innermost bone of the big toe|Broad proximal phalanx of the big toe	http://purl.obolibrary.org/obo/HP_0010086	Increased width of proximal phalanx of big toe.
HP:0010087	Bullet-shaped proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024060		Bullet-shaped innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010087	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	biolink:PhenotypicFeature	hp	UMLS:C4024059		Curved innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010088	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	biolink:PhenotypicFeature	hp	UMLS:C4024058			http://purl.obolibrary.org/obo/HP_0010089	
HP:0010090	Patchy sclerosis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024057		Uneven increase in bone density in the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010090	
HP:0010091	Symphalangism affecting the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024056		Fused innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010091	
HP:0010092	Triangular shaped proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024055		Triangular shaped innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010092	
HP:0010093	Duplication of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024054		Duplication of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010093	Partial or complete duplication of the proximal phalanx of big toe.
HP:0010094	Complete duplication of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024053		Complete duplication of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010094	Complete duplication of the proximal phalanx of big toe.
HP:0010095	Partial duplication of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024052		Partial duplication of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010095	Partial duplication of the proximal phalanx of big toe.
HP:0010096	Complete duplication of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024051		Complete duplication of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010096	
HP:0010097	Partial duplication of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021337		Notched outermost bone of big toe|Partial duplication of the outermost bone of big toe|Bifid distal phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010097	
HP:0010098	Complete duplication of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024050		Complete duplication of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010098	A developmental defect consisting in the complete duplication of the first metatarsal bone.
HP:0010099	Partial duplication of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024049		Partial duplication of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010099	A developmental defect consisting in the duplication of part of the first metatarsal bone.
HP:0010100	Complete duplication of hallux phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021336		Complete duplication of big toe bones|Complete duplication of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0010100	Complete duplication of one or more phalanx of big toe.
HP:0010101	Partial duplication of the phalanges of the hallux	biolink:PhenotypicFeature	hp	UMLS:C1855005		Partial duplication of big toe|partial duplication of hallux	http://purl.obolibrary.org/obo/HP_0010101	
HP:0010102	Aplasia of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024048		Absent outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010102	
HP:0010103	Short distal phalanx of hallux	biolink:PhenotypicFeature	hp	UMLS:C4021335		Small outermost bone of big toe|Hypoplastic/small distal phalanx of the hallux|Small distal phalanx of big toe|Small distal phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010103	Underdevelopment (hypoplasia) of the distal phalanx of big toe.
HP:0010104	Absent first metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1863382		Absent 1st long bone of foot|Absent 1st metatarsal|Aplasia of the 1st metatarsal	http://purl.obolibrary.org/obo/HP_0010104	A developmental defect characterized by the absence of the first metatarsal bone.
HP:0010105	Short first metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1841688		Short 1st long bone of foot|First metatarsal hypoplasia|First metatarsals hypoplastic	http://purl.obolibrary.org/obo/HP_0010105	Short first metatarsal bone.
HP:0010106	Aplasia of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024047		Absent innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010106	
HP:0010107	Short proximal phalanx of hallux	biolink:PhenotypicFeature	hp	UMLS:C1862159		Short innermost big toe bone|Hypoplastic proximal phalanx of the hallux|Short proximal phalanges of halluces|Short proximal phalanx of halluces|Small proximal phalanx of big toe|Small proximal phalanx of hallux	http://purl.obolibrary.org/obo/HP_0010107	Underdevelopment (hypoplasia) of the proximal phalanx of big toe.
HP:0010109	Short hallux	biolink:PhenotypicFeature	hp	UMLS:C1865992		Short big toe|Hypoplastic big toes|Hypoplastic hallux|Short halluces|Small hallux	http://purl.obolibrary.org/obo/HP_0010109	Underdevelopment (hypoplasia) of the big toe.
HP:0010110	Aplasia of the phalanges of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024046		Absent bone of big toe	http://purl.obolibrary.org/obo/HP_0010110	
HP:0010111	Short phalanx of hallux	biolink:PhenotypicFeature	hp	UMLS:C4021334		Hypoplastic phalanges of the hallux|Short bone of big toe	http://purl.obolibrary.org/obo/HP_0010111	Underdevelopment (hypoplasia) of a phalanx of big toe.
HP:0010112	Mesoaxial foot polydactyly	biolink:PhenotypicFeature	hp	UMLS:C4021333	hposlim_core	Central polydactyly of feet	http://purl.obolibrary.org/obo/HP_0010112	The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
HP:0010113	Absent hallux epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4020906		Absent end part of big toe bone|Absent epiphyses of the hallux	http://purl.obolibrary.org/obo/HP_0010113	Failure to form (agenesis) of one or more epiphyses of the big toe.
HP:0010114	Bracket epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024045		Bracket shaped end part of big toe bone	http://purl.obolibrary.org/obo/HP_0010114	
HP:0010115	Cone-shaped epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024044		Cone-shaped end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010115	
HP:0010116	Enlarged epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024043		Enlarged end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010116	
HP:0010117	Fragmentation of the epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024042		Fragmentation of the end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010117	
HP:0010118	Irregular epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024041		Irregular end part of big toe bone	http://purl.obolibrary.org/obo/HP_0010118	
HP:0010119	Ivory epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024040		Increased bone density of end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010119	
HP:0010120	Pseudoepiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024039			http://purl.obolibrary.org/obo/HP_0010120	
HP:0010121	Small epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024038		Small end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010121	
HP:0010122	Stippling of the epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024037		Speckled calcifications in the end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010122	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.
HP:0010123	Triangular epiphyses of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024036		Triangular end part of the big toe bone	http://purl.obolibrary.org/obo/HP_0010123	
HP:0010124	Abnormality of the epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024035		Abnormality of the end part of the outermost bone of the big toe bone	http://purl.obolibrary.org/obo/HP_0010124	
HP:0010125	Abnormality of the epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024034		Abnormality of the end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010125	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	biolink:PhenotypicFeature	hp	UMLS:C4024033		Abnormality of the end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010126	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	biolink:PhenotypicFeature	hp	UMLS:C4024032		Absent end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010127	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	biolink:PhenotypicFeature	hp	UMLS:C4024031		Bracket shaped end part of the innermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010128	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	biolink:PhenotypicFeature	hp	UMLS:C4024030		Cone-shaped end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010129	
HP:0010130	Enlarged epiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024029		Enlarged end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010130	
HP:0010131	Fragmentation of the epiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024028		Fragmentation of the end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010131	
HP:0010132	Irregular epiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024027		Irregular end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010132	
HP:0010133	Ivory epiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024026		Increased bone density of end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010133	
HP:0010134	Pseudoepiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024025			http://purl.obolibrary.org/obo/HP_0010134	
HP:0010135	Small epiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024024		Small end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010135	
HP:0010136	Stippling of the epiphysis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024023		Speckled calcifications in the end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010136	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	biolink:PhenotypicFeature	hp	UMLS:C4024022		Triangular end part of the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010137	
HP:0010138	Absent epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024021		Absent end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010138	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	biolink:PhenotypicFeature	hp	UMLS:C4024020		Bracket shaped end part of the outermost bone of big toe	http://purl.obolibrary.org/obo/HP_0010139	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	biolink:PhenotypicFeature	hp	UMLS:C4024019		Cone-shaped end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010140	
HP:0010141	Enlarged epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024018		Enlarged end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010141	
HP:0010142	Fragmentation of the epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024017		Fragmentation of the end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010142	
HP:0010143	Irregular epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024016		Irregular end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010143	
HP:0010144	Ivory epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024015		Increased bone density of end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010144	
HP:0010145	Pseudoepiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024014			http://purl.obolibrary.org/obo/HP_0010145	
HP:0010146	Small epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024013		Small end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010146	
HP:0010147	Stippling of the epiphysis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4024012		Speckled calcifications in the end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010147	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	biolink:PhenotypicFeature	hp	UMLS:C4024011		Triangular end part of the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0010148	
HP:0010149	Absent epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024010		Absent end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010149	Failure to form (agenesis) of the epiphysis of the 1st metatarsal.
HP:0010150	Bracket epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024009		Bracket shaped end part of 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010150	The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.
HP:0010151	Cone-shaped epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024008		Cone-shaped end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010151	A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.
HP:0010152	Enlarged epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024007		Enlarged end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010152	
HP:0010153	Fragmentation of the epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024006		Fragmentation of the end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010153	
HP:0010154	Irregular epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024005		Irregular end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010154	
HP:0010155	Ivory epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024004		Increased bone density of end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010155	The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
HP:0010156	Pseudoepiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024003			http://purl.obolibrary.org/obo/HP_0010156	
HP:0010157	Small epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024002		Small end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010157	
HP:0010158	Stippling of the epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024001		Speckled calcifications in the end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010158	
HP:0010159	Triangular epiphysis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4024000		Triangular end part of the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0010159	
HP:0010160	Abnormality of the epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023999		Abnormality of the end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010160	
HP:0010161	Abnormality of the phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023998		Abnormality of the long bones of the toes	http://purl.obolibrary.org/obo/HP_0010161	
HP:0010162	Absent epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023997		Absent end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010162	Absence of the epiphyses of the phalanges of the toes.
HP:0010163	Bracket epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023996		Bracket shaped end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010163	
HP:0010164	Cone-shaped epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023995		Cone-shaped end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010164	
HP:0010165	Enlarged epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023994		Enlarged end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010165	
HP:0010166	Fragmentation of the epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023993		Fragmentation of the end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010166	
HP:0010167	Irregular epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023992		Irregular end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010167	
HP:0010168	Ivory epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023991		Increased bone density of end part of the toes	http://purl.obolibrary.org/obo/HP_0010168	
HP:0010169	Pseudoepiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023990			http://purl.obolibrary.org/obo/HP_0010169	
HP:0010170	Small epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023989		Small end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010170	
HP:0010171	Epiphyseal stippling of toe phalanges	biolink:PhenotypicFeature	hp	UMLS:C4021332		Speckled calcifications in long toe bones|Stippling of the epiphyses of the toes	http://purl.obolibrary.org/obo/HP_0010171	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.
HP:0010172	Triangular epiphyses of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023988		Triangular end part of the toe bones	http://purl.obolibrary.org/obo/HP_0010172	
HP:0010173	Aplasia/Hypoplasia of the phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023987		Absent/small toe bones|Absent/underdeveloped toe bones	http://purl.obolibrary.org/obo/HP_0010173	
HP:0010174	Broad phalanx of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023986		Wide toe bones	http://purl.obolibrary.org/obo/HP_0010174	Increased width of phalanx of one or more toes.
HP:0010175	Bullet-shaped toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021331		Bullet-shaped phalanges of the toes|Bullet-shaped toe bone	http://purl.obolibrary.org/obo/HP_0010175	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	biolink:PhenotypicFeature	hp	UMLS:C4021330		Curved toe bone|Curved phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010176	A deviation from the normal straight form of one or more toe phalanges.
HP:0010177	Osteolytic defects of the phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023985			http://purl.obolibrary.org/obo/HP_0010177	
HP:0010178	Patchy sclerosis of toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021329		Uneven increase in bone density in toe bone|Patchy sclerosis of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010178	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	biolink:PhenotypicFeature	hp	UMLS:C4023984		Fused toe bones	http://purl.obolibrary.org/obo/HP_0010179	
HP:0010180	Triangular shaped phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023983		Triangular shaped toe bones	http://purl.obolibrary.org/obo/HP_0010180	
HP:0010181	Duplication of phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021328		Duplicated toe bone|Partial/complete duplication of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010181	Partial/complete duplication of one or more phalanx of toe.
HP:0010182	Abnormality of the distal phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023982		Abnormality of the outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0010182	
HP:0010183	Abnormality of the middle phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023981		Abnormal middle bones of toe	http://purl.obolibrary.org/obo/HP_0010183	
HP:0010184	Abnormality of toe proximal phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021327		Abnormal innermost toe bone|Abnormality of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010184	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	biolink:PhenotypicFeature	hp	UMLS:C4020773|UMLS:C4021326		Absent/small outermost bones of toe|Absent/underdeveloped outermost bones of toe|Absent/hypoplastic terminal phalanges of toes|Hypoplasia/agenesis of distal phalanges of toes	http://purl.obolibrary.org/obo/HP_0010185	Absence or underdevelopment of the distal phalanges of the toes.
HP:0010186	Broad distal phalanx of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023980		Broad outermost bone of the toe|Wide outermost bone of the toe	http://purl.obolibrary.org/obo/HP_0010186	Increased width of the distal phalanx of toe of one or more toes.
HP:0010187	Bullet-shaped distal toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021325		Bullet-shaped outermost bone of the toe|Bullet-shaped distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010187	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	biolink:PhenotypicFeature	hp	UMLS:C4021324		Curved outermost bone of the toe|Curved distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010188	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	biolink:PhenotypicFeature	hp	UMLS:C4023979			http://purl.obolibrary.org/obo/HP_0010189	
HP:0010190	Patchy sclerosis of distal toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021323		Uneven increase in bone density in outermost toe bone|Patchy sclerosis of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010190	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	biolink:PhenotypicFeature	hp	UMLS:C4023978		Fused outermost bones of toes	http://purl.obolibrary.org/obo/HP_0010191	
HP:0010192	Triangular shaped distal phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023977		Triangular shaped outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0010192	
HP:0010193	Duplication of distal phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021322		Duplication of outermost bone of toe|Partial/complete duplication of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010193	A partial or complete duplication of one or more distal phalanx of toe.
HP:0010194	Aplasia/Hypoplasia of the middle phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023976		Absent/small middle bones of toe|Absent/underdeveloped middle bones of toe	http://purl.obolibrary.org/obo/HP_0010194	
HP:0010195	Broad middle phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023975		Broad middle bones of the toes	http://purl.obolibrary.org/obo/HP_0010195	
HP:0010196	Bullet-shaped middle toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021321		Bullet-shaped middle bones of the toes|Bullet-shaped middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010196	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	biolink:PhenotypicFeature	hp	UMLS:C4021320		Curved middle bones of the toes|Curved middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010197	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	biolink:PhenotypicFeature	hp	UMLS:C4023974			http://purl.obolibrary.org/obo/HP_0010198	
HP:0010199	Patchy sclerosis of middle toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021319		Uneven increase in bone density in middle toe bone|Patchy sclerosis of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010199	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	biolink:PhenotypicFeature	hp	UMLS:C4023973		Fused middle bones of toes	http://purl.obolibrary.org/obo/HP_0010200	
HP:0010201	Triangular shaped middle phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023972		Triangular shaped middle bones of toes	http://purl.obolibrary.org/obo/HP_0010201	
HP:0010202	Duplication of middle phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021318		Partial/complete duplication of the middle bones of the toes|Partial/complete duplication of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010202	Partial or complete duplication of a middle phalanx of toe.
HP:0010203	Aplasia/hypoplasia of proximal toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021317		Absent/small innermost toe bones|Absent/underdeveloped innermost toe bones|Aplasia/Hypoplasia of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010203	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes.
HP:0010204	Broad proximal phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4023971		Broad innermost toe bone	http://purl.obolibrary.org/obo/HP_0010204	An increase in width of one ore more proximal toe phalanges.
HP:0010205	Bullet-shaped proximal toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021316		Bullet-shaped innermost toe bone|Bullet-shaped proximal phalanges of the toes|Bullet-shaped proximal phalanges of toe	http://purl.obolibrary.org/obo/HP_0010205	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	biolink:PhenotypicFeature	hp	UMLS:C4021315		Curved innermost toe bones|Curved proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010206	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	biolink:PhenotypicFeature	hp	UMLS:C4021314		Osteolytic defects of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010207	Dissolution or degeneration of bone tissue of the proximal toe phalanx.
HP:0010208	Patchy sclerosis of proximal toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021313		Uneven increase in bone density in innermost toe bone|Patchy sclerosis of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010208	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	biolink:PhenotypicFeature	hp	UMLS:C4023970		Fused innermost bones of toes	http://purl.obolibrary.org/obo/HP_0010209	
HP:0010210	Triangular shaped proximal phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023969		Triangular shaped innermost toe bones	http://purl.obolibrary.org/obo/HP_0010210	
HP:0010211	Duplication of proximal phalanx of toe	biolink:PhenotypicFeature	hp	UMLS:C4021312		Duplication of innermost toe bones|Partial/complete duplication of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0010211	Partial/complete duplication of a proximal phalanx of toe.
HP:0010212	Flexion contracture of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021311		Joint contracture of the big toe|Joint contracture of the hallux	http://purl.obolibrary.org/obo/HP_0010212	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	biolink:PhenotypicFeature	hp	UMLS:C4023968			http://purl.obolibrary.org/obo/HP_0010213	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	biolink:PhenotypicFeature	hp	UMLS:C4023967			http://purl.obolibrary.org/obo/HP_0010214	The interphalangeal joint of the big toe cannot be straightened actively or passively.
HP:0010215	Contractures of the metatarsophalangeal joint of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4023966			http://purl.obolibrary.org/obo/HP_0010215	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	biolink:PhenotypicFeature	hp	UMLS:C4023965			http://purl.obolibrary.org/obo/HP_0010219	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	biolink:PhenotypicFeature	hp	UMLS:C4023964		Abnormality of the end part of the 2nd long bone of hand	http://purl.obolibrary.org/obo/HP_0010220	Any abnormality of the epiphysis of the second metacarpal bone.
HP:0010221	obsolete Pseudoepiphysis of the 2nd metacarpal	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0010221	
HP:0010222	Abnormality of the epiphysis of the 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4023962		Abnormality of the end part of the 3rd long bone of hand	http://purl.obolibrary.org/obo/HP_0010222	Any abnormality of the epiphysis of the third metacarpal bone.
HP:0010223	Pseudoepiphysis of the 3rd metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4023961			http://purl.obolibrary.org/obo/HP_0010223	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	biolink:PhenotypicFeature	hp	UMLS:C4023960		Abnormality of the end part of the 4th long bone of hand	http://purl.obolibrary.org/obo/HP_0010224	Any abnormality of the epiphysis of the 4th metacarpal bone.
HP:0010225	Pseudoepiphysis of the 4th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4023959			http://purl.obolibrary.org/obo/HP_0010225	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	biolink:PhenotypicFeature	hp	UMLS:C4023958		Abnormality of the end part of the long bone of little finger|Abnormality of the end part of the long bone of pinkie finger|Abnormality of the end part of the long bone of pinky finger	http://purl.obolibrary.org/obo/HP_0010226	Any abnormality of the epiphysis of the fifth metacarpal bone.
HP:0010227	Pseudoepiphysis of the 5th metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4023957			http://purl.obolibrary.org/obo/HP_0010227	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	biolink:PhenotypicFeature	hp	UMLS:C4021310		Absent end part of fingers|Absent epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010228	Absence of one or more epiphyses of the phalanges of the fingers.
HP:0010229	Bracket epiphyses of the phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021309		Bracket shaped end part of finger bones|Bracket epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010229	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	biolink:PhenotypicFeature	hp	UMLS:C1859480		Cone-shaped end part of finger bones|Cone-shaped epiphyses of hand|Cone-shaped epiphyses of phalanges|Cone-shaped epiphyses of the fingers|Cone-shaped phalangeal epiphyses|Coned epiphyses|Coned epiphyses of hands|Conical phalangeal epiphyses|Phalangeal cone-shaped epiphyses	http://purl.obolibrary.org/obo/HP_0010230	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	biolink:PhenotypicFeature	hp	UMLS:C1865036		Enlarged end part of finger bones|Enlarged epiphyses of the fingers|Enlarged phalangeal epiphyses	http://purl.obolibrary.org/obo/HP_0010231	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	biolink:PhenotypicFeature	hp	UMLS:C4021308		Fragmentation of end part of finger bones|Fragmentation of the epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010232	Fragmented appearance of the epiphyses of the phalanges of the fingers.
HP:0010233	Irregular epiphyses of the phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021307		Irregular end part of finger bones|Irregular epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010233	Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.
HP:0010234	Ivory epiphyses of the phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C1857651		Increased bone density of end part of the hand bones|Ivory epiphyses of the fingers|Sclerotic ivory phalangeal epiphyses	http://purl.obolibrary.org/obo/HP_0010234	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	biolink:PhenotypicFeature	hp	UMLS:C4021306		Pseudoepiphysis of the fingers	http://purl.obolibrary.org/obo/HP_0010235	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	biolink:PhenotypicFeature	hp	UMLS:C4021305		Small end part of finger bones|Small epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010236	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	biolink:PhenotypicFeature	hp	UMLS:C4021304		Speckled calcifications in end part of finger bones|Stippling of the epiphyses of the fingers|Stippling of the epiphyses of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0010237	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	biolink:PhenotypicFeature	hp	UMLS:C4021303		Triangular end part of finger bones|Delta-shaped epiphyses of the fingers|Triangular epiphyses of the fingers	http://purl.obolibrary.org/obo/HP_0010238	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	biolink:PhenotypicFeature	hp	UMLS:C1862096		Absent middle bones of hand|Absent middle phalanges|Missing middle phalanges	http://purl.obolibrary.org/obo/HP_0010239	Absence of one or more middle phalanx of a finger.
HP:0010241	Short proximal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C1860606		Short innermost finger bones|Short proximal phalanx of finger|Hypoplasia of the proximal phalanges of the hand|Short proximal phalanges|Shortening in proximal phalanges	http://purl.obolibrary.org/obo/HP_0010241	Congenital hypoplasia of one or more proximal phalanx of finger.
HP:0010242	Aplasia of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021302		Absent innermost bones|Absent proximal phalanges	http://purl.obolibrary.org/obo/HP_0010242	
HP:0010243	Abnormality of the epiphyses of the distal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4023956		Abnormality of the end part of the outermost bone of finger	http://purl.obolibrary.org/obo/HP_0010243	Any anomaly of distal epiphysis of phalanx of finger.
HP:0010244	Abnormality of the epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023955		Abnormality of the end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010244	
HP:0010245	Abnormality of the epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023954		Abnormality of the end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010245	
HP:0010246	Absent epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023953		Absent end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010246	
HP:0010247	Bracket epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023952		Bracket shaped end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010247	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	biolink:PhenotypicFeature	hp	UMLS:C4023951		Cone-shaped end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010248	
HP:0010249	Enlarged epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023950		Enlarged end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010249	
HP:0010250	Fragmentation of the epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023949		Fragmentation of the end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010250	
HP:0010251	Irregular epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023948		Irregular end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010251	
HP:0010252	Ivory epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4021301		Increased bone density of end part of the outermost hand bones|Eburnated epiphyses of distal phalanges	http://purl.obolibrary.org/obo/HP_0010252	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	biolink:PhenotypicFeature	hp	UMLS:C4023947			http://purl.obolibrary.org/obo/HP_0010253	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	biolink:PhenotypicFeature	hp	UMLS:C4023946		Small end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010254	
HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023945		Speckled calcifications in the end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010255	
HP:0010256	Triangular epiphyses of the distal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023944		Triangular end part of the outermost hand bones	http://purl.obolibrary.org/obo/HP_0010256	
HP:0010257	Absent epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023943		Absent end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010257	
HP:0010258	Bracket epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023942		Bracket shaped end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010258	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	biolink:PhenotypicFeature	hp	UMLS:C1860828		Cone-shaped end part of the middle hand bones|Cone-shaped epiphyses of middle phalanges	http://purl.obolibrary.org/obo/HP_0010259	
HP:0010260	Enlarged epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023941		Enlarged end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010260	
HP:0010261	Fragmentation of the epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023940		Fragmentation of the end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010261	Fragmented appearance of the epiphyses of the middle phalanges of the hand.
HP:0010262	Irregular epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023939		Irregular end part of middle hand bones	http://purl.obolibrary.org/obo/HP_0010262	
HP:0010263	Ivory epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023938		Increased bone density of end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010263	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	biolink:PhenotypicFeature	hp	UMLS:C4023937			http://purl.obolibrary.org/obo/HP_0010264	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	biolink:PhenotypicFeature	hp	UMLS:C4023936		Small end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010265	
HP:0010266	Stippling of the epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023935		Speckled calcifications in the end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010266	
HP:0010267	Triangular epiphyses of the middle phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023934		Triangular end part of the middle hand bones	http://purl.obolibrary.org/obo/HP_0010267	
HP:0010268	Absent epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023933		Absent end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010268	
HP:0010269	Bracket epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023932		Bracket shaped end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010269	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	biolink:PhenotypicFeature	hp	UMLS:C4023931		Cone-shaped end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010270	
HP:0010271	Enlarged epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023930		Enlarged end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010271	
HP:0010272	Fragmentation of the epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023929		Fragmentation of the end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010272	
HP:0010273	Irregular epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023928		Irregular end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010273	
HP:0010274	Ivory epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023927		Increased bone density of end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010274	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	biolink:PhenotypicFeature	hp	UMLS:C4023926			http://purl.obolibrary.org/obo/HP_0010275	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	biolink:PhenotypicFeature	hp	UMLS:C4023925		Small end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010276	
HP:0010277	Stippling of the epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023924		Speckled calcifications in the end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010277	
HP:0010278	Triangular epiphyses of the proximal phalanges of the hand	biolink:PhenotypicFeature	hp	UMLS:C4023923		Triangular end part of the innermost hand bones	http://purl.obolibrary.org/obo/HP_0010278	
HP:0010280	Stomatitis	biolink:PhenotypicFeature	hp	MSH:D013280|SNOMEDCT_US:20607006|SNOMEDCT_US:61170000|UMLS:C0038362|UMLS:C0149704	hposlim_core	Inflammation of the mouth|Gingivostomatitis	http://purl.obolibrary.org/obo/HP_0010280	Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
HP:0010281	Cleft lower lip	biolink:PhenotypicFeature	hp	UMLS:C1856026	hposlim_core	Cleft lower lip|Cleft of the lower lip|Lower labial cleft	http://purl.obolibrary.org/obo/HP_0010281	A gap in the lower lip.
HP:0010282	Thin lower lip vermilion	biolink:PhenotypicFeature	hp	UMLS:C2053440		Decreased volume of lower lip|Thin lower lip|Thin red part of the lower lip|Decreased height of lower lip vermilion|Decreased volume of lower lip vermilion|Thin vermilion border of lower lip	http://purl.obolibrary.org/obo/HP_0010282	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235038002|UMLS:C0399483|UMLS:C0877541|UMLS:C4280387|UMLS:C4280388|UMLS:C4280389	hposlim_core	Dark color of gums|Pigmented gums|Hyperpigmentation of oral mucosa|Oral mucosa melanin pigmentation|Oral racial pigmentation|Gingival hyperpigmentation|Gingival melanin pigmentation	http://purl.obolibrary.org/obo/HP_0010284	Increased pigmentation, either focal or generalized, of the mucosa of the mouth.
HP:0010285	Oral synechia	biolink:PhenotypicFeature	hp	UMLS:C4023921	hposlim_core	Oral fibrous bands|Synechiae of the mouth	http://purl.obolibrary.org/obo/HP_0010285	Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.
HP:0010286	Abnormal salivary gland morphology	biolink:PhenotypicFeature	hp	MSH:D012466|SNOMEDCT_US:10890000|UMLS:C0036093|UMLS:C0149772	hposlim_core	Abnormality of the salivary glands|Salivary gland disease	http://purl.obolibrary.org/obo/HP_0010286	Any abnormality of the salivary glands, the exocrine glands that produce saliva.
HP:0010287	Abnormality of the submandibular glands	biolink:PhenotypicFeature	hp	UMLS:C4023920		Abnormality of the submaxillary glands	http://purl.obolibrary.org/obo/HP_0010287	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	biolink:PhenotypicFeature	hp	UMLS:C4023919			http://purl.obolibrary.org/obo/HP_0010288	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 of alveolar ridge of maxilla	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445306000|UMLS:C1398533|UMLS:C2919907|UMLS:C4280386	hposlim_core	Cleft of gum ridge|Notch of gum ridge|Alveolar ridge cleft|Notch of alveolar ridge|Cleft of alveolar process|Notch of alveolar process	http://purl.obolibrary.org/obo/HP_0010289	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.
HP:0010290	Short hard palate	biolink:PhenotypicFeature	hp	UMLS:C1398301|UMLS:C4020772|UMLS:C4023918		Decreased length of hard palate|Hypoplastic palate|Short palate	http://purl.obolibrary.org/obo/HP_0010290	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	biolink:PhenotypicFeature	hp	UMLS:C4021300	hposlim_core	Large lateral palatal folds|Large lateral palatal ridges|Prominent lateral palatal folds|Prominent lateral palatal ridges|Prominent palatine folds	http://purl.obolibrary.org/obo/HP_0010291	Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.
HP:0010292	Absent uvula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25148007|UMLS:C0266121	hposlim_core	Absent palatine uvula|Congenital absence of uvula|Missing uvula|Uvula aplasia|Agenesis of uvula	http://purl.obolibrary.org/obo/HP_0010292	Lack of the uvula.
HP:0010293	Aplasia/Hypoplasia of the uvula	biolink:PhenotypicFeature	hp	UMLS:C4023917		Aplasia/hypoplasia of palatine uvula	http://purl.obolibrary.org/obo/HP_0010293	Underdevelopment or absence of the uvula.
HP:0010294	Palate fistula	biolink:PhenotypicFeature	hp	UMLS:C2032780|UMLS:C4280385		Hole in roof of mouth|Palatal hole|Palatal perforation	http://purl.obolibrary.org/obo/HP_0010294	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	biolink:PhenotypicFeature	hp	UMLS:C4023916|UMLS:C4280384		Lingual aplasia/hypoplasia	http://purl.obolibrary.org/obo/HP_0010295	Absence or underdevelopment of the tongue.
HP:0010296	Ankyloglossia	biolink:PhenotypicFeature	hp	MSH:D000072676|SNOMEDCT_US:67787004|UMLS:C0152415		Tongue tied|Tongue tie	http://purl.obolibrary.org/obo/HP_0010296	Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
HP:0010297	Bifid tongue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:84557007|UMLS:C0266111|UMLS:C4255098	hposlim_core	Cleft tongue|Forked tongue|Split tongue|Snake tongue|Bifurcated tongue|Bilobed tongue	http://purl.obolibrary.org/obo/HP_0010297	Tongue with a median apical indentation or fork.
HP:0010298	Smooth tongue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9491003|UMLS:C0155964|UMLS:C4280381|UMLS:C4280382|UMLS:C4280383	hposlim_core	Smooth surface of tongue|Smooth tongue|Smooth lingual surface|Smooth dorsum of tongue|Atrophy of dorsum of tongue|Atrophy of lingual surface|Atrophy of tongue surface	http://purl.obolibrary.org/obo/HP_0010298	Glossy appearance of the entire tongue surface.
HP:0010299	Abnormality of dentin	biolink:PhenotypicFeature	hp	UMLS:C4021299	hposlim_core	Abnormal dentin|Abnormality of dentin|Abnormality of dentine	http://purl.obolibrary.org/obo/HP_0010299	Any abnormality of dentin.
HP:0010300	Abnormally low-pitched voice	biolink:PhenotypicFeature	hp	UMLS:C4023915			http://purl.obolibrary.org/obo/HP_0010300	An abnormally low-pitched voice.
HP:0010301	Spinal dysraphism	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:253098009|UMLS:C0027794		Incomplete closure of the vertebral arch	http://purl.obolibrary.org/obo/HP_0010301	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	biolink:PhenotypicFeature	hp	MSH:D013120|NCIT:C3262|SNOMEDCT_US:126962006|UMLS:C0037930		Spinal cord tumor|Tumor of the spinal cord|Spinal cord tumour|Spinal tumor|Spinal tumors	http://purl.obolibrary.org/obo/HP_0010302	A neoplasm affecting the spinal cord.
HP:0010303	Abnormal spinal meningeal morphology	biolink:PhenotypicFeature	hp	UMLS:C4023914		Abnormality of the spinal meninges	http://purl.obolibrary.org/obo/HP_0010303	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	biolink:PhenotypicFeature	hp	UMLS:C4023913			http://purl.obolibrary.org/obo/HP_0010304	An outpouching of the spinal meninges.
HP:0010305	Absence of the sacrum	biolink:PhenotypicFeature	hp	MSH:C537221|SNOMEDCT_US:205425003|UMLS:C0344490	hposlim_core	Sacrococcygeal agenesis|Absent sacrum|Sacral agenesis	http://purl.obolibrary.org/obo/HP_0010305	Absence (aplasia) of the sacrum.
HP:0010306	Short thorax	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249670005|UMLS:C0426789		Shorter than typical length between neck and abdomen	http://purl.obolibrary.org/obo/HP_0010306	Reduced inferior to superior extent of the thorax.
HP:0010307	Stridor	biolink:PhenotypicFeature	hp	MSH:D012135|SNOMEDCT_US:248573009|SNOMEDCT_US:70407001|UMLS:C0038450|UMLS:C0237304		Noisy breathing	http://purl.obolibrary.org/obo/HP_0010307	Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
HP:0010308	Asternia	biolink:PhenotypicFeature	hp	UMLS:C4023912		Aplasia of the sternum|Breast bone aplasia	http://purl.obolibrary.org/obo/HP_0010308	The congenital absence of the sternum.
HP:0010309	Bifid sternum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:54008006|UMLS:C0265696	hposlim_core	Sternal cleft	http://purl.obolibrary.org/obo/HP_0010309	The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.
HP:0010310	Chylothorax	biolink:PhenotypicFeature	hp	MSH:D002916|SNOMEDCT_US:83035003|UMLS:C0008733			http://purl.obolibrary.org/obo/HP_0010310	Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
HP:0010311	Aplasia/Hypoplasia of the breasts	biolink:PhenotypicFeature	hp	UMLS:C4023911		Absent/small breasts|Absent/underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0010311	Absence or underdevelopment of the breasts.
HP:0010312	Asymmetry of the breasts	biolink:PhenotypicFeature	hp	MSH:C565299|UMLS:C1854013	hposlim_core		http://purl.obolibrary.org/obo/HP_0010312	The presence of asymmetrical breasts.
HP:0010313	Breast hypertrophy	biolink:PhenotypicFeature	hp	MSH:C536821|SNOMEDCT_US:372281005|SNOMEDCT_US:372283008|SNOMEDCT_US:372285001|UMLS:C0020565|UMLS:C0392533|UMLS:C2225524	hposlim_core	Breast enlargement|Breasts enlarged|Gigantomastia|Hypertrophy of the breasts|Large breast|Macromastia	http://purl.obolibrary.org/obo/HP_0010313	The presence of hypertrophy of the breast.
HP:0010314	Premature thelarche	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102889008|UMLS:C0425772		Premature breast development	http://purl.obolibrary.org/obo/HP_0010314	Premature development of the breasts.
HP:0010315	Aplasia/Hypoplasia of the diaphragm	biolink:PhenotypicFeature	hp	UMLS:C4023910		Absent/small diaprhagm|Absent/underdeveloped diaprhagm	http://purl.obolibrary.org/obo/HP_0010315	Absence or underdevelopment of the diaphragm.
HP:0010316	Ebstein anomaly of the tricuspid valve	biolink:PhenotypicFeature	hp	EPCC:06.01.34|ICD-10:Q22.5|MSH:D004437|SNOMEDCT_US:204357006|UMLS:C0013481		Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve|Ebstein's malformation	http://purl.obolibrary.org/obo/HP_0010316	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	biolink:PhenotypicFeature	hp	UMLS:C4021298	hposlim_core	Absent shoulder blade|Absent scapula	http://purl.obolibrary.org/obo/HP_0010317	Absence of the scapulae.
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature	biolink:PhenotypicFeature	hp	UMLS:C4023909		Absent/small abdominal wall muscles|Absent/underdeveloped abdominal wall muscles	http://purl.obolibrary.org/obo/HP_0010318	Absence or underdevelopment of the abdominal musculature.
HP:0010319	Abnormality of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023908			http://purl.obolibrary.org/obo/HP_0010319	An anomaly of the second toe.
HP:0010320	Abnormality of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023907		Abnormality of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010320	An anomaly of the third toe.
HP:0010321	Abnormality of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023906		Abnormality of the 4th toe	http://purl.obolibrary.org/obo/HP_0010321	An anomaly of the fourth toe.
HP:0010322	Abnormality of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023905		Abnormality of the little toe|Abnormality of the pinkie toe|Abnormality of the pinky toe	http://purl.obolibrary.org/obo/HP_0010322	An anomaly of the little toe.
HP:0010323	Abnormality of the epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023904		Abnormality of the end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010323	
HP:0010324	Abnormality of phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023903		Abnormality of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010324	An anomaly of a phalanx of second toe.
HP:0010325	Aplasia/Hypoplasia of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023902		Absent/small 2nd toe|Absent/underdeveloped 2nd toe	http://purl.obolibrary.org/obo/HP_0010325	
HP:0010326	Deviation of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021297		Displacement of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010326	
HP:0010327	Flexion contracture of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021296		Joint contractures of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010327	One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.
HP:0010328	Polydactyly affecting the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023901			http://purl.obolibrary.org/obo/HP_0010328	
HP:0010329	Abnormality of the epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023900		Abnormality of the end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0010329	
HP:0010330	Abnormality of the phalanges of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023899		Abnormality of the bones of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010330	
HP:0010331	Aplasia/Hypoplasia of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C1862698		Absent/small 3rd toe|Absent/underdeveloped 3rd toe|Absent/hypoplastic third toe	http://purl.obolibrary.org/obo/HP_0010331	
HP:0010332	Deviation of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021295		Displacement of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010332	
HP:0010333	Flexion contracture of 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021294		Joint contractures of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010333	One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.
HP:0010334	Polydactyly affecting the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023898			http://purl.obolibrary.org/obo/HP_0010334	
HP:0010335	Abnormality of the epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023897		Abnormality of the end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0010335	
HP:0010336	Abnormality of the phalanges of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023896			http://purl.obolibrary.org/obo/HP_0010336	
HP:0010337	Aplasia/Hypoplasia of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023895		Absent/small 4th toe|Absent/underdeveloped 4th toe	http://purl.obolibrary.org/obo/HP_0010337	
HP:0010338	Deviation of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021293		Displacement of the 4th toe	http://purl.obolibrary.org/obo/HP_0010338	
HP:0010339	Flexion contracture of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021292		Joint contractures of the 4th toe	http://purl.obolibrary.org/obo/HP_0010339	One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.
HP:0010340	Polydactyly affecting the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023894			http://purl.obolibrary.org/obo/HP_0010340	
HP:0010341	Abnormality of the epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023893		Abnormality of the end part of the little toe bone|Abnormality of the end part of the pinkie toe bone|Abnormality of the end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0010341	
HP:0010342	Abnormality of the phalanges of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023892		Abnormality of the little toe bones|Abnormality of the pinkie toe bones|Abnormality of the pinky toe bones	http://purl.obolibrary.org/obo/HP_0010342	
HP:0010343	Aplasia/Hypoplasia of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023891		Absent/small little toe|Absent/small pinkie toe|Absent/underdeveloped pinky toe|Absent/small pinky toe	http://purl.obolibrary.org/obo/HP_0010343	
HP:0010344	Deviation of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021291		Displacement of the little toe|Displacement of the pinkie toe|Displacement of the pinky toe|Displacement of the 5th toe	http://purl.obolibrary.org/obo/HP_0010344	
HP:0010345	Flexion contracture of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021290		Joint contractures of the 5th toe	http://purl.obolibrary.org/obo/HP_0010345	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	biolink:PhenotypicFeature	hp	UMLS:C4023890		Absent/small bones of 2nd toe|Absent/underdeveloped bones of 2nd toe	http://purl.obolibrary.org/obo/HP_0010347	
HP:0010348	Broad phalanges of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023889		Broad bones of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010348	
HP:0010349	Bullet-shaped 2nd toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021289		Bullet-shaped bones of the 2nd toe|Bullet-shaped phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010349	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	biolink:PhenotypicFeature	hp	UMLS:C4021288		Curved bones of the 2nd toe|Curved phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010350	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	biolink:PhenotypicFeature	hp	UMLS:C4023888			http://purl.obolibrary.org/obo/HP_0010351	
HP:0010352	Patchy sclerosis of 2nd toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021287		Uneven increase in bone density in 2nd toe bone|Patchy sclerosis of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010352	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	Symphalangism affecting the phalanges of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023887		Fused bones of 2nd toe	http://purl.obolibrary.org/obo/HP_0010353	Fusion of the interphalangeal joints of the 2nd toe.
HP:0010354	Triangular shaped phalanges of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023886		Triangular shaped bone of 2nd toe|Triangular shaped bone of second toe	http://purl.obolibrary.org/obo/HP_0010354	
HP:0010355	Duplication of the phalanges of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021286		Duplication of the bones of the 2nd toe|Partial/complete duplication of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010355	Partial or complete duplication of a phalanx of second toe.
HP:0010356	Abnormality of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023885		Abnormality of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010356	
HP:0010357	Abnormality of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023884		Abnormality of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010357	
HP:0010358	Abnormality of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023883		Abnormality of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010358	
HP:0010359	Aplasia/Hypoplasia of the phalanges of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023882		Absent/small bones of 3rd toe|Absent/underdeveloped bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0010359	
HP:0010360	Broad phalanges of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023881		Wide bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0010360	
HP:0010361	Bullet-shaped 3rd toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021285		Bullet-shaped bones of 3rd toe|Bullet-shaped phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010361	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	biolink:PhenotypicFeature	hp	UMLS:C4021284		Curved bones of 3rd toe|Curved phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010362	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	biolink:PhenotypicFeature	hp	UMLS:C4021825			http://purl.obolibrary.org/obo/HP_0010363	
HP:0010364	Patchy sclerosis of 3rd toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021283		Uneven increase in bone density in 3rd toe bone|Patchy sclerosis of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010364	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	biolink:PhenotypicFeature	hp	UMLS:C4023880		Fused bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0010365	
HP:0010366	Triangular shaped phalanges of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023879		Triangular shaped 3rd toe bones	http://purl.obolibrary.org/obo/HP_0010366	
HP:0010367	Duplication of phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021282		Duplication of 3rd toe bone|Duplication of phalanx of the third toe|Partial/complete duplication of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010367	Partial or complete duplication of phalanx of third toe.
HP:0010368	Abnormality of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023878		Abnormality of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0010368	
HP:0010369	Abnormality of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023877		Abnormality of the middle bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0010369	
HP:0010370	Abnormality of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4023876		Abnormality of the innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0010370	An anomaly of the proximal phalanx of third toe.
HP:0010371	Aplasia/Hypoplasia of the phalanges of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023875		Absent/small bones of 4th toe|Absent/underdeveloped bones of 4th toe	http://purl.obolibrary.org/obo/HP_0010371	
HP:0010372	Broad phalanges of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023874		Broad bones of the 4th toe	http://purl.obolibrary.org/obo/HP_0010372	
HP:0010373	Bullet-shaped 4th toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021281		Bullet-shaped bones of the 4th toe|Bullet-shaped phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010373	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	biolink:PhenotypicFeature	hp	UMLS:C4021280		Curved bones of 4th toe|Curved phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010374	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	biolink:PhenotypicFeature	hp	UMLS:C4023873			http://purl.obolibrary.org/obo/HP_0010375	
HP:0010376	Patchy sclerosis of 4th toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021279		Patchy sclerosis of the phalanges of the 4th toe|Uneven increase in bone density in 4th toe bone	http://purl.obolibrary.org/obo/HP_0010376	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	biolink:PhenotypicFeature	hp	UMLS:C4023872		Fused bones of 4th toe	http://purl.obolibrary.org/obo/HP_0010377	
HP:0010378	Triangular shaped phalanges of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023871		Triangular shaped bones of 4th toe	http://purl.obolibrary.org/obo/HP_0010378	
HP:0010379	Duplication of phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021278		Duplication of 4th toe bone|Duplication of phalanx of the fourth toe|Partial/complete duplication of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0010379	Partial or complete duplication of phalanx of fourth toe.
HP:0010380	Abnormality of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023870		Abnormality of the outermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0010380	
HP:0010381	Abnormality of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023869		Abnormality of middle 4th toe bone	http://purl.obolibrary.org/obo/HP_0010381	
HP:0010382	Abnormality of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4023868		Abnormal innermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0010382	
HP:0010383	Aplasia/Hypoplasia of the phalanges of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023867		Absent/small little toe bones|Absent/small pinkie toe bones|Absent/underdeveloped pinky toe bones|Absent/small pinky toe bones	http://purl.obolibrary.org/obo/HP_0010383	
HP:0010384	Broad phalanges of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023866		Broad bones of the little toe|Broad bones of the pinkie toe|Broad bones of the pinky toe	http://purl.obolibrary.org/obo/HP_0010384	
HP:0010385	Bullet-shaped 5th toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021277		Bullet-shaped bones of the little toe|Bullet-shaped bones of the pinkie toe|Bullet-shaped bones of the pinky toe|Bullet-shaped phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010385	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	biolink:PhenotypicFeature	hp	UMLS:C4021276		Curved little toe bones|Curved phalanges of the 5th toe|Curved pinkie toe bones|Curved pinky toe bones	http://purl.obolibrary.org/obo/HP_0010386	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	biolink:PhenotypicFeature	hp	UMLS:C4023865			http://purl.obolibrary.org/obo/HP_0010387	
HP:0010388	Patchy sclerosis of 5th toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4021275		Uneven increase in bone density in little toe bone|Uneven increase in bone density in pinkie toe bone|Uneven increase in bone density in pinky toe bone|Patchy sclerosis of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010388	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	biolink:PhenotypicFeature	hp	UMLS:C4023864		Fused bones in the little toe|Fused bones in the pinkie toe|Fused bones in the pinky toe	http://purl.obolibrary.org/obo/HP_0010389	
HP:0010390	Triangular shaped phalanges of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023863		Triangular shaped little toe bone|Triangular shaped pinkie toe bone|Triangular shaped pinky toe bone	http://purl.obolibrary.org/obo/HP_0010390	
HP:0010391	Duplication of the phalanges of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020903		Duplication of the bones of the little toe|Duplication of the bones of the pinkie toe|Duplication of the bones of the pinky toe|Duplication of the phalanges of the fifth toe|Partial/complete duplication of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0010391	Partial or complete duplication of one or more phalanx of little toe.
HP:0010392	Abnormality of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023862		Abnormality of the outermost bone of the little toe|Abnormality of the outermost bone of the pinkie toe|Abnormality of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0010392	
HP:0010393	Abnormality of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023861		Abnormality of the middle bone of the little toe|Abnormality of the middle bone of the pinkie toe|Abnormality of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0010393	
HP:0010394	Abnormality of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4023860		Abnormality of the innermost bone of the little toe|Abnormality of the innermost bone of the pinkie toe|Abnormality of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0010394	
HP:0010395	Aplasia/hypoplasia of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023859		Absent/small innermost 2nd toe bone|Absent/underdeveloped innermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010395	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe.
HP:0010396	Broad proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023858		Broad innermost bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010396	
HP:0010397	Bullet-shaped proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023857		Bullet-shaped innermost bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010397	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	biolink:PhenotypicFeature	hp	UMLS:C4023856		Curved innermost bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010398	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	biolink:PhenotypicFeature	hp	UMLS:C4023855			http://purl.obolibrary.org/obo/HP_0010399	
HP:0010400	Patchy sclerosis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023854		Uneven increase in bone density in the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010400	
HP:0010401	Symphalangism affecting the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023853		Fused innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010401	
HP:0010402	Triangular shaped proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023852		Triangular shaped innermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010402	
HP:0010403	Duplication of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021274		Duplication of innermost 2nd toe bone|Duplication of the proximal phalanx of the second toe|Partial/complete duplication of the proximal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010403	Partial or complete duplication of proximal phalanx of second toe.
HP:0010404	Aplasia/Hypoplasia of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023851		Absent/small middle bone of 2nd toe|Absent/underdeveloped middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010404	
HP:0010405	Broad middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023850		Broad middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010405	
HP:0010406	Bullet-shaped middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023849		Bullet-shaped middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010406	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	biolink:PhenotypicFeature	hp	UMLS:C4023848		Curved middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010407	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	biolink:PhenotypicFeature	hp	UMLS:C4023847			http://purl.obolibrary.org/obo/HP_0010408	
HP:0010409	Patchy sclerosis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023846		Uneven increase in bone density in the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010409	
HP:0010410	Symphalangism affecting the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023845		Fused middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010410	
HP:0010411	Triangular shaped middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023844		Triangular shaped middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010411	
HP:0010412	Duplication of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021273		Duplication of middle bone of 2nd toe|Partial/complete duplication of the middle phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010412	Partial or complete duplication of middle phalanx of second toe.
HP:0010413	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023843		Absent/small outermost 2nd toe bone|Absent/underdeveloped outermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010413	
HP:0010414	Broad distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023842		Broad outermost bone of the 2nd toe|Wide outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010414	
HP:0010415	Bullet-shaped distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023841		Bullet-shaped outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010415	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	biolink:PhenotypicFeature	hp	UMLS:C4023840		Curved outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010416	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	biolink:PhenotypicFeature	hp	UMLS:C4023839			http://purl.obolibrary.org/obo/HP_0010417	
HP:0010418	Patchy sclerosis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023838		Uneven increase in bone density in the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010418	
HP:0010419	Symphalangism affecting the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023837		Fused outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010419	
HP:0010420	Triangular shaped distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023836		Triangular shaped outermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010420	
HP:0010421	Duplication of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021272		Duplication of the outermost bone of the 2nd toe|Partial/complete duplication of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010421	Partial or complete duplication of the distal phalanx of second toe.
HP:0010422	Complete duplication of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021271		Complete duplication of the innermost 2nd toe bone|Complete duplication of the proximal phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010422	Complete duplication of proximal phalanx of second toe.
HP:0010423	Partial duplication of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021270		Partial duplication of the innermost 2nd toe bone|Partial duplication of the proximal phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010423	Partial duplication of proximal phalanx of second toe.
HP:0010424	Complete duplication of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023835		Complete duplication of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010424	Complete duplication of the distal phalanx of second toe.
HP:0010425	Partial duplication of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023834		Partial duplication of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010425	Partial duplication of the distal phalanx of second toe.
HP:0010426	Complete duplication of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023833		Complete duplication of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010426	Complete duplication of middle phalanx of second toe.
HP:0010427	Partial duplication of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023832		Partial duplication of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010427	Partial duplication of middle phalanx of second toe.
HP:0010428	Partial duplication of phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023831		Partial duplication of 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010428	Partial duplication of a phalanx of second toe.
HP:0010429	Complete duplication of the phalanges of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023830		Complete duplication of the 2nd toe bones	http://purl.obolibrary.org/obo/HP_0010429	Complete duplication of a phalanx of second toe.
HP:0010430	Aplasia of the phalanges of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4023829		Absent 2nd toe bones	http://purl.obolibrary.org/obo/HP_0010430	
HP:0010431	Short phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021269		Short 2nd toe bone|Hypoplastic/small phalanges of the 2nd toe|Short phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010431	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	biolink:PhenotypicFeature	hp	UMLS:C4021268		Absent outermost bone of the 2nd toe|Absent distal phalanx of the second toe|Aplasia of the distal phalanx of the 2nd toe	http://purl.obolibrary.org/obo/HP_0010432	Absence of distal phalanx of the second toe as a result of developmental aplasia.
HP:0010433	Short distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021267		Short outermost bone of the 2nd toe|Hypoplastic/small distal phalanx of the 2nd toe|Short distal phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010433	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	biolink:PhenotypicFeature	hp	UMLS:C4023828		Absent middle bone of 2nd toe	http://purl.obolibrary.org/obo/HP_0010434	
HP:0010435	Short middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021266		Short middle 2nd toe bone|Hypoplastic/small middle phalanx of the 2nd toe|Short middle phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010435	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	biolink:PhenotypicFeature	hp	UMLS:C4023827		Absent innermost 2nd toe bone	http://purl.obolibrary.org/obo/HP_0010436	
HP:0010437	Short proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021265		Short innermost 2nd toe bone|Hypoplastic/small proximal phalanx of the 2nd toe|Short proximal phalanx of the second toe	http://purl.obolibrary.org/obo/HP_0010437	Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.
HP:0010438	Abnormal ventricular septum morphology	biolink:PhenotypicFeature	hp	Fyler:1815|UMLS:C4021264		Abnormal interventricular septum morphology|Abnormality of the ventricular septum|Ventricular septum abnormality	http://purl.obolibrary.org/obo/HP_0010438	A structural abnormality of the interventricular septum.
HP:0010440	Ectopic accesory toe-like appendage	biolink:PhenotypicFeature	hp	UMLS:C4023826			http://purl.obolibrary.org/obo/HP_0010440	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	biolink:PhenotypicFeature	hp	UMLS:C4023825			http://purl.obolibrary.org/obo/HP_0010441	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	biolink:PhenotypicFeature	hp	Fyler:4103|MSH:D017689|SNOMEDCT_US:367506006|UMLS:C0152427		More than five fingers or toes on hands or feet	http://purl.obolibrary.org/obo/HP_0010442	A congenital anomaly characterized by the presence of supernumerary fingers or toes.
HP:0010443	Bifid femur	biolink:PhenotypicFeature	hp	UMLS:C4023824	hposlim_core	Notched thighbone|Split thighbone	http://purl.obolibrary.org/obo/HP_0010443	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	biolink:PhenotypicFeature	hp	MSH:D011665|SNOMEDCT_US:91434003|UMLS:C0034088		Pulmonary incompetence|Puolmonary valve insufficiency	http://purl.obolibrary.org/obo/HP_0010444	The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
HP:0010445	Primum atrial septal defect	biolink:PhenotypicFeature	hp	Fyler:1110|MSH:C536112|MSH:C548006|SNOMEDCT_US:253373002|UMLS:C0344735|UMLS:C0741296		Atrial septal defect, primum type|Ostium primum atrial septal defect|Primum atrioventricular canal defect|Septum primum defect	http://purl.obolibrary.org/obo/HP_0010445	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	biolink:PhenotypicFeature	hp	EPCC:06.01.92|ICD-10:Q22.4|MSH:D014264|SNOMEDCT_US:49915006|UMLS:C0040963			http://purl.obolibrary.org/obo/HP_0010446	A narrowing of the orifice of the tricuspid valve of the heart.
HP:0010447	Anal fistula	biolink:PhenotypicFeature	hp	MEDDRA:10002156|MSH:D012003|SNOMEDCT_US:72779005|UMLS:C0205929	hposlim_core	Fistula in ano	http://purl.obolibrary.org/obo/HP_0010447	An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
HP:0010448	Colonic atresia	biolink:PhenotypicFeature	hp	MSH:C562562|SNOMEDCT_US:37054000|UMLS:C0266190		Atresia of the large intestine|Large intestinal atresia	http://purl.obolibrary.org/obo/HP_0010448	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	biolink:PhenotypicFeature	hp	MSH:D004940|SNOMEDCT_US:63305008|UMLS:C0014866		Narrowing of the esophagus	http://purl.obolibrary.org/obo/HP_0010450	An abnormal narrowing of the lumen of the esophagus.
HP:0010451	Aplasia/Hypoplasia of the spleen	biolink:PhenotypicFeature	hp	UMLS:C4023823		Absent/small spleen|Absent/underdeveloped spleen	http://purl.obolibrary.org/obo/HP_0010451	Absence or underdevelopment of the spleen.
HP:0010452	Ectopia of the spleen	biolink:PhenotypicFeature	hp	SNOMEDCT_US:65146007|UMLS:C0266632		Abnormal spleen location|Ectopic spleen	http://purl.obolibrary.org/obo/HP_0010452	An abnormal (non-anatomic) location of the spleen.
HP:0010453	Pelvic bone asymmetry	biolink:PhenotypicFeature	hp	UMLS:C4021263	hposlim_core	Pelvic asymmetry|Asymmetric pelvis	http://purl.obolibrary.org/obo/HP_0010453	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	biolink:PhenotypicFeature	hp	UMLS:C3808270	hposlim_core		http://purl.obolibrary.org/obo/HP_0010454	The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.
HP:0010455	Steep acetabular roof	biolink:PhenotypicFeature	hp	UMLS:C3150931			http://purl.obolibrary.org/obo/HP_0010455	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	biolink:PhenotypicFeature	hp	UMLS:C4023822		Abnormality of greater sciatic notch|Abnormality of the greater sacrosciatic notch|Abnormality of the sacroiliac notch	http://purl.obolibrary.org/obo/HP_0010456	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:0010457	obsolete Widening of the sacrosciatic notch	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0010457	
HP:0010458	Female pseudohermaphroditism	biolink:PhenotypicFeature	hp	MSH:D058489|SNOMEDCT_US:8800006|UMLS:C0238394			http://purl.obolibrary.org/obo/HP_0010458	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	biolink:PhenotypicFeature	hp	MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361		Testicular and ovarian tissue present	http://purl.obolibrary.org/obo/HP_0010459	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	biolink:PhenotypicFeature	hp	UMLS:C4023820			http://purl.obolibrary.org/obo/HP_0010460	Abnormality of the female genital system.
HP:0010461	Abnormality of the male genitalia	biolink:PhenotypicFeature	hp	UMLS:C4023819		Abnormal male genitals|Abnormality of the male genitalia	http://purl.obolibrary.org/obo/HP_0010461	Abnormality of the male genital system.
HP:0010462	Aplasia/Hypoplasia of the ovary	biolink:PhenotypicFeature	hp	UMLS:C4023818		Absent/small ovary|Absent/underdeveloped ovary	http://purl.obolibrary.org/obo/HP_0010462	Aplasia or developmental hypoplasia of the ovary.
HP:0010463	Aplasia of the ovary	biolink:PhenotypicFeature	hp	SNOMEDCT_US:12017008|UMLS:C0266368		Absent ovary|Aplasia of the ovaries|Bilateral absent ovaries	http://purl.obolibrary.org/obo/HP_0010463	Aplasia, that is failure to develop, of the ovary.
HP:0010464	Streak ovary	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70550008|UMLS:C0266371			http://purl.obolibrary.org/obo/HP_0010464	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19911007|UMLS:C0271616			http://purl.obolibrary.org/obo/HP_0010465	The onset of puberty before the age of 8 years in girls.
HP:0010468	Aplasia/Hypoplasia of the testes	biolink:PhenotypicFeature	hp	UMLS:C4023817		Absent/small testes|Absent/underdeveloped testes	http://purl.obolibrary.org/obo/HP_0010468	Absence or underdevelopment of the testes.
HP:0010469	Absent testis	biolink:PhenotypicFeature	hp	UMLS:C4023816		Absent testes|Absence of palpable testicules|Aplasia of the testes	http://purl.obolibrary.org/obo/HP_0010469	Testis not palpable in the scrotum or inguinal canal.
HP:0010470	Supernumerary testes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17471001|UMLS:C0266430		Extra testes|Polyorchidism	http://purl.obolibrary.org/obo/HP_0010470	The presence of more than two testes.
HP:0010471	Oligosacchariduria	biolink:PhenotypicFeature	hp	UMLS:C4023815			http://purl.obolibrary.org/obo/HP_0010471	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	biolink:PhenotypicFeature	hp	UMLS:C4023814			http://purl.obolibrary.org/obo/HP_0010472	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:44574006|UMLS:C0151861			http://purl.obolibrary.org/obo/HP_0010473	Abnormally increased excretion of porphyrins in the urine.
HP:0010474	Bladder stones	biolink:PhenotypicFeature	hp	MSH:D001744|SNOMEDCT_US:70650003|UMLS:C0005683			http://purl.obolibrary.org/obo/HP_0010474	Buildups of minerals that form in the urinary bladder.
HP:0010475	Cloacal exstrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20815007|UMLS:C0345217			http://purl.obolibrary.org/obo/HP_0010475	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	biolink:PhenotypicFeature	hp	UMLS:C4023813		Absent/small bladder|Absent/underdeveloped bladder	http://purl.obolibrary.org/obo/HP_0010476	Absence or underdevelopment of the urinary bladder.
HP:0010477	Aplasia of the bladder	biolink:PhenotypicFeature	hp	UMLS:C4023812		Absent bladder	http://purl.obolibrary.org/obo/HP_0010477	Aplasia (absence) of the urinary bladder.
HP:0010478	Abnormality of the urachus	biolink:PhenotypicFeature	hp	UMLS:C4023811			http://purl.obolibrary.org/obo/HP_0010478	Abnormality of the urachus.
HP:0010479	Patent urachus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:398316009|UMLS:C0266357		Persistent urachus	http://purl.obolibrary.org/obo/HP_0010479	Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.
HP:0010480	Urethral fistula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14981000|UMLS:C0041970			http://purl.obolibrary.org/obo/HP_0010480	The presence of an abnormal connection between the urethra and another organ or the skin.
HP:0010481	Urethral valve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297163001|UMLS:C0266345			http://purl.obolibrary.org/obo/HP_0010481	The presence of an abnormal membrane obstructing the urethra.
HP:0010482	Acromelia of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4023810			http://purl.obolibrary.org/obo/HP_0010482	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	biolink:PhenotypicFeature	hp	UMLS:C4023809			http://purl.obolibrary.org/obo/HP_0010483	Amniotic constriction rings affecting the arms.
HP:0010484	Hypertrophy of the upper limb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298745009|UMLS:C0575518		Increased size of upper limb	http://purl.obolibrary.org/obo/HP_0010484	Abnormal increase in size of the upper limbs (due to an increase of the size of cells).
HP:0010485	Hyperextensibility at elbow	biolink:PhenotypicFeature	hp	UMLS:C4023808			http://purl.obolibrary.org/obo/HP_0010485	The ability of the elbow joint to move beyond its normal range of motion.
HP:0010486	Abnormality of the hypothenar eminence	biolink:PhenotypicFeature	hp	UMLS:C4023807			http://purl.obolibrary.org/obo/HP_0010486	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	biolink:PhenotypicFeature	hp	UMLS:C1861395	hposlim_core	Hypoplasia of the hypothenar eminence|Hypothenar hypoplasia	http://purl.obolibrary.org/obo/HP_0010487	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	biolink:PhenotypicFeature	hp	UMLS:C4023806		Absent/small palm crease|Absent/underdeveloped palm crease	http://purl.obolibrary.org/obo/HP_0010488	Absence or underdevelopment of the palmar creases.
HP:0010489	Absent palmar crease	biolink:PhenotypicFeature	hp	UMLS:C4021262	hposlim_core	Absent palm lines|Absence of the palmar creases|Aplasia of the palmar creases	http://purl.obolibrary.org/obo/HP_0010489	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205557000|UMLS:C0221199	hposlim_core	Abnormality of the palm lines	http://purl.obolibrary.org/obo/HP_0010490	An abnormality of the creases of the skin of palm of hand.
HP:0010491	Digital constriction ring	biolink:PhenotypicFeature	hp	UMLS:C4021261	hposlim_core	Amniotic constriction rings of digits	http://purl.obolibrary.org/obo/HP_0010491	A narrow segment of significantly reduced circumference of a digit.
HP:0010492	Osseous finger syndactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2560006|UMLS:C0158736	hposlim_core	Osseous syndactyly of the fingers	http://purl.obolibrary.org/obo/HP_0010492	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	biolink:PhenotypicFeature	hp	UMLS:C4021260	hposlim_core	Elongated long bone of hand|Increased length of metacarpals	http://purl.obolibrary.org/obo/HP_0010493	An abnormally increased length of the metacarpal bones.
HP:0010494	Acromelia of the lower limbs	biolink:PhenotypicFeature	hp	UMLS:C4023805			http://purl.obolibrary.org/obo/HP_0010494	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	biolink:PhenotypicFeature	hp	UMLS:C4023804			http://purl.obolibrary.org/obo/HP_0010495	Amniotic constriction rings affecting the legs.
HP:0010496	Hypertrophy of the lower limb	biolink:PhenotypicFeature	hp	UMLS:C4023803			http://purl.obolibrary.org/obo/HP_0010496	Abnormal increase in size of the lower limbs (due to an increase of the size of cells).
HP:0010497	Sirenomelia	biolink:PhenotypicFeature	hp	MEDDRA:10049216|MSH:D004480|SNOMEDCT_US:253191000|SNOMEDCT_US:67254002|SNOMEDCT_US:91089008|UMLS:C0037205	hposlim_core	Sympodia	http://purl.obolibrary.org/obo/HP_0010497	A developmental defect in which the legs are fused together.
HP:0010498	Bipartite patella	biolink:PhenotypicFeature	hp	SNOMEDCT_US:79214007|UMLS:C0265666	hposlim_core		http://purl.obolibrary.org/obo/HP_0010498	A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.
HP:0010499	Patellar subluxation	biolink:PhenotypicFeature	hp	UMLS:C0857276		Partial knee cap dislocation|Subluxation of patella	http://purl.obolibrary.org/obo/HP_0010499	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	biolink:PhenotypicFeature	hp	UMLS:C4023802			http://purl.obolibrary.org/obo/HP_0010500	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	biolink:PhenotypicFeature	hp	UMLS:C4021259		Limitation of knee mobility|Limited knee movement	http://purl.obolibrary.org/obo/HP_0010501	An abnormal limitation of knee joint mobility.
HP:0010502	Fibular bowing	biolink:PhenotypicFeature	hp	UMLS:C4023801		Bowed calf bone	http://purl.obolibrary.org/obo/HP_0010502	A bending or abnormal curvature of the fibula.
HP:0010503	Fibular duplication	biolink:PhenotypicFeature	hp	UMLS:C3276742	hposlim_core	Duplicated calf bone	http://purl.obolibrary.org/obo/HP_0010503	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	biolink:PhenotypicFeature	hp	UMLS:C4021864		Increased length of shankbone|Increased length of shinbone	http://purl.obolibrary.org/obo/HP_0010504	An abnormal increase in the length of the tibia.
HP:0010505	Limitation of movement at ankles	biolink:PhenotypicFeature	hp	UMLS:C4023800			http://purl.obolibrary.org/obo/HP_0010505	An abnormal limitation of the mobility of the ankle joint.
HP:0010506	Abnormal plantar dermatoglyphics	biolink:PhenotypicFeature	hp	UMLS:C4021258		Abnormal prints on feet|Abnormal dermatoglyphics on feet	http://purl.obolibrary.org/obo/HP_0010506	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	biolink:PhenotypicFeature	hp	UMLS:C4023799			http://purl.obolibrary.org/obo/HP_0010507	A difference in size or shape between the left and right foot.
HP:0010508	Metatarsus valgus	biolink:PhenotypicFeature	hp	MSH:D000070591|UMLS:C4082144			http://purl.obolibrary.org/obo/HP_0010508	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	biolink:PhenotypicFeature	hp	UMLS:C4021257		Absent ankle bone|Absent tarsals	http://purl.obolibrary.org/obo/HP_0010509	Absence of the tarsal bones.
HP:0010510	Hypermobility of toe joints	biolink:PhenotypicFeature	hp	UMLS:C4023798			http://purl.obolibrary.org/obo/HP_0010510	An ability of the toe joints to move beyond their normal range of motion.
HP:0010511	Long toe	biolink:PhenotypicFeature	hp	UMLS:C3150613	hposlim_core	Increased length of toes|Long toe|Long toes	http://purl.obolibrary.org/obo/HP_0010511	Toes that appear disproportionately long compared to the foot.
HP:0010512	Adrenal calcification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:12286000|UMLS:C0271750			http://purl.obolibrary.org/obo/HP_0010512	Calcification within the adrenal glands.
HP:0010513	Pituitary calcification	biolink:PhenotypicFeature	hp	UMLS:C4023797			http://purl.obolibrary.org/obo/HP_0010513	Deposition of calcium salts in the pituitary gland.
HP:0010514	Hyperpituitarism	biolink:PhenotypicFeature	hp	MSH:D006964|SNOMEDCT_US:10649000|UMLS:C0020506			http://purl.obolibrary.org/obo/HP_0010514	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	biolink:PhenotypicFeature	hp	UMLS:C3278004|UMLS:C4023796		Absent/small thymus|Absent/underdeveloped thymus|Thymic hypoplasia or aplasia	http://purl.obolibrary.org/obo/HP_0010515	Absence or underdevelopment of the thymus.
HP:0010516	Thymus hyperplasia	biolink:PhenotypicFeature	hp	MSH:D013952|UMLS:C0040115		Enlarged thymus|Thymic hyperplasia	http://purl.obolibrary.org/obo/HP_0010516	Enlargement of the thymus.
HP:0010517	Ectopic thymus tissue	biolink:PhenotypicFeature	hp	UMLS:C4023795		Abnormal thymus position	http://purl.obolibrary.org/obo/HP_0010517	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	biolink:PhenotypicFeature	hp	MSH:D013955|SNOMEDCT_US:39462005|UMLS:C0040124	hposlim_core	Thyroglossal duct cyst	http://purl.obolibrary.org/obo/HP_0010518	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	biolink:PhenotypicFeature	hp	UMLS:C4021256		Increased foetal movement|Fetal hyperkinesia	http://purl.obolibrary.org/obo/HP_0010519	An abnormal increase in quantity or strength of fetal movements.
HP:0010521	Gait apraxia	biolink:PhenotypicFeature	hp	MSH:D020235|SNOMEDCT_US:30767006|UMLS:C1510417			http://purl.obolibrary.org/obo/HP_0010521	Gait apraxia affecting the ability to make walking movements with the legs.
HP:0010522	Dyslexia	biolink:PhenotypicFeature	hp	MSH:D004410|SNOMEDCT_US:52824009|SNOMEDCT_US:59770006|SNOMEDCT_US:9236007|UMLS:C0476254		Reading disability	http://purl.obolibrary.org/obo/HP_0010522	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	biolink:PhenotypicFeature	hp	MSH:D004410|SNOMEDCT_US:9236007|UMLS:C0002018		Text blindness|Word blindness	http://purl.obolibrary.org/obo/HP_0010523	An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
HP:0010524	Agnosia	biolink:PhenotypicFeature	hp	MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816			http://purl.obolibrary.org/obo/HP_0010524	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	biolink:PhenotypicFeature	hp	MSH:D000377|SNOMEDCT_US:3449007|UMLS:C0234509			http://purl.obolibrary.org/obo/HP_0010525	An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.
HP:0010526	Dysgraphia	biolink:PhenotypicFeature	hp	MSH:D000381|SNOMEDCT_US:88278002|UMLS:C0234144			http://purl.obolibrary.org/obo/HP_0010526	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	biolink:PhenotypicFeature	hp	MSH:D000377|SNOMEDCT_US:25094008|UMLS:C0234505		Astereognosis|Somatosensory agnosia	http://purl.obolibrary.org/obo/HP_0010527	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	biolink:PhenotypicFeature	hp	MSH:D020238|SNOMEDCT_US:18358003|UMLS:C0234512		Face blindness|Facial agnosia	http://purl.obolibrary.org/obo/HP_0010528	Inability to recognize faces of familiar persons.
HP:0010529	Echolalia	biolink:PhenotypicFeature	hp	MSH:D004454|SNOMEDCT_US:64712007|UMLS:C0013528|UMLS:C4280380		Repeated speech|Echoing another person's speech|Echologia|Echophrasia	http://purl.obolibrary.org/obo/HP_0010529	The tendency to repeat vocalizations made by another person.
HP:0010530	Palatal myoclonus	biolink:PhenotypicFeature	hp	MSH:D009207|SNOMEDCT_US:9366002|UMLS:C0030214			http://purl.obolibrary.org/obo/HP_0010530	Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.
HP:0010531	Spinal myoclonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:698836007|UMLS:C3697670			http://purl.obolibrary.org/obo/HP_0010531	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	biolink:PhenotypicFeature	hp	MSH:D014717|SNOMEDCT_US:103290003|UMLS:C0522357			http://purl.obolibrary.org/obo/HP_0010532	Paroxysmal episodes of vertigo.
HP:0010533	Spasmus nutans	biolink:PhenotypicFeature	hp	MSH:D013036|SNOMEDCT_US:18191000|UMLS:C0546878			http://purl.obolibrary.org/obo/HP_0010533	The combination of pendular nystagmus, head nodding, and torticollis.
HP:0010534	Transient global amnesia	biolink:PhenotypicFeature	hp	MSH:D020236|SNOMEDCT_US:230736007|UMLS:C0338591			http://purl.obolibrary.org/obo/HP_0010534	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	biolink:PhenotypicFeature	hp	MSH:D012891|SNOMEDCT_US:73430006|UMLS:C0037315		Pauses in breathing while sleeping|Sleep apnoea	http://purl.obolibrary.org/obo/HP_0010535	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	biolink:PhenotypicFeature	hp	MSH:D020182|UMLS:C0520680		Central sleep apnoea	http://purl.obolibrary.org/obo/HP_0010536	Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.
HP:0010537	Wide cranial sutures	biolink:PhenotypicFeature	hp	SNOMEDCT_US:268855009|UMLS:C0410935	hposlim_core	Large cranial suture|Persistent open cranial sutures|Broad cranial sutures|Widened cranial sutures|open cranial sutures	http://purl.obolibrary.org/obo/HP_0010537	An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
HP:0010538	Small sella turcica	biolink:PhenotypicFeature	hp	UMLS:C4023794|UMLS:C4072875|UMLS:C4072876	hposlim_core	Small hypophyseal fossa|Small pituitary fossa|Hypoplasia of sella turcica|Hypoplasia of hypophseal fossa|Hypoplasia of pituitary fossa	http://purl.obolibrary.org/obo/HP_0010538	An abnormally small sella turcica.
HP:0010539	Thin calvarium	biolink:PhenotypicFeature	hp	UMLS:C1856231|UMLS:C4280379	hposlim_core	Thin skull bone|Thin cranial bone	http://purl.obolibrary.org/obo/HP_0010539	The presence of an abnormally thin calvarium.
HP:0010540	Advanced pneumatization of cranial sinuses	biolink:PhenotypicFeature	hp	UMLS:C4023793			http://purl.obolibrary.org/obo/HP_0010540	A degree of pneumatization that is increased compared to age-related norms.
HP:0010541	Cutis gyrata of scalp	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51603000|UMLS:C0263417|UMLS:C4072877|UMLS:C4280378		Scalp folds|Scalp furrows|Furrows in thickened skin on top of scalp|Thickened folds on top of scalp|Thickening of the scalp|Cutis verticis gyrata	http://purl.obolibrary.org/obo/HP_0010541	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46888001|UMLS:C0155379			http://purl.obolibrary.org/obo/HP_0010542	Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.
HP:0010543	Opsoclonus	biolink:PhenotypicFeature	hp	MSH:D015835|SNOMEDCT_US:194177006|UMLS:C0242567			http://purl.obolibrary.org/obo/HP_0010543	Bursts of large-amplitude multidirectional saccades without intersaccadic interval
HP:0010544	Vertical nystagmus	biolink:PhenotypicFeature	hp	MSH:D009759|SNOMEDCT_US:111533001|UMLS:C0271386	hposlim_core		http://purl.obolibrary.org/obo/HP_0010544	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:307676006|UMLS:C0585544			http://purl.obolibrary.org/obo/HP_0010545	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:41405005|UMLS:C0231531		Twitching	http://purl.obolibrary.org/obo/HP_0010546	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	biolink:PhenotypicFeature	hp	MSH:D009123|SNOMEDCT_US:186611004|SNOMEDCT_US:397488002|UMLS:C0026825			http://purl.obolibrary.org/obo/HP_0010547	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	biolink:PhenotypicFeature	hp	MSH:D009222|UMLS:C0751359		Transient swelling of muscle induced by percussion	http://purl.obolibrary.org/obo/HP_0010548	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	biolink:PhenotypicFeature	hp	UMLS:C4021255		Paralysis due to lesions of the principle motor tracts	http://purl.obolibrary.org/obo/HP_0010549	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	biolink:PhenotypicFeature	hp	MSH:D010264|SNOMEDCT_US:60389000|UMLS:C0030486		Leg paralysis	http://purl.obolibrary.org/obo/HP_0010550	Severe or complete weakness of both lower extremities with sparing of the upper extremities.
HP:0010551	Paraplegia/paraparesis	biolink:PhenotypicFeature	hp	UMLS:C4023792			http://purl.obolibrary.org/obo/HP_0010551	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5332004|UMLS:C0085637			http://purl.obolibrary.org/obo/HP_0010553	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	biolink:PhenotypicFeature	hp	UMLS:C4021254	hposlim_core	Webbed fingers|Webbed skin of fingers|Cutaneous syndactyly of fingers|Cutaneous syndactyly of hands	http://purl.obolibrary.org/obo/HP_0010554	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	biolink:PhenotypicFeature	hp	UMLS:C1446712	hposlim_core		http://purl.obolibrary.org/obo/HP_0010557	A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
HP:0010558	Abnormality of the clivus	biolink:PhenotypicFeature	hp	UMLS:C4023791			http://purl.obolibrary.org/obo/HP_0010558	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	biolink:PhenotypicFeature	hp	UMLS:C1844702			http://purl.obolibrary.org/obo/HP_0010559	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	biolink:PhenotypicFeature	hp	UMLS:C4021253		Wavy collarbone|Wavy clavicles	http://purl.obolibrary.org/obo/HP_0010560	An abnormally wavy surface or edge of the clavicles.
HP:0010561	Undulate ribs	biolink:PhenotypicFeature	hp	UMLS:C1969185		Wavy ribs	http://purl.obolibrary.org/obo/HP_0010561	An abnormally wavy surface or edge of the ribs.
HP:0010562	Keloids	biolink:PhenotypicFeature	hp	MEDDRA:10023330|MSH:D007627|SNOMEDCT_US:33659008|SNOMEDCT_US:58405006|UMLS:C0022548	hposlim_core		http://purl.obolibrary.org/obo/HP_0010562	
HP:0010564	Bifid epiglottis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:232412004|UMLS:C0339864			http://purl.obolibrary.org/obo/HP_0010564	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	biolink:PhenotypicFeature	hp	UMLS:C4023790			http://purl.obolibrary.org/obo/HP_0010565	This term applies if the Epiglottis is absent or hypoplastic.
HP:0010566	Hamartoma	biolink:PhenotypicFeature	hp	MSH:D006222|SNOMEDCT_US:400006008|SNOMEDCT_US:51398009|UMLS:C0018552			http://purl.obolibrary.org/obo/HP_0010566	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	biolink:PhenotypicFeature	hp	UMLS:C4023789		Y-shaped long bone of foot	http://purl.obolibrary.org/obo/HP_0010567	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	biolink:PhenotypicFeature	hp	UMLS:C4023788			http://purl.obolibrary.org/obo/HP_0010568	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.
HP:0010569	Elevated 7-dehydrocholesterol	biolink:PhenotypicFeature	hp	UMLS:C1849185		Elevated levels of cholesta-5,7-dien-3beta-ol	http://purl.obolibrary.org/obo/HP_0010569	Elevated 7-dehydrocholesterol levels.
HP:0010570	Low maternal serum alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C4023787		Low maternal serum alpha-fetoprotein	http://purl.obolibrary.org/obo/HP_0010570	An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.
HP:0010571	Elevated levels of phytanic acid	biolink:PhenotypicFeature	hp	UMLS:C4023786		Elevated levels of phytanic acid	http://purl.obolibrary.org/obo/HP_0010571	An abnormal elevation of phytanic acid.
HP:0010574	Abnormality of the epiphysis of the femoral head	biolink:PhenotypicFeature	hp	UMLS:C4021252		Abnormality of the end part of the innermost thighbone|Abnormality of the proximal femoral epiphysis	http://purl.obolibrary.org/obo/HP_0010574	Any abnormality of the proximal epiphysis of the femur.
HP:0010575	Dysplasia of the femoral head	biolink:PhenotypicFeature	hp	UMLS:C4021251|UMLS:C4280377		Abnormality of femoral head development|Dysplastic femoral head	http://purl.obolibrary.org/obo/HP_0010575	The presence of developmental dysplasia of the femoral head.
HP:0010576	Intracranial cystic lesion	biolink:PhenotypicFeature	hp	UMLS:C4021250		Cerebral cystic malformation	http://purl.obolibrary.org/obo/HP_0010576	A cystic lesion originating within the brain.
HP:0010577	Absent epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4021862		Absent end part of bone	http://purl.obolibrary.org/obo/HP_0010577	
HP:0010578	Bracket epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4023785		Bracket shaped end part of long bone	http://purl.obolibrary.org/obo/HP_0010578	
HP:0010579	Cone-shaped epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1865037		Cone-shaped end part of bone|Cone-shaped epiphyses	http://purl.obolibrary.org/obo/HP_0010579	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	biolink:PhenotypicFeature	hp	UMLS:C1833328		Large end part of bone|Large epiphyses|Widened, distorted epiphyses	http://purl.obolibrary.org/obo/HP_0010580	Increased size of epiphyses.
HP:0010582	Irregular epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1846449		Irregular end part of long bone	http://purl.obolibrary.org/obo/HP_0010582	An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
HP:0010583	Ivory epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1856911		Increased bone density in end part of bone|Epiphyseal sclerosis	http://purl.obolibrary.org/obo/HP_0010583	Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
HP:0010584	Pseudoepiphyses	biolink:PhenotypicFeature	hp	UMLS:C1841685			http://purl.obolibrary.org/obo/HP_0010584	
HP:0010585	Small epiphyses	biolink:PhenotypicFeature	hp	UMLS:C1846803		Small end part of bone	http://purl.obolibrary.org/obo/HP_0010585	Reduction in the size or volume of epiphyses.
HP:0010587	Triangular epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4023784		Triangular end part of bone	http://purl.obolibrary.org/obo/HP_0010587	
HP:0010588	Premature epimetaphyseal fusion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89493005|UMLS:C0151628		Premature closure of epiphyses	http://purl.obolibrary.org/obo/HP_0010588	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	biolink:PhenotypicFeature	hp	UMLS:C4023783		Abnormality of the end part of the outermost thighbone	http://purl.obolibrary.org/obo/HP_0010590	Any abnormality of the distal epiphysis of the femur.
HP:0010591	Abnormality of the proximal tibial epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023782		Abnormality of the end part of innermost shankbone|Abnormality of the end part of innermost shinbone	http://purl.obolibrary.org/obo/HP_0010591	Any abnormality of the proximal epiphysis of the tibia.
HP:0010592	Abnormality of the distal tibial epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023781		Abnormality of the end part of outermost shankbone|Abnormality of the end part of outermost shinbone	http://purl.obolibrary.org/obo/HP_0010592	
HP:0010593	Abnormality of fibular epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4023780		Abnormality of the end part of the calf bone	http://purl.obolibrary.org/obo/HP_0010593	
HP:0010594	Abnormality of the proximal fibular epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023779		Abnormality of the innermost end part of calf bone	http://purl.obolibrary.org/obo/HP_0010594	Any abnormality of the proximal epiphysis of the fibula.
HP:0010595	Abnormality of the distal fibular epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023778		Abnormality of the outermost end part of calf bone	http://purl.obolibrary.org/obo/HP_0010595	Any abnormality of the distal epiphysis of the fibula.
HP:0010596	Abnormality of the proximal radial epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023777			http://purl.obolibrary.org/obo/HP_0010596	Any abnormality of the proximal epiphysis of the radius.
HP:0010597	Abnormality of the distal radial epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023776			http://purl.obolibrary.org/obo/HP_0010597	Any abnormality of the distal epiphysis of the radius.
HP:0010598	Abnormality of the proximal humeral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023775		Abnormality of the end part of the innermost long bone in upper arm	http://purl.obolibrary.org/obo/HP_0010598	Any abnormality of the proximal epiphysis of the humerus.
HP:0010599	Abnormality of the distal humeral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023774		Abnormality of the end part of the outermost long bone in upper arm	http://purl.obolibrary.org/obo/HP_0010599	Any abnormality of the distal epiphysis of the humerus.
HP:0010600	Abnormality of the distal ulnar epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023773			http://purl.obolibrary.org/obo/HP_0010600	Any abnormality of the distal epiphysis of the ulna.
HP:0010601	Abnormality of the proximal ulnar epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4023772			http://purl.obolibrary.org/obo/HP_0010601	Any abnormality of the proximal epiphysis of the ulna.
HP:0010602	Type 2 muscle fiber predominance	biolink:PhenotypicFeature	hp	UMLS:C3277187		Type 2 muscle fibre predominance|Type II muscle fiber predominance	http://purl.obolibrary.org/obo/HP_0010602	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	biolink:PhenotypicFeature	hp	UMLS:C1708604		Keratocystic odontogenic tumor|Keratocysts of the jaw	http://purl.obolibrary.org/obo/HP_0010603	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248514008|SNOMEDCT_US:301913002|SNOMEDCT_US:46210008|UMLS:C0155218|UMLS:C0424844|UMLS:C0578590		Lesion of the eyelid|Cyst of the eyelid|Eyelid bump|Eyelid mass	http://purl.obolibrary.org/obo/HP_0010604	
HP:0010605	Chalazion	biolink:PhenotypicFeature	hp	MSH:D017043|SNOMEDCT_US:1482004|UMLS:C0007933		Meibomian gland lipogranuloma	http://purl.obolibrary.org/obo/HP_0010605	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	biolink:PhenotypicFeature	hp	MSH:D006726|SNOMEDCT_US:1489008|SNOMEDCT_US:397513003|UMLS:C0019917|UMLS:C4280376		Stye of eyelid|Red bump on eyelid	http://purl.obolibrary.org/obo/HP_0010606	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1489008|UMLS:C0019919			http://purl.obolibrary.org/obo/HP_0010607	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:414521009|UMLS:C0085690|UMLS:C4280375		Stye of inner eyelid|Red bump on inner eyelid	http://purl.obolibrary.org/obo/HP_0010608	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:201091002|SNOMEDCT_US:31069005|SNOMEDCT_US:80801001|UMLS:C0037293		Acrochorda	http://purl.obolibrary.org/obo/HP_0010609	Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours 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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247449001|UMLS:C0423776			http://purl.obolibrary.org/obo/HP_0010610	
HP:0010612	Plantar pits	biolink:PhenotypicFeature	hp	UMLS:C1852301			http://purl.obolibrary.org/obo/HP_0010612	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	biolink:PhenotypicFeature	hp	MSH:D005350|NCIT:C3041|SNOMEDCT_US:112682009|SNOMEDCT_US:424568000|UMLS:C0016045			http://purl.obolibrary.org/obo/HP_0010614	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	biolink:PhenotypicFeature	hp	MSH:D018322|NCIT:C3799|SNOMEDCT_US:302857002|SNOMEDCT_US:60392001|UMLS:C0206731			http://purl.obolibrary.org/obo/HP_0010615	Angiofibroma consist of many often dilated vessels.
HP:0010616	Lung fibroma	biolink:PhenotypicFeature	hp	NCIT:C3041|SNOMEDCT_US:707387004|UMLS:C1334444			http://purl.obolibrary.org/obo/HP_0010616	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	biolink:PhenotypicFeature	hp	NCIT:C3041|UMLS:C1096654			http://purl.obolibrary.org/obo/HP_0010617	A fibroma of the heart.
HP:0010618	Ovarian fibroma	biolink:PhenotypicFeature	hp	MSH:C562391|NCIT:C3041|SNOMEDCT_US:254865006|UMLS:C0149951			http://purl.obolibrary.org/obo/HP_0010618	The presence of a fibroma of the ovary.
HP:0010619	Fibroadenoma of the breast	biolink:PhenotypicFeature	hp	NCIT:C3744|SNOMEDCT_US:254845004|UMLS:C0178421		Breast fibroadenoma|Breast fibroadenomas|Breast fibroadenosis|Fibroadenosis - breast|Fibroadenosis of breast	http://purl.obolibrary.org/obo/HP_0010619	A benign biphasic tumor of the breast with epithelial and stromal components.
HP:0010620	Malar prominence	biolink:PhenotypicFeature	hp	UMLS:C1858732|UMLS:C4280374	hposlim_core	Malar excess|Malar hyperplasia|Prominent malar region|Hyperplasia of malar bones	http://purl.obolibrary.org/obo/HP_0010620	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	biolink:PhenotypicFeature	hp	UMLS:C1834737	hposlim_core	Webbed skin of toes|Cutaneous syndactyly of feet|soft tissue syndactyly of toes	http://purl.obolibrary.org/obo/HP_0010621	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	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:442868003|UMLS:C2732838|UMLS:C4020771		Skeletal tumor|Neoplasia of the skeletal system|Bone neoplasm	http://purl.obolibrary.org/obo/HP_0010622	A tumor (abnormal growth of tissue) of the skeleton.
HP:0010624	Aplastic/hypoplastic toenail	biolink:PhenotypicFeature	hp	UMLS:C1856749		Absent/small toenails|Absent/underdeveloped toenails|Aplastic/hypoplastic toenails|Hypoplastic-absent toenails	http://purl.obolibrary.org/obo/HP_0010624	Absence or underdevelopment of the toenail.
HP:0010625	Anterior pituitary dysgenesis	biolink:PhenotypicFeature	hp	MSH:D010903|SNOMEDCT_US:62818001|UMLS:C0032008|UMLS:C4023771		Adenohypophysis	http://purl.obolibrary.org/obo/HP_0010625	Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.
HP:0010626	Anterior pituitary agenesis	biolink:PhenotypicFeature	hp	UMLS:C4021249		Absent pituitary gland|Aplasia of the pituitary gland	http://purl.obolibrary.org/obo/HP_0010626	Absence of the anterior pituitary gland resulting from a developmental defect.
HP:0010627	Anterior pituitary hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C0948740|UMLS:C1859775		Underdeveloped pituitary gland|Hypoplasia of the pituitary gland	http://purl.obolibrary.org/obo/HP_0010627	Underdevelopment of the anterior pituitary gland.
HP:0010628	Facial palsy	biolink:PhenotypicFeature	hp	MSH:D005158|MSH:D020330|SNOMEDCT_US:193093009|SNOMEDCT_US:95666008|UMLS:C0376175|UMLS:C0427055|UMLS:C1858719	hposlim_core	Bell's palsy|Cranial nerve VII palsy|Facial nerve palsy|Facial nerve paralysis|Facial palsy, unilateral or bilateral|Seventh cranial nerve palsy|VII th cranial nerve palsy|Facial muscle weakness of muscles innervated by CN VII	http://purl.obolibrary.org/obo/HP_0010628	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	biolink:PhenotypicFeature	hp	UMLS:C4023770			http://purl.obolibrary.org/obo/HP_0010629	Any abnormality affecting the cortex of the humerus.
HP:0010630	Abnormality of metatarsal epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4021248		Abnormality of end part of long bone of foot|Abnormality of the epiphyses of the metatarsals	http://purl.obolibrary.org/obo/HP_0010630	Any abnormality of a metatarsal bone epiphysis.
HP:0010631	Abnormality of the epiphyses of the feet	biolink:PhenotypicFeature	hp	UMLS:C4023769		Abnormality of the end part of the foot bone	http://purl.obolibrary.org/obo/HP_0010631	Any abnormality of the epiphyses of the feet.
HP:0010632	Total anosmia	biolink:PhenotypicFeature	hp	UMLS:C4023768			http://purl.obolibrary.org/obo/HP_0010632	Inability to detect any qualitative olfactory sensation.
HP:0010633	Partial anosmia	biolink:PhenotypicFeature	hp	UMLS:C4023767			http://purl.obolibrary.org/obo/HP_0010633	Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).
HP:0010634	Total hyposmia	biolink:PhenotypicFeature	hp	UMLS:C4023766			http://purl.obolibrary.org/obo/HP_0010634	Reduced ability to detect any qualitative olfactory sensation.
HP:0010635	Partial hyposmia	biolink:PhenotypicFeature	hp	UMLS:C4023765			http://purl.obolibrary.org/obo/HP_0010635	Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).
HP:0010636	Schizencephaly	biolink:PhenotypicFeature	hp	MSH:D065707|SNOMEDCT_US:253159001|SNOMEDCT_US:38353004|UMLS:C0266484			http://purl.obolibrary.org/obo/HP_0010636	The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
HP:0010637	Conjunctival amyloidosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59017008|UMLS:C0268402			http://purl.obolibrary.org/obo/HP_0010637	A form of amyloidosis that affects the conjunctiva.
HP:0010638	Elevated alkaline phosphatase of hepatic origin	biolink:PhenotypicFeature	hp	UMLS:C4023764		Elevated ALP of hepatic origin	http://purl.obolibrary.org/obo/HP_0010638	An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010639	Elevated alkaline phosphatase of bone origin	biolink:PhenotypicFeature	hp	UMLS:C1833667		Elevated ALP of bone origin|Elevated alkaline phosphatase of bone origin|Increased serum bone-specific alkaline phosphatase	http://purl.obolibrary.org/obo/HP_0010639	An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010640	Abnormality of the nasal cavity	biolink:PhenotypicFeature	hp	UMLS:C4023763			http://purl.obolibrary.org/obo/HP_0010640	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	biolink:PhenotypicFeature	hp	UMLS:C4021861			http://purl.obolibrary.org/obo/HP_0010641	Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.
HP:0010643	Midnasal atresia	biolink:PhenotypicFeature	hp	UMLS:C4023762			http://purl.obolibrary.org/obo/HP_0010643	Absence or abnormal closure of the midnasal cavity.
HP:0010644	Midnasal stenosis	biolink:PhenotypicFeature	hp	UMLS:C1840238		Midnasal atresia or stenosis	http://purl.obolibrary.org/obo/HP_0010644	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	biolink:PhenotypicFeature	hp	UMLS:C4023761		Absent outermost bone of the toes	http://purl.obolibrary.org/obo/HP_0010645	Absence of the distal phalanges of the toes.
HP:0010646	Cervical spine instability	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202821008|UMLS:C0410652			http://purl.obolibrary.org/obo/HP_0010646	An abnormal lack of stability of the cervical spine.
HP:0010647	Abnormal elasticity of skin	biolink:PhenotypicFeature	hp	UMLS:C4023760			http://purl.obolibrary.org/obo/HP_0010647	Any abnormal increase or reduction in skin elasticity.
HP:0010648	Dermal translucency	biolink:PhenotypicFeature	hp	UMLS:C1836646	hposlim_core	Translucent skin	http://purl.obolibrary.org/obo/HP_0010648	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	biolink:PhenotypicFeature	hp	UMLS:C4023759		Depressed nasal alae|Flat nasal alar cartilage	http://purl.obolibrary.org/obo/HP_0010649	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	biolink:PhenotypicFeature	hp	UMLS:C4020770|UMLS:C4072878	hposlim_core	Hypoplasia of the primary palate bone|Premaxillary bone deficiency|Primary palate bone deficiency|Small premaxilla|Small primary palate bone|Underdevelopment of the premaxilla|Underdevelopment of the primary palate bone|Premaxillary retrusion|Primary palate bone retrusion|Decreased size of premaxilla|Decreased size of the primary palate bone|Hypoplasia of the intermaxillary bone|Premaxillary underdevelopment|Underdevelopment of premaxilla|Premaxillary bone retrusion	http://purl.obolibrary.org/obo/HP_0010650	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	biolink:PhenotypicFeature	hp	UMLS:C4023758		Abnormality of the meninges	http://purl.obolibrary.org/obo/HP_0010651	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	biolink:PhenotypicFeature	hp	UMLS:C4023757		Abnormality of the dura mater	http://purl.obolibrary.org/obo/HP_0010652	An abnormality of the Dura mater.
HP:0010653	Abnormality of the falx cerebri	biolink:PhenotypicFeature	hp	UMLS:C4021247		Abnormality of the cerebral falx	http://purl.obolibrary.org/obo/HP_0010653	An abnormality of the Falx cerebri.
HP:0010654	Aplasia of the falx cerebri	biolink:PhenotypicFeature	hp	UMLS:C4023756		Absent cerebral falx	http://purl.obolibrary.org/obo/HP_0010654	A developmental defect characterized by aplasia of the Falx cerebri.
HP:0010655	Epiphyseal stippling	biolink:PhenotypicFeature	hp	SNOMEDCT_US:360507004|UMLS:C1859126		Speckled calcifications in end part of bone|Epiphyseal punctate calcifications|Stippled epiphyses|Stippling of the epiphyses	http://purl.obolibrary.org/obo/HP_0010655	The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
HP:0010656	Abnormal epiphyseal ossification	biolink:PhenotypicFeature	hp	UMLS:C4021246		Abnormal maturation of the end part of a bone|Abnormality of the mineralisation or ossification of the epiphyses	http://purl.obolibrary.org/obo/HP_0010656	An abnormality of the formation and mineralization of an epiphysis.
HP:0010657	Patchy reduction of bone mineral density	biolink:PhenotypicFeature	hp	UMLS:C4023755			http://purl.obolibrary.org/obo/HP_0010657	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	biolink:PhenotypicFeature	hp	UMLS:C4023754			http://purl.obolibrary.org/obo/HP_0010658	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	biolink:PhenotypicFeature	hp	UMLS:C4021245		Patchy increased and decreased bone mineral density	http://purl.obolibrary.org/obo/HP_0010659	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	biolink:PhenotypicFeature	hp	UMLS:C4021244		Abnormal maturation of the hand bones|Abnormal ossification of hand bones|Abnormality of the mineralisation and ossification of bones of the hand	http://purl.obolibrary.org/obo/HP_0010660	An abnormality of the formation and mineralization of any bone of the skeleton of hand.
HP:0010661	Absence of the third cerebral ventricle	biolink:PhenotypicFeature	hp	UMLS:C4023753			http://purl.obolibrary.org/obo/HP_0010661	A developmental defect characterized by the absence of the Third ventricle.
HP:0010662	Abnormality of the diencephalon	biolink:PhenotypicFeature	hp	UMLS:C4023752			http://purl.obolibrary.org/obo/HP_0010662	An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.
HP:0010663	Abnormality of thalamus morphology	biolink:PhenotypicFeature	hp	UMLS:C4021243		Abnormal shape of thalamus|Abnormality of the thalamus	http://purl.obolibrary.org/obo/HP_0010663	An abnormality of the thalamus.
HP:0010664	Fusion of the left and right thalami	biolink:PhenotypicFeature	hp	UMLS:C1834930|UMLS:C4020769		Fused thalami|Undivided thalami|Fusion of thamali	http://purl.obolibrary.org/obo/HP_0010664	A developmental defect characterized by fusion of the left and right halves of the thalamus.
HP:0010665	Bilateral coxa valga	biolink:PhenotypicFeature	hp	UMLS:C3810018			http://purl.obolibrary.org/obo/HP_0010665	The presence of bilateral coxa valga.
HP:0010666	Hypoplasia of the anterior nasal spine	biolink:PhenotypicFeature	hp	UMLS:C4023751|UMLS:C4280372|UMLS:C4280373		Decreased projection of anterior nasal spine|Decreased size of anterior nasal spine|Small anterior nasal spine|Underdevelopment of anterior nasal spine|Decreased length of anterior nasal spine|Deficiency of anterior nasal spine|Hypotrophic anterior nasal spine	http://purl.obolibrary.org/obo/HP_0010666	Underdevelopment of the anterior nasal spine of maxilla.
HP:0010667	Aplasia of the maxilla	biolink:PhenotypicFeature	hp	UMLS:C4023750|UMLS:C4280371		Failure of development of upper jaw bones|Absence of upper jaw bones|Missing upper jaw bones|Absence of the maxilla|Agenesis of the maxilla|Aplasia of the upper jaw bones|Failure of development of maxilla	http://purl.obolibrary.org/obo/HP_0010667	A congenital defect characterized by absence of the Maxilla.
HP:0010668	Abnormality of the zygomatic bone	biolink:PhenotypicFeature	hp	UMLS:C4023749		Abnormality of the cheekbone|Deformity of the cheekbone|Anomaly of the zygomatic bone|Deformity of the zygomatic bone|Malformation of the zygomatic bone	http://purl.obolibrary.org/obo/HP_0010668	An abnormality of the zygomatic bone.
HP:0010669	Hypoplasia of the zygomatic bone	biolink:PhenotypicFeature	hp	UMLS:C4021242|UMLS:C4072879|UMLS:C4280368|UMLS:C4280369|UMLS:C4280370		Depressed cheekbone|Small cheekbone|Small malar bone|Small zygomatic bone|Cheekbone underdevelopment|Decreased size of cheekbone|Underdevelopment of cheekbone|Depressed zygomatic bone|Flattening of the zygomatic bone|Decreased size of zygomatic bone|Hypoplasia of cheekbone|Underdevelopment of zygomatic bone|Hypotrophic cheekbone|Hypotrophic zygomatic bone|Hypotrophy of the cheekbone|Hypotrophy of the zygomatic bone	http://purl.obolibrary.org/obo/HP_0010669	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	biolink:PhenotypicFeature	hp	UMLS:C4023748		Abnormality of the 3rd long bone of foot	http://purl.obolibrary.org/obo/HP_0010672	An abnormality of the third metatarsal bone.
HP:0010674	Abnormality of the curvature of the vertebral column	biolink:PhenotypicFeature	hp	UMLS:C4023747		Abnormal curve of the backbone|Abnormal curve of the spine|Abnormal curving of the spine|Curvature of spine|Curved spine	http://purl.obolibrary.org/obo/HP_0010674	The presence of an abnormal curvature of the vertebral column.
HP:0010675	Abnormal foot bone ossification	biolink:PhenotypicFeature	hp	UMLS:C4020768|UMLS:C4021241|UMLS:C4280367		Abnormality of the mineralisation and ossification of bones of the feet|Abnormal maturation of foot bones|Abnormal ossification involving bones of the feet	http://purl.obolibrary.org/obo/HP_0010675	An abnormality of the formation and mineralization of any bone of the skeleton of foot.
HP:0010676	Mechanical ileus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46420000|UMLS:C0400843			http://purl.obolibrary.org/obo/HP_0010676	
HP:0010677	Enuresis nocturna	biolink:PhenotypicFeature	hp	MSH:D053206|SNOMEDCT_US:8009008|UMLS:C0270327		Nocturnal enuresis	http://purl.obolibrary.org/obo/HP_0010677	Enuresis occurring during sleeping hours.
HP:0010678	Enuresis diurna	biolink:PhenotypicFeature	hp	UMLS:C4023746			http://purl.obolibrary.org/obo/HP_0010678	Enuresis occurring during waking hours of the day.
HP:0010679	Elevated tissue non-specific alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4021240		Elevated tissue non-specific ALP|Elevated alkaline phosphatase, liver/bone/kidney	http://purl.obolibrary.org/obo/HP_0010679	An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010680	Elevated alkaline phosphatase of renal origin	biolink:PhenotypicFeature	hp	UMLS:C4023745		Elevated ALP of renal origin	http://purl.obolibrary.org/obo/HP_0010680	An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010681	Elevated intestinal alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4023744		Elevated intestinal ALP	http://purl.obolibrary.org/obo/HP_0010681	An abnormally increased level of alkaline phosphatase, intestinal type in the blood.
HP:0010682	Elevated placental alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4023743		Elevated placental ALP	http://purl.obolibrary.org/obo/HP_0010682	An abnormally increased level of alkaline phosphatase, placental type in the blood.
HP:0010683	Low tissue non-specific alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4023742		Low tissue non-specific ALP	http://purl.obolibrary.org/obo/HP_0010683	An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
HP:0010684	Low alkaline phosphatase of bone origin	biolink:PhenotypicFeature	hp	UMLS:C4023741		Low ALP of bone origin	http://purl.obolibrary.org/obo/HP_0010684	An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.
HP:0010685	Low alkaline phosphatase of renal origin	biolink:PhenotypicFeature	hp	UMLS:C4023740		Low ALP of renal origin	http://purl.obolibrary.org/obo/HP_0010685	An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.
HP:0010686	Low alkaline phosphatase of hepatic origin	biolink:PhenotypicFeature	hp	UMLS:C4023739		Low ALP of hepatic origin	http://purl.obolibrary.org/obo/HP_0010686	An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.
HP:0010687	Low intestinal alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4023738		Low intestinal ALP	http://purl.obolibrary.org/obo/HP_0010687	An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.
HP:0010688	Low placental alkaline phosphatase	biolink:PhenotypicFeature	hp	UMLS:C4023737		Low placental ALP	http://purl.obolibrary.org/obo/HP_0010688	An abnormally reduced level of alkaline phosphatase, placental type in the blood.
HP:0010689	Mirror image polydactyly	biolink:PhenotypicFeature	hp	MSH:C535689|SNOMEDCT_US:715440003|UMLS:C1851100		Mirror image duplication of digits	http://purl.obolibrary.org/obo/HP_0010689	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 typically resemble fifth fingers/toes.
HP:0010690	Mirror image hand polydactyly	biolink:PhenotypicFeature	hp	UMLS:C4021239	hposlim_core	Mirror image dupliction of fingers	http://purl.obolibrary.org/obo/HP_0010690	Mirror image duplication of digits affecting the hands only.
HP:0010691	Mirror image foot polydactyly	biolink:PhenotypicFeature	hp	UMLS:C4021238		Mirror image dupliction of toes	http://purl.obolibrary.org/obo/HP_0010691	Mirror image duplication of digits affecting the feet.
HP:0010692	2-5 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023736		Webbed 2nd-5th fingers|Webbed index, middle and little finger|Webbed index, middle and pinkie finger|Webbed index, middle and pinky finger	http://purl.obolibrary.org/obo/HP_0010692	Syndactyly with fusion of fingers two to five.
HP:0010693	Pulverulent cataract	biolink:PhenotypicFeature	hp	MSH:C563426|UMLS:C1833118		Pulverulent cataract	http://purl.obolibrary.org/obo/HP_0010693	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	biolink:PhenotypicFeature	hp	UMLS:C4023735			http://purl.obolibrary.org/obo/HP_0010694	A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.
HP:0010695	Sutural cataract	biolink:PhenotypicFeature	hp	UMLS:C4023734			http://purl.obolibrary.org/obo/HP_0010695	A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.
HP:0010696	Polar cataract	biolink:PhenotypicFeature	hp	UMLS:C2025392			http://purl.obolibrary.org/obo/HP_0010696	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	biolink:PhenotypicFeature	hp	UMLS:C1392099		Pyramidal cataract	http://purl.obolibrary.org/obo/HP_0010697	A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.
HP:0010698	Nuclear pulverulent cataract	biolink:PhenotypicFeature	hp	UMLS:C4021237		Central pulverulent cataract|Coppock-like cataract|Pulverulent nuclear cataract|cataracta pulverulenta centralis	http://purl.obolibrary.org/obo/HP_0010698	A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.
HP:0010699	Triangular nuclear cataract	biolink:PhenotypicFeature	hp	UMLS:C4023733			http://purl.obolibrary.org/obo/HP_0010699	A nuclear cataract with a triangular form.
HP:0010700	obsolete Total cataract	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0010700	
HP:0010701	Abnormal immunoglobulin level	biolink:PhenotypicFeature	hp	UMLS:C1855755		Abnormal immunoglobulin concentration|Abnormal serum immunoglobulin concentration|Abnormal serum immunoglobulin levels|Abnormal serum level of immunoglobulin|Immunoglobulin abnormality	http://purl.obolibrary.org/obo/HP_0010701	An abnormal deviation from normal levels of immunoglobulins in blood.
HP:0010702	Increased circulating antibody level	biolink:PhenotypicFeature	hp	MSH:D006942|SNOMEDCT_US:127388009|SNOMEDCT_US:129646001|UMLS:C0020455|UMLS:C0151669|UMLS:C0541985|UMLS:C1306857|UMLS:C2048011		Elevated immunoglobulin levels|Hypergammaglobulinaemia|Hypergammaglobulinemia|Hyperglobulinemia|Increased antibody level in blood|Increased gamma globulin|Increased immunoglobulin level|Increased serum gamma globulin|Raised immunoglobulin levels	http://purl.obolibrary.org/obo/HP_0010702	An increased level of gamma globulin (immunoglobulin) in the blood.
HP:0010704	1-2 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023732		Webbed 1st-2nd finger|Webbed thumb and index finger	http://purl.obolibrary.org/obo/HP_0010704	Syndactyly with fusion of fingers one and two.
HP:0010705	4-5 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023731		Webbed 4th-5th finger	http://purl.obolibrary.org/obo/HP_0010705	Syndactyly with fusion of fingers four and five.
HP:0010706	1-3 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023730		Webbed 1st-3rd finger	http://purl.obolibrary.org/obo/HP_0010706	Syndactyly with fusion of fingers one to three.
HP:0010707	1-4 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023729		Webbed 1st-4th finger	http://purl.obolibrary.org/obo/HP_0010707	Syndactyly with fusion of fingers one to four.
HP:0010708	1-5 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023728		Webbed 1st-5th fingers|Webbed 1-5 fingers	http://purl.obolibrary.org/obo/HP_0010708	Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).
HP:0010709	2-4 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4021236		Webbed index through ring fingers|Syndactyly of second to fourth fingers	http://purl.obolibrary.org/obo/HP_0010709	Syndactyly with fusion of the fingers two to four.
HP:0010710	3-5 finger syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023727		Webbed third, fourth and fifth toes	http://purl.obolibrary.org/obo/HP_0010710	Syndactyly with fusion of fingers three to five.
HP:0010711	1-2 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023726		Webbed first and second toes|Webbed 1st-2nd toes	http://purl.obolibrary.org/obo/HP_0010711	Syndactyly with fusion of toes one and two.
HP:0010712	1-4 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023725		Webbed first through fourth toes	http://purl.obolibrary.org/obo/HP_0010712	Syndactyly with fusion of toes one to four.
HP:0010713	1-5 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4021235		Webbed 1st-5th toes|Syndactyly of all toes	http://purl.obolibrary.org/obo/HP_0010713	Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).
HP:0010714	2-4 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4021234		Webbed 2nd-4th toes|Syndactyly of toes 2, 3 and 4|Syndactyly toes 2-4	http://purl.obolibrary.org/obo/HP_0010714	Syndactyly with fusion of toes two to four.
HP:0010715	2-5 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023724		Webbed 2nd-5th toes	http://purl.obolibrary.org/obo/HP_0010715	Syndactyly with fusion of toes two to five.
HP:0010716	3-5 toe syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023723		Webbed 3rd-5th toes	http://purl.obolibrary.org/obo/HP_0010716	Syndactyly with fusion of toes three to five.
HP:0010717	Osseous syndactyly of toes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:32113001|SNOMEDCT_US:38859008|UMLS:C0158738	hposlim_core	Osseous syndactyly of the toes	http://purl.obolibrary.org/obo/HP_0010717	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	biolink:PhenotypicFeature	hp	UMLS:C4023722|UMLS:C4072880|UMLS:C4072881|UMLS:C4073290		Abnormality of hair texture|Abnormality of hair consistency|Abnormality of hair curl pattern|Abnormality of hair volume	http://purl.obolibrary.org/obo/HP_0010719	An abnormality of the texture of the hair.
HP:0010720	Abnormal hair pattern	biolink:PhenotypicFeature	hp	UMLS:C4023721		Abnormal distribution of hair|Abnormal hair pattern	http://purl.obolibrary.org/obo/HP_0010720	An abnormality of the distribution of hair growth.
HP:0010721	Abnormal hair whorl	biolink:PhenotypicFeature	hp	UMLS:C3280303		Abnormal hair whorl|Abnormal hair whorls|Abnormal whorl of hair	http://purl.obolibrary.org/obo/HP_0010721	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	biolink:PhenotypicFeature	hp	UMLS:C1168239	hposlim_core	Asymmetric ears	http://purl.obolibrary.org/obo/HP_0010722	An asymmetriy, i.e., difference in size, shape or position between the left and right ear.
HP:0010723	Cystic lesions of the pinnae	biolink:PhenotypicFeature	hp	UMLS:C4023720			http://purl.obolibrary.org/obo/HP_0010723	
HP:0010724	Advanced pneumatization of the mastoid process	biolink:PhenotypicFeature	hp	UMLS:C4021828	hposlim_core		http://purl.obolibrary.org/obo/HP_0010724	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	biolink:PhenotypicFeature	hp	UMLS:C4021233		Prominent corneal nerve fibres|Visible corneal nerve fibers	http://purl.obolibrary.org/obo/HP_0010726	Abnormal prominence of the corneal nerve fibers.
HP:0010727	Spontaneous rupture of the globe	biolink:PhenotypicFeature	hp	UMLS:C4023719	hposlim_core		http://purl.obolibrary.org/obo/HP_0010727	Rupture of the eyeball not due to trauma.
HP:0010728	Aplasia of the retina	biolink:PhenotypicFeature	hp	UMLS:C4023718		Absent retina	http://purl.obolibrary.org/obo/HP_0010728	A developmental defect characterized by absence of the retina.
HP:0010729	Cherry red spot of the macula	biolink:PhenotypicFeature	hp	UMLS:C2216370		Macular cherry red spot	http://purl.obolibrary.org/obo/HP_0010729	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253209004|UMLS:C0431449	hposlim_core	Double eyebrow|Duplication of eyebrow	http://purl.obolibrary.org/obo/HP_0010730	This may present as a partial or complete duplication of the eyebrows.
HP:0010731	Extension of eyebrows towards upper eyelid	biolink:PhenotypicFeature	hp	UMLS:C4023717		Extension of eyebrows towards upper eyelid	http://purl.obolibrary.org/obo/HP_0010731	The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.
HP:0010732	Nodular changes affecting the eyelids	biolink:PhenotypicFeature	hp	UMLS:C4023716		Eyelid nodules	http://purl.obolibrary.org/obo/HP_0010732	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	biolink:PhenotypicFeature	hp	UMLS:C1854409		Port-wine stain on eyelid	http://purl.obolibrary.org/obo/HP_0010733	Naevus flammeus localised in the skin of the eyelid.
HP:0010734	Fibrous dysplasia of the bones	biolink:PhenotypicFeature	hp	MSH:D005357|SNOMEDCT_US:10623005|UMLS:C0016063			http://purl.obolibrary.org/obo/HP_0010734	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	biolink:PhenotypicFeature	hp	MSH:D005359|SNOMEDCT_US:36517007|UMLS:C0016065			http://purl.obolibrary.org/obo/HP_0010735	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	biolink:PhenotypicFeature	hp	MSH:D005358|SNOMEDCT_US:89859004|UMLS:C0016064			http://purl.obolibrary.org/obo/HP_0010736	Fibrous dysplasia of the bones were lesions are localized in only one bone.
HP:0010739	Osteopoikilosis	biolink:PhenotypicFeature	hp	MSH:D010023|SNOMEDCT_US:9147009|UMLS:C0029455			http://purl.obolibrary.org/obo/HP_0010739	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82663009|UMLS:C0265513			http://purl.obolibrary.org/obo/HP_0010740	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102572006|UMLS:C0235886|UMLS:C0239340		Fluid accumulation in lower limbs|Lower leg swelling|Pedal oedema|Dependant oedema|Edema of the lower limbs|Leg edema|Peripheral edema of lower extremity|Dependant edema	http://purl.obolibrary.org/obo/HP_0010741	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102558002|UMLS:C0522035		Fluid accumulation in upper limbs|Oedema of the upper limbs	http://purl.obolibrary.org/obo/HP_0010742	An abnormal accumulation of fluid beneath the skin of the arms.
HP:0010743	Short metatarsal	biolink:PhenotypicFeature	hp	UMLS:C1849020	hposlim_core	Short long bone of foot|Hypoplasia of the metatarsal bones|Hypoplastic metatarsals|Short metatarsal bone|Short metatarsals|Shortened metatarsals|Short metatarsal bones	http://purl.obolibrary.org/obo/HP_0010743	Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
HP:0010744	Absent metatarsal bone	biolink:PhenotypicFeature	hp	UMLS:C4021232		Absent long bone of foot|Aplasia of the metatarsal bones	http://purl.obolibrary.org/obo/HP_0010744	A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.
HP:0010745	Aplasia of the phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4021231		Absent bones of the toes|Aphalangia of the toes	http://purl.obolibrary.org/obo/HP_0010745	Absence of a digit or of one or more phalanges of a toe.
HP:0010746	Hypoplasia of the phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4023715		Small toe bones	http://purl.obolibrary.org/obo/HP_0010746	
HP:0010747	Medial flaring of the eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1844562	hposlim_core		http://purl.obolibrary.org/obo/HP_0010747	An abnormal distribution of eyebrow hair growth in the medial direction.
HP:0010748	Ectopic lacrimal punctum	biolink:PhenotypicFeature	hp	UMLS:C4021230	hposlim_core	Abnormal position of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0010748	Positioning of a lacrimal punctum other than at the medial margins of the eyelid.
HP:0010749	Blepharochalasis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:47704002|UMLS:C0005742	hposlim_core	Saggy upper eyelid skin	http://purl.obolibrary.org/obo/HP_0010749	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246815009|UMLS:C0423124|UMLS:C2674149		Baggy eyes|Droopy eyelid skin|Extra eyelid skin|Redundant eyelid skin|Hooding of eyelids|Eyelid dermatochalasia	http://purl.obolibrary.org/obo/HP_0010750	Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.
HP:0010751	Dimple chin	biolink:PhenotypicFeature	hp	UMLS:C1849227	hposlim_core	Chin butt|Chin dent|Chin dimple|Chin skin dimple|Dimple chin|Indentation of chin|Chin dimples|Gelasin of chin	http://purl.obolibrary.org/obo/HP_0010751	A persistent midline depression of the skin over the fat pad of the chin.
HP:0010752	Cleft mandible	biolink:PhenotypicFeature	hp	SNOMEDCT_US:92822004|UMLS:C0685786	hposlim_core	Cleft lower jaw|Mandibular cleft	http://purl.obolibrary.org/obo/HP_0010752	Midline deficiency of the mandible and some or all overlying tissues.
HP:0010753	Midline defect of mandible	biolink:PhenotypicFeature	hp	UMLS:C4023714		Midline cleft of mandible	http://purl.obolibrary.org/obo/HP_0010753	
HP:0010754	Abnormality of the temporomandibular joint	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248401009|SNOMEDCT_US:75630004|UMLS:C0266941|UMLS:C0424721|UMLS:C1865318|UMLS:C4280366		Abnormality of the jaw joint|Deformity of the jaw joint|Malformation of jaw joint|Malformation of the temporomandibular joint|Anomaly of the temporomandibular joint|Deformity of the temporomandibular joint|Derangement of the temporomandibular joint	http://purl.obolibrary.org/obo/HP_0010754	An anomaly of the temporomandibular joint.
HP:0010755	Asymmetry of the maxilla	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235083001|UMLS:C0399519	hposlim_core	Asymmetry of the upper jaw|Asymmetry of upper jaw|Crooked upper jaw|Canted upper jaw|Tilted upper jaw|Uneven upper jaw|Deviation of the upper jaw|Asymmetry of right and left side of the maxilla|Canted maxilla|Crooked maxilla|Tilted maxilla|Unequal sides of maxilla|Uneven maxilla|Deviation of the maxilla	http://purl.obolibrary.org/obo/HP_0010755	Asymmetry between the left and right sides of the maxilla.
HP:0010756	Aplasia/Hypoplasia of the premaxilla	biolink:PhenotypicFeature	hp	UMLS:C4023713		Aplasia/hypoplasia of the intermaxillary bone|Aplasia/hypoplasia of the primary palate bone	http://purl.obolibrary.org/obo/HP_0010756	Absence or underdevelopment of the premaxilla.
HP:0010757	Aplasia of the premaxilla	biolink:PhenotypicFeature	hp	UMLS:C4023712		Absence of the intermaxillary bone|Absence of the premaxilla|Absence of the primary palate bone|Missing premaxilla|Missing primary palate bone|Aplasia of the intermaxillary bone|Aplasia of the primary palate bone|Failure of development of premaxilla|Failure of development of the primary palate bone	http://purl.obolibrary.org/obo/HP_0010757	Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.
HP:0010758	Abnormality of the premaxilla	biolink:PhenotypicFeature	hp	UMLS:C4023711		Abnormality of the intermaxillary bone|Abnormality of the premaxillary bone|Abnormality of the primary palate bone|Abnormality of the intermaxillary segment of the maxilla	http://purl.obolibrary.org/obo/HP_0010758	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	biolink:PhenotypicFeature	hp	UMLS:C2749369	hposlim_core	Anterior position of the premaxilla|Anterior position of the primary palate bone|Prominence of the primary palate bone|Premaxillary bone excess|Prominence of the intermaxillary bone	http://purl.obolibrary.org/obo/HP_0010759	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	biolink:PhenotypicFeature	hp	UMLS:C3553754	hposlim_core	Absent toe|Absent toes|Aplasia of toe|Aplasia of the toes	http://purl.obolibrary.org/obo/HP_0010760	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	biolink:PhenotypicFeature	hp	UMLS:C1851059|UMLS:C4280365	hposlim_core	Columella, broad|Columella, wide|Fullness of columella|Increased width of columella|Hyperplasia of columella	http://purl.obolibrary.org/obo/HP_0010761	Increased width of the columella.
HP:0010762	Chordoma	biolink:PhenotypicFeature	hp	MSH:D002817|NCIT:C2947|SNOMEDCT_US:50007008|UMLS:C0008487			http://purl.obolibrary.org/obo/HP_0010762	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	biolink:PhenotypicFeature	hp	UMLS:C4021229|UMLS:C4280364	hposlim_core	Ala higher than columella|Columella, low insertion	http://purl.obolibrary.org/obo/HP_0010763	Insertion of the posterior columella below the nasal base.
HP:0010764	Short eyelashes	biolink:PhenotypicFeature	hp	UMLS:C2748682		Decreased length of eyelashes|Short eyelashes	http://purl.obolibrary.org/obo/HP_0010764	Decreased length of the eyelashes (subjective).
HP:0010765	Palmar hyperkeratosis	biolink:PhenotypicFeature	hp	UMLS:C4023710			http://purl.obolibrary.org/obo/HP_0010765	Hyperkeratosis affecting the palm of the hand.
HP:0010766	Ectopic calcification	biolink:PhenotypicFeature	hp	UMLS:C3806226			http://purl.obolibrary.org/obo/HP_0010766	Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
HP:0010767	Sacrococcygeal pilonidal abnormality	biolink:PhenotypicFeature	hp	UMLS:C4023709			http://purl.obolibrary.org/obo/HP_0010767	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	biolink:PhenotypicFeature	hp	MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925	hposlim_core	Pilonidal cyst	http://purl.obolibrary.org/obo/HP_0010769	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	biolink:PhenotypicFeature	hp	MSH:D010864|SNOMEDCT_US:47639008|UMLS:C0031925			http://purl.obolibrary.org/obo/HP_0010770	
HP:0010771	Pilonidal abscess	biolink:PhenotypicFeature	hp	SNOMEDCT_US:85224001|UMLS:C3537055		Sacrococcygeal fistula	http://purl.obolibrary.org/obo/HP_0010771	A hair-containing cyst or sinus usually in the coccygeal region.
HP:0010772	Anomalous pulmonary venous return	biolink:PhenotypicFeature	hp	MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400			http://purl.obolibrary.org/obo/HP_0010772	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	biolink:PhenotypicFeature	hp	Fyler:2030|SNOMEDCT_US:68237008|UMLS:C0158634		Partial anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0010773	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	biolink:PhenotypicFeature	hp	Fyler:3031|ICD-10:Q24.2|UMLS:C4023708		Triatrial heart	http://purl.obolibrary.org/obo/HP_0010774	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	biolink:PhenotypicFeature	hp	Fyler:2760|SNOMEDCT_US:110409004|SNOMEDCT_US:66403007|UMLS:C0221214		Vascular ring of aorta	http://purl.obolibrary.org/obo/HP_0010775	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	biolink:PhenotypicFeature	hp	UMLS:C4023707			http://purl.obolibrary.org/obo/HP_0010776	Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.
HP:0010777	Bronchomegaly	biolink:PhenotypicFeature	hp	UMLS:C4023706			http://purl.obolibrary.org/obo/HP_0010777	Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.
HP:0010778	Tracheomegaly	biolink:PhenotypicFeature	hp	UMLS:C4023705			http://purl.obolibrary.org/obo/HP_0010778	Marked widening of the trachea.
HP:0010779	Large pelvis bone	biolink:PhenotypicFeature	hp	UMLS:C4019074|UMLS:C4072882	hposlim_core	Large pelvis|Large pelvis bone	http://purl.obolibrary.org/obo/HP_0010779	The presence of an abnormally large pelvis.
HP:0010780	Hyperacusis	biolink:PhenotypicFeature	hp	MSH:D012001|SNOMEDCT_US:194399009|SNOMEDCT_US:25289003|UMLS:C0034880	hposlim_core	Loudness intolerance	http://purl.obolibrary.org/obo/HP_0010780	Over-sensitivity to certain frequency ranges of sound.
HP:0010781	Skin dimple	biolink:PhenotypicFeature	hp	SNOMEDCT_US:301854006|UMLS:C0578531		Skin dimples	http://purl.obolibrary.org/obo/HP_0010781	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	biolink:PhenotypicFeature	hp	UMLS:C4023704		Bi-acromial dimples|Shoulder dimples|Acromial dimple	http://purl.obolibrary.org/obo/HP_0010782	A subtype of skin dimples occurring in the shoulder region.
HP:0010783	Erythema	biolink:PhenotypicFeature	hp	MSH:D004890|MSH:D005483|SNOMEDCT_US:20255002|SNOMEDCT_US:238810007|SNOMEDCT_US:247441003|SNOMEDCT_US:271811009|SNOMEDCT_US:444827008|SNOMEDCT_US:70819003|SNOMEDCT_US:86735004|UMLS:C0016382|UMLS:C0041834	hposlim_core	Redness of skin or mucous membrane	http://purl.obolibrary.org/obo/HP_0010783	Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0010784	Uterine neoplasm	biolink:PhenotypicFeature	hp	MSH:D014594|NCIT:C3262|SNOMEDCT_US:126908007|UMLS:C0042138		Uterine cancer|Uterine tumor|Uterine neoplasia	http://purl.obolibrary.org/obo/HP_0010784	A tumor (abnormal growth of tissue) of the uterus.
HP:0010785	Gonadal neoplasm	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4021228		Gonadal neoplasia	http://purl.obolibrary.org/obo/HP_0010785	A tumor (abnormal growth of tissue) of a gonad.
HP:0010786	Urinary tract neoplasm	biolink:PhenotypicFeature	hp	MSH:D014571|NCIT:C3262|SNOMEDCT_US:126879004|SNOMEDCT_US:254913005|UMLS:C0042076		Urinary tract neoplasia	http://purl.obolibrary.org/obo/HP_0010786	The presence of a neoplasm of the urinary system.
HP:0010787	Genital neoplasm	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C0679347|UMLS:C4020767		Genital tumor|Genital neoplasia	http://purl.obolibrary.org/obo/HP_0010787	A tumor (abnormal growth of tissue) of the genital system.
HP:0010788	Testicular neoplasm	biolink:PhenotypicFeature	hp	MSH:D013736|NCIT:C3262|SNOMEDCT_US:126900000|UMLS:C0039590		Testicular cancer|Testicular tumor|Testicular neoplasia	http://purl.obolibrary.org/obo/HP_0010788	The presence of a neoplasm of the testis.
HP:0010789	Abnormality of the Leydig cells	biolink:PhenotypicFeature	hp	UMLS:C4023703			http://purl.obolibrary.org/obo/HP_0010789	
HP:0010790	Hyoplasia of the Leydig cells	biolink:PhenotypicFeature	hp	UMLS:C4023702			http://purl.obolibrary.org/obo/HP_0010790	Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.
HP:0010791	Hyperplasia of the Leydig cells	biolink:PhenotypicFeature	hp	SNOMEDCT_US:76085008|UMLS:C0023600			http://purl.obolibrary.org/obo/HP_0010791	Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.
HP:0010793	Bifid nail	biolink:PhenotypicFeature	hp	SNOMEDCT_US:110992006|UMLS:C0544857	hposlim_core	Notched nail|duplicated nail	http://purl.obolibrary.org/obo/HP_0010793	A digit with two nails, with at least some soft tissue between them.
HP:0010794	Impaired visuospatial constructive cognition	biolink:PhenotypicFeature	hp	UMLS:C4023701			http://purl.obolibrary.org/obo/HP_0010794	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	biolink:PhenotypicFeature	hp	UMLS:C4023700			http://purl.obolibrary.org/obo/HP_0010795	A glioma affecting the cerebellum.
HP:0010796	Brainstem glioma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:444545003|UMLS:C0677865			http://purl.obolibrary.org/obo/HP_0010796	A glioma affecting the brainstem.
HP:0010797	Hemangioblastoma	biolink:PhenotypicFeature	hp	MSH:D018325|NCIT:C3801|SNOMEDCT_US:81201000|UMLS:C0206734		Haemangioblastoma	http://purl.obolibrary.org/obo/HP_0010797	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:239136007|UMLS:C0406814	hposlim_core	Lip freckle|Ephelis of lip|Labial lentigo|Lip lentigo	http://purl.obolibrary.org/obo/HP_0010798	Increased focal pigmentation of the vermilion of the lips.
HP:0010799	Pinealoma	biolink:PhenotypicFeature	hp	MSH:D010871|NCIT:C3328|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941			http://purl.obolibrary.org/obo/HP_0010799	A neoplasm of the pineal gland.
HP:0010800	Absent cupid's bow	biolink:PhenotypicFeature	hp	UMLS:C2053435	hposlim_core	Absent cupid's bow|Lack of cupid's bow|Missing cupid's bow|Agenesis of cupid's bow|Failure of development of cupid's bow|Aplasia of cupid's bow	http://purl.obolibrary.org/obo/HP_0010800	Lack of paramedian peaks and median notch of the upper lip vermilion.
HP:0010801	Underdeveloped nasolabial fold	biolink:PhenotypicFeature	hp	UMLS:C4021227	hposlim_core	Flat nasolabial fold|Nasolabial crease, hypoplastic|Nasolabial crease, underdeveloped|Nasolabial fold, hypoplastic|Shallow nasolabial fold	http://purl.obolibrary.org/obo/HP_0010801	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	biolink:PhenotypicFeature	hp	UMLS:C4023699		Darkening of skin around the mouth|Increased pigmentation around the mouth	http://purl.obolibrary.org/obo/HP_0010802	Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.
HP:0010803	Everted upper lip vermilion	biolink:PhenotypicFeature	hp	UMLS:C3275452|UMLS:C4023698|UMLS:C4280363	hposlim_core	Outward turned upper lip|Drooping upper lip|Protruding upper lip|Eclabium of upper lip|Everted prominent upper lip|Everted upper lip	http://purl.obolibrary.org/obo/HP_0010803	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	biolink:PhenotypicFeature	hp	UMLS:C1839767|UMLS:C1850072|UMLS:C1853383	hposlim_core	Tented mouth|Tented upper lip|Inverted V-shaped upper lip	http://purl.obolibrary.org/obo/HP_0010804	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	biolink:PhenotypicFeature	hp	UMLS:C3553471	hposlim_core	Upturned corners of mouth|Upturned mouth|Upturned oral commisures	http://purl.obolibrary.org/obo/HP_0010805	Oral commissures positioned superior to the midline labial fissure.
HP:0010806	U-Shaped upper lip vermilion	biolink:PhenotypicFeature	hp	UMLS:C1856202		Carp-like mouth|Carp-shaped mouth|Fish mouth|Large, carp-shaped mouth|Wide, carp-shaped mouth	http://purl.obolibrary.org/obo/HP_0010806	Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
HP:0010807	Open bite	biolink:PhenotypicFeature	hp	MSH:D024343|SNOMEDCT_US:35580009|UMLS:C0266061	hposlim_core	Absence of overlap of upper and lower teeth|Open bite|Open bite between upper and lower teeth	http://purl.obolibrary.org/obo/HP_0010807	Visible space between the dental arches in occlusion.
HP:0010808	Protruding tongue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249872000|SNOMEDCT_US:285503005|UMLS:C0241442	hposlim_core	Prominent tongue|Protruding tongue|Tongue sticking out of mouth|Lingual prolapse|Lingual prominence|Lingual protrusion|Prolapse of tongue|Tongue protrusion	http://purl.obolibrary.org/obo/HP_0010808	Tongue extending beyond the alveolar ridges or teeth at rest.
HP:0010809	Broad uvula	biolink:PhenotypicFeature	hp	UMLS:C3693299	hposlim_core	Wide uvula	http://purl.obolibrary.org/obo/HP_0010809	Increased width of the uvula (subjective finding).
HP:0010810	Long uvula	biolink:PhenotypicFeature	hp	UMLS:C4023697|UMLS:C4280362	hposlim_core	Hyperplasia of uvula|Long palatine uvula|Elongated uvula	http://purl.obolibrary.org/obo/HP_0010810	Increased length of the uvula.
HP:0010811	Narrow uvula	biolink:PhenotypicFeature	hp	UMLS:C4023696	hposlim_core	Narrow palatine uvula|Thin uvula	http://purl.obolibrary.org/obo/HP_0010811	Decreased width of the uvula.
HP:0010812	Short uvula	biolink:PhenotypicFeature	hp	UMLS:C1401781		Hypoplastic uvula|Short palatine uvula|Blunt uvula	http://purl.obolibrary.org/obo/HP_0010812	Decreased length of the uvula.
HP:0010813	Abnormal number of hair whorls	biolink:PhenotypicFeature	hp	UMLS:C4023695	hposlim_core	Abnormal number of hair swirls|Abnormal number of hair whorls|Double crown (hair whorls)|Extra hair swirls|Extra hair whorl|Supernumary hair swirls|Supernumary hair whorl	http://purl.obolibrary.org/obo/HP_0010813	More than two clockwise hair whorls.
HP:0010814	Abnormal position of hair whorl	biolink:PhenotypicFeature	hp	UMLS:C4023694	hposlim_core	Abnormal location of hair swirl|Abnormal position of hair whorl	http://purl.obolibrary.org/obo/HP_0010814	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	biolink:PhenotypicFeature	hp	MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|UMLS:C3854181		Naevus sebaceous|Organoid nevus|Sebaceous mole|Sebaceous naevus|Sebaceous nevus	http://purl.obolibrary.org/obo/HP_0010815	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	biolink:PhenotypicFeature	hp	MSH:C580062|SNOMEDCT_US:239107007|SNOMEDCT_US:25201003|UMLS:C0334082		Epidermal nevi	http://purl.obolibrary.org/obo/HP_0010816	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	biolink:PhenotypicFeature	hp	MSH:D054000|SNOMEDCT_US:239112008|SNOMEDCT_US:52298009|SNOMEDCT_US:707136009|UMLS:C3854181			http://purl.obolibrary.org/obo/HP_0010817	A type of nevus sebaceous with a linear form, raised borders and yellowish color.
HP:0010818	Generalized tonic seizure	biolink:PhenotypicFeature	hp	UMLS:C1836508		Generalized tonic seizures|Generalised tonic seizure|Generalised tonic seizures|Generalised hypertonic seizure|Generalized hypertonic seizure|Hypertonic seizures	http://purl.obolibrary.org/obo/HP_0010818	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:189198006|SNOMEDCT_US:42365007|UMLS:C0270846|UMLS:C1836509		Astatic seizures|Atonic seizures|Drop seizures|Sudden loss of muscle tone|Hypotonic seizures|Astatic seizure|Drop attacks|Hypotonic seizure	http://purl.obolibrary.org/obo/HP_0010819	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	biolink:PhenotypicFeature	hp	UMLS:C4023693		Dacrystic seizures|Dacrystic seizure	http://purl.obolibrary.org/obo/HP_0010820	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	biolink:PhenotypicFeature	hp	MSH:D004828|SNOMEDCT_US:89525009|UMLS:C0270820		Gelastic seizures|Gelastic seizure	http://purl.obolibrary.org/obo/HP_0010821	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	biolink:PhenotypicFeature	hp	MSH:D012607|SNOMEDCT_US:2228002|UMLS:C0235068			http://purl.obolibrary.org/obo/HP_0010822	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	biolink:PhenotypicFeature	hp	UMLS:C4023692	hposlim_core	Cranial suture ridges	http://purl.obolibrary.org/obo/HP_0010823	An overlap of the bony plates of the skull in an infant, with or without early closure.
HP:0010824	Abnormal fifth cranial nerve morphology	biolink:PhenotypicFeature	hp	UMLS:C4021226		Abnormal trigeminal nerve morphology|Abnormality of the fifth cranial nerve|Abnormality of the nervus trigeminus	http://purl.obolibrary.org/obo/HP_0010824	Any structural abormality of the fifth cranial nerve.
HP:0010825	Abnormality of the eleventh cranial nerve	biolink:PhenotypicFeature	hp	UMLS:C4021225		Abnormality of cranial nerve XI|Abnormality of the accessory nerve	http://purl.obolibrary.org/obo/HP_0010825	Abnormality of the eleventh cranial nerve.
HP:0010826	Abnormality of the twelfth cranial nerve	biolink:PhenotypicFeature	hp	UMLS:C4021224		Abnormality of cranial nerve 12|Abnormality of cranial nerve xii|Abnormality of the hypoglossal nerve	http://purl.obolibrary.org/obo/HP_0010826	Abnormality of the twelfth cranial nerve.
HP:0010827	Abnormality of the seventh cranial nerve	biolink:PhenotypicFeature	hp	UMLS:C4021223		Abnormality of the facial nerve	http://purl.obolibrary.org/obo/HP_0010827	Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.
HP:0010828	Hemifacial spasm	biolink:PhenotypicFeature	hp	MSH:D019569|SNOMEDCT_US:13753008|UMLS:C0278152		Spasms on one side of the face|Hemifacial spasms	http://purl.obolibrary.org/obo/HP_0010828	Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.
HP:0010829	Impaired temperature sensation	biolink:PhenotypicFeature	hp	UMLS:C4021222		Abnormality of temperature sensation|Impaired temperature sensation|Loss of temperature sensation	http://purl.obolibrary.org/obo/HP_0010829	A reduced ability to discriminate between different temperatures.
HP:0010830	Impaired tactile sensation	biolink:PhenotypicFeature	hp	UMLS:C4021221		Impaired touch sensation|Loss of tactile sensation	http://purl.obolibrary.org/obo/HP_0010830	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	biolink:PhenotypicFeature	hp	UMLS:C1856691		Abnormality of proprioception	http://purl.obolibrary.org/obo/HP_0010831	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	biolink:PhenotypicFeature	hp	UMLS:C4023691			http://purl.obolibrary.org/obo/HP_0010832	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	biolink:PhenotypicFeature	hp	UMLS:C4023690			http://purl.obolibrary.org/obo/HP_0010833	Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.
HP:0010834	Trophic changes related to pain	biolink:PhenotypicFeature	hp	UMLS:C4021220		Trophic changes	http://purl.obolibrary.org/obo/HP_0010834	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87275002|UMLS:C0278136			http://purl.obolibrary.org/obo/HP_0010835	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	biolink:PhenotypicFeature	hp	UMLS:C4020766|UMLS:C4023689		Abnormal copper levels	http://purl.obolibrary.org/obo/HP_0010836	An abnormal concentration of copper.
HP:0010837	Decreased circulating ceruloplasmin concentration	biolink:PhenotypicFeature	hp	UMLS:C0240997		Decreased serum ceruloplasmin|Hypoceruloplasminaemia|Decreased serum ceruloplasminA|Hypoceruloplasminemia	http://purl.obolibrary.org/obo/HP_0010837	Decreased concentration of ceruloplasmin in the blood.
HP:0010838	High nonceruloplasmin-bound serum copper	biolink:PhenotypicFeature	hp	UMLS:C1848459			http://purl.obolibrary.org/obo/HP_0010838	An increased concentration of non ceruloplasmin bound copper in the blood.
HP:0010839	Increased urinary copper concentration	biolink:PhenotypicFeature	hp	UMLS:C4023688		Increased urinary copper concentration	http://purl.obolibrary.org/obo/HP_0010839	An increased concentration of copper in the urine.
HP:0010841	Multifocal epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4021219		Multifocal EEG abnormality	http://purl.obolibrary.org/obo/HP_0010841	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	biolink:PhenotypicFeature	hp	UMLS:C4021218		EEG: focal slow activity|EEG: localised slow activity|EEG: localized slow activity	http://purl.obolibrary.org/obo/HP_0010843	Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).
HP:0010844	EEG with multifocal slow activity	biolink:PhenotypicFeature	hp	UMLS:C4023687			http://purl.obolibrary.org/obo/HP_0010844	Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010845	EEG with generalized slow activity	biolink:PhenotypicFeature	hp	UMLS:C4021217		EEG with generalised slow activity|EEG: generalised slow activity|EEG: generalized slow activity	http://purl.obolibrary.org/obo/HP_0010845	Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010846	EEG with persistent abnormal rhythmic activity	biolink:PhenotypicFeature	hp	UMLS:C4021216		EEG: persistent abnormal rhythmic activity	http://purl.obolibrary.org/obo/HP_0010846	
HP:0010847	EEG with spike-wave complexes (<2.5 Hz)	biolink:PhenotypicFeature	hp	UMLS:C4023686			http://purl.obolibrary.org/obo/HP_0010847	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)	biolink:PhenotypicFeature	hp	UMLS:C4023685			http://purl.obolibrary.org/obo/HP_0010848	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)	biolink:PhenotypicFeature	hp	UMLS:C4020765|UMLS:C4023684		EEG with 3-4-Hz spike waves	http://purl.obolibrary.org/obo/HP_0010849	The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
HP:0010850	EEG with spike-wave complexes	biolink:PhenotypicFeature	hp	UMLS:C4023683			http://purl.obolibrary.org/obo/HP_0010850	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	biolink:PhenotypicFeature	hp	UMLS:C1969156			http://purl.obolibrary.org/obo/HP_0010851	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	biolink:PhenotypicFeature	hp	UMLS:C3552821		Photoparoxysmal response on EEG	http://purl.obolibrary.org/obo/HP_0010852	EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
HP:0010853	EEG with periodic lateralized epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4021215		EEG: periodic lateralized epileptiform discharges	http://purl.obolibrary.org/obo/HP_0010853	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	biolink:PhenotypicFeature	hp	UMLS:C4021214		EEG with generalised low amplitude activity|EEG: generalised low amplitude activity	http://purl.obolibrary.org/obo/HP_0010854	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	biolink:PhenotypicFeature	hp	UMLS:C4021213		EEG with localised low amplitude activity|EEG: localised low amplitude activity	http://purl.obolibrary.org/obo/HP_0010855	An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010856	EEG with periodic complexes	biolink:PhenotypicFeature	hp	UMLS:C4021212		EEG: periodic complexes|Radermecker complexes	http://purl.obolibrary.org/obo/HP_0010856	Periodically occurring generalized periodic complexes.
HP:0010857	EEG with periodic abnormalities	biolink:PhenotypicFeature	hp	UMLS:C4021211		EEG: periodic abnormalities	http://purl.obolibrary.org/obo/HP_0010857	Periodically recurring abnormalities in the EEG.
HP:0010858	EEG with hyperventilation-induced epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4023682			http://purl.obolibrary.org/obo/HP_0010858	Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
HP:0010859	Frank breech presentation	biolink:PhenotypicFeature	hp	MSH:D001946|SNOMEDCT_US:18559007|UMLS:C0233286			http://purl.obolibrary.org/obo/HP_0010859	A kind of breech presentation in which the hips are flexed and the knees are extended.
HP:0010860	Complete breech presentation	biolink:PhenotypicFeature	hp	MSH:D001946|SNOMEDCT_US:49168004|UMLS:C0233283			http://purl.obolibrary.org/obo/HP_0010860	A kind of breech presentation in which the hips are flexed and the knees are flexed.
HP:0010861	Incomplete breech presentation	biolink:PhenotypicFeature	hp	MSH:D001946|SNOMEDCT_US:38049006|UMLS:C0426146			http://purl.obolibrary.org/obo/HP_0010861	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	biolink:PhenotypicFeature	hp	UMLS:C4023681			http://purl.obolibrary.org/obo/HP_0010862	A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
HP:0010863	Receptive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:229736005|UMLS:C0454642			http://purl.obolibrary.org/obo/HP_0010863	A delay in the acquisition of the ability to understand the speech of others.
HP:0010864	Intellectual disability, severe	biolink:PhenotypicFeature	hp	SNOMEDCT_US:40700009|UMLS:C0036857		Early and severe mental retardation|Intellectual disability, severe|Mental retardation, severe|Severe mental retardation	http://purl.obolibrary.org/obo/HP_0010864	Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
HP:0010865	Oppositional defiant disorder	biolink:PhenotypicFeature	hp	MSH:D019958|SNOMEDCT_US:18941000|UMLS:C0029121			http://purl.obolibrary.org/obo/HP_0010865	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	biolink:PhenotypicFeature	hp	UMLS:C0238577		Abdominal wall defect|Congenital anterior abdominal wall defect	http://purl.obolibrary.org/obo/HP_0010866	An incomplete closure of the abdominal wall.
HP:0010867	Dyssynergia	biolink:PhenotypicFeature	hp	MSH:D001259|SNOMEDCT_US:20262006|SNOMEDCT_US:39384006|UMLS:C0004134			http://purl.obolibrary.org/obo/HP_0010867	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	biolink:PhenotypicFeature	hp	UMLS:C4023680			http://purl.obolibrary.org/obo/HP_0010868	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77743009|UMLS:C0234355			http://purl.obolibrary.org/obo/HP_0010869	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	biolink:PhenotypicFeature	hp	MSH:D001259|SNOMEDCT_US:445458007|SNOMEDCT_US:69131009|UMLS:C0037921|UMLS:C0240991		Afferent ataxia|Ataxia, sensory|Spinal ataxia	http://purl.obolibrary.org/obo/HP_0010871	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59931005|UMLS:C0520888		EKG: T-wave inversion	http://purl.obolibrary.org/obo/HP_0010872	An inversion of the T-wave (which is normally positive).
HP:0010873	Cervical spinal cord atrophy	biolink:PhenotypicFeature	hp	UMLS:C0742191			http://purl.obolibrary.org/obo/HP_0010873	Atrophy of the cervical segment of the spinal cord.
HP:0010874	Tendon xanthomatosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69880002|UMLS:C0221253		Tendon xanthomas	http://purl.obolibrary.org/obo/HP_0010874	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:413813004|UMLS:C1531651			http://purl.obolibrary.org/obo/HP_0010875	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	biolink:PhenotypicFeature	hp	UMLS:C4020763|UMLS:C4020764|UMLS:C4023679		Blood protein disease|Abnormal circulating protein level|Abnormality of circulating protein level|Serum protein abnormality	http://purl.obolibrary.org/obo/HP_0010876	An abnormal level of a circulating protein in the blood.
HP:0010877	Monocular strabismus	biolink:PhenotypicFeature	hp	UMLS:C4023678		Unilateral strabismus	http://purl.obolibrary.org/obo/HP_0010877	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	biolink:PhenotypicFeature	hp	MSH:C537852|UMLS:C0948242		Foetal cystic hygroma	http://purl.obolibrary.org/obo/HP_0010878	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.
HP:0010879	Postnatal cystic hygroma	biolink:PhenotypicFeature	hp	UMLS:C4023677			http://purl.obolibrary.org/obo/HP_0010879	
HP:0010880	Increased nuchal translucency	biolink:PhenotypicFeature	hp	UMLS:C4023676			http://purl.obolibrary.org/obo/HP_0010880	The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).
HP:0010881	Abnormality of the umbilical cord	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90009001|UMLS:C0266785		Umbilical cord issue	http://purl.obolibrary.org/obo/HP_0010881	An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.
HP:0010882	Pulmonary valve atresia	biolink:PhenotypicFeature	hp	Fyler:1001|MSH:D018633|SNOMEDCT_US:204342004|SNOMEDCT_US:448564004|UMLS:C0242855			http://purl.obolibrary.org/obo/HP_0010882	A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.
HP:0010883	Aortic valve atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51442005|UMLS:C0265843		Aortic atresia	http://purl.obolibrary.org/obo/HP_0010883	A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
HP:0010884	Acromelia	biolink:PhenotypicFeature	hp	UMLS:C4023675	hposlim_core		http://purl.obolibrary.org/obo/HP_0010884	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	biolink:PhenotypicFeature	hp	MSH:D010020|SNOMEDCT_US:240196003|SNOMEDCT_US:398199007|SNOMEDCT_US:72756009|UMLS:C0029445|UMLS:C0085660|UMLS:C0520474|UMLS:C0877326		Death of bone due to decreased blood supply|Aseptic bone necrosis|Aseptic necrosis|Bone infarction|Ischemic bone necrosis|Osteochondronecrosis|Osteonecrosis	http://purl.obolibrary.org/obo/HP_0010885	A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
HP:0010886	Osteochondritis Dissecans	biolink:PhenotypicFeature	hp	MSH:D010008|SNOMEDCT_US:82562007|UMLS:C0029421		Osteochondrosis dissecans	http://purl.obolibrary.org/obo/HP_0010886	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	biolink:PhenotypicFeature	hp	UMLS:C4023674			http://purl.obolibrary.org/obo/HP_0010888	Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.
HP:0010889	Morbus Kienboeck	biolink:PhenotypicFeature	hp	MSH:D010020|SNOMEDCT_US:360466009|SNOMEDCT_US:367356000|SNOMEDCT_US:84062004|UMLS:C0022682		Kienboeck's disease|Kienböck's disease|Lunatomalacia	http://purl.obolibrary.org/obo/HP_0010889	Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.
HP:0010890	Morbus Osgood-Schlatter	biolink:PhenotypicFeature	hp	MSH:D055034|SNOMEDCT_US:72047008|SNOMEDCT_US:79353000|UMLS:C0029376		Osgood Schlatter disease	http://purl.obolibrary.org/obo/HP_0010890	Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.
HP:0010891	Morbus Scheuermann	biolink:PhenotypicFeature	hp	MSH:D012544|SNOMEDCT_US:53406005|UMLS:C0036310		Calve disease|Juvenile Osteochondrosis of the spine|Scheuermann disease|Scheuermann kyphosis|Sherman's Disease	http://purl.obolibrary.org/obo/HP_0010891	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	biolink:PhenotypicFeature	hp	UMLS:C4023673			http://purl.obolibrary.org/obo/HP_0010892	Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.
HP:0010893	Abnormal circulating phenylalanine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023672		Abnormality of phenylalanine metabolism	http://purl.obolibrary.org/obo/HP_0010893	Any deviation from the normal concentration of phenylalanine in the blood circulation.
HP:0010894	Abnormal circulating serine family amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023671		Abnormality of serine family amino acid metabolism	http://purl.obolibrary.org/obo/HP_0010894	Any deviation from the normal concentration of a serine family amino acid in the blood circulation.
HP:0010895	Abnormal circulating glycine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023670			http://purl.obolibrary.org/obo/HP_0010895	Any deviation from the normal concentration of glycine in the blood circulation.
HP:0010896	Hypersarcosinemia	biolink:PhenotypicFeature	hp	MSH:C537236|SNOMEDCT_US:64852002|UMLS:C0268563		High plasma sarcosine levels	http://purl.obolibrary.org/obo/HP_0010896	An elevated plasma concentration of sarcosine.
HP:0010897	Hypersarcosinuria	biolink:PhenotypicFeature	hp	UMLS:C4023669		High urine sarcosine levels	http://purl.obolibrary.org/obo/HP_0010897	An elevated urinary concentration of sarcosine.
HP:0010898	Abnormal circulating sarcosine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023668			http://purl.obolibrary.org/obo/HP_0010898	An deviation from the normal concentration of sarcosine in the blood circulation.
HP:0010899	Abnormal circulating aspartate family amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023667			http://purl.obolibrary.org/obo/HP_0010899	Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.
HP:0010900	Abnormal circulating threonine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023666		Abnormality of threonine metabolism	http://purl.obolibrary.org/obo/HP_0010900	Any deviation from the normal concentration of threonine in the blood circulation.
HP:0010901	Abnormal circulating methionine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023665		Abnormality of methionine metabolism	http://purl.obolibrary.org/obo/HP_0010901	Any deviation from the normal concentration of methionine in the blood circulation.
HP:0010902	Abnormal circulating glutamine family amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023664			http://purl.obolibrary.org/obo/HP_0010902	Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.
HP:0010903	Abnormal circulating glutamine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023663			http://purl.obolibrary.org/obo/HP_0010903	Any deviation from the normal concentration of glutamine in the blood circulation.
HP:0010904	Abnormal circulating histidine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023662		Abnormality of histidine metabolism	http://purl.obolibrary.org/obo/HP_0010904	An abnormality of a histidine metabolic process.
HP:0010905	obsolete Abnormality of histidine metabolism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0010905	
HP:0010906	Hyperhistidinemia	biolink:PhenotypicFeature	hp	MSH:C538320|SNOMEDCT_US:124628005|SNOMEDCT_US:410058007|UMLS:C0220992		High blood histidine level|Histidinemia	http://purl.obolibrary.org/obo/HP_0010906	An increased concentration of histidine in the blood.
HP:0010907	Abnormal circulating proline concentration	biolink:PhenotypicFeature	hp	UMLS:C4023661			http://purl.obolibrary.org/obo/HP_0010907	Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.
HP:0010908	Abnormal circulating lysine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023660		Abnormality of lysine metabolism	http://purl.obolibrary.org/obo/HP_0010908	Any deviation from the normal concentration of lysine in the blood circulation.
HP:0010909	Abnormal circulating arginine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023659		Abnormality of arginine metabolism	http://purl.obolibrary.org/obo/HP_0010909	Any deviation from the normal concentration of arginine in the blood circulation.
HP:0010910	Hypervalinemia	biolink:PhenotypicFeature	hp	MSH:C536524|SNOMEDCT_US:47719001|UMLS:C0268573		High blood valine concentration	http://purl.obolibrary.org/obo/HP_0010910	An increased concentration of valine in the blood.
HP:0010911	Hyperleucinemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24013007|UMLS:C0268576		High blood leucine concentration	http://purl.obolibrary.org/obo/HP_0010911	An increased concentration of leucine in the blood.
HP:0010912	Abnormal circulating isoleucine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023658			http://purl.obolibrary.org/obo/HP_0010912	Any deviation from the normal concentration of isoleucine in the blood circulation.
HP:0010913	Hyperisoleucinemia	biolink:PhenotypicFeature	hp	UMLS:C4023657		High blood isoleucine concentration	http://purl.obolibrary.org/obo/HP_0010913	An increased concentration of isoleucine in the blood.
HP:0010914	Abnormal circulating valine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023656		Abnormality of valine metabolism	http://purl.obolibrary.org/obo/HP_0010914	Any deviation from the normal circulation of valine in the blood circulation.
HP:0010915	Abnormal circulating pyruvate family amino acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023655		Abnormality of pyruvate family amino acid metabolism	http://purl.obolibrary.org/obo/HP_0010915	An abnormality of a pyruvate family amino acid metabolic process.
HP:0010916	Abnormal circulating alanine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023654		Abnormality of alanine metabolism	http://purl.obolibrary.org/obo/HP_0010916	An abnormality of an alanine metabolic process.
HP:0010917	Abnormal circulating tyrosine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023653			http://purl.obolibrary.org/obo/HP_0010917	Any deviation from the normal concentration of tyrosine in the blood circulation.
HP:0010918	Abnormal circulating cysteine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023652			http://purl.obolibrary.org/obo/HP_0010918	An abnormality of a cysteine metabolic process.
HP:0010919	Abnormal circulating homocysteine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023651			http://purl.obolibrary.org/obo/HP_0010919	An abnormality of a homocysteine metabolic process.
HP:0010920	Zonular cataract	biolink:PhenotypicFeature	hp	MSH:C535342|UMLS:C1861821			http://purl.obolibrary.org/obo/HP_0010920	Zonular cataracts are defined to be cataracts that affect specific regions of the lens.
HP:0010921	Coralliform cataract	biolink:PhenotypicFeature	hp	UMLS:C1392104			http://purl.obolibrary.org/obo/HP_0010921	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	biolink:PhenotypicFeature	hp	MSH:D002386|UMLS:C0524524			http://purl.obolibrary.org/obo/HP_0010922	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:315352000|UMLS:C1112768			http://purl.obolibrary.org/obo/HP_0010923	A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.
HP:0010924	Posterior cortical cataract	biolink:PhenotypicFeature	hp	UMLS:C4023650			http://purl.obolibrary.org/obo/HP_0010924	A cataract that affects the posterior part of the cortex of the lens.
HP:0010925	Nuclear punctate cataract	biolink:PhenotypicFeature	hp	UMLS:C4023649			http://purl.obolibrary.org/obo/HP_0010925	
HP:0010926	Aculeiform cataract	biolink:PhenotypicFeature	hp	MSH:C566162|UMLS:C1861832		Fasciculiform cataract|Frosted cataract|Needle-shaped cataract	http://purl.obolibrary.org/obo/HP_0010926	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	biolink:PhenotypicFeature	hp	UMLS:C4023648		Abnormality of divalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010927	An abnormality of divalent inorganic cation homeostasis.
HP:0010928	obsolete Increased urinary orotic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0010928	
HP:0010929	Abnormal blood cation concentration	biolink:PhenotypicFeature	hp	UMLS:C4023646		Abnormality of cation homeostasis	http://purl.obolibrary.org/obo/HP_0010929	An abnormality of cation homeostasis.
HP:0010930	Abnormal blood monovalent inorganic cation concentration	biolink:PhenotypicFeature	hp	UMLS:C4023645		Abnormality of monovalent inorganic cation homeostasis	http://purl.obolibrary.org/obo/HP_0010930	An abnormality of monovalent inorganic cation homeostasis.
HP:0010931	Abnormal blood sodium concentration	biolink:PhenotypicFeature	hp	UMLS:C4023644		Abnormal blood Na+ levels|Abnormal circulating Na concentration|Abnormality of sodium homeostasis	http://purl.obolibrary.org/obo/HP_0010931	An abnormal concentration of sodium.
HP:0010932	Abnormal circulating nucleobase concentration	biolink:PhenotypicFeature	hp	UMLS:C4020762|UMLS:C4023643		Abnormal nucleoside levels	http://purl.obolibrary.org/obo/HP_0010932	An abnormality of a nucleobase metabolic process.
HP:0010933	Hyperxanthinemia	biolink:PhenotypicFeature	hp	UMLS:C4023642			http://purl.obolibrary.org/obo/HP_0010933	An increased level of xanthine in the blood circulation.
HP:0010934	Xanthinuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:190919008|SNOMEDCT_US:54627004|UMLS:C0220988		Increased urinary xanthine	http://purl.obolibrary.org/obo/HP_0010934	An increased concentration of xanthine in the urine.
HP:0010935	Abnormality of the upper urinary tract	biolink:PhenotypicFeature	hp	UMLS:C4023641		Abnormality of the upper urinary tract	http://purl.obolibrary.org/obo/HP_0010935	An abnormality of the upper urinary tract.
HP:0010936	Abnormality of the lower urinary tract	biolink:PhenotypicFeature	hp	UMLS:C4023640			http://purl.obolibrary.org/obo/HP_0010936	An abnormality of the lower urinary tract.
HP:0010937	Abnormality of the nasal skeleton	biolink:PhenotypicFeature	hp	UMLS:C4023639|UMLS:C4280361		Abnormality of the nasal skeleton|Deformity of the bones of the nose|Deformity of the nasal skeleton|Distortion of the bones of the nose|Distortion of the nasal skeleton|Malformation of the bones of the nose|Malformation of the nasal skeleton|Anomaly of the nasal skeleton	http://purl.obolibrary.org/obo/HP_0010937	An abnormality of the nasal skeleton.
HP:0010938	Abnormality of the external nose	biolink:PhenotypicFeature	hp	UMLS:C2164724|UMLS:C4023638|UMLS:C4280360		Abnormality of the external nose|Anomaly of the external nose|Deformity of the external nose|Malformation of the external nose	http://purl.obolibrary.org/obo/HP_0010938	An abnormality of the external nose.
HP:0010939	Abnormality of the nasal bone	biolink:PhenotypicFeature	hp	UMLS:C4023637		Abnormality of the nasal bone|Deformity of the nasal bones|Malformation of the nasal bones|Anomaly of the nasal bones	http://purl.obolibrary.org/obo/HP_0010939	An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.
HP:0010940	Aplasia/Hypoplasia of the nasal bone	biolink:PhenotypicFeature	hp	UMLS:C4023636			http://purl.obolibrary.org/obo/HP_0010940	Absence or underdevelopment of the nasal bone.
HP:0010941	Aplasia of the nasal bone	biolink:PhenotypicFeature	hp	MSH:C562753|SNOMEDCT_US:91900007|UMLS:C0339850|UMLS:C0339851|UMLS:C4023635		Failure of development of the nasal bone|Lack of development of the nasal bone|Absence of the nasal bone|Missing nasal bone|Agenesis of the nasal bone	http://purl.obolibrary.org/obo/HP_0010941	Absence of the nasal bone.
HP:0010942	Echogenic intracardiac focus	biolink:PhenotypicFeature	hp	UMLS:C4023634			http://purl.obolibrary.org/obo/HP_0010942	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	biolink:PhenotypicFeature	hp	MSH:D058535|UMLS:C2936423		Echogenic foetal bowel|Echogenic bowel	http://purl.obolibrary.org/obo/HP_0010943	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	biolink:PhenotypicFeature	hp	UMLS:C4023633		Abnormality of the renal pelvis	http://purl.obolibrary.org/obo/HP_0010944	An abnormality of the renal pelvis.
HP:0010945	Fetal pyelectasis	biolink:PhenotypicFeature	hp	MSH:D058536|SNOMEDCT_US:430035004|UMLS:C2317073		Foetal pyelectasis|Fetal renal pelvic dilatation|Mild fetal hydronephrosis	http://purl.obolibrary.org/obo/HP_0010945	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	biolink:PhenotypicFeature	hp	UMLS:C1868864			http://purl.obolibrary.org/obo/HP_0010946	The presence of dilatation of the renal pelvis.
HP:0010947	Abnormality of ductus venosus blood flow	biolink:PhenotypicFeature	hp	UMLS:C4023632			http://purl.obolibrary.org/obo/HP_0010947	A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.
HP:0010948	Abnormality of the fetal cardiovascular system	biolink:PhenotypicFeature	hp	UMLS:C4021210		Abnormality of the foetal cardiovascular system|Abnormality of the fetal circulation system	http://purl.obolibrary.org/obo/HP_0010948	An abnormality of the fetal circulation system or fetal echocardiogram.
HP:0010949	Abnormality of umbilical vein blood flow	biolink:PhenotypicFeature	hp	UMLS:C4023631			http://purl.obolibrary.org/obo/HP_0010949	A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.
HP:0010950	Abnormality of the fourth ventricle	biolink:PhenotypicFeature	hp	UMLS:C4023630			http://purl.obolibrary.org/obo/HP_0010950	An abnormality of the fourth ventricle.
HP:0010951	Abnormality of the third ventricle	biolink:PhenotypicFeature	hp	UMLS:C4023629			http://purl.obolibrary.org/obo/HP_0010951	An abnormality of the third ventricle.
HP:0010952	Mild fetal ventriculomegaly	biolink:PhenotypicFeature	hp	UMLS:C4023628		Mild foetal ventriculomegaly	http://purl.obolibrary.org/obo/HP_0010952	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	biolink:PhenotypicFeature	hp	MSH:D006849|SNOMEDCT_US:230746009|SNOMEDCT_US:82346000|UMLS:C0549423			http://purl.obolibrary.org/obo/HP_0010953	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:268180007|SNOMEDCT_US:39589002|UMLS:C0265856|UMLS:C0344963		Underdeveloped right heart|Hypoplastic right heart syndrome	http://purl.obolibrary.org/obo/HP_0010954	Underdevelopment of the right-sided structures of the heart.
HP:0010955	Dilatation of the bladder	biolink:PhenotypicFeature	hp	UMLS:C0549253			http://purl.obolibrary.org/obo/HP_0010955	The presence of a dilated urinary bladder.
HP:0010956	Fetal megacystis	biolink:PhenotypicFeature	hp	MSH:C536139|UMLS:C2931117		Foetal megacystis	http://purl.obolibrary.org/obo/HP_0010956	Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.
HP:0010957	Congenital posterior urethral valve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253900005|UMLS:C0238506		Posterior urethral valve|Posterior urethral valves	http://purl.obolibrary.org/obo/HP_0010957	A developmental defect resulting in an obstructing membrane in the posterior male urethra.
HP:0010958	Bilateral renal agenesis	biolink:PhenotypicFeature	hp	MSH:C536482|SNOMEDCT_US:41962002|UMLS:C1609433			http://purl.obolibrary.org/obo/HP_0010958	A bilateral form of agenesis of the kidney.
HP:0010959	Congenital cystic adenomatoid malformation of the lung	biolink:PhenotypicFeature	hp	MSH:D015615|SNOMEDCT_US:111318005|UMLS:C0010668		CCAM|Congenital cystic disease of the lung|Cystic adenomatoid lung disease	http://purl.obolibrary.org/obo/HP_0010959	Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis.
HP:0010960	Bronchopulmonary sequestration	biolink:PhenotypicFeature	hp	MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288			http://purl.obolibrary.org/obo/HP_0010960	The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.
HP:0010961	Intralobar sequestration	biolink:PhenotypicFeature	hp	UMLS:C4023627			http://purl.obolibrary.org/obo/HP_0010961	A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.
HP:0010962	Extralobar sequestration	biolink:PhenotypicFeature	hp	UMLS:C4023626			http://purl.obolibrary.org/obo/HP_0010962	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	biolink:PhenotypicFeature	hp	UMLS:C4023625		Absence of stomach bubble on foetal sonography	http://purl.obolibrary.org/obo/HP_0010963	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	biolink:PhenotypicFeature	hp	UMLS:C4023624			http://purl.obolibrary.org/obo/HP_0010964	Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.
HP:0010965	Abnormal circulating phytanic acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023623		Abnormal circulating phytanic acid level	http://purl.obolibrary.org/obo/HP_0010965	Any deviation from the normal concentration of phytanic acid in the blood circulation.
HP:0010966	Abnormal circulating fatty-acid anion concentration	biolink:PhenotypicFeature	hp	UMLS:C4021209		Abnormality of fatty acid anion	http://purl.obolibrary.org/obo/HP_0010966	Any deviation from the normal concentration of a fatty acid anion in the blood circulation.
HP:0010967	Abnormal circulating carnitine concentration	biolink:PhenotypicFeature	hp	UMLS:C4020761|UMLS:C4021855		Carnitine levels abnormal	http://purl.obolibrary.org/obo/HP_0010967	Any deviation from the normal concentration of carnitine in the blood circulation.
HP:0010968	Abnormality of liposaccharide metabolism	biolink:PhenotypicFeature	hp	UMLS:C4023622			http://purl.obolibrary.org/obo/HP_0010968	An abnormality of liposaccharide metabolism.
HP:0010969	Abnormality of glycolipid metabolism	biolink:PhenotypicFeature	hp	UMLS:C4023621			http://purl.obolibrary.org/obo/HP_0010969	An abnormality of glycolipid metabolism.
HP:0010970	Blood group antigen abnormality	biolink:PhenotypicFeature	hp	UMLS:C4023620			http://purl.obolibrary.org/obo/HP_0010970	An abnormality of an erythrocyte cell surface molecule.
HP:0010971	Absence of Lutheran antigen on erythrocytes	biolink:PhenotypicFeature	hp	UMLS:C4023619			http://purl.obolibrary.org/obo/HP_0010971	Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.
HP:0010972	Anemia of inadequate production	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70730006|UMLS:C0392708|UMLS:C0678199		Anaemia of inadequate production|Anemia, dyserythropoietic|Defective erythropoiesis|Dyserythropoietic anemia|Ineffective erythropoiesis	http://purl.obolibrary.org/obo/HP_0010972	A kind of anemia characterized by inadequate production of erythrocytes.
HP:0010974	Abnormal myeloid leukocyte morphology	biolink:PhenotypicFeature	hp	UMLS:C4023618		Abnormality of myeloid leukocytes	http://purl.obolibrary.org/obo/HP_0010974	An abnormality of myeloid leukocytes.
HP:0010975	Abnormal B cell count	biolink:PhenotypicFeature	hp	UMLS:C4021208		Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell count|Abnormality of B cell numbers	http://purl.obolibrary.org/obo/HP_0010975	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	biolink:PhenotypicFeature	hp	UMLS:C1855067		Low B cell count|B cell deficiency|B cell lymphopenia|Decreased B cell count|Reduction in B cell number	http://purl.obolibrary.org/obo/HP_0010976	An abnormal decrease from the normal count of B cells.
HP:0010977	Abnormal phagocytosis	biolink:PhenotypicFeature	hp	UMLS:C4023617			http://purl.obolibrary.org/obo/HP_0010977	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	biolink:PhenotypicFeature	hp	UMLS:C4023616			http://purl.obolibrary.org/obo/HP_0010978	A functional abnormality of the immune system.
HP:0010979	Abnormality of lipoprotein cholesterol concentration	biolink:PhenotypicFeature	hp	UMLS:C4023615		Abnormality of the level of lipoprotein cholesterol	http://purl.obolibrary.org/obo/HP_0010979	An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.
HP:0010980	Hyperlipoproteinemia	biolink:PhenotypicFeature	hp	MSH:D006951|SNOMEDCT_US:3744001|UMLS:C0020476			http://purl.obolibrary.org/obo/HP_0010980	An abnormal increase in the level of lipoprotein cholesterol in the blood.
HP:0010981	Hypolipoproteinemia	biolink:PhenotypicFeature	hp	MSH:D007009|SNOMEDCT_US:267436001|SNOMEDCT_US:363140000|UMLS:C0020623		Lack of fat in blood	http://purl.obolibrary.org/obo/HP_0010981	An abnormal decrease in the level of lipoprotein cholesterol in the blood.
HP:0010982	Polygenic inheritance	biolink:PhenotypicFeature	hp	MSH:D020412|UMLS:C1148552			http://purl.obolibrary.org/obo/HP_0010982	A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.
HP:0010983	Oligogenic inheritance	biolink:PhenotypicFeature	hp	MSH:D020412|UMLS:C1136026			http://purl.obolibrary.org/obo/HP_0010983	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	biolink:PhenotypicFeature	hp	UMLS:C4023614			http://purl.obolibrary.org/obo/HP_0010984	A type of multifactorial inheritance governed by the simultaneous action of two gene loci.
HP:0010985	Gonosomal inheritance	biolink:PhenotypicFeature	hp	UMLS:C4023613			http://purl.obolibrary.org/obo/HP_0010985	A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.
HP:0010987	Abnormal cellular immune system morphology	biolink:PhenotypicFeature	hp	UMLS:C4023612			http://purl.obolibrary.org/obo/HP_0010987	An abnormality of the morphology or counts of the cells that make up the immune system.
HP:0010988	Abnormality of the extrinsic pathway	biolink:PhenotypicFeature	hp	UMLS:C4023611			http://purl.obolibrary.org/obo/HP_0010988	An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.
HP:0010989	Abnormality of the intrinsic pathway	biolink:PhenotypicFeature	hp	UMLS:C4023610			http://purl.obolibrary.org/obo/HP_0010989	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	biolink:PhenotypicFeature	hp	UMLS:C4023609			http://purl.obolibrary.org/obo/HP_0010990	An abnormality of blood coagulation, common pathway.
HP:0010991	Abnormal morphology of the abdominal musculature	biolink:PhenotypicFeature	hp	UMLS:C4023608		Abnormality of the abdominal musculature	http://purl.obolibrary.org/obo/HP_0010991	An abnormality of the abdominal musculature.
HP:0010992	Stress urinary incontinence	biolink:PhenotypicFeature	hp	MSH:D014550|SNOMEDCT_US:22220005|UMLS:C0042025			http://purl.obolibrary.org/obo/HP_0010992	Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.
HP:0010993	Abnormality of the cerebral subcortex	biolink:PhenotypicFeature	hp	UMLS:C4021207		Abnormality of the cerebral medulla	http://purl.obolibrary.org/obo/HP_0010993	An abnormality of the cerebral subcortex.
HP:0010994	Abnormal corpus striatum morphology	biolink:PhenotypicFeature	hp	UMLS:C4023607		Abnormality of the neostriatum|Abnormality of the striate nucleus|Abnormality of the striatum	http://purl.obolibrary.org/obo/HP_0010994	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	biolink:PhenotypicFeature	hp	UMLS:C4023606			http://purl.obolibrary.org/obo/HP_0010995	Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.
HP:0010996	Abnormal circulating monocarboxylic acid cocentration	biolink:PhenotypicFeature	hp	UMLS:C4023605			http://purl.obolibrary.org/obo/HP_0010996	Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.
HP:0010997	Chromosomal breakage induced by ionizing radiation	biolink:PhenotypicFeature	hp	UMLS:C4021206		Chromosomal breakage induced by ionising radiation|Increased cellular radiosensitivity|Radiation-induced chromosome instability	http://purl.obolibrary.org/obo/HP_0010997	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	biolink:PhenotypicFeature	hp	UMLS:C4023604			http://purl.obolibrary.org/obo/HP_0010998	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	biolink:PhenotypicFeature	hp	UMLS:C4023603		Absent optic tract	http://purl.obolibrary.org/obo/HP_0010999	
HP:0011000	Aplasia/Hypoplasia of the optic tract	biolink:PhenotypicFeature	hp	UMLS:C4023602		Absent/small optic tract|Absent/underdeveloped optic tract	http://purl.obolibrary.org/obo/HP_0011000	
HP:0011001	Increased bone mineral density	biolink:PhenotypicFeature	hp	MSH:D010026|SNOMEDCT_US:49347007|UMLS:C0029464		Increased bone density|Increased bone mineral density|Osteosclerosis|Osteosclerosis of bones	http://purl.obolibrary.org/obo/HP_0011001	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	biolink:PhenotypicFeature	hp	MSH:D010022|SNOMEDCT_US:1926006|SNOMEDCT_US:367489004|UMLS:C0029454		Harder, denser, fracture-prone bones|Albers-Schoenberg disease|Albers-Schonberg disease|Albers-Schönberg disease|Marble bone disease	http://purl.obolibrary.org/obo/HP_0011002	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34187009|UMLS:C0271183	hposlim_core	Severe near sightedness|Severely close sighted|Severely near sighted|Severe myopia|Severe myopia (> -6.00 diopters)	http://purl.obolibrary.org/obo/HP_0011003	A severe form of myopia with greater than -6.00 diopters.
HP:0011004	Abnormal systemic arterial morphology	biolink:PhenotypicFeature	hp	Fyler:2600|SNOMEDCT_US:234119001|UMLS:C0151489|UMLS:C4021205		Abnormal systemic artery morphology|Abnormality of the systemic arterial tree|Systemic artery abnormality|Arterial abnormalities	http://purl.obolibrary.org/obo/HP_0011004	An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.
HP:0011005	Mixed cirrhosis	biolink:PhenotypicFeature	hp	UMLS:C1392669			http://purl.obolibrary.org/obo/HP_0011005	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	biolink:PhenotypicFeature	hp	UMLS:C4023601		Abnormality of the musculature of the neck|Neck muscle issue|Abnormality of cervical musculature	http://purl.obolibrary.org/obo/HP_0011006	An abnormality of the neck musculature.
HP:0011008	Temporal pattern	biolink:PhenotypicFeature	hp	UMLS:C4021204		Speed of onset	http://purl.obolibrary.org/obo/HP_0011008	The speed at which disease manifestations appear and develop.
HP:0011009	Acute	biolink:PhenotypicFeature	hp	SNOMEDCT_US:272118002|UMLS:C0205178		Acute onset	http://purl.obolibrary.org/obo/HP_0011009	Sudden appearance of disease manifestations over a short period of time.
HP:0011010	Chronic	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90734009|UMLS:C0205191		Chronic	http://purl.obolibrary.org/obo/HP_0011010	Slow, creeping onset, slow progress and long continuance of disease manifestations.
HP:0011011	Subacute	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19939008|UMLS:C0205365			http://purl.obolibrary.org/obo/HP_0011011	Somewhat rapid onset and change of disease manifestations.
HP:0011012	Abnormal circulating polysaccharide concentration	biolink:PhenotypicFeature	hp	UMLS:C4023600			http://purl.obolibrary.org/obo/HP_0011012	A deviation from the normal concentration of a polysaccharide in the blood circulation.
HP:0011013	Abnormal circulating carbohydrate concentration	biolink:PhenotypicFeature	hp	UMLS:C4023599			http://purl.obolibrary.org/obo/HP_0011013	A deviation from the normal concentration of a carbohydrate in the blood circulation.
HP:0011014	Abnormal glucose homeostasis	biolink:PhenotypicFeature	hp	UMLS:C4023598			http://purl.obolibrary.org/obo/HP_0011014	Abnormality of glucose homeostasis.
HP:0011015	Abnormal blood glucose concentration	biolink:PhenotypicFeature	hp	UMLS:C4023597		Abnormality of blood glucose concentration	http://purl.obolibrary.org/obo/HP_0011015	An abnormality of the concentration of glucose in the blood.
HP:0011016	Abnormality of urine glucose concentration	biolink:PhenotypicFeature	hp	UMLS:C4023596			http://purl.obolibrary.org/obo/HP_0011016	An abnormality of the concentration of glucose in the urine.
HP:0011017	Abnormal cellular physiology	biolink:PhenotypicFeature	hp	UMLS:C4023595		Abnormality of cell physiology	http://purl.obolibrary.org/obo/HP_0011017	An abnormality in a cellular process.
HP:0011018	Abnormality of the cell cycle	biolink:PhenotypicFeature	hp	UMLS:C4023594		Abnormality of the cell cycle	http://purl.obolibrary.org/obo/HP_0011018	An abnormality of the cell cycle.
HP:0011019	Abnormality of chromosome condensation	biolink:PhenotypicFeature	hp	UMLS:C4023593			http://purl.obolibrary.org/obo/HP_0011019	An abnormality of chromosome condensation.
HP:0011020	Abnormality of mucopolysaccharide metabolism	biolink:PhenotypicFeature	hp	UMLS:C4023592			http://purl.obolibrary.org/obo/HP_0011020	An abnormality of the metabolism of mucopolysaccharide.
HP:0011021	Abnormality of circulating enzyme level	biolink:PhenotypicFeature	hp	UMLS:C4023591			http://purl.obolibrary.org/obo/HP_0011021	
HP:0011022	Abnormal circulating unsaturated fatty acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023590			http://purl.obolibrary.org/obo/HP_0011022	A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.
HP:0011023	Abnormal circulating prostaglandin circulation	biolink:PhenotypicFeature	hp	UMLS:C4023589			http://purl.obolibrary.org/obo/HP_0011023	Any deviation from the normal concentration of a prostaglandin in the blood circulation.
HP:0011024	Abnormality of the gastrointestinal tract	biolink:PhenotypicFeature	hp	MSH:D004066|MSH:D005767|SNOMEDCT_US:119292006|SNOMEDCT_US:25374005|SNOMEDCT_US:53619000|UMLS:C0012242|UMLS:C0017178|UMLS:C4023588		Abnormality of the GI tract|Abnormality of the gastrointestinal tract|Digestive system disease|Gastrointestinal disease	http://purl.obolibrary.org/obo/HP_0011024	An abnormality of the gastrointestinal tract.
HP:0011025	Abnormal cardiovascular system physiology	biolink:PhenotypicFeature	hp	UMLS:C4023587		Abnormality of cardiovascular system physiology	http://purl.obolibrary.org/obo/HP_0011025	Abnormal functionality of the cardiovascular system.
HP:0011026	Aplasia/Hypoplasia of the vagina	biolink:PhenotypicFeature	hp	UMLS:C4023586		Absent/small vagina|Absent/underdeveloped vagina	http://purl.obolibrary.org/obo/HP_0011026	Aplasia or developmental hypoplasia of the vagina.
HP:0011027	Abnormal fallopian tube morphology	biolink:PhenotypicFeature	hp	UMLS:C0281842		Abnormality of the fallopian tube	http://purl.obolibrary.org/obo/HP_0011027	An abnormality of the fallopian tube.
HP:0011028	Abnormality of blood circulation	biolink:PhenotypicFeature	hp	UMLS:C4020760|UMLS:C4023585		Blood circulation disorder	http://purl.obolibrary.org/obo/HP_0011028	An abnormality of blood circulation.
HP:0011029	Internal hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C1390214		Internal bleeding|Internal haemorrhage	http://purl.obolibrary.org/obo/HP_0011029	The presence of hemorrhage within the body.
HP:0011030	Abnormal blood transition element cation concentration	biolink:PhenotypicFeature	hp	UMLS:C4023584		Abnormality of transition element cation homeostasis	http://purl.obolibrary.org/obo/HP_0011030	An abnormality of the homeostasis (concentration) of transition element cation.
HP:0011031	Abnormality of iron homeostasis	biolink:PhenotypicFeature	hp	UMLS:C4023583			http://purl.obolibrary.org/obo/HP_0011031	An abnormality of the homeostasis (concentration) of iron cation.
HP:0011032	Abnormality of fluid regulation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1860003|SNOMEDCT_US:190902006|UMLS:C2364164		Abnormality of fluid regulation|Fluid imbalance	http://purl.obolibrary.org/obo/HP_0011032	An abnormality of the regulation of body fluids.
HP:0011033	Impairment of fructose metabolism	biolink:PhenotypicFeature	hp	UMLS:C4023581			http://purl.obolibrary.org/obo/HP_0011033	An impairment of a fructose metabolic process.
HP:0011034	Amyloidosis	biolink:PhenotypicFeature	hp	MSH:D000686|SNOMEDCT_US:17602002|UMLS:C0002726		Amyloid disease	http://purl.obolibrary.org/obo/HP_0011034	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	biolink:PhenotypicFeature	hp	UMLS:C4023580		Abnormality of renal cortex morphology	http://purl.obolibrary.org/obo/HP_0011035	An abnormality of the cortex of the kidney.
HP:0011036	Abnormality of renal excretion	biolink:PhenotypicFeature	hp	MP:0005555|UMLS:C4023579			http://purl.obolibrary.org/obo/HP_0011036	An altered ability of the kidneys to void urine and/or specific substances.
HP:0011037	Decreased urine output	biolink:PhenotypicFeature	hp	UMLS:C3887784			http://purl.obolibrary.org/obo/HP_0011037	A decreased rate of urine production.
HP:0011038	Abnormality of renal resorption	biolink:PhenotypicFeature	hp	UMLS:C4023578			http://purl.obolibrary.org/obo/HP_0011038	An abnormality of renal absorption.
HP:0011039	Abnormality of the helix	biolink:PhenotypicFeature	hp	UMLS:C1856660	hposlim_core	Abnormal helices|Helix abnormal	http://purl.obolibrary.org/obo/HP_0011039	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	Abnormality of the intrahepatic bile duct	biolink:PhenotypicFeature	hp	UMLS:C4023577			http://purl.obolibrary.org/obo/HP_0011040	An abnormality of the intrahepatic bile duct.
HP:0011041	Aplasia/Hypoplasia of the cervical spine	biolink:PhenotypicFeature	hp	UMLS:C4023576		Absent/small cervical spine|Absent/underdeveloped cervical spine	http://purl.obolibrary.org/obo/HP_0011041	Aplasia or developmental hypoplasia of the cervical vertebral column.
HP:0011042	Abnormal blood potassium concentration	biolink:PhenotypicFeature	hp	UMLS:C4023575		Abnormal blood K concentration|Abnormality of potassium homeostasis	http://purl.obolibrary.org/obo/HP_0011042	An abnormal concentration of potassium.
HP:0011043	Abnormality of circulating adrenocorticotropin level	biolink:PhenotypicFeature	hp	UMLS:C4023574		Abnormality of circulating ACTH level|Abnormality of circulating corticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating adrenocorticotropin level	http://purl.obolibrary.org/obo/HP_0011043	An abnormal concentration of corticotropin in the blood.
HP:0011044	Abnormal number of permanent teeth	biolink:PhenotypicFeature	hp	UMLS:C4023573		Abnormal number of adult teeth|Abnormal number of permanent teeth|Abnormal complement of permanent teeth|Abnormal number of secondary dentition|Abnormal permanent tooth count	http://purl.obolibrary.org/obo/HP_0011044	The presence of an altered number of of permanent teeth.
HP:0011045	Agenesis of permanent maxillary central incisor	biolink:PhenotypicFeature	hp	UMLS:C4023572|UMLS:C4280358|UMLS:C4280359		Absence of permanent upper front tooth|Missing adult upper central incisor|Missing permanent upper front tooth|Agenesis of adult maxillary central incisor|Failure of development of permanent maxillary central incisor|Absence of permanent maxillary central incisor|Absence of permanent upper central incisor|Missing permanent maxillary central incisor|Missing permanent upper central incisor	http://purl.obolibrary.org/obo/HP_0011045	Agenesis of upper secondary incisor.
HP:0011046	Agenesis of primary maxillary central incisor	biolink:PhenotypicFeature	hp	UMLS:C4023571|UMLS:C4280357		Absence of upper front baby tooth|Missing upper front baby tooth|Missing upper front milk tooth|Agenesis of deciduous maxillary central incisor|Failure of development of deciduous maxillary central incisor|Failure of development of primary maxillary central incisor|Absence of deciduous maxillary central incisor|Absence of primary maxillary central incisor|Missing deciduous maxillary central incisor|Missing primary maxillary central incisor	http://purl.obolibrary.org/obo/HP_0011046	Agenesis of upper central primary incisor.
HP:0011047	Agenesis of primary mandibular central incisor	biolink:PhenotypicFeature	hp	UMLS:C4023570|UMLS:C4280355|UMLS:C4280356		Missing lower front baby tooth|Missing lower front milk tooth|Agenesis of deciduous lower central incisor|Agenesis of primary lower central incisor|Failure of development of deciduous mandibular central incisor|Failure of development of primary mandibular central incisor|Absence of deciduous mandibular central incisor|Absence of primary mandibular central incisor|Missing deciduous mandibular central incisor|Missing lower central incisor milk tooth|Missing lower front primary tooth|Missing primary mandibular central incisor	http://purl.obolibrary.org/obo/HP_0011047	Agenesis of lower primary incisor.
HP:0011048	Agenesis of permanent mandibular central incisor	biolink:PhenotypicFeature	hp	UMLS:C4023569|UMLS:C4280354		Absence of permanent lower front tooth|Missing adult lower central incisor|Missing permanent lower front tooth|Agenesis of adult mandibular central incisor|Failure of development of permanent mandibular central incisor|Absence of permanent lower central incisor|Absence of permanent mandibular central incisor|Missing permanent lower central incisor|Missing permanent mandibular central incisor	http://purl.obolibrary.org/obo/HP_0011048	Agenesis of lower secondary incisor.
HP:0011049	Agenesis of primary maxillary lateral incisor	biolink:PhenotypicFeature	hp	UMLS:C4023568|UMLS:C4280353		Agenesis of deciduous maxillary lateral incisor|Failure of development of deciduous maxillary lateral incisor|Failure of development of primary maxillary lateral incisor|Absence of deciduous maxillary lateral incisor|Absence of primary maxillary lateral incisor|Missing deciduous maxillary lateral incisor|Missing primary maxillary lateral incisor	http://purl.obolibrary.org/obo/HP_0011049	Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.
HP:0011050	Agenesis of permanent maxillary lateral incisor	biolink:PhenotypicFeature	hp	UMLS:C4023567|UMLS:C4280352		Agenesis of permanent upper lateral incisor|Failure of development of permanent maxillary lateral incisor|Failure of development of permanent upper lateral incisor|Absence of permanent maxillary lateral incisor|Missing permanent maxillary lateral incisor|Missing permanent upper lateral incisor	http://purl.obolibrary.org/obo/HP_0011050	Agenesis of one or more upper lateral secondary incisor.
HP:0011051	Agenesis of premolar	biolink:PhenotypicFeature	hp	UMLS:C4023566|UMLS:C4280351		Absence of premolar|Missing premolar|Agenesis of bicuspid|Failure of development of bicuspid|Failure of development of premolar|Absence of bicuspid|Missing bicuspid	http://purl.obolibrary.org/obo/HP_0011051	Agenesis of premolar tooth.
HP:0011052	Agenesis of maxillary premolar	biolink:PhenotypicFeature	hp	UMLS:C4023565|UMLS:C4280350		Absence of upper premolar|Missing upper premolar|Agenesis of maxillary bicuspid|Failure of development of maxillary bicuspid|Failure of development of maxillary premolar|Absence of maxillary bicuspid|Absence of maxillary premolar|Missing maxillary premolar|Missing upper bicuspid	http://purl.obolibrary.org/obo/HP_0011052	Agenesis of maxillary premolar.
HP:0011053	Agenesis of mandibular premolar	biolink:PhenotypicFeature	hp	UMLS:C4023564|UMLS:C4280349		Absence of lower premolar|Missing lower premolar|Failure of development of mandibular premolar|Absence of mandibular premolar|Missing mandibular premolar	http://purl.obolibrary.org/obo/HP_0011053	Agenesis of mandibular premolar.
HP:0011054	Agenesis of molar	biolink:PhenotypicFeature	hp	UMLS:C4021203|UMLS:C4280348		Absent molars|Absence of molar|Missing molar|Failure of development of molar	http://purl.obolibrary.org/obo/HP_0011054	Agenesis of molar tooth.
HP:0011055	Agenesis of permanent molar	biolink:PhenotypicFeature	hp	UMLS:C4023563|UMLS:C4280347		Absence of adult molar|Missing adult molar|Missing permanent molar|Agenesis of secondary molar|Failure of development of permanent molar|Failure of development of secondary molar|Absence of permanent molar	http://purl.obolibrary.org/obo/HP_0011055	Agenesis of secondary molar tooth.
HP:0011056	Agenesis of first permanent molar tooth	biolink:PhenotypicFeature	hp	UMLS:C4023562|UMLS:C4280346		Absence of six year molar|Missing first permanent molar|Missing six year molar|Agenesis of six year molar|Failure of development of first permanent molar|Failure of development of six year molar|Absence of first permanent molar	http://purl.obolibrary.org/obo/HP_0011056	Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.
HP:0011057	Agenesis of second permanent molar	biolink:PhenotypicFeature	hp	UMLS:C4023561|UMLS:C4280257		Absence of twelve year molar|Missing twelve year molar|Agenesis of twelve year molar|Failure of development of second permanent molar|Failure of development of twelve year molar|Absence of second permanent molar|Missing second permanent molar	http://purl.obolibrary.org/obo/HP_0011057	Agenesis of either mandibular second permanent molar or maxillary second permanent molar.
HP:0011058	Generalized periodontitis	biolink:PhenotypicFeature	hp	UMLS:C4023560|UMLS:C4280345		Widespread gum disease|Generalised periodontitis|Generalized gum disease|Generalized periodontal disease	http://purl.obolibrary.org/obo/HP_0011058	A generalized form of periodontitis.
HP:0011059	Localized periodontitis	biolink:PhenotypicFeature	hp	UMLS:C4023559|UMLS:C4280344		Limited area of gum disease|Localized gum disease|Localised periodontitis|Localized periodontal disease	http://purl.obolibrary.org/obo/HP_0011059	A localized form of periodontitis.
HP:0011060	Dentinogenesis imperfecta limited to primary teeth	biolink:PhenotypicFeature	hp	MSH:D003805|SNOMEDCT_US:109492001|UMLS:C0011430|UMLS:C4023558		Dentinogenesis imperfecta of baby teeth|Dentin dysplasia	http://purl.obolibrary.org/obo/HP_0011060	Developmental dysplasia of dentin affecting only the primary dentition.
HP:0011061	Abnormality of dental structure	biolink:PhenotypicFeature	hp	UMLS:C4023557		Abnormality of tooth part|Abnormality of tooth structure	http://purl.obolibrary.org/obo/HP_0011061	An abnormality of the structure or composition of the teeth.
HP:0011062	Misalignment of incisors	biolink:PhenotypicFeature	hp	UMLS:C4023556|UMLS:C4280343		Abnormality of position of incisors|Malposition of incisors|Abnormality of alignment of incisors|Crooked front teeth|Crooked incisors|Misalignment of incisors	http://purl.obolibrary.org/obo/HP_0011062	Misaligned incisor.
HP:0011063	Abnormality of incisor morphology	biolink:PhenotypicFeature	hp	UMLS:C4023555		Abnormality of shape of incisor	http://purl.obolibrary.org/obo/HP_0011063	An abnormality of morphology of the incisor tooth.
HP:0011064	Abnormal number of incisors	biolink:PhenotypicFeature	hp	UMLS:C4023554		Abnormal number of front teeth|Abnormal number of incisors	http://purl.obolibrary.org/obo/HP_0011064	The presence of an altered number of the incisor teeth.
HP:0011065	Conical incisor	biolink:PhenotypicFeature	hp	UMLS:C1856136|UMLS:C4020759|UMLS:C4280341|UMLS:C4280342		Cone shaped front tooth|Shark tooth incisor|Peg shaped front tooth|Pointed front tooth|Conoid incisor|Peg shaped incisors|Peg-shaped incisors|Pointed incisor	http://purl.obolibrary.org/obo/HP_0011065	An abnormal conical morphology of the incisor tooth.
HP:0011067	Mesiodens	biolink:PhenotypicFeature	hp	MSH:D014096|SNOMEDCT_US:17802000|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457|UMLS:C0266030|UMLS:C4280340		Extra tooth|Extra tooth in the midline|Median supernumary tooth|Midline supernumary tooth|Mesiodentes	http://purl.obolibrary.org/obo/HP_0011067	The presence of a supernumerary tooth in the midline between the maxillary central incisors.
HP:0011068	Odontoma	biolink:PhenotypicFeature	hp	MSH:D009810|SNOMEDCT_US:79074005|UMLS:C0028882		Odontomas	http://purl.obolibrary.org/obo/HP_0011068	The presence of an odontoma.
HP:0011069	Increased number of teeth	biolink:PhenotypicFeature	hp	MSH:D014096|SNOMEDCT_US:266414008|SNOMEDCT_US:367534004|SNOMEDCT_US:8666004|UMLS:C0040457	hposlim_core	Extra teeth|Increased number of teeth|Increased tooth count|Supplemental teeth|More teeth than normal|Hyperdontia|Supernumerary teeth|Supernumerary tooth|Supplemental dentition|Supernumary dentition|Supernumary teeth	http://purl.obolibrary.org/obo/HP_0011069	The presence of a supernumerary, i.e., extra, tooth or teeth.
HP:0011070	Abnormality of molar morphology	biolink:PhenotypicFeature	hp	UMLS:C4023553		Abnormal shape of molar tooth	http://purl.obolibrary.org/obo/HP_0011070	An abnormality of morphology of molar tooth.
HP:0011071	Abnormality of permanent molar morphology	biolink:PhenotypicFeature	hp	UMLS:C4023552		Abnormality of shape of adult molar|Abnormality of shape of permanent molar	http://purl.obolibrary.org/obo/HP_0011071	An abnormality of morphology of permanent molar.
HP:0011072	Rootless teeth	biolink:PhenotypicFeature	hp	MSH:C538215|SNOMEDCT_US:109493006|UMLS:C0399379|UMLS:C4082200		Absence of tooth root|Missing tooth root|Rootless teeth|Teeth without roots|Agenesis of tooth root|Aplasia of tooth root|Tooth with dentin dysplasia type i	http://purl.obolibrary.org/obo/HP_0011072	
HP:0011073	Abnormality of dental color	biolink:PhenotypicFeature	hp	UMLS:C4023551		Abnormality of dental color|Abnormality of tooth color|Abnormality of tooth shade|Abnormality of dental colour|Abnormality of dental shade	http://purl.obolibrary.org/obo/HP_0011073	A developmental defect of tooth color.
HP:0011074	Localized hypoplasia of dental enamel	biolink:PhenotypicFeature	hp	UMLS:C4023550|UMLS:C4280339		Localised hypoplasia of dental enamel|Localized hypoplasia of tooth enamel|Localized dysplasia of tooth enamel	http://purl.obolibrary.org/obo/HP_0011074	A localized form of developmental hypoplasia of the dental enamel.
HP:0011075	Green teeth	biolink:PhenotypicFeature	hp	UMLS:C4023549		Green colored teeth|Green teeth|Green tooth shade	http://purl.obolibrary.org/obo/HP_0011075	A green staining of teeth.
HP:0011076	Abnormality of premolar	biolink:PhenotypicFeature	hp	UMLS:C4023548		Abnormality of premolar|Abnormality of bicuspid	http://purl.obolibrary.org/obo/HP_0011076	An abnormality of premolar tooth.
HP:0011077	Abnormality of molar	biolink:PhenotypicFeature	hp	UMLS:C4023547		Abnormality of molar	http://purl.obolibrary.org/obo/HP_0011077	An abnormality of molar tooth.
HP:0011078	Abnormality of canine	biolink:PhenotypicFeature	hp	UMLS:C4023546		Abnormality of canine|Abnormality of eye tooth	http://purl.obolibrary.org/obo/HP_0011078	An abnormality of canine tooth.
HP:0011079	Impacted tooth	biolink:PhenotypicFeature	hp	MSH:D014095|SNOMEDCT_US:129263008|SNOMEDCT_US:235104008|UMLS:C0040456|UMLS:C4280338	hposlim_core	Buried tooth|Impacted tooth|Retained tooth	http://purl.obolibrary.org/obo/HP_0011079	A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).
HP:0011080	Abnormality of premolar morphology	biolink:PhenotypicFeature	hp	UMLS:C4023545		Abnormality of shape of premolar|Abnormality of bicuspid morphology|Abnormality of shape of bicuspid	http://purl.obolibrary.org/obo/HP_0011080	An abnormality of morphology of premolar tooth.
HP:0011081	Incisor macrodontia	biolink:PhenotypicFeature	hp	UMLS:C4023544|UMLS:C4280337		Increased size of incisor|Large incisor|Increased width of incisor|Hyperplasia of incisor|Hypertrophy of incisor	http://purl.obolibrary.org/obo/HP_0011081	Increased size of the incisor tooth.
HP:0011082	Conical primary incisor	biolink:PhenotypicFeature	hp	UMLS:C4023543		Cone shaped front baby tooth|Peg shaped front baby tooth|Peg shaped primary incisor|Pointed front baby tooth|Pointed primary incisor|Conical deciduous incisor|Conoid primary incisor|Primary front shark tooth	http://purl.obolibrary.org/obo/HP_0011082	An abnormal conical morphology of the primary incisor.
HP:0011083	Conical maxillary incisor	biolink:PhenotypicFeature	hp	UMLS:C4023542		Cone shaped upper front tooth|Upper front shark tooth|Peg shaped upper front tooth|Pointed upper front tooth|Cone shaped maxillary incisor|Conoid maxillary incisor|Pointed maxillary incisor	http://purl.obolibrary.org/obo/HP_0011083	An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.
HP:0011084	Hypocalcification of dental enamel	biolink:PhenotypicFeature	hp	UMLS:C4023541		Decreased enamel calcification|Poorly calcified tooth enamel	http://purl.obolibrary.org/obo/HP_0011084	A form of hypomineralization of enamel characterized by reduced calcification.
HP:0011085	Hypomature dental enamel	biolink:PhenotypicFeature	hp	UMLS:C4023540|UMLS:C4280266|UMLS:C4280336		Soft teeth|Soft tooth enamel|Immature tooth enamel	http://purl.obolibrary.org/obo/HP_0011085	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	biolink:PhenotypicFeature	hp	UMLS:C4023539		Dentinogenesis imperfecta of adult and baby teeth|Dentinogenesis imperfecta of both sets of teeth	http://purl.obolibrary.org/obo/HP_0011086	Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.
HP:0011087	Talon cusp	biolink:PhenotypicFeature	hp	SNOMEDCT_US:234955005|SNOMEDCT_US:63691004|UMLS:C0266034|UMLS:C0399357|UMLS:C4280335	hposlim_core	Extra cusp on inside of front tooth|Dens evaginatus|Talon cusps	http://purl.obolibrary.org/obo/HP_0011087	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	biolink:PhenotypicFeature	hp	MSH:D003719|SNOMEDCT_US:55197001|UMLS:C0011320		Tooth within a tooth|Dens invaginatus	http://purl.obolibrary.org/obo/HP_0011088	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	biolink:PhenotypicFeature	hp	MSH:D005671|SNOMEDCT_US:1744008|UMLS:C0016873		Conjoined teeth|Double tooth	http://purl.obolibrary.org/obo/HP_0011089	A dental anomaly characterized by the presence of a two fused teeth.
HP:0011090	Fused teeth	biolink:PhenotypicFeature	hp	MSH:D005671|SNOMEDCT_US:1744008|UMLS:C0016873	hposlim_core	Fused teeth|Fusion of teeth|Joined teeth	http://purl.obolibrary.org/obo/HP_0011090	The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.
HP:0011091	Gemination	biolink:PhenotypicFeature	hp	SNOMEDCT_US:40273006|UMLS:C0266033		Splitting of crown of tooth|Gemination of tooth	http://purl.obolibrary.org/obo/HP_0011091	The development of two teeth from a single tooth bud, leading to a larger fused tooth.
HP:0011092	Mulberry molar	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109436001|UMLS:C0266024		Syphilitic permanent first molar	http://purl.obolibrary.org/obo/HP_0011092	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	biolink:PhenotypicFeature	hp	UMLS:C1404304|UMLS:C4280334		Molar shape of premolar|Enlarged premolar|Increased size of premolar|Molar shape of bicuspid|Molarization of bicuspid	http://purl.obolibrary.org/obo/HP_0011093	Increased size and molar morphology of premolar tooth.
HP:0011094	Overbite	biolink:PhenotypicFeature	hp	MSH:D057887|SNOMEDCT_US:10816007|SNOMEDCT_US:251293001|SNOMEDCT_US:60476005|SNOMEDCT_US:63783001|UMLS:C0266063|UMLS:C0266067|UMLS:C1305740		Overbite|Deep bite|Deep overbite|Scissors bite|Increased overlap of upper and lower incisors	http://purl.obolibrary.org/obo/HP_0011094	Maxillary teeth cover the mandibular teeth when biting to an increased degree.
HP:0011095	Overjet	biolink:PhenotypicFeature	hp	MSH:D057887|SNOMEDCT_US:251292006|SNOMEDCT_US:70305005|UMLS:C0596028		Protrusion of upper teeth in front of lower teeth|Buck teeth|Upper teeth sticking out forward|Abnormality of horizontal incisor relationship|Protrusion of the maxillary incisors	http://purl.obolibrary.org/obo/HP_0011095	An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.
HP:0011096	Peripheral demyelination	biolink:PhenotypicFeature	hp	UMLS:C0878575		Demyelination	http://purl.obolibrary.org/obo/HP_0011096	A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
HP:0011097	Epileptic spasm	biolink:PhenotypicFeature	hp	MSH:D013036|SNOMEDCT_US:28055006|UMLS:C0037769|UMLS:C1527366		Epileptic spasms|Salaam convulsions|Salaam seizures|Salaam convulsion|Salaam seizure|West syndrome	http://purl.obolibrary.org/obo/HP_0011097	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	biolink:PhenotypicFeature	hp	MSH:D001072|SNOMEDCT_US:361276003|SNOMEDCT_US:361277007|SNOMEDCT_US:74227009|UMLS:C0264611|UMLS:C0349391		Apraxia of speech|Verbal dyspraxia	http://purl.obolibrary.org/obo/HP_0011098	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	biolink:PhenotypicFeature	hp	MSH:D006429|SNOMEDCT_US:79633009|UMLS:C0154694		Spastic hemiplegia	http://purl.obolibrary.org/obo/HP_0011099	Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.
HP:0011100	Intestinal atresia	biolink:PhenotypicFeature	hp	MSH:D007409|UMLS:C0021828			http://purl.obolibrary.org/obo/HP_0011100	An abnormal closure, or atresia of the tubular structure of the intestine.
HP:0011102	Ileal atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25896009|UMLS:C0266176			http://purl.obolibrary.org/obo/HP_0011102	An abnormal closure, or atresia of the tubular structure of the ileum.
HP:0011103	Abnormal left ventricular outflow tract morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253545000|UMLS:C0344916		Abnormality of the left ventricular outflow tract	http://purl.obolibrary.org/obo/HP_0011103	An abnormality of the outflow tract of the left ventricle.
HP:0011104	Abnormality of blood volume homeostasis	biolink:PhenotypicFeature	hp	UMLS:C4023537			http://purl.obolibrary.org/obo/HP_0011104	An abnormality in the amount of volume occupied by intravascular blood.
HP:0011105	Hypervolemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21639008|UMLS:C0546817		Fluid overload in blood	http://purl.obolibrary.org/obo/HP_0011105	An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.
HP:0011106	Hypovolemia	biolink:PhenotypicFeature	hp	MSH:D020896|SNOMEDCT_US:28560003|UMLS:C0546884		Depleted blood volume	http://purl.obolibrary.org/obo/HP_0011106	An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.
HP:0011107	Recurrent aphthous stomatitis	biolink:PhenotypicFeature	hp	MSH:D013281|SNOMEDCT_US:110426005|SNOMEDCT_US:398870000|SNOMEDCT_US:426965005|SNOMEDCT_US:427617000|UMLS:C0038363|UMLS:C2937365		Recurrent canker sores|Recurrent oral aphthae|Aphthous stomatitis|Buccal aphthous ulcers|Recurrent aphthous ulcers	http://purl.obolibrary.org/obo/HP_0011107	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195788001|UMLS:C0581354|UMLS:C4280333		Recurrent sinus disease|Sinusitis, recurrent	http://purl.obolibrary.org/obo/HP_0011108	A recurrent form of sinusitis.
HP:0011109	Chronic sinusitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:40055000|UMLS:C0149516|UMLS:C0748720		Chronic sinus disease|Sinusitis, chronic	http://purl.obolibrary.org/obo/HP_0011109	A chronic form of sinusitis.
HP:0011110	Recurrent tonsillitis	biolink:PhenotypicFeature	hp	MSH:D014069|SNOMEDCT_US:90176007|UMLS:C0040425		IRecurrent inflammation of tonsils	http://purl.obolibrary.org/obo/HP_0011110	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	biolink:PhenotypicFeature	hp	UMLS:C4023536			http://purl.obolibrary.org/obo/HP_0011111	An abnormality of the concentration or function of circulating immune proteins.
HP:0011112	Abnormality of serum cytokine level	biolink:PhenotypicFeature	hp	MP:0010210|UMLS:C4023535			http://purl.obolibrary.org/obo/HP_0011112	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	biolink:PhenotypicFeature	hp	MP:0003009|UMLS:C4023534			http://purl.obolibrary.org/obo/HP_0011113	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	biolink:PhenotypicFeature	hp	UMLS:C4023533			http://purl.obolibrary.org/obo/HP_0011114	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	biolink:PhenotypicFeature	hp	UMLS:C4023532			http://purl.obolibrary.org/obo/HP_0011115	An abnormality in the production or cellular release of a chemokine (a class of cytokines).
HP:0011116	Abnormality of interferon secretion	biolink:PhenotypicFeature	hp	UMLS:C4023531			http://purl.obolibrary.org/obo/HP_0011116	An abnormality in the production or cellular release of interferons (a class of cytokines).
HP:0011117	Abnormality of interleukin secretion	biolink:PhenotypicFeature	hp	UMLS:C4023530		Abnormality of IL secretion	http://purl.obolibrary.org/obo/HP_0011117	An abnormality in the production or cellular release of interleukins (a class of cytokines).
HP:0011118	Abnormality of tumor necrosis factor secretion	biolink:PhenotypicFeature	hp	MP:0008556|UMLS:C4023529		Abnormality of tumour necrosis factor secretion|Abnormality of cachectin secretion|Abnormality of cachexin secretion	http://purl.obolibrary.org/obo/HP_0011118	An abnormality in the production or cellular release of tumor necrosis factor.
HP:0011119	Abnormality of the nasal dorsum	biolink:PhenotypicFeature	hp	UMLS:C4021202|UMLS:C4280332		Abnormality of the nasal ridge|Crooked dorsum of nose|Crooked nasal dorsum|Crooked nasal ridge|Deformity of the nasal ridge|Malformation of the dorsum of nose|Malformation of the nasal dorsum|Malformation of the nasal ridge|Abnormality of the dorsum of nose|Anomaly of the nasal ridge|Abnormal morphology of dorsum of nose|Deformity of the dorsum of the nose|Deformity of the nasal dorsum	http://purl.obolibrary.org/obo/HP_0011119	An abnormality of the nasal dorsum, also known as the nasal ridge.
HP:0011120	Concave nasal ridge	biolink:PhenotypicFeature	hp	SNOMEDCT_US:710234009|UMLS:C0264169	hposlim_core	Boxer's nasal deformity|Boxer's nose deformity|Saddle nose|Ski jump nose|Saddle nose deformity|Concave dorsum of nose|Concave nasal dorsum|Saddle shaped nasal dorsum	http://purl.obolibrary.org/obo/HP_0011120	Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
HP:0011121	Abnormality of skin morphology	biolink:PhenotypicFeature	hp	Fyler:4133|UMLS:C4023528		Abnormal skin structure|Abnormal skin morphology	http://purl.obolibrary.org/obo/HP_0011121	Any morphological abnormality of the skin.
HP:0011122	Abnormality of skin physiology	biolink:PhenotypicFeature	hp	UMLS:C4023527		Abnormality of skin physiology	http://purl.obolibrary.org/obo/HP_0011122	Any abnormality of the physiological function of the skin.
HP:0011123	Inflammatory abnormality of the skin	biolink:PhenotypicFeature	hp	MP:0004947|MSH:D003872|SNOMEDCT_US:703938007|UMLS:C0011603|UMLS:C3875321		Inflammatory abnormality of the skin|Skin inflammation|Abnormal tendency to infections of the skin|Dermatitis|Inflammatory skin disease	http://purl.obolibrary.org/obo/HP_0011123	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	Abnormality of epidermal morphology	biolink:PhenotypicFeature	hp	UMLS:C4023526			http://purl.obolibrary.org/obo/HP_0011124	An abnormality of the morphology of the epidermis.
HP:0011125	Abnormality of dermal melanosomes	biolink:PhenotypicFeature	hp	UMLS:C4023525			http://purl.obolibrary.org/obo/HP_0011125	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	biolink:PhenotypicFeature	hp	UMLS:C1384594		Floating kidney|Renal ptosis	http://purl.obolibrary.org/obo/HP_0011126	A significant descent of the kidney as the patient moves from the supine to the erect position.
HP:0011127	Perioral eczema	biolink:PhenotypicFeature	hp	UMLS:C1396126		Eczema around the mouth	http://purl.obolibrary.org/obo/HP_0011127	A type of eczema that occurs in the lips and perioral area.
HP:0011128	Acute esophageal necrosis	biolink:PhenotypicFeature	hp	UMLS:C4023524			http://purl.obolibrary.org/obo/HP_0011128	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	biolink:PhenotypicFeature	hp	UMLS:C4023523		Bilateral foetal pyelectasis|Bilateral fetal pyelectasia	http://purl.obolibrary.org/obo/HP_0011129	A bilateral form of fetal pyelectasis.
HP:0011130	Abnormal renal calyx morphology	biolink:PhenotypicFeature	hp	UMLS:C4023522		Abnormality of renal calyx morphology	http://purl.obolibrary.org/obo/HP_0011130	Any abnormality of the morphology of the major calices or minor calices of the kidney.
HP:0011131	Perianal rash	biolink:PhenotypicFeature	hp	UMLS:C0240705			http://purl.obolibrary.org/obo/HP_0011131	The presence of a rash (change of color and texture) of the perianal skin.
HP:0011132	Chronic furunculosis	biolink:PhenotypicFeature	hp	UMLS:C4023521			http://purl.obolibrary.org/obo/HP_0011132	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	biolink:PhenotypicFeature	hp	UMLS:C4021850		Increased sensitivity to ionising radiation	http://purl.obolibrary.org/obo/HP_0011133	An abnormally increased sensitivity to the effects of ionizing radiation.
HP:0011134	Low-grade fever	biolink:PhenotypicFeature	hp	SNOMEDCT_US:304213008|UMLS:C0239574		Low-grade fever|Mild fever	http://purl.obolibrary.org/obo/HP_0011134	Mild fever that does not exceed 38.5 degree centrigrade.
HP:0011135	Aplasia/Hypoplasia of the sweat glands	biolink:PhenotypicFeature	hp	UMLS:C4023520		Absent/small sweat glands|Absent/underdeveloped sweat glands	http://purl.obolibrary.org/obo/HP_0011135	Absence or developmental hypoplasia of the sweat glands.
HP:0011136	Aplasia of the sweat glands	biolink:PhenotypicFeature	hp	UMLS:C2677485		Absent sweat glands|Lack of sweat glands	http://purl.obolibrary.org/obo/HP_0011136	Absence of the sweat glands.
HP:0011137	Non-pruritic urticaria	biolink:PhenotypicFeature	hp	UMLS:C4023519		Non-itchy hives	http://purl.obolibrary.org/obo/HP_0011137	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	biolink:PhenotypicFeature	hp	UMLS:C4023518		Abnormal skin appendage	http://purl.obolibrary.org/obo/HP_0011138	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	biolink:PhenotypicFeature	hp	UMLS:C4021201		Gastric duplication cyst	http://purl.obolibrary.org/obo/HP_0011139	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:33257003|UMLS:C0266019		GI duplication	http://purl.obolibrary.org/obo/HP_0011140	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39450006|UMLS:C0036646		Clouding of the lens of the eye with age	http://purl.obolibrary.org/obo/HP_0011141	A type of cataract (opacification of the lens) that forms during the course of aging.
HP:0011142	Age-related nuclear cataract	biolink:PhenotypicFeature	hp	MSH:C563333|UMLS:C1832423			http://purl.obolibrary.org/obo/HP_0011142	A type of age-related cataract that primarily affects the nucleus of the lens.
HP:0011143	Age-related cortical cataract	biolink:PhenotypicFeature	hp	UMLS:C2880562			http://purl.obolibrary.org/obo/HP_0011143	A type of age-related cataract that primarily affects the cortex of the lens.
HP:0011144	Age-related posterior subcapsular cataract	biolink:PhenotypicFeature	hp	UMLS:C4023517			http://purl.obolibrary.org/obo/HP_0011144	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	biolink:PhenotypicFeature	hp	UMLS:C4023516			http://purl.obolibrary.org/obo/HP_0011145	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	biolink:PhenotypicFeature	hp			Behavioral arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioral arrest seizure with impairment of awareness|Unknown onset behavioural arrest seizure with impairment of awareness	http://purl.obolibrary.org/obo/HP_0011146	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	biolink:PhenotypicFeature	hp	MSH:D004832|SNOMEDCT_US:230413002|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|SNOMEDCT_US:79631006|UMLS:C0014553		Typical absence seizures|Typical absence	http://purl.obolibrary.org/obo/HP_0011147	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:0011148	obsolete Absence seizures with special features	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011148	
HP:0011149	Absence seizure with eyelid myoclonia	biolink:PhenotypicFeature	hp	UMLS:C4023513		Absence seizures with eyelid myoclonia	http://purl.obolibrary.org/obo/HP_0011149	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	biolink:PhenotypicFeature	hp	UMLS:C4023512		Myoclonic absences|Myoclonic absence	http://purl.obolibrary.org/obo/HP_0011150	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	biolink:PhenotypicFeature	hp	UMLS:C4023511		Obtundation status	http://purl.obolibrary.org/obo/HP_0011151	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	biolink:PhenotypicFeature	hp	UMLS:C4023510		Early onset petit mal seizures	http://purl.obolibrary.org/obo/HP_0011152	Typical absence seizures starting before the age of 4 years.
HP:0011153	Focal motor seizure	biolink:PhenotypicFeature	hp	MSH:D020938|SNOMEDCT_US:128612007|SNOMEDCT_US:82401000|UMLS:C0016399		Focal motor seizures|Partial motor seizures|Localised motor seizure|Localized motor seizure|Localized motor seizures|Partial motor seizure|Segmental motor seizure	http://purl.obolibrary.org/obo/HP_0011153	A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.
HP:0011154	Focal autonomic seizure	biolink:PhenotypicFeature	hp	UMLS:C4023509		Autonomic auras|Focal autonomic seizures|Autonomic aura|Vegetative auras	http://purl.obolibrary.org/obo/HP_0011154	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:0011155	obsolete Focal autonomic seizures with altered responsiveness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011155	
HP:0011156	obsolete Focal autonomic seizures without altered responsiveness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011156	
HP:0011157	Focal sensory seizure	biolink:PhenotypicFeature	hp	MSH:D004827|SNOMEDCT_US:18618006|UMLS:C0236018		Focal sensory seizures|Partial sensory seizure|Sensory aura	http://purl.obolibrary.org/obo/HP_0011157	A focal sensory seizure is a type seizure beginning with a subjective sensation.
HP:0011158	Focal sensory seizure with auditory features	biolink:PhenotypicFeature	hp	UMLS:C1838063		Auditory aura|Focal auditory seizure|Focal sensory auditory seizure|Partial auditory seizure	http://purl.obolibrary.org/obo/HP_0011158	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	biolink:PhenotypicFeature	hp	UMLS:C4023506		Epigastric auras|Abdominal aura|Epigastric aura|Localised seizure with epigastric sensation|Localized seizure with epigastric sensation|Partial seizure with epigastric sensation|Visceral aura	http://purl.obolibrary.org/obo/HP_0011159	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	biolink:PhenotypicFeature	hp	MSH:D006212|SNOMEDCT_US:29139005|UMLS:C0233766		Taste hallucinations|Gustatory auras|Focal gustatory seizure|Focal sensory gustatory seizure|Gustatory aura|Partial gustatory seizure	http://purl.obolibrary.org/obo/HP_0011160	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	biolink:PhenotypicFeature	hp	UMLS:C4023504		Olfactory auras|Focal olfactory seizure|Olfactory aura|Partial olfactory seizure	http://purl.obolibrary.org/obo/HP_0011161	Seizures characterized by olfactory phenomena as its first clinical manifestation.
HP:0011162	obsolete Psychic auras	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011162	
HP:0011163	Focal sensory seizure with somatosensory features	biolink:PhenotypicFeature	hp	UMLS:C4023502		Somatosensory auras|Focal somatosensory seizure|Partial somatosensory seizure|Somatosensory aura	http://purl.obolibrary.org/obo/HP_0011163	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:0011164	obsolete Vegetative auras	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011164	
HP:0011165	Focal sensory seizure with visual features	biolink:PhenotypicFeature	hp	UMLS:C1850765		Visual auras|Focal visual seizure|Partial visual seizure|Visual aura|Simple partial occipital seizures	http://purl.obolibrary.org/obo/HP_0011165	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	biolink:PhenotypicFeature	hp	UMLS:C4023501		Focal myoclonic seizures|Local myoclonic seizures|Segmental myoclonic seizures|Localised myoclonic seizure|Localized myoclonic seizure|Partial myoclonic seizure|Partial myoclonic seizures|Segmental myoclonic seizure	http://purl.obolibrary.org/obo/HP_0011166	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	biolink:PhenotypicFeature	hp	MSH:D020938|UMLS:C0752324		Focal tonic seizures|Local tonic seizures|Partial tonic seizures|Localised tonic seizure|Localized tonic seizure|Partial tonic seizure|Segmental tonic seizure	http://purl.obolibrary.org/obo/HP_0011167	A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.
HP:0011168	Eyelid myoclonias	biolink:PhenotypicFeature	hp	UMLS:C4023500			http://purl.obolibrary.org/obo/HP_0011168	Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.
HP:0011169	Generalized clonic seizure	biolink:PhenotypicFeature	hp	UMLS:C4023499		Generalized clonic seizures|Generalised clonic seizures|Generalised clonic seizure|Generalised onset clonic seizure|Generalised-onset clonic seizure|Generalized onset clonic seizure|Generalized-onset clonic seizure	http://purl.obolibrary.org/obo/HP_0011169	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	biolink:PhenotypicFeature	hp	MSH:D004831|SNOMEDCT_US:230421008|UMLS:C0393702		Myoclonic atonic seizures|Generalised myoclonic-atonic seizure|Myoclonic-astatic seizure	http://purl.obolibrary.org/obo/HP_0011170	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	biolink:PhenotypicFeature	hp	MSH:D003294|SNOMEDCT_US:432354000|UMLS:C0149886		Simple febrile seizures|Simple febrile convulsion|Simple fever fit	http://purl.obolibrary.org/obo/HP_0011171	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	biolink:PhenotypicFeature	hp	MSH:D003294|SNOMEDCT_US:433083002|UMLS:C0751057		Complex febrile seizures|Complex febrile convulsion|Complex fever fit	http://purl.obolibrary.org/obo/HP_0011172	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	biolink:PhenotypicFeature	hp	UMLS:C4023498		Hypokinetic seizures|Focal behaviour arrest seizure|Focal hypokinetic seizure|Hypokinetic seizure|Localised seizure with behavioural arrest|Localized seizure with behavioral arrest|Partial hypokinetic seizure|Partial seizure with behavior arrest	http://purl.obolibrary.org/obo/HP_0011173	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	biolink:PhenotypicFeature	hp	UMLS:C4023497		Hyperkinetic seizures|Localised hyperkinetic seizure|Localized hyperkinetic seizure|Partial hyperkinetic seizure|Segmental hyperkinetic seizure	http://purl.obolibrary.org/obo/HP_0011174	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	biolink:PhenotypicFeature	hp	MSH:D020938|SNOMEDCT_US:246530009|UMLS:C0422846		Versive seizures|Versive seizure	http://purl.obolibrary.org/obo/HP_0011175	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	biolink:PhenotypicFeature	hp	UMLS:C4023496			http://purl.obolibrary.org/obo/HP_0011176	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	biolink:PhenotypicFeature	hp	UMLS:C4023495			http://purl.obolibrary.org/obo/HP_0011177	EEG background activity at 4-5/second.
HP:0011178	Alpha-EEG	biolink:PhenotypicFeature	hp	UMLS:C4023494			http://purl.obolibrary.org/obo/HP_0011178	EEG dominated by diffuse alpha-waves (8-13Hz).
HP:0011179	Beta-EEG	biolink:PhenotypicFeature	hp	UMLS:C4023493		Beta wave electroencephalography	http://purl.obolibrary.org/obo/HP_0011179	EEG dominated by diffuse beta-waves (>13 Hz).
HP:0011180	Partial beta-EEG	biolink:PhenotypicFeature	hp	UMLS:C4023492			http://purl.obolibrary.org/obo/HP_0011180	EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).
HP:0011181	Low voltage EEG	biolink:PhenotypicFeature	hp	UMLS:C1851759			http://purl.obolibrary.org/obo/HP_0011181	EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).
HP:0011182	Interictal epileptiform activity	biolink:PhenotypicFeature	hp	UMLS:C4023491		Epileptiform EEG discharges	http://purl.obolibrary.org/obo/HP_0011182	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	biolink:PhenotypicFeature	hp	UMLS:C4023490			http://purl.obolibrary.org/obo/HP_0011183	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	biolink:PhenotypicFeature	hp	UMLS:C4023489		EEG with hyperventilation-induced generalised epileptiform discharges	http://purl.obolibrary.org/obo/HP_0011184	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	biolink:PhenotypicFeature	hp	UMLS:C4021199		Focal EEG Abnormality	http://purl.obolibrary.org/obo/HP_0011185	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	biolink:PhenotypicFeature	hp	UMLS:C4023488			http://purl.obolibrary.org/obo/HP_0011186	Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.
HP:0011187	Focal EEG discharges with propagation to ipsilateral hemisphere	biolink:PhenotypicFeature	hp	UMLS:C4023487			http://purl.obolibrary.org/obo/HP_0011187	Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.
HP:0011188	Focal EEG discharges with secondary generalization	biolink:PhenotypicFeature	hp	UMLS:C4023486		Focal EEG discharges with secondary generalisation	http://purl.obolibrary.org/obo/HP_0011188	Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.
HP:0011189	Bilateral multifocal epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4023485			http://purl.obolibrary.org/obo/HP_0011189	Epileptiform discharges being identified at multiple locations in both hemispheres.
HP:0011190	Uni- and bilateral multifocal epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4023484			http://purl.obolibrary.org/obo/HP_0011190	Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.
HP:0011191	Unilateral multifocal epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4023483			http://purl.obolibrary.org/obo/HP_0011191	Epileptiform discharges being identified at multiple locations in one hemisphere.
HP:0011192	Polymorphic focal epileptiform discharges	biolink:PhenotypicFeature	hp	UMLS:C4023482			http://purl.obolibrary.org/obo/HP_0011192	Focal epileptiform discharges of different shapes and frequencies.
HP:0011193	EEG with focal spikes	biolink:PhenotypicFeature	hp	UMLS:C4023481			http://purl.obolibrary.org/obo/HP_0011193	EEG with focal sharp transient waves of a duration less than 80 msec.
HP:0011194	EEG with series of focal spikes	biolink:PhenotypicFeature	hp	UMLS:C4023480			http://purl.obolibrary.org/obo/HP_0011194	Focal spikes occurring for several seconds.
HP:0011195	EEG with focal sharp slow waves	biolink:PhenotypicFeature	hp	UMLS:C4023479			http://purl.obolibrary.org/obo/HP_0011195	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	biolink:PhenotypicFeature	hp	UMLS:C4023478			http://purl.obolibrary.org/obo/HP_0011196	EEG with focal sharp transient waves of a duration between 80 and 200 msec.
HP:0011197	EEG with focal spike waves	biolink:PhenotypicFeature	hp	UMLS:C4023477			http://purl.obolibrary.org/obo/HP_0011197	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	biolink:PhenotypicFeature	hp	UMLS:C4023476		EEG with generalised epileptiform discharges	http://purl.obolibrary.org/obo/HP_0011198	EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
HP:0011199	EEG with generalized sharp slow waves	biolink:PhenotypicFeature	hp	UMLS:C4023475		EEG with generalised sharp slow waves	http://purl.obolibrary.org/obo/HP_0011199	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	biolink:PhenotypicFeature	hp	UMLS:C4023474		EEG with generalised polymorphic epileptiform discharges	http://purl.obolibrary.org/obo/HP_0011200	Generalized epileptiform discharges of different shapes and frequencies.
HP:0011201	EEG with changes in voltage	biolink:PhenotypicFeature	hp	UMLS:C4023473			http://purl.obolibrary.org/obo/HP_0011201	EEG with abnormal amplitude.
HP:0011202	EEG with diffuse acceleration	biolink:PhenotypicFeature	hp	UMLS:C4023472			http://purl.obolibrary.org/obo/HP_0011202	EEG frequency is abnormally increased.
HP:0011203	EEG with abnormally slow frequencies	biolink:PhenotypicFeature	hp	UMLS:C4023471			http://purl.obolibrary.org/obo/HP_0011203	EEG with abnormally slow frequencies.
HP:0011204	EEG with continuous slow activity	biolink:PhenotypicFeature	hp	UMLS:C4023470			http://purl.obolibrary.org/obo/HP_0011204	EEG showing diffuse slowing without interruption.
HP:0011205	EEG with intermittent slow activity	biolink:PhenotypicFeature	hp	UMLS:C4023469			http://purl.obolibrary.org/obo/HP_0011205	Non-continuous diffuse slowing of electroencephalographic patterns.
HP:0011206	EEG with generalized slow activity grade 1	biolink:PhenotypicFeature	hp	UMLS:C4023468		EEG with generalised slow activity grade 1	http://purl.obolibrary.org/obo/HP_0011206	Slowing at frequencies between 7.5 and 8.5 Hz.
HP:0011207	EEG with generalized slow activity grade 2	biolink:PhenotypicFeature	hp	UMLS:C4023467		EEG with generalised slow activity grade 2	http://purl.obolibrary.org/obo/HP_0011207	Generalized slowing of EEG activity at frequencies between 4-7 Hz.
HP:0011208	EEG with generalized slow activity grade 3	biolink:PhenotypicFeature	hp	UMLS:C4023466		EEG with generalised slow activity grade 3	http://purl.obolibrary.org/obo/HP_0011208	Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.
HP:0011209	EEG with generalized slow activity grade 4	biolink:PhenotypicFeature	hp	UMLS:C4021198		EEG with generalised slow activity grade 4|Flat line EEG	http://purl.obolibrary.org/obo/HP_0011209	EEG without electrical activity.
HP:0011210	EEG with occipital slowing	biolink:PhenotypicFeature	hp	UMLS:C4023465			http://purl.obolibrary.org/obo/HP_0011210	Slowing in occipital areas of the scalp EEG.
HP:0011211	EEG with photoparoxysmal response grade I	biolink:PhenotypicFeature	hp	UMLS:C4023464			http://purl.obolibrary.org/obo/HP_0011211	Occurrence of epileptiform discharges in occipital regions during photic stimulation.
HP:0011212	EEG with photoparoxysmal response grade II	biolink:PhenotypicFeature	hp	UMLS:C4023463			http://purl.obolibrary.org/obo/HP_0011212	Occurence of epileptiform discharges in occipital and central regions during photic stimulation.
HP:0011213	EEG with photoparoxysmal response grade III	biolink:PhenotypicFeature	hp	UMLS:C4023462			http://purl.obolibrary.org/obo/HP_0011213	Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.
HP:0011214	EEG with photoparoxysmal response grade IV	biolink:PhenotypicFeature	hp	UMLS:C4023461			http://purl.obolibrary.org/obo/HP_0011214	Occurrence of generalized epileptiform discharges during photic stimulation.
HP:0011215	Hemihypsarrhythmia	biolink:PhenotypicFeature	hp	UMLS:C4023460			http://purl.obolibrary.org/obo/HP_0011215	Hypsarrhythmia occurring in one hemisphere.
HP:0011217	Abnormal shape of the occiput	biolink:PhenotypicFeature	hp	UMLS:C4023459		Abnormal shape of posterior head|Abnormal shape of the back of the head|Abnormal shape of posterior skull|Abnormal shape of the back of the skull|Abnormal shape of posterior cranium	http://purl.obolibrary.org/obo/HP_0011217	An abnormal shape of occiput.
HP:0011218	Abnormal shape of the frontal region	biolink:PhenotypicFeature	hp	UMLS:C4023458		Abnormal shape of the forehead|Abnormal morphology of the frontal region|Dysmorphic forehead|Dysmorphic frontal region	http://purl.obolibrary.org/obo/HP_0011218	An abnormal shape of the frontal part of the head.
HP:0011219	Short face	biolink:PhenotypicFeature	hp	UMLS:C4023457	hposlim_core	Decreased height of face|Decreased length of face|Short face|Vertical shortening of face|Decreased vertical dimension of face|Short facies|Vertical Facial Deficiency|Vertical deficiency of face|Vertical facial insufficiency|Vertical hypoplasia of face|Vertical insufficiency of face	http://purl.obolibrary.org/obo/HP_0011219	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	biolink:PhenotypicFeature	hp	UMLS:C1837260|UMLS:C1867446	hposlim_core	Prominent forehead|Pronounced forehead|Protruding forehead|Bulging forehead|Prominence of frontal region	http://purl.obolibrary.org/obo/HP_0011220	Forward prominence of the entire forehead, due to protrusion of the frontal bone.
HP:0011221	Vertical forehead creases	biolink:PhenotypicFeature	hp	UMLS:C4023456	hposlim_core	Frontal creases of face|Vertical forehead creases|Vertical forehead wrinkles|Vertical forehead rhytids	http://purl.obolibrary.org/obo/HP_0011221	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	biolink:PhenotypicFeature	hp	UMLS:C4023455		Deficient area between the eyebrows|Flat area between the eyebrows|Concave glabella|Deficiency of glabella|Flat glabella|Hypoplasia of glabella	http://purl.obolibrary.org/obo/HP_0011222	Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.
HP:0011223	Metopic depression	biolink:PhenotypicFeature	hp	UMLS:C4023454	hposlim_core	Depression of frontal cranial suture|Depression of metopic cranial suture|Frontal suture depression	http://purl.obolibrary.org/obo/HP_0011223	Linear vertical groove in the midline of the forehead, extending from hairline to glabella.
HP:0011224	Ablepharon	biolink:PhenotypicFeature	hp	SNOMEDCT_US:13401001|SNOMEDCT_US:708541009|UMLS:C0266574|UMLS:C4020757	hposlim_core	Absent eyelids|Missing eyelids|Ablepharon of eyelid|Agenesis of eyelids|Aplasia of the eyelids	http://purl.obolibrary.org/obo/HP_0011224	Absent eyelids.
HP:0011225	Epiblepharon	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253212001|UMLS:C0344503	hposlim_core		http://purl.obolibrary.org/obo/HP_0011225	Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.
HP:0011226	Aplasia/Hypoplasia of the eyelid	biolink:PhenotypicFeature	hp	UMLS:C4023453		Failure of development of eyelid|Hypotrophic eyelid	http://purl.obolibrary.org/obo/HP_0011226	Absence or underdevelopment of the eyelid.
HP:0011227	Elevated C-reactive protein level	biolink:PhenotypicFeature	hp	UMLS:C0742906|UMLS:C4023452		Elevated CRP	http://purl.obolibrary.org/obo/HP_0011227	An abnormal elevation of the C-reactive protein level in serum.
HP:0011228	Horizontal eyebrow	biolink:PhenotypicFeature	hp	UMLS:C3277019	hposlim_core	Lack of eyebrow arch|Lack of eyebrow curvature|Flat eyebrow|Horizontal eyebrow|Straight eyebrow|Straight eyebrows	http://purl.obolibrary.org/obo/HP_0011228	An eyebrow that extends straight across the brow, without curve.
HP:0011229	Broad eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1856121	hposlim_core	Broad eyebrow|Broad eyebrows|Flared eyebrow|Increased vertical height of eyebrow|Increased vertical thickness of eyebrow|Flared eyebrows|Increased vertical width of eyebrow	http://purl.obolibrary.org/obo/HP_0011229	Regional increase in the width (height) of the eyebrow.
HP:0011230	Laterally extended eyebrow	biolink:PhenotypicFeature	hp	UMLS:C4023451		Laterally extended eyebrows|Increased lateral length of eyebrow|Laterally elongated eyebrow	http://purl.obolibrary.org/obo/HP_0011230	An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.
HP:0011231	Prominent eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1835802|UMLS:C4023450		Prominent eyelashes|Thick eyelashes	http://purl.obolibrary.org/obo/HP_0011231	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	biolink:PhenotypicFeature	hp	UMLS:C4023449	hposlim_core	Infraorbital fold|Dennie-Morgan fold	http://purl.obolibrary.org/obo/HP_0011232	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	biolink:PhenotypicFeature	hp	UMLS:C4021197		Conchal shelf	http://purl.obolibrary.org/obo/HP_0011233	Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.
HP:0011234	Absent antihelix	biolink:PhenotypicFeature	hp	UMLS:C4023448			http://purl.obolibrary.org/obo/HP_0011234	No discernible ridge between concha and triangular fossa and helix.
HP:0011235	Additional crus of antihelix	biolink:PhenotypicFeature	hp	UMLS:C4023447			http://purl.obolibrary.org/obo/HP_0011235	Supernumerary ridge or crus of the ear arising from the antihelix.
HP:0011236	Angulated antihelix	biolink:PhenotypicFeature	hp	UMLS:C4023446			http://purl.obolibrary.org/obo/HP_0011236	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	biolink:PhenotypicFeature	hp	UMLS:C4021196		Antihelix, inferior crus, broad	http://purl.obolibrary.org/obo/HP_0011237	Increased width of the inferred cross-section of the inferior crus.
HP:0011238	Prominent inferior crus of antihelix	biolink:PhenotypicFeature	hp	UMLS:C4021195		Antihelix, inferior crus, prominent|Hyperplastic inferior crus of antihelix|Hypertrophic inferior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011238	Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.
HP:0011239	Underdeveloped inferior crus of antihelix	biolink:PhenotypicFeature	hp	UMLS:C4021194		Antihelix, inferior crus, underdeveloped|Hypoplastic inferior crus of antihelix|Hypotrophic inferior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011239	Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.
HP:0011240	Prominent stem of antihelix	biolink:PhenotypicFeature	hp	UMLS:C4020910		Hyperplastic antihelix stem|Hypertrophic antihelix stem	http://purl.obolibrary.org/obo/HP_0011240	Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.
HP:0011241	Serpiginous stem of antihelix	biolink:PhenotypicFeature	hp	UMLS:C4021193		Antihelix, stem, serpiginous	http://purl.obolibrary.org/obo/HP_0011241	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	biolink:PhenotypicFeature	hp	UMLS:C4021192		Antihelix, stem, underdeveloped	http://purl.obolibrary.org/obo/HP_0011242	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	biolink:PhenotypicFeature	hp	UMLS:C4021191		Abnormality of anterior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011243	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	biolink:PhenotypicFeature	hp	UMLS:C4023445			http://purl.obolibrary.org/obo/HP_0011244	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	biolink:PhenotypicFeature	hp	UMLS:C4021190		Abnormality of posterior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011245	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	biolink:PhenotypicFeature	hp	UMLS:C4021189		Hypoplastic superior crus of antihelix|Hypotrophic superior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011246	Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
HP:0011247	Prominent superior crus of antihelix	biolink:PhenotypicFeature	hp	UMLS:C4021188		Hyperplastic superior crus of antihelix|Hypertrophic superior crus of antihelix	http://purl.obolibrary.org/obo/HP_0011247	Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
HP:0011248	Everted antitragus	biolink:PhenotypicFeature	hp	UMLS:C4023444			http://purl.obolibrary.org/obo/HP_0011248	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	biolink:PhenotypicFeature	hp	UMLS:C4023443			http://purl.obolibrary.org/obo/HP_0011249	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	biolink:PhenotypicFeature	hp	UMLS:C4021187		Double antitragus	http://purl.obolibrary.org/obo/HP_0011250	Double rather than single peak of the antitragus.
HP:0011251	Underdeveloped antitragus	biolink:PhenotypicFeature	hp	UMLS:C4021186		Hypoplastic antitragus|Hypotrophic antitragus|Small antitragus	http://purl.obolibrary.org/obo/HP_0011251	Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
HP:0011252	Cryptotia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:429967001|UMLS:C2315717	hposlim_core	Buried ear|Hidden ear	http://purl.obolibrary.org/obo/HP_0011252	Invagination of the superior part of the auricle under a fold of temporal skin.
HP:0011253	Type I cryptotia	biolink:PhenotypicFeature	hp	UMLS:C4023442		Type 1 cryptotia	http://purl.obolibrary.org/obo/HP_0011253	A type of cryptotia associated with reduction in size of the antihelix and superior crus.
HP:0011254	Type II cryptotia	biolink:PhenotypicFeature	hp	UMLS:C4023441		Type 2 cryptotia	http://purl.obolibrary.org/obo/HP_0011254	A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.
HP:0011255	Absent crus of helix	biolink:PhenotypicFeature	hp	UMLS:C4021185		Helix, crus, absent	http://purl.obolibrary.org/obo/HP_0011255	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	biolink:PhenotypicFeature	hp	UMLS:C4021184		Helix, crus, connected to antihelix	http://purl.obolibrary.org/obo/HP_0011256	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	biolink:PhenotypicFeature	hp	UMLS:C4021183		Helix, crus, serpiginous	http://purl.obolibrary.org/obo/HP_0011257	Curving course of the crus of the helix, approaching or joining the antitragus.
HP:0011258	Tragal bridge of crus of helix	biolink:PhenotypicFeature	hp	UMLS:C4021182		Helix, crus, tragal bridge	http://purl.obolibrary.org/obo/HP_0011258	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	biolink:PhenotypicFeature	hp	UMLS:C4021181		Helix, crus, expanded terminal portion	http://purl.obolibrary.org/obo/HP_0011259	Widening, rather than tapering, of the crus at its posterior border near the antihelix.
HP:0011260	Darwin notch of helix	biolink:PhenotypicFeature	hp	UMLS:C4021180		Helix, Darwin notch	http://purl.obolibrary.org/obo/HP_0011260	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	biolink:PhenotypicFeature	hp	UMLS:C4021179		Helix, Darwin tubercle	http://purl.obolibrary.org/obo/HP_0011261	Small expansion of the helical fold at the junction of the superior and descending portions of the helix.
HP:0011262	Crimped helix	biolink:PhenotypicFeature	hp	UMLS:C4021178		Helix, crimped|Indented helix	http://purl.obolibrary.org/obo/HP_0011262	Linear, circumferential indentation in the convexity of the outer surface of the helix.
HP:0011263	Forward facing earlobe	biolink:PhenotypicFeature	hp	UMLS:C4021177		Forward facing earlobe|Lobe, forward facing	http://purl.obolibrary.org/obo/HP_0011263	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	biolink:PhenotypicFeature	hp	UMLS:C4021176		Helix, discontinuous ascending root	http://purl.obolibrary.org/obo/HP_0011264	Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.
HP:0011265	Cleft earlobe	biolink:PhenotypicFeature	hp	UMLS:C4023440	hposlim_core	Cleft earlobe	http://purl.obolibrary.org/obo/HP_0011265	Discontinuity in the convexity of the inferior margin of the lobe.
HP:0011266	Microtia, first degree	biolink:PhenotypicFeature	hp	UMLS:C4021175		First-degree microtia	http://purl.obolibrary.org/obo/HP_0011266	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	biolink:PhenotypicFeature	hp	UMLS:C4021174|UMLS:C4280331		Abnormal shape/structure of ear|Third-degree microtia	http://purl.obolibrary.org/obo/HP_0011267	Presence of some auricular structures, but none of these structures conform to recognized ear components.
HP:0011268	Absent tragus	biolink:PhenotypicFeature	hp	UMLS:C4023439	hposlim_core		http://purl.obolibrary.org/obo/HP_0011268	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	biolink:PhenotypicFeature	hp	UMLS:C4021173		Notched tragus|Tragus, bifid	http://purl.obolibrary.org/obo/HP_0011269	Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.
HP:0011270	Duplicated tragus	biolink:PhenotypicFeature	hp	UMLS:C4021172		Accesory tragus|Tragus, duplicated	http://purl.obolibrary.org/obo/HP_0011270	A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.
HP:0011271	Prominent tragus	biolink:PhenotypicFeature	hp	UMLS:C4021171	hposlim_core	Enlarged tragus|Hyperplastic tragus|Hypertrophic tragus|Large tragus|Tragus, prominent	http://purl.obolibrary.org/obo/HP_0011271	Increase posterolateral protrusion of the tragus.
HP:0011272	Underdeveloped tragus	biolink:PhenotypicFeature	hp	UMLS:C4013429		Hypoplastic tragus|Hypotrophic tragus|Small tragus	http://purl.obolibrary.org/obo/HP_0011272	Decreased posterolateral protrusion of the tragus.
HP:0011273	Anisocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165475005|SNOMEDCT_US:57241006|UMLS:C0221278		Unequal size of red blood cells	http://purl.obolibrary.org/obo/HP_0011273	Abnormally increased variability in the size of erythrocytes.
HP:0011274	Recurrent mycobacterial infections	biolink:PhenotypicFeature	hp	UMLS:C4023438			http://purl.obolibrary.org/obo/HP_0011274	Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
HP:0011275	Recurrent mycobacterium avium complex infections	biolink:PhenotypicFeature	hp	UMLS:C1737260			http://purl.obolibrary.org/obo/HP_0011275	Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.
HP:0011276	Vascular skin abnormality	biolink:PhenotypicFeature	hp	MSH:D017445|SNOMEDCT_US:11263005|UMLS:C0162819|UMLS:C1842892		Skin vascular malformation|Vascular abnormalities restricted to skin	http://purl.obolibrary.org/obo/HP_0011276	
HP:0011277	Abnormality of the urinary system physiology	biolink:PhenotypicFeature	hp	UMLS:C4023437			http://purl.obolibrary.org/obo/HP_0011277	
HP:0011278	Intrapulmonary sequestration	biolink:PhenotypicFeature	hp	UMLS:C4023436			http://purl.obolibrary.org/obo/HP_0011278	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 concentration	biolink:PhenotypicFeature	hp	UMLS:C4023435		Abnormality of urine HCO3 concentration	http://purl.obolibrary.org/obo/HP_0011279	An abnormality of the concentration of hydrogencarbonate in the urine.
HP:0011280	Abnormality of urine calcium concentration	biolink:PhenotypicFeature	hp	UMLS:C4023434		Abnormality of urine Ca concentration|Abnormality of urine Ca2+ concentration	http://purl.obolibrary.org/obo/HP_0011280	An abnormality of calcium concentration in the urine.
HP:0011281	Abnormality of urine catecholamine concentration	biolink:PhenotypicFeature	hp	MP:0011478|UMLS:C4023433			http://purl.obolibrary.org/obo/HP_0011281	An abnormal level of urinary catecholamine concentration.
HP:0011282	Abnormality of hindbrain morphology	biolink:PhenotypicFeature	hp	UMLS:C4021170		Abnormal shape of hindbrain|Abnormality of the hindbrain	http://purl.obolibrary.org/obo/HP_0011282	An abnormality of the hindbrain, also known as the rhombencephalon.
HP:0011283	Abnormality of the metencephalon	biolink:PhenotypicFeature	hp	UMLS:C4023432			http://purl.obolibrary.org/obo/HP_0011283	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	biolink:PhenotypicFeature	hp	UMLS:C4023431			http://purl.obolibrary.org/obo/HP_0011284	A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.
HP:0011285	Long-segment aganglionic megacolon	biolink:PhenotypicFeature	hp	UMLS:C4023430			http://purl.obolibrary.org/obo/HP_0011285	A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.
HP:0011286	Total colonic aganglionosis	biolink:PhenotypicFeature	hp	MSH:D006627|SNOMEDCT_US:253780003|SNOMEDCT_US:360441005|UMLS:C0085758			http://purl.obolibrary.org/obo/HP_0011286	A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.
HP:0011287	EEG with occipital sharp slow waves	biolink:PhenotypicFeature	hp	UMLS:C4023429			http://purl.obolibrary.org/obo/HP_0011287	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	biolink:PhenotypicFeature	hp	UMLS:C4023428			http://purl.obolibrary.org/obo/HP_0011288	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	biolink:PhenotypicFeature	hp	UMLS:C4023427			http://purl.obolibrary.org/obo/HP_0011289	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	biolink:PhenotypicFeature	hp	UMLS:C4023426			http://purl.obolibrary.org/obo/HP_0011290	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	biolink:PhenotypicFeature	hp	UMLS:C4023425			http://purl.obolibrary.org/obo/HP_0011291	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	biolink:PhenotypicFeature	hp	UMLS:C2206521			http://purl.obolibrary.org/obo/HP_0011292	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	biolink:PhenotypicFeature	hp	UMLS:C2207327			http://purl.obolibrary.org/obo/HP_0011293	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	biolink:PhenotypicFeature	hp	UMLS:C2206518			http://purl.obolibrary.org/obo/HP_0011294	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	biolink:PhenotypicFeature	hp	UMLS:C2206520			http://purl.obolibrary.org/obo/HP_0011295	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	biolink:PhenotypicFeature	hp	UMLS:C2206519			http://purl.obolibrary.org/obo/HP_0011296	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	biolink:PhenotypicFeature	hp	UMLS:C3550704	hposlim_core	Abnormality of fingers or toes|Abnormality of digit|Digital anomalies	http://purl.obolibrary.org/obo/HP_0011297	A morphological abnormality of a digit, i.e., of a finger or toe.
HP:0011298	Prominent digit pad	biolink:PhenotypicFeature	hp	UMLS:C4023424		Prominent digit pad	http://purl.obolibrary.org/obo/HP_0011298	A soft tissue prominence of the ventral aspects of the fingertips or toe tips.
HP:0011299	Partial absence of finger	biolink:PhenotypicFeature	hp	UMLS:C4023423	hposlim_core	Partial absence of finger	http://purl.obolibrary.org/obo/HP_0011299	The absence of a phalangeal segment of a finger.
HP:0011300	Broad fingertip	biolink:PhenotypicFeature	hp	UMLS:C1968816	hposlim_core	Broad fingertip|Broad fingertips	http://purl.obolibrary.org/obo/HP_0011300	Increased width of the distal segment of a finger.
HP:0011301	Absent foot	biolink:PhenotypicFeature	hp	SNOMEDCT_US:371197005|UMLS:C0265624	hposlim_core	Absent foot|Aplasia of the foot|Apodia	http://purl.obolibrary.org/obo/HP_0011301	The total absence of the foot, with no bony elements distal to the tibia or fibula.
HP:0011302	Long palm	biolink:PhenotypicFeature	hp	UMLS:C4023422	hposlim_core	Long palm	http://purl.obolibrary.org/obo/HP_0011302	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	biolink:PhenotypicFeature	hp	UMLS:C4023421			http://purl.obolibrary.org/obo/HP_0011303	The contour of the foot in lateral profile has a convex shape.
HP:0011304	Broad thumb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249773003|UMLS:C0426891	hposlim_core	Broad thumb|Broad thumbs|Wide/broad thumb|Broad phalanges of the thumb|Wide/broad thumb phalanges	http://purl.obolibrary.org/obo/HP_0011304	Increased thumb width without increased dorso-ventral dimension.
HP:0011305	Partial absence of toe	biolink:PhenotypicFeature	hp	UMLS:C4021169		Partial absence of toe|Hypophalangy of toes	http://purl.obolibrary.org/obo/HP_0011305	The absence of a phalangeal segment of a toe or hallux.
HP:0011307	Splayed toes	biolink:PhenotypicFeature	hp	UMLS:C2117390		Splayed toes	http://purl.obolibrary.org/obo/HP_0011307	Divergence of digits along the anteroposterior axis (in the plane of the sole).
HP:0011308	Slender toe	biolink:PhenotypicFeature	hp	UMLS:C4021168		Narrow toe|Slender toe	http://purl.obolibrary.org/obo/HP_0011308	Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
HP:0011309	Tapered toe	biolink:PhenotypicFeature	hp	UMLS:C4021167		Tapered toe|Tapering toes	http://purl.obolibrary.org/obo/HP_0011309	The gradual reduction in girth of the toe from proximal to distal.
HP:0011310	Bridged palmar crease	biolink:PhenotypicFeature	hp	UMLS:C4021166		Bridged palm line|Transitional palmar crease	http://purl.obolibrary.org/obo/HP_0011310	A crease that connects the proximal and distal transverse palmar creases.
HP:0011311	Sydney crease	biolink:PhenotypicFeature	hp	UMLS:C4023420			http://purl.obolibrary.org/obo/HP_0011311	Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.
HP:0011312	Fused nails	biolink:PhenotypicFeature	hp	UMLS:C4023419		Fused nails	http://purl.obolibrary.org/obo/HP_0011312	A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.
HP:0011313	Narrow nail	biolink:PhenotypicFeature	hp	UMLS:C4021829		Narrow nail	http://purl.obolibrary.org/obo/HP_0011313	Decreased width of nail.
HP:0011314	Abnormality of long bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4021165		Abnormal shape of long bone|Abnormality of the tubular bones	http://purl.obolibrary.org/obo/HP_0011314	An abnormality of size or shape of the long bones.
HP:0011315	Unicoronal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4020756|UMLS:C4023418		Unilateral coronal suture craniosynostosis|Unilateral coronal suture synostosis|Unilateral coronal craniosynostosis	http://purl.obolibrary.org/obo/HP_0011315	Synostosis affecting only one of the coronal sutures.
HP:0011316	Left unicoronal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4023417			http://purl.obolibrary.org/obo/HP_0011316	Synostosis affecting only the left coronal suture.
HP:0011317	Right unicoronal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4023416			http://purl.obolibrary.org/obo/HP_0011317	Unicoronal synostosis affecting only the right coronal suture.
HP:0011318	Bicoronal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4021164	hposlim_core	Bilateral coronal craniosynostosis|Bilateral coronal suture craniosynostosis|Bilateral coronal suture synostosis	http://purl.obolibrary.org/obo/HP_0011318	Synostosis affecting the right and the left coronal suture.
HP:0011319	Bilambdoid synostosis	biolink:PhenotypicFeature	hp	UMLS:C4021163	hposlim_core	Bilateral lambdoid craniosynostosis|Bilateral lambdoid suture synostosis	http://purl.obolibrary.org/obo/HP_0011319	Premature synostosis of both lambdoid sutures.
HP:0011320	Unilambdoid synostosis	biolink:PhenotypicFeature	hp	UMLS:C4021162	hposlim_core	Unilateral lambdoid craniosynostosis|Unilateral lambdoid suture synostosis	http://purl.obolibrary.org/obo/HP_0011320	Premature synostosis of only one lambdoid suture.
HP:0011321	Left unilambdoid synostosis	biolink:PhenotypicFeature	hp	UMLS:C4023415			http://purl.obolibrary.org/obo/HP_0011321	Premature synostosis of only the left lambdoid suture.
HP:0011322	Right unilambdoid synostosis	biolink:PhenotypicFeature	hp	UMLS:C4023414			http://purl.obolibrary.org/obo/HP_0011322	Premature synostosis of only the right lambdoid suture.
HP:0011323	Cleft of chin	biolink:PhenotypicFeature	hp	UMLS:C1849227		Cleft of chin|Midline defect of chin	http://purl.obolibrary.org/obo/HP_0011323	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	biolink:PhenotypicFeature	hp	UMLS:C4021161		Multisutural craniosynostosis	http://purl.obolibrary.org/obo/HP_0011324	Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
HP:0011325	Pansynostosis	biolink:PhenotypicFeature	hp	UMLS:C4021827		Sysnostosis of all cranial sutures	http://purl.obolibrary.org/obo/HP_0011325	Craniosynostosis of all calvarial sutures.
HP:0011326	Anterior plagiocephaly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254020001|UMLS:C0432124|UMLS:C4023413|UMLS:C4280328|UMLS:C4280329|UMLS:C4280330		Anterior flat head syndrome|Deformational frontal plagiocephaly|Frontal plagiocephaly|Deformational anterior plagiocephaly|Positional anterior plagiocephaly|Positional frontal plagiocephaly|Coronal synostosis|Unicoronal craniosynostosis	http://purl.obolibrary.org/obo/HP_0011326	Asymmetry of the anterior part of the skull.
HP:0011327	Posterior plagiocephaly	biolink:PhenotypicFeature	hp	UMLS:C4021160		Deformational posterior plagiocephaly|Occipital plagiocephaly	http://purl.obolibrary.org/obo/HP_0011327	Asymmetry of the posterior part of the skull.
HP:0011328	Abnormality of fontanelles	biolink:PhenotypicFeature	hp	UMLS:C4020755	hposlim_core	Anomaly of the fontanelles	http://purl.obolibrary.org/obo/HP_0011328	An abnormality of the fontanelle.
HP:0011329	Abnormality of cranial sutures	biolink:PhenotypicFeature	hp	UMLS:C4023412		Abnormality of cranial sutures|Abnormality of the bregma sutures|Abnormality of the calvarium sutures|Abnormality of the cranial sutures|Abnormality of the skull suture	http://purl.obolibrary.org/obo/HP_0011329	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	biolink:PhenotypicFeature	hp	MSH:C562951|MSH:D003398|SNOMEDCT_US:109409003|UMLS:C0432122|UMLS:C1860819	hposlim_core	Metopic craniosynostosis|Metopic suture craniosynostosis	http://purl.obolibrary.org/obo/HP_0011330	Premature fusion of the metopic suture.
HP:0011331	Hemifacial atrophy	biolink:PhenotypicFeature	hp	MSH:D005150|SNOMEDCT_US:718224004|SNOMEDCT_US:95834000|UMLS:C0015458	hposlim_core	Atrophy of half of face|Atrophy of one side of the face|Facial hemiatrophy	http://purl.obolibrary.org/obo/HP_0011331	Unilateral atrophy of facial tissues, including muscles, bones and skin.
HP:0011332	Hemifacial hypoplasia	biolink:PhenotypicFeature	hp	MSH:D006053|SNOMEDCT_US:254025006|UMLS:C3495417|UMLS:C4023411		Decreased size of half of the face|Decreased size of one side of the face|Decrease in size of half of face|Decrease in size of one side of the face|Shrinking of half of face|Shrinking of one side of the face|Hemifacial microsomia	http://purl.obolibrary.org/obo/HP_0011332	Unilateral underdevelopment of the facial tissues, including muscles and bones.
HP:0011333	Asymmetric crying face	biolink:PhenotypicFeature	hp	MSH:C535349|SNOMEDCT_US:51409009|UMLS:C0431406|UMLS:C4280327		Asymmetric crying face|Partial unilateral facial paresis|Hypoplasia of depressor angula oris muscle	http://purl.obolibrary.org/obo/HP_0011333	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	biolink:PhenotypicFeature	hp	UMLS:C4021159		Facial shape deformation|Distortion of facial shape|Facial shape compression	http://purl.obolibrary.org/obo/HP_0011334	
HP:0011335	Frontal hirsutism	biolink:PhenotypicFeature	hp	UMLS:C1839830		Hairy forehead|Hirsute forehead	http://purl.obolibrary.org/obo/HP_0011335	Excessive amount of hair growth on forehead.
HP:0011336	Bitemporal forceps marks	biolink:PhenotypicFeature	hp	UMLS:C4020754|UMLS:C4023409		Bitemporal aplasia cutis congenita|Congenital ectodermal dysplasia of the face|Congenital, bilateral, scarlike facial lesions|Focal facial dermal dysplasia|Temporal skin defect	http://purl.obolibrary.org/obo/HP_0011336	Bilateral temporal scarlike defects, which are said to resemble forceps marks.
HP:0011337	Abnormality of mouth size	biolink:PhenotypicFeature	hp	UMLS:C4023408		Abnormality of mouth size|Anomaly of mouth size	http://purl.obolibrary.org/obo/HP_0011337	
HP:0011338	Abnormality of mouth shape	biolink:PhenotypicFeature	hp	Fyler:4874|UMLS:C4023407		Abnormality of mouth shape|Anomaly of mouth shape|Unusual mouth shape	http://purl.obolibrary.org/obo/HP_0011338	An abnormality of the outline, configuration, or contour of the mouth.
HP:0011339	Abnormality of upper lip vermillion	biolink:PhenotypicFeature	hp	UMLS:C4023406		Abnormality of the red part of the upper lip|Anomaly of the upper lip vermillion|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion	http://purl.obolibrary.org/obo/HP_0011339	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	biolink:PhenotypicFeature	hp	UMLS:C4021158		Incomplete cleft of the upper lip|Notched cleft of the upper lip|Partial cleft of the upper lip|Forme fruste unilateral cleft lip|Incomplete cheiloschisis	http://purl.obolibrary.org/obo/HP_0011340	A subtle unilateral cleft of the upper lip, which may appear as a small indentation.
HP:0011341	Long upper lip	biolink:PhenotypicFeature	hp	UMLS:C3151495		Elongation of upper lip|Increased height of upper lip|Increased vertical length of upper lip|Long upper lip	http://purl.obolibrary.org/obo/HP_0011341	Increased width of the upper lip.
HP:0011342	Mild global developmental delay	biolink:PhenotypicFeature	hp	UMLS:C2229182|UMLS:C4012968		Global developmental delay, mild|Psychomotor retardation, mild	http://purl.obolibrary.org/obo/HP_0011342	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	biolink:PhenotypicFeature	hp	UMLS:C2237142		Global developmental delay, moderate|Psychomotor retardation, moderate	http://purl.obolibrary.org/obo/HP_0011343	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	biolink:PhenotypicFeature	hp	UMLS:C1837397|UMLS:C1854919		Global developmental delay, severe|Severe psychomotor retardation	http://purl.obolibrary.org/obo/HP_0011344	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62211000119103|UMLS:C3532933			http://purl.obolibrary.org/obo/HP_0011345	A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0011346	Mild expressive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62231000119108|UMLS:C3532934			http://purl.obolibrary.org/obo/HP_0011346	A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
HP:0011347	Abnormality of ocular abduction	biolink:PhenotypicFeature	hp	UMLS:C4023405			http://purl.obolibrary.org/obo/HP_0011347	An abnormality involving the movement of the eye outwards.
HP:0011348	Abnormality of the sixth cranial nerve	biolink:PhenotypicFeature	hp	UMLS:C4023404			http://purl.obolibrary.org/obo/HP_0011348	An abnormality of the abducens nerve.
HP:0011349	Abducens palsy	biolink:PhenotypicFeature	hp	MSH:C564661|MSH:D020434|SNOMEDCT_US:398760006|SNOMEDCT_US:398925009|SNOMEDCT_US:398963001|UMLS:C0271355		Sixth nerve palsy	http://purl.obolibrary.org/obo/HP_0011349	Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward.
HP:0011350	Mild receptive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89501000119108|UMLS:C3532948			http://purl.obolibrary.org/obo/HP_0011350	A mild delay in the acquisition of the ability to understand the speech of others.
HP:0011351	Moderate receptive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89381000119107|UMLS:C3532946			http://purl.obolibrary.org/obo/HP_0011351	A moderate delay in the acquisition of the ability to understand the speech of others.
HP:0011352	Severe receptive language delay	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89391000119105|UMLS:C3532947			http://purl.obolibrary.org/obo/HP_0011352	A severe delay in the acquisition of the ability to understand the speech of others.
HP:0011353	Arterial intimal fibrosis	biolink:PhenotypicFeature	hp	UMLS:C4020753|UMLS:C4023403		Intimal fibrosis	http://purl.obolibrary.org/obo/HP_0011353	Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.
HP:0011354	Generalized abnormality of skin	biolink:PhenotypicFeature	hp	UMLS:C4021157		Generalised abnormality of skin|Generalized abnormality of skin	http://purl.obolibrary.org/obo/HP_0011354	An abnormality of the skin that is not localized to any one particular region.
HP:0011355	Localized skin lesion	biolink:PhenotypicFeature	hp	UMLS:C0850826		Localized skin lesion|Localised skin lesion	http://purl.obolibrary.org/obo/HP_0011355	A lesion of the skin that is located in a specific region rather than being generalized.
HP:0011356	Regional abnormality of skin	biolink:PhenotypicFeature	hp	UMLS:C4023402			http://purl.obolibrary.org/obo/HP_0011356	An abnormality of the skin that is restricted to a particular body region.
HP:0011357	obsolete Abnormality of hair density	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011357	
HP:0011358	Generalized hypopigmentation of hair	biolink:PhenotypicFeature	hp	UMLS:C4023400		Generalised hypopigmentation of hair	http://purl.obolibrary.org/obo/HP_0011358	Reduced pigmentation of hair diffusely.
HP:0011359	Dry hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:79395009|UMLS:C0277960		Dry hair	http://purl.obolibrary.org/obo/HP_0011359	Hair that lacks the lustre (shine or gleam) of normal hair.
HP:0011360	Acquired abnormal hair pattern	biolink:PhenotypicFeature	hp	UMLS:C4023399		Acquired abnormal hair pattern	http://purl.obolibrary.org/obo/HP_0011360	An abnormality of the distribution of hair growth that is acquired during the course of life.
HP:0011361	Congenital abnormal hair pattern	biolink:PhenotypicFeature	hp	UMLS:C4023398		Abnormal hair pattern since birth	http://purl.obolibrary.org/obo/HP_0011361	A congenital abnormality of the distribution of hair growth.
HP:0011362	Abnormal hair quantity	biolink:PhenotypicFeature	hp	UMLS:C4023397|UMLS:C4023401		Abnormal hair quantity|Abnormality of hair density	http://purl.obolibrary.org/obo/HP_0011362	An abnormal amount of hair.
HP:0011363	Abnormality of hair growth rate	biolink:PhenotypicFeature	hp	UMLS:C4023396		Abnormality of hair growth rate|Abnormality of pace of hair growth|Abnormality of speed of hair growth	http://purl.obolibrary.org/obo/HP_0011363	Hair whose growth rate deviates from the norm.
HP:0011364	White hair	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297993006|UMLS:C0239804		White hair	http://purl.obolibrary.org/obo/HP_0011364	Hypopigmented hair that appears white.
HP:0011365	Patchy hypopigmentation of hair	biolink:PhenotypicFeature	hp	UMLS:C4023395			http://purl.obolibrary.org/obo/HP_0011365	Reduced pigmentation of hair in patches.
HP:0011367	Yellow nails	biolink:PhenotypicFeature	hp	SNOMEDCT_US:45342007|UMLS:C1768507		Yellow nails	http://purl.obolibrary.org/obo/HP_0011367	Yellowish discoloration of the nails.
HP:0011368	Epidermal thickening	biolink:PhenotypicFeature	hp	UMLS:C0494876|UMLS:C4020752		Abnormality of keratinization	http://purl.obolibrary.org/obo/HP_0011368	Thickening of the epidermal layer of the skin.
HP:0011369	Mongolian blue spot	biolink:PhenotypicFeature	hp	MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985			http://purl.obolibrary.org/obo/HP_0011369	Congenital deep dermal melanosis in the sacral area.
HP:0011370	Recurrent cutaneous fungal infections	biolink:PhenotypicFeature	hp	UMLS:C4023394			http://purl.obolibrary.org/obo/HP_0011370	Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.
HP:0011371	Recurrent viral skin infections	biolink:PhenotypicFeature	hp	UMLS:C4023393		Recurrent viral skin infections	http://purl.obolibrary.org/obo/HP_0011371	Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.
HP:0011372	Aplasia of the inner ear	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71973003|UMLS:C0266604		Absent inner ear|Aplasia of the labyrinth|Labyrinthine aplasia|Michel deformity	http://purl.obolibrary.org/obo/HP_0011372	Absence of the inner ear due to a developmental defect.
HP:0011373	Incomplete partition of the cochlea	biolink:PhenotypicFeature	hp	UMLS:C4023392			http://purl.obolibrary.org/obo/HP_0011373	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	biolink:PhenotypicFeature	hp	UMLS:C4023391			http://purl.obolibrary.org/obo/HP_0011374	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	biolink:PhenotypicFeature	hp	UMLS:C4023390		Absent cochlea	http://purl.obolibrary.org/obo/HP_0011375	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	biolink:PhenotypicFeature	hp	UMLS:C0542259		Vestibular abnormality	http://purl.obolibrary.org/obo/HP_0011376	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	biolink:PhenotypicFeature	hp	UMLS:C4023389		Absent vestibule	http://purl.obolibrary.org/obo/HP_0011377	Complete absence of the vestibule of the inner ear.
HP:0011378	Hypoplasia of the vestibule of the inner ear	biolink:PhenotypicFeature	hp	UMLS:C4023388			http://purl.obolibrary.org/obo/HP_0011378	Underdevelopment of the vestibule of the inner ear.
HP:0011379	Dilated vestibule of the inner ear	biolink:PhenotypicFeature	hp	UMLS:C4023387			http://purl.obolibrary.org/obo/HP_0011379	Dilatation of the vestibule of the inner ear.
HP:0011380	Morphological abnormality of the semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C4023386			http://purl.obolibrary.org/obo/HP_0011380	An abnormality of the morphology of the semicircular canal.
HP:0011381	Aplasia of the semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C4023385		Absent semicircular canal	http://purl.obolibrary.org/obo/HP_0011381	Absence of the semicircular canal.
HP:0011382	Hypoplasia of the semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C3552156		Small semicircular canal|Hypoplasia of the semicircular canals	http://purl.obolibrary.org/obo/HP_0011382	Underdevelopment of the semicircular canal.
HP:0011383	Enlarged semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C4021156		Dilated semicircular canal	http://purl.obolibrary.org/obo/HP_0011383	Increased size of the semicircular canal.
HP:0011384	Abnormality of the internal auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4021155		Abnormality of the internal acoustic meatus	http://purl.obolibrary.org/obo/HP_0011384	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	biolink:PhenotypicFeature	hp	UMLS:C4023384			http://purl.obolibrary.org/obo/HP_0011385	Aplasia of the internal auditory canal.
HP:0011386	Narrow internal auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4023383			http://purl.obolibrary.org/obo/HP_0011386	Reduction in diameter of the internal auditory canal.
HP:0011387	Enlarged vestibular aqueduct	biolink:PhenotypicFeature	hp	MSH:C566366|UMLS:C1863752		Dilated vestibular aqueduct|Widened vestibular aqueduct	http://purl.obolibrary.org/obo/HP_0011387	Increased size of the vestibular aqueduct.
HP:0011388	Enlarged cochlear aqueduct	biolink:PhenotypicFeature	hp	UMLS:C4021154		Dilated cochlear aqueduct	http://purl.obolibrary.org/obo/HP_0011388	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	biolink:PhenotypicFeature	hp	UMLS:C4023382		Functional abnormality of the inner ear	http://purl.obolibrary.org/obo/HP_0011389	An abnormality of the function of the inner ear.
HP:0011390	Morphological abnormality of the inner ear	biolink:PhenotypicFeature	hp	UMLS:C4023381			http://purl.obolibrary.org/obo/HP_0011390	A structural anomaly of the internal part of the ear.
HP:0011391	Morphological abnormality of the nerves of the inner ear	biolink:PhenotypicFeature	hp	UMLS:C4023380			http://purl.obolibrary.org/obo/HP_0011391	
HP:0011392	Abnormality of the vestibular nerve	biolink:PhenotypicFeature	hp	UMLS:C4023379			http://purl.obolibrary.org/obo/HP_0011392	
HP:0011393	Aplasia of the vestibular nerve.	biolink:PhenotypicFeature	hp	UMLS:C4020751|UMLS:C4021153		Absent cranial nerve viii|Absent the eighth cranial nerve|Absent vestribular nerve|Aplasia of the eighth cranial nerve|Aplasia of cranial nerve VIII	http://purl.obolibrary.org/obo/HP_0011393	Absence of the vestibular nerve
HP:0011394	Hypoplasia of the vestibular nerve	biolink:PhenotypicFeature	hp	UMLS:C4020750		Hypoplasia of the eighth cranial nerve|Thin vestibular nerve|Hypoplasia of cranial nerve VIII	http://purl.obolibrary.org/obo/HP_0011394	Underdevelopment of the vestibular nerve.
HP:0011395	Aplasia/Hypoplasia of the cochlea	biolink:PhenotypicFeature	hp	UMLS:C4023378		Absent/small cochlea|Absent/underdeveloped cochlea	http://purl.obolibrary.org/obo/HP_0011395	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	biolink:PhenotypicFeature	hp	UMLS:C4023377			http://purl.obolibrary.org/obo/HP_0011396	
HP:0011397	Abnormality of the dorsal column of the spinal cord	biolink:PhenotypicFeature	hp	UMLS:C4023376			http://purl.obolibrary.org/obo/HP_0011397	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:0011398	obsolete Central hypotonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011398	
HP:0011399	Tibialis atrophy	biolink:PhenotypicFeature	hp	UMLS:C4023375		Tibialis muscle degeneration	http://purl.obolibrary.org/obo/HP_0011399	Atrophy of the tibialis muscle.
HP:0011400	Abnormal CNS myelination	biolink:PhenotypicFeature	hp	UMLS:C4021152		Abnormal formation of myelin sheaths	http://purl.obolibrary.org/obo/HP_0011400	An abnormality of myelination of nerves in the central nervous system.
HP:0011401	Delayed peripheral myelination	biolink:PhenotypicFeature	hp	UMLS:C4023374			http://purl.obolibrary.org/obo/HP_0011401	Delayed myelination in the peripheral nervous system.
HP:0011402	Demyelinating sensory neuropathy	biolink:PhenotypicFeature	hp	UMLS:C4023373			http://purl.obolibrary.org/obo/HP_0011402	Demyelination of peripheral sensory nerves.
HP:0011403	Abnormal umbilical cord blood vessels	biolink:PhenotypicFeature	hp	UMLS:C4023372			http://purl.obolibrary.org/obo/HP_0011403	
HP:0011404	Lethal short-trunk short stature	biolink:PhenotypicFeature	hp	UMLS:C4021151		Lethal short-trunk dwarfism	http://purl.obolibrary.org/obo/HP_0011404	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	biolink:PhenotypicFeature	hp	UMLS:C1867487		Short-limb dwarfism identifiable during childhood	http://purl.obolibrary.org/obo/HP_0011405	
HP:0011406	Infancy onset short-trunk short stature	biolink:PhenotypicFeature	hp	UMLS:C1846061		Short-trunk dwarfism, identifiable in infancy	http://purl.obolibrary.org/obo/HP_0011406	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	biolink:PhenotypicFeature	hp	UMLS:C4023371			http://purl.obolibrary.org/obo/HP_0011407	
HP:0011408	Moderate intrauterine growth retardation	biolink:PhenotypicFeature	hp	UMLS:C4023370			http://purl.obolibrary.org/obo/HP_0011408	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	biolink:PhenotypicFeature	hp	UMLS:C4023369		Abnormality of placental membranes	http://purl.obolibrary.org/obo/HP_0011409	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:200144004|UMLS:C1384674		Caesarian section	http://purl.obolibrary.org/obo/HP_0011410	Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).
HP:0011411	Forceps delivery	biolink:PhenotypicFeature	hp	UMLS:C0341808		Forceps delivery	http://purl.obolibrary.org/obo/HP_0011411	
HP:0011412	Ventouse delivery	biolink:PhenotypicFeature	hp	MSH:D014620|SNOMEDCT_US:10761101000119105|SNOMEDCT_US:61586001|UMLS:C0042225|UMLS:C1456852|UMLS:C2825567		Vacuum extraction|Vacuum-assisted vaginal delivery	http://purl.obolibrary.org/obo/HP_0011412	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89700002|UMLS:C0269825			http://purl.obolibrary.org/obo/HP_0011413	Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.
HP:0011414	Hydropic placenta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75094005|UMLS:C0270254		Hydrops of the placenta	http://purl.obolibrary.org/obo/HP_0011414	An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.
HP:0011415	Calcified placenta	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249174002|UMLS:C0426234			http://purl.obolibrary.org/obo/HP_0011415	
HP:0011416	Placental infarction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:268585006|UMLS:C0554393		Placental thromboembolism	http://purl.obolibrary.org/obo/HP_0011416	
HP:0011417	Long umbilical cord	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237261008|UMLS:C0405028		Long umbilical cord	http://purl.obolibrary.org/obo/HP_0011417	Increased length of the umbilical cord.
HP:0011418	Abnormal insertion of umbilical cord	biolink:PhenotypicFeature	hp	MSH:D055949|SNOMEDCT_US:79668009|UMLS:C0269852		Vasa previa	http://purl.obolibrary.org/obo/HP_0011418	
HP:0011419	Placental abruption	biolink:PhenotypicFeature	hp	MSH:D000037|SNOMEDCT_US:405736009|SNOMEDCT_US:415105001|UMLS:C0000832		Abruptio placentae	http://purl.obolibrary.org/obo/HP_0011419	Separation of the placenta from the uterus wall before delivery.
HP:0011420	Age of death	biolink:PhenotypicFeature	hp	UMLS:C1546180			http://purl.obolibrary.org/obo/HP_0011420	The age group when the cessation of life happens.
HP:0011421	Death in adolescence	biolink:PhenotypicFeature	hp	UMLS:C4023368		Death in adolescence	http://purl.obolibrary.org/obo/HP_0011421	Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).
HP:0011422	Abnormal blood chloride concentration	biolink:PhenotypicFeature	hp	UMLS:C4023367		Abnormal blood Cl concentration|Abnormal blood Cl- concentration|Abnormality of chloride homeostasis	http://purl.obolibrary.org/obo/HP_0011422	An abnormality of chloride homeostasis or concentration in the body.
HP:0011423	Hyperchloremia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:74450001|UMLS:C0085679			http://purl.obolibrary.org/obo/HP_0011423	An abnormally increased chloride concentration in the blood.
HP:0011424	Increased serum zinc	biolink:PhenotypicFeature	hp	UMLS:C0854520|UMLS:C0856208		Hyperzincemia	http://purl.obolibrary.org/obo/HP_0011424	An increased consentration of zinc in the blood.
HP:0011425	Fetal ultrasound soft marker	biolink:PhenotypicFeature	hp	UMLS:C4023366		Foetal ultrasound soft marker	http://purl.obolibrary.org/obo/HP_0011425	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:462165005|UMLS:C3532166		Foetal choroid plexus cysts	http://purl.obolibrary.org/obo/HP_0011426	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	biolink:PhenotypicFeature	hp	UMLS:C4023365		Enlarged foetal cisterna magna	http://purl.obolibrary.org/obo/HP_0011427	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	biolink:PhenotypicFeature	hp	UMLS:C0743924		Short fetal thigh bone length|Short foetal femur length	http://purl.obolibrary.org/obo/HP_0011428	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	biolink:PhenotypicFeature	hp	UMLS:C4023364		Short fetal long bone in upper arm length|Short foetal humerus length	http://purl.obolibrary.org/obo/HP_0011429	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	biolink:PhenotypicFeature	hp	UMLS:C4023363		Underdeveloped fetal nose bone|Hypoplasia of foetal nasal bone	http://purl.obolibrary.org/obo/HP_0011430	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	biolink:PhenotypicFeature	hp	UMLS:C4023362|UMLS:C4280326		Fetal little finger curvature|Fetal pinkie finger curvature|Fetal pinky finger curvature|Foetal fifth finger clinodactyly	http://purl.obolibrary.org/obo/HP_0011431	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 serum alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C4023361			http://purl.obolibrary.org/obo/HP_0011432	An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.
HP:0011433	High maternal serum chorionic gonadotropin	biolink:PhenotypicFeature	hp	UMLS:C4021150		High maternal serum hCG	http://purl.obolibrary.org/obo/HP_0011433	An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.
HP:0011434	Low maternal serum chorionic gonadotropin	biolink:PhenotypicFeature	hp	UMLS:C4021149		Low maternal serum hCG	http://purl.obolibrary.org/obo/HP_0011434	An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.
HP:0011435	Low maternal serum PAPP-A	biolink:PhenotypicFeature	hp	UMLS:C4023360			http://purl.obolibrary.org/obo/HP_0011435	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	biolink:PhenotypicFeature	hp	UMLS:C4023359			http://purl.obolibrary.org/obo/HP_0011436	An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.
HP:0011437	Maternal autoimmune disease	biolink:PhenotypicFeature	hp	UMLS:C4023358			http://purl.obolibrary.org/obo/HP_0011437	A medical history of a fetus or child born to a mother with an autoimmune disease.
HP:0011438	Maternal teratogenic exposure	biolink:PhenotypicFeature	hp	UMLS:C4023357			http://purl.obolibrary.org/obo/HP_0011438	A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.
HP:0011439	Anesthetic-induced rhabdomylosis	biolink:PhenotypicFeature	hp	UMLS:C4023356			http://purl.obolibrary.org/obo/HP_0011439	Rhabdomyolysis induced by anesthesia.
HP:0011440	Alcohol-induced rhabdomyolysis	biolink:PhenotypicFeature	hp	UMLS:C4023355			http://purl.obolibrary.org/obo/HP_0011440	Rhabdomyolysis induced by intake of alcohol.
HP:0011441	Abnormality of the medulla oblongata	biolink:PhenotypicFeature	hp	UMLS:C4021148		Abnormality of the myencephalon	http://purl.obolibrary.org/obo/HP_0011441	An abnormality of the medulla oblongata, the lower half of the brainstem.
HP:0011442	Abnormal central motor function	biolink:PhenotypicFeature	hp	UMLS:C4023354		Abnormality of central motor function	http://purl.obolibrary.org/obo/HP_0011442	An anomaly of the control or production of movement in the central nervous system.
HP:0011443	Abnormality of coordination	biolink:PhenotypicFeature	hp	UMLS:C4023353		Abnormality of coordination|Coordination issue	http://purl.obolibrary.org/obo/HP_0011443	
HP:0011444	Decorticate rigidity	biolink:PhenotypicFeature	hp	MSH:D003655|SNOMEDCT_US:36423000|UMLS:C0231521			http://purl.obolibrary.org/obo/HP_0011444	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	biolink:PhenotypicFeature	hp	MSH:D002547|SNOMEDCT_US:230780007|SNOMEDCT_US:75019001|UMLS:C0270742		Dyskinetic cerebral palsy	http://purl.obolibrary.org/obo/HP_0011445	A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.
HP:0011446	Abnormality of higher mental function	biolink:PhenotypicFeature	hp	UMLS:C4023352			http://purl.obolibrary.org/obo/HP_0011446	Cognitive, psychiatric or memory anomaly.
HP:0011447	Hyposegmentation of neutrophil nuclei	biolink:PhenotypicFeature	hp	MSH:D010381|SNOMEDCT_US:85559002|UMLS:C0030779|UMLS:C4023351		Hyposegmentation of neutrophil nuclei in peripheral blood|Pelger-Huet anomaly	http://purl.obolibrary.org/obo/HP_0011447	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
HP:0011448	Ankle clonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39055007|UMLS:C0238651		Abnormal rhythmic movements of ankle	http://purl.obolibrary.org/obo/HP_0011448	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:54360005|UMLS:C0520823		Patellar clonus	http://purl.obolibrary.org/obo/HP_0011449	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	biolink:PhenotypicFeature	hp	MSH:D002494|SNOMEDCT_US:128117002|UMLS:C0007684		Central nervous system infection	http://purl.obolibrary.org/obo/HP_0011450	A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
HP:0011451	Congenital microcephaly	biolink:PhenotypicFeature	hp	UMLS:C2677180|UMLS:C4020749		Small head present at birth|Congenital small head|Congenital small head circumference|Small head circumference present at birth|Small skull present at birth|Congenital decreased head circumference|Congenital small skull|Decreased head circumference present at birth|Microcephaly present at birth|Small cranium present at birth|Head circumference small for gestational age	http://purl.obolibrary.org/obo/HP_0011451	Head circumference below 2 standard deviations below the mean for age and gender at birth.
HP:0011452	Functional abnormality of the middle ear	biolink:PhenotypicFeature	hp	UMLS:C4021846		Functional abnormality of the middle ear	http://purl.obolibrary.org/obo/HP_0011452	An abnormality of the function of the middle ear.
HP:0011453	Abnormality of the incus	biolink:PhenotypicFeature	hp	UMLS:C4023350			http://purl.obolibrary.org/obo/HP_0011453	An abnormality of the incus, an ossicle in the middle ear.
HP:0011454	Abnormality of the malleus	biolink:PhenotypicFeature	hp	UMLS:C4023349			http://purl.obolibrary.org/obo/HP_0011454	An abnormality of the malleus, an ossicle in the middle ear.
HP:0011455	Absent malleus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300169003|UMLS:C0576900			http://purl.obolibrary.org/obo/HP_0011455	Aplasia of the malleus.
HP:0011456	Absent stapes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300178009|UMLS:C0576909			http://purl.obolibrary.org/obo/HP_0011456	Aplasia of the stapes.
HP:0011457	Loss of eyelashes	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34887006|UMLS:C0271321		Eyelashes fell out|Loss of eyelashes|Missing eyelashes|Ciliary Madarosis|Milphosis	http://purl.obolibrary.org/obo/HP_0011457	This term refers to the loss of eyelashes that were previously present.
HP:0011458	Abdominal symptom	biolink:PhenotypicFeature	hp	UMLS:C0740651			http://purl.obolibrary.org/obo/HP_0011458	A subjective manifestation of disease localized to the abdomen.
HP:0011459	Esophageal carcinoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:372138000|UMLS:C0152018			http://purl.obolibrary.org/obo/HP_0011459	The presence of a carcinoma of the esophagus.
HP:0011460	Embryonal onset	biolink:PhenotypicFeature	hp	UMLS:C4023348			http://purl.obolibrary.org/obo/HP_0011460	Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).
HP:0011461	Fetal onset	biolink:PhenotypicFeature	hp	UMLS:C4023347		Foetal onset	http://purl.obolibrary.org/obo/HP_0011461	Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).
HP:0011462	Young adult onset	biolink:PhenotypicFeature	hp	UMLS:C3554568			http://purl.obolibrary.org/obo/HP_0011462	Onset of disease at the age of between 16 and 40 years.
HP:0011463	Childhood onset	biolink:PhenotypicFeature	hp	UMLS:C1837352		Symptoms begin in childhood	http://purl.obolibrary.org/obo/HP_0011463	Onset of disease at the age of between 1 and 5 years.
HP:0011464	Aganglionosis of the small intestine	biolink:PhenotypicFeature	hp	UMLS:C4023346			http://purl.obolibrary.org/obo/HP_0011464	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.
HP:0011465	Duodenal aganglionosis	biolink:PhenotypicFeature	hp	UMLS:C4023345			http://purl.obolibrary.org/obo/HP_0011465	A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.
HP:0011466	Aplasia/Hypoplasia of the gallbladder	biolink:PhenotypicFeature	hp	UMLS:C4023344		Absent/small gallbladder|Absent/underdeveloped gallbladder	http://purl.obolibrary.org/obo/HP_0011466	Absence or underdevelopment of the gallbladder.
HP:0011467	Absent gallbladder	biolink:PhenotypicFeature	hp	MSH:C562564|SNOMEDCT_US:86507001|UMLS:C0266251		Absent gallbladder|Agenesis of the gallbladder|Aplasia of the gallbladder	http://purl.obolibrary.org/obo/HP_0011467	A developmental defect in which the gallbladder fails to form.
HP:0011468	Facial tics	biolink:PhenotypicFeature	hp	SNOMEDCT_US:230335009|SNOMEDCT_US:32402008|UMLS:C0278151|UMLS:C0338467|UMLS:C0858722|UMLS:C4280324|UMLS:C4280325		Cramping of facial muscles|Facial spasms|Facial tics|Jerking of facial muscles|Mimic spasms|Spasms of facial muscles|Twitching of facial muscles|Involuntary facial muscle spasms|Muscle spasm of face|Myoclonus of facial muscles	http://purl.obolibrary.org/obo/HP_0011468	Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.
HP:0011469	Nasal regurgitation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:85023004|UMLS:C0232608			http://purl.obolibrary.org/obo/HP_0011469	Regurgitation of milk through the nose.
HP:0011470	Nasogastric tube feeding in infancy	biolink:PhenotypicFeature	hp	UMLS:C4023343			http://purl.obolibrary.org/obo/HP_0011470	Feeding problem necessitating nasogastric tube feeding.
HP:0011471	Gastrostomy tube feeding in infancy	biolink:PhenotypicFeature	hp	UMLS:C4020748|UMLS:C4023342		PEG-fed in infancy	http://purl.obolibrary.org/obo/HP_0011471	Feeding problem necessitating gastrostomy tube feeding.
HP:0011472	Abnormality of small intestinal villus morphology	biolink:PhenotypicFeature	hp	UMLS:C4023341		Abnormal shape of small intestinal villus	http://purl.obolibrary.org/obo/HP_0011472	
HP:0011473	Villous atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:275403002|SNOMEDCT_US:75581001|UMLS:C0267456|UMLS:C0554101|UMLS:C1833058|UMLS:C1859541|UMLS:C2677378|UMLS:C4020747	hposlim_core	Atrophy of small intestinal villi|Villous degeneration|Biopsy shows villous atrophy|Duodenal villous atrophy|Small intestine biopsy shows villous atrophy|Variable degree of villous atrophy	http://purl.obolibrary.org/obo/HP_0011473	The enteric villi are atrophic or absent.
HP:0011474	Childhood onset sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4023340			http://purl.obolibrary.org/obo/HP_0011474	Sensorineural hearing impairment with childhood onset.
HP:0011475	Persistent stapedial artery	biolink:PhenotypicFeature	hp	UMLS:C4023339			http://purl.obolibrary.org/obo/HP_0011475	Persistence of the stapedial artery, which normally regresses during embryonic life.
HP:0011476	Profound sensorineural hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4023338			http://purl.obolibrary.org/obo/HP_0011476	Complete loss of hearing related to a sensorineural defect.
HP:0011477	Upbeat nystagmus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:307677002|UMLS:C0585545			http://purl.obolibrary.org/obo/HP_0011477	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	biolink:PhenotypicFeature	hp	UMLS:C2675590		Completely missing eyeball|Complete anophthalmia|Total anophthalmia	http://purl.obolibrary.org/obo/HP_0011478	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	biolink:PhenotypicFeature	hp	UMLS:C4023337		Abnormality of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0011479	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	biolink:PhenotypicFeature	hp	UMLS:C3640024|UMLS:C4280323		Abnormally small eyeball on one side|Unilateral nanophthalmos	http://purl.obolibrary.org/obo/HP_0011480	A developmental anomaly characterized by abnormal smallness of one eye.
HP:0011481	Abnormal lacrimal duct morphology	biolink:PhenotypicFeature	hp	UMLS:C1858567		Abnormality of the lacrimal canaliculus|Abnormality of the lacrimal duct	http://purl.obolibrary.org/obo/HP_0011481	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	biolink:PhenotypicFeature	hp	UMLS:C4023336		Abnormality of the lacrimal gland	http://purl.obolibrary.org/obo/HP_0011482	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70992005|UMLS:C0152252		Anterior synechiae|Cornea-iris adhesion|Iridocorneal synechia	http://purl.obolibrary.org/obo/HP_0011483	Adhesions between the iris and the cornea.
HP:0011484	Posterior synechiae of the anterior chamber	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111512005|UMLS:C0152253		Iridolenticular adhesions|Posterior synechiae	http://purl.obolibrary.org/obo/HP_0011484	Adhesions between the iris and the lens.
HP:0011485	Corneolenticular adhesion	biolink:PhenotypicFeature	hp	UMLS:C4023334			http://purl.obolibrary.org/obo/HP_0011485	Developmental abnormality in which the lens and cornea are not separated.
HP:0011486	Abnormality of corneal thickness	biolink:PhenotypicFeature	hp	UMLS:C4023333			http://purl.obolibrary.org/obo/HP_0011486	An abnormal anteroposterior thickness of the cornea.
HP:0011487	Increased corneal thickness	biolink:PhenotypicFeature	hp	UMLS:C3810451			http://purl.obolibrary.org/obo/HP_0011487	A increased anteroposterior thickness of the cornea.
HP:0011488	Abnormal corneal endothelium morphology	biolink:PhenotypicFeature	hp	UMLS:C4023332		Abnormality of corneal endothelium	http://purl.obolibrary.org/obo/HP_0011488	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	biolink:PhenotypicFeature	hp	UMLS:C4023331			http://purl.obolibrary.org/obo/HP_0011489	Abnormal migration of corneal endothelium.
HP:0011490	Abnormal Descemet membrane morphology	biolink:PhenotypicFeature	hp	UMLS:C4023330		Abnormality of Descemet's membrane	http://purl.obolibrary.org/obo/HP_0011490	Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.
HP:0011491	Reduced number of corneal endothelial cells	biolink:PhenotypicFeature	hp	UMLS:C4023329			http://purl.obolibrary.org/obo/HP_0011491	A reduction in the number of corneal endothelial cells.
HP:0011492	Abnormality of corneal stroma	biolink:PhenotypicFeature	hp	UMLS:C4023328			http://purl.obolibrary.org/obo/HP_0011492	An abnormality of the stroma of cornea, also known as the substantia propria of cornea.
HP:0011493	Central opacification of the cornea	biolink:PhenotypicFeature	hp	UMLS:C4023327			http://purl.obolibrary.org/obo/HP_0011493	Reduced transparency of the central portion of the corneal stroma.
HP:0011494	Generalized opacification of the cornea	biolink:PhenotypicFeature	hp	UMLS:C4021147		Generalised opacification of the cornea	http://purl.obolibrary.org/obo/HP_0011494	Generalized reduced transparency of the stroma of the cornea.
HP:0011495	Abnormal corneal epithelium morphology	biolink:PhenotypicFeature	hp	UMLS:C4023326		Abnormality of corneal epithelium	http://purl.obolibrary.org/obo/HP_0011495	Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.
HP:0011496	Corneal neovascularization	biolink:PhenotypicFeature	hp	MSH:D016510|SNOMEDCT_US:19161004|UMLS:C0085109		New blood vessel formation in cornea|Corneal neovascularisation|Corneal vascularization|Limbal neovascularization	http://purl.obolibrary.org/obo/HP_0011496	Ingrowth of new blood vessels into the cornea.
HP:0011497	Iris neovascularization	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51995000|UMLS:C0154916		New blood vessel formation in iris|Neovascularization of the iris	http://purl.obolibrary.org/obo/HP_0011497	New growth of vessels on the surface of the iris.
HP:0011498	obsolete Partial aniridia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011498	
HP:0011499	Mydriasis	biolink:PhenotypicFeature	hp	MSH:D015878|SNOMEDCT_US:37125009|UMLS:C0026961	hposlim_core	Dilated pupil	http://purl.obolibrary.org/obo/HP_0011499	Abnormal dilatation of the iris.
HP:0011500	Polycoria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204159004|UMLS:C0344544		Multiple pupils	http://purl.obolibrary.org/obo/HP_0011500	Multiple pupils.
HP:0011501	Anterior lenticonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95480008|UMLS:C0344262			http://purl.obolibrary.org/obo/HP_0011501	A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
HP:0011502	Posterior lenticonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95482000|UMLS:C0344263			http://purl.obolibrary.org/obo/HP_0011502	A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.
HP:0011503	Aplasia of the fovea	biolink:PhenotypicFeature	hp	UMLS:C4023324		Absent fovea	http://purl.obolibrary.org/obo/HP_0011503	Congenital absence of the fovea.
HP:0011504	Bull's eye maculopathy	biolink:PhenotypicFeature	hp	MSH:C537833|SNOMEDCT_US:312958000|SNOMEDCT_US:424169002|UMLS:C0730330|UMLS:C1828210		Chloroquine retinopathy	http://purl.obolibrary.org/obo/HP_0011504	Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
HP:0011505	Cystoid macular edema	biolink:PhenotypicFeature	hp	MSH:D008269|SNOMEDCT_US:193387007|UMLS:C0024440		Cystoid macular oedema	http://purl.obolibrary.org/obo/HP_0011505	Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.
HP:0011506	Choroidal neovascularization	biolink:PhenotypicFeature	hp	UMLS:C4023323			http://purl.obolibrary.org/obo/HP_0011506	Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
HP:0011507	Macular flecks	biolink:PhenotypicFeature	hp	UMLS:C4023322			http://purl.obolibrary.org/obo/HP_0011507	Pale often indistinct lesions of the macula.
HP:0011508	Macular hole	biolink:PhenotypicFeature	hp	MSH:D012167|SNOMEDCT_US:232006002|UMLS:C0024441			http://purl.obolibrary.org/obo/HP_0011508	A macular hole is a small break in the macula, located in the center of the retina.
HP:0011509	Macular hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C0745109			http://purl.obolibrary.org/obo/HP_0011509	Increased amount of pigmentation in the macula lutea.
HP:0011510	Drusen	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18695008|UMLS:C1260959			http://purl.obolibrary.org/obo/HP_0011510	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	biolink:PhenotypicFeature	hp	UMLS:C4023321			http://purl.obolibrary.org/obo/HP_0011511	Splitting of the retina in the macular region.
HP:0011512	Hyperpigmentation of the fundus	biolink:PhenotypicFeature	hp	UMLS:C4021146		Hyperpigmented fundi|Hyperpigmented fundus	http://purl.obolibrary.org/obo/HP_0011512	Increased pigmentation of the fundus
HP:0011513	Retinal cavernous angioma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:312937006|UMLS:C0730304			http://purl.obolibrary.org/obo/HP_0011513	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	biolink:PhenotypicFeature	hp	UMLS:C4023320			http://purl.obolibrary.org/obo/HP_0011514	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	biolink:PhenotypicFeature	hp	UMLS:C4023319			http://purl.obolibrary.org/obo/HP_0011515	Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.
HP:0011516	Achromatopsia	biolink:PhenotypicFeature	hp	MSH:C536021|SNOMEDCT_US:102450007|UMLS:C0302129		Rod monochromacy|Rod monochromatism	http://purl.obolibrary.org/obo/HP_0011516	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	biolink:PhenotypicFeature	hp	UMLS:C4023318			http://purl.obolibrary.org/obo/HP_0011517	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	biolink:PhenotypicFeature	hp	UMLS:C4023317			http://purl.obolibrary.org/obo/HP_0011518	Individuals affected by dichromacy possess only two types of cones, instead of three.
HP:0011519	Anomalous trichromacy	biolink:PhenotypicFeature	hp	UMLS:C4023316			http://purl.obolibrary.org/obo/HP_0011519	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	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016		Green-weak|Deuteranomoly	http://purl.obolibrary.org/obo/HP_0011520	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	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:246674000|SNOMEDCT_US:77479002|UMLS:C0155016		Green-blind	http://purl.obolibrary.org/obo/HP_0011521	Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.
HP:0011522	Protanopia	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015		Red-blind	http://purl.obolibrary.org/obo/HP_0011522	Blue and green cones only; no functional red cones.
HP:0011523	Iris cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37761009|UMLS:C0271119			http://purl.obolibrary.org/obo/HP_0011523	An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.
HP:0011524	Iris melanoma	biolink:PhenotypicFeature	hp	NCIT:C3224|SNOMEDCT_US:255012009|UMLS:C0346373			http://purl.obolibrary.org/obo/HP_0011524	Malignant tumor of melanocytes affecting the iris.
HP:0011525	Iris nevus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95711003|UMLS:C0346376		Eye freckle	http://purl.obolibrary.org/obo/HP_0011525	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	biolink:PhenotypicFeature	hp	UMLS:C4023314		Abnormality of lens shape	http://purl.obolibrary.org/obo/HP_0011526	An abnormal shape of the lens.
HP:0011527	Lentiglobus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:419281007|UMLS:C1622439|UMLS:C4280322	hposlim_core	Bulging of eye lens	http://purl.obolibrary.org/obo/HP_0011527	Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.
HP:0011528	Solitary congenital hypertrophy of retinal pigment epithelium	biolink:PhenotypicFeature	hp	UMLS:C4021145		Single isolated CHRPE|Single isolated congenital hypertrophy of retinal pigment epithelium	http://purl.obolibrary.org/obo/HP_0011528	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	biolink:PhenotypicFeature	hp	UMLS:C4021144		Multiple bilateral CHRPE	http://purl.obolibrary.org/obo/HP_0011529	Sharply demarcated hyperpigmentation which is congenital.
HP:0011530	Retinal hole	biolink:PhenotypicFeature	hp	MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|UMLS:C0035321		Retinal holes	http://purl.obolibrary.org/obo/HP_0011530	A small break in the retina.
HP:0011531	Vitritis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95802009|UMLS:C0235812	hposlim_core	Hyalitis|Vitreitis	http://purl.obolibrary.org/obo/HP_0011531	Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.
HP:0011532	Subretinal exudate	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247156002|UMLS:C0423431			http://purl.obolibrary.org/obo/HP_0011532	A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.
HP:0011533	Snowflake vitreoretinal degeneration	biolink:PhenotypicFeature	hp	MSH:C536677|UMLS:C1860405		Snowflake retinal degeneration	http://purl.obolibrary.org/obo/HP_0011533	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	biolink:PhenotypicFeature	hp	UMLS:C4023313			http://purl.obolibrary.org/obo/HP_0011534	Abnormality of the spatial relationship of the cardiac segments to other components of the heart.
HP:0011535	Abnormal atrial arrangement	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445898001|UMLS:C2959688		Abnormal location of heart atrium	http://purl.obolibrary.org/obo/HP_0011535	Abnormality of the spatial relationship of the atria to other components of the heart.
HP:0011536	Right atrial isomerism	biolink:PhenotypicFeature	hp	MSH:D059446|UMLS:C3178806			http://purl.obolibrary.org/obo/HP_0011536	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	biolink:PhenotypicFeature	hp	EPCC:03.01.05|ICD-10:Q20.6|MSH:D059446|UMLS:C3178807			http://purl.obolibrary.org/obo/HP_0011537	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	biolink:PhenotypicFeature	hp	EPCC:03.01.03|Fyler:0150|Fyler:150|ICD-10:Q89.3|UMLS:C4023312			http://purl.obolibrary.org/obo/HP_0011538	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:448681000|UMLS:C3164429		Atrial heterotaxy|Atrial situs ambiguus	http://purl.obolibrary.org/obo/HP_0011539	Common atrium without defining morphologic features.
HP:0011540	Congenitally corrected transposition of the great arteries	biolink:PhenotypicFeature	hp	EPCC:01.01.03|ICD-10:Q20.5|MSH:C535426|SNOMEDCT_US:56743000|SNOMEDCT_US:83799000|UMLS:C0232301|UMLS:C0344616		L-transposition|Ventricular inversion	http://purl.obolibrary.org/obo/HP_0011540	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	biolink:PhenotypicFeature	hp	UMLS:C4023310			http://purl.obolibrary.org/obo/HP_0011541	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	biolink:PhenotypicFeature	hp	UMLS:C4023309			http://purl.obolibrary.org/obo/HP_0011542	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	biolink:PhenotypicFeature	hp	Fyler:0184|Fyler:184|UMLS:C4023308			http://purl.obolibrary.org/obo/HP_0011543	
HP:0011544	L-looping of the right ventricle	biolink:PhenotypicFeature	hp	UMLS:C4023307			http://purl.obolibrary.org/obo/HP_0011544	
HP:0011545	Abnormal connection of the cardiac segments	biolink:PhenotypicFeature	hp	UMLS:C4023306		Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments	http://purl.obolibrary.org/obo/HP_0011545	A deviance in the normal connections between two cardiac segements.
HP:0011546	Abnormal atrioventricular connection	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253274005|UMLS:C0344612		Abnormal atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011546	An abnormality of the circulatory connection between atria and ventricles.
HP:0011547	Absent left sided atrioventricular connection	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253290005|UMLS:C0344629		Absent left sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011547	A defect where there is no connection between the left atrium and left ventricle.
HP:0011548	Absent right sided atrioventricular connection	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253285007|UMLS:C0344624		Absent right sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011548	A defect where there is no connection between the right atrium and right ventricle.
HP:0011549	Univentricular heart with absent left sided atrioventricular connection	biolink:PhenotypicFeature	hp	UMLS:C4023305		Univentricular heart with absent left sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011549	
HP:0011550	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection	biolink:PhenotypicFeature	hp	UMLS:C4023304			http://purl.obolibrary.org/obo/HP_0011550	
HP:0011551	Right sided atrium to left ventricle and absent left sided atrioventricular connection	biolink:PhenotypicFeature	hp	UMLS:C4023303		Right sided atrium to left ventricle and absent left sided atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011551	
HP:0011552	Ambiguous atrioventricular connection	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253278008|UMLS:C0344617		Ambiguous atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011552	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253277003|UMLS:C0344615		Discordant atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011553	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	biolink:PhenotypicFeature	hp	EPCC:01.01.14|ICD-10:Q20.4|UMLS:C4023302		Double inlet atrioventricular connexion	http://purl.obolibrary.org/obo/HP_0011554	The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.
HP:0011555	Double inlet left ventricle	biolink:PhenotypicFeature	hp	EPCC:01.04.04|ICD-10:Q20.4|SNOMEDCT_US:253283000|UMLS:C0344622			http://purl.obolibrary.org/obo/HP_0011555	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	biolink:PhenotypicFeature	hp	EPCC:01.04.03|ICD-10:Q20.4|SNOMEDCT_US:253282005|UMLS:C0344621			http://purl.obolibrary.org/obo/HP_0011556	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	biolink:PhenotypicFeature	hp	UMLS:C4023301			http://purl.obolibrary.org/obo/HP_0011557	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	biolink:PhenotypicFeature	hp	UMLS:C4023300			http://purl.obolibrary.org/obo/HP_0011558	
HP:0011559	Double inlet to single ventricle with two atrioventricular valves	biolink:PhenotypicFeature	hp	UMLS:C4023299			http://purl.obolibrary.org/obo/HP_0011559	
HP:0011560	Mitral atresia	biolink:PhenotypicFeature	hp	EPCC:06.02.01|Fyler:0310|Fyler:310|ICD-10:Q23.2|SNOMEDCT_US:23063005|UMLS:C0344760		Mitral valve atresia	http://purl.obolibrary.org/obo/HP_0011560	A congenital defect with failure to open of the mitral valve orifice.
HP:0011561	Overriding atrioventricular valve	biolink:PhenotypicFeature	hp	UMLS:C4023298			http://purl.obolibrary.org/obo/HP_0011561	An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.
HP:0011562	Straddling atrioventricular valve	biolink:PhenotypicFeature	hp	UMLS:C4023297			http://purl.obolibrary.org/obo/HP_0011562	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	biolink:PhenotypicFeature	hp	UMLS:C4023296		Abnormal ventriculoarterial connexion|Abnormal ventriculo-arterial connection	http://purl.obolibrary.org/obo/HP_0011563	An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.
HP:0011564	Mitral valve arcade	biolink:PhenotypicFeature	hp	UMLS:C4021143		Hammock mitral valve	http://purl.obolibrary.org/obo/HP_0011564	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	biolink:PhenotypicFeature	hp	Fyler:1140|ICD-10:Q21.2|SNOMEDCT_US:253276007|UMLS:C0392482		Single atrium	http://purl.obolibrary.org/obo/HP_0011565	Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
HP:0011566	Cor triatriatum dexter	biolink:PhenotypicFeature	hp	Fyler:2854|SNOMEDCT_US:274947007|UMLS:C0344697		Cor triatriatum dextrum	http://purl.obolibrary.org/obo/HP_0011566	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	biolink:PhenotypicFeature	hp	Fyler:2010|ICD-10:Q21.1|MSH:C548009|SNOMEDCT_US:95268002|UMLS:C0344730			http://purl.obolibrary.org/obo/HP_0011567	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253402005|UMLS:C0344770			http://purl.obolibrary.org/obo/HP_0011568	The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.
HP:0011569	Cleft anterior mitral valve leaflet	biolink:PhenotypicFeature	hp	UMLS:C4023295			http://purl.obolibrary.org/obo/HP_0011569	Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.
HP:0011570	Congenital mitral stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:82458004|UMLS:C0158618			http://purl.obolibrary.org/obo/HP_0011570	Mitral stenosis with congenital onset.
HP:0011571	Parachute mitral valve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204362007|UMLS:C0546965			http://purl.obolibrary.org/obo/HP_0011571	Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.
HP:0011572	Supramitral ring	biolink:PhenotypicFeature	hp	UMLS:C4021142		Membranous supravalvular mitral stenosis|Supravalvular mitral ring	http://purl.obolibrary.org/obo/HP_0011572	A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.
HP:0011573	Hypoplastic tricuspid valve	biolink:PhenotypicFeature	hp	Fyler:1720|UMLS:C4023294		Tricuspid valve hypoplasia|Underdeveloped tricuspid valve	http://purl.obolibrary.org/obo/HP_0011573	Congenital defect characterized by underdevelopment of the tricuspid valve.
HP:0011574	Imperforate atrioventricular valve	biolink:PhenotypicFeature	hp	UMLS:C4023293		Unopened atrioventricular valve	http://purl.obolibrary.org/obo/HP_0011574	An atrioventricular valve that has failed to open (atretic).
HP:0011575	Imperforate tricuspid valve	biolink:PhenotypicFeature	hp	UMLS:C4023292		Unopened tricuspid valve	http://purl.obolibrary.org/obo/HP_0011575	A tricuspid valve that has failed to open.
HP:0011576	Intermediate atrioventricular canal defect	biolink:PhenotypicFeature	hp	Fyler:1121|UMLS:C4023291		Intermediate atrioventricular septal defect	http://purl.obolibrary.org/obo/HP_0011576	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:718216009|UMLS:C4023290			http://purl.obolibrary.org/obo/HP_0011577	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	biolink:PhenotypicFeature	hp	UMLS:C4023289			http://purl.obolibrary.org/obo/HP_0011578	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	biolink:PhenotypicFeature	hp	UMLS:C3280940		Unbalanced atrioventricular septal defect	http://purl.obolibrary.org/obo/HP_0011579	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	biolink:PhenotypicFeature	hp	UMLS:C4023288			http://purl.obolibrary.org/obo/HP_0011580	Abnormally short chordae tendineae of the mitral valve.
HP:0011581	Double outlet left ventricle	biolink:PhenotypicFeature	hp	Fyler:0650|Fyler:650|ICD-10:Q20.2|SNOMEDCT_US:7368005|UMLS:C0265809			http://purl.obolibrary.org/obo/HP_0011581	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	biolink:PhenotypicFeature	hp	UMLS:C4023287			http://purl.obolibrary.org/obo/HP_0011582	Displacement of the heart outside the thoracic cavity and into the abdomen.
HP:0011583	Cervical ectopia cordis	biolink:PhenotypicFeature	hp	UMLS:C4023286			http://purl.obolibrary.org/obo/HP_0011583	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	biolink:PhenotypicFeature	hp	UMLS:C4023285			http://purl.obolibrary.org/obo/HP_0011584	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	biolink:PhenotypicFeature	hp	UMLS:C4023284			http://purl.obolibrary.org/obo/HP_0011585	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	biolink:PhenotypicFeature	hp	UMLS:C4023283			http://purl.obolibrary.org/obo/HP_0011586	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	biolink:PhenotypicFeature	hp	UMLS:C4023282			http://purl.obolibrary.org/obo/HP_0011587	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253657003|UMLS:C0345065			http://purl.obolibrary.org/obo/HP_0011588	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:460890003|UMLS:C3532020|UMLS:C4020746|UMLS:C4021141		Common brachiocephalic trunk|Bovine arch|Ovine arch	http://purl.obolibrary.org/obo/HP_0011589	The left common carotid artery has a common origin with the innominate artery.
HP:0011590	Double aortic arch	biolink:PhenotypicFeature	hp	Fyler:2761|SNOMEDCT_US:10451007|UMLS:C0265883			http://purl.obolibrary.org/obo/HP_0011590	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	biolink:PhenotypicFeature	hp	UMLS:C4023281			http://purl.obolibrary.org/obo/HP_0011591	
HP:0011592	Left aortic arch with isolated subclavian artery	biolink:PhenotypicFeature	hp	UMLS:C4023280			http://purl.obolibrary.org/obo/HP_0011592	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:74561007|UMLS:C0265885		Kommerell diverticulum	http://purl.obolibrary.org/obo/HP_0011593	A patent ductus arteriosus or ductal ligament completes the ring.
HP:0011594	Right aortic arch with retroesophageal diverticulum of Kommerell	biolink:PhenotypicFeature	hp	UMLS:C4023279			http://purl.obolibrary.org/obo/HP_0011594	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	biolink:PhenotypicFeature	hp	UMLS:C4023278			http://purl.obolibrary.org/obo/HP_0011595	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	biolink:PhenotypicFeature	hp	UMLS:C4023277			http://purl.obolibrary.org/obo/HP_0011596	The ring may be completed by the ductal ligament.
HP:0011597	Right aortic arch with left descending aorta and left ductus arteriosus	biolink:PhenotypicFeature	hp	UMLS:C4023276			http://purl.obolibrary.org/obo/HP_0011597	
HP:0011598	Right aortic arch with retroesophageal left subclavian artery	biolink:PhenotypicFeature	hp	UMLS:C4021140		Right aortic arch with aberrant left subclavian artery|Right aortic arch with anomalous left subclavian artery	http://purl.obolibrary.org/obo/HP_0011598	
HP:0011599	Mesocardia	biolink:PhenotypicFeature	hp	Fyler:0140|Fyler:140|SNOMEDCT_US:16567006|UMLS:C0265865			http://purl.obolibrary.org/obo/HP_0011599	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	biolink:PhenotypicFeature	hp	UMLS:C4023275			http://purl.obolibrary.org/obo/HP_0011600	Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.
HP:0011601	Rightward direction of ventricular apex	biolink:PhenotypicFeature	hp	UMLS:C4023274			http://purl.obolibrary.org/obo/HP_0011601	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	biolink:PhenotypicFeature	hp	UMLS:C4023273			http://purl.obolibrary.org/obo/HP_0011602	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	biolink:PhenotypicFeature	hp	UMLS:C0478012			http://purl.obolibrary.org/obo/HP_0011603	Defect or defects of the morphogenesis of the aorta and pulmonary arteries.
HP:0011604	Aortopulmonary window	biolink:PhenotypicFeature	hp	Fyler:0560|Fyler:560|MSH:D001028|SNOMEDCT_US:17024001|UMLS:C0003516			http://purl.obolibrary.org/obo/HP_0011604	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	biolink:PhenotypicFeature	hp	UMLS:C4023272			http://purl.obolibrary.org/obo/HP_0011605	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:0011606	obsolete Transposition of the great arteries with intact ventricular septum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011606	
HP:0011607	obsolete Transposition of the great arteries with ventricular septal defect	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011607	
HP:0011608	Type II truncus arteriosus	biolink:PhenotypicFeature	hp	Fyler:0520|Fyler:520|UMLS:C4021137		Persistent truncus arteriosus type II|Type 2 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011608	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	biolink:PhenotypicFeature	hp	Fyler:0530|Fyler:530|UMLS:C4021136		Persistent truncus arteriosus type III|Type 3 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011609	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	biolink:PhenotypicFeature	hp	Fyler:0540|Fyler:540|UMLS:C4021135		Persistent truncus arteriosus type IV|Type 4 truncus arteriosus	http://purl.obolibrary.org/obo/HP_0011610	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	biolink:PhenotypicFeature	hp	Fyler:1241|Fyler:1250|SNOMEDCT_US:218728005|UMLS:C0152419		Atretic transverse aortic arch|Aortic arch obstruction	http://purl.obolibrary.org/obo/HP_0011611	Non-continuity of the arch of aorta with an atretic point or absent segment.
HP:0011612	Interrupted aortic arch type A	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253681005|UMLS:C0345092			http://purl.obolibrary.org/obo/HP_0011612	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	biolink:PhenotypicFeature	hp	Fyler:1252|SNOMEDCT_US:253682003|UMLS:C0345093		Interrupted aortic arch, type b	http://purl.obolibrary.org/obo/HP_0011613	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253683008|UMLS:C0345094			http://purl.obolibrary.org/obo/HP_0011614	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	biolink:PhenotypicFeature	hp	UMLS:C4023271		Abnormality of pulmonary situs	http://purl.obolibrary.org/obo/HP_0011615	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	biolink:PhenotypicFeature	hp	UMLS:C4023270			http://purl.obolibrary.org/obo/HP_0011616	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	biolink:PhenotypicFeature	hp	UMLS:C4023269			http://purl.obolibrary.org/obo/HP_0011617	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	biolink:PhenotypicFeature	hp	UMLS:C4023268			http://purl.obolibrary.org/obo/HP_0011618	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	biolink:PhenotypicFeature	hp	UMLS:C4023267			http://purl.obolibrary.org/obo/HP_0011619	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	biolink:PhenotypicFeature	hp	UMLS:C4023266			http://purl.obolibrary.org/obo/HP_0011620	An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.
HP:0011621	Gerbode ventricular septal defect	biolink:PhenotypicFeature	hp	SNOMEDCT_US:41893002|UMLS:C0265812|UMLS:C4023265		Left ventricular - right atrial communication	http://purl.obolibrary.org/obo/HP_0011621	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	biolink:PhenotypicFeature	hp	Fyler:1340		Atrioventricular canal type ventricular septal defect|Type 3 ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011622	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	biolink:PhenotypicFeature	hp	Fyler:1320|SNOMEDCT_US:94706008|UMLS:C0685707		Type 4 ventricular septal defect|Ventricular septal defect, muscular	http://purl.obolibrary.org/obo/HP_0011623	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	biolink:PhenotypicFeature	hp	UMLS:C4023264			http://purl.obolibrary.org/obo/HP_0011624	A muscular ventricular septal defect located at the apex of the heart.
HP:0011625	Multiple muscular ventricular septal defects	biolink:PhenotypicFeature	hp	UMLS:C4023263		Swiss cheese ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011625	A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.
HP:0011626	Scimitar anomaly	biolink:PhenotypicFeature	hp	ICD-10:Q26.8|MSH:D012587|SNOMEDCT_US:111323005|SNOMEDCT_US:39905002|UMLS:C0036400		Pulmonary venolobar syndrome|Scimitar syndrome	http://purl.obolibrary.org/obo/HP_0011626	Right pulmonary venous return to the inferior vena cava.
HP:0011627	Aorto-ventricular tunnel	biolink:PhenotypicFeature	hp	UMLS:C4023262			http://purl.obolibrary.org/obo/HP_0011627	Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle.
HP:0011628	Congenital defect of the pericardium	biolink:PhenotypicFeature	hp	UMLS:C4023261			http://purl.obolibrary.org/obo/HP_0011628	A developmental defect of the pericardium with congenital onset.
HP:0011629	Total absence of the pericardium	biolink:PhenotypicFeature	hp	Fyler:1910|SNOMEDCT_US:253732001|UMLS:C0345140		Absent pericardium|Congenital absence of the pericardium	http://purl.obolibrary.org/obo/HP_0011629	No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.
HP:0011630	Complete diaphragmatic absence of pericardium	biolink:PhenotypicFeature	hp	UMLS:C4023259			http://purl.obolibrary.org/obo/HP_0011630	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	biolink:PhenotypicFeature	hp	UMLS:C4023258			http://purl.obolibrary.org/obo/HP_0011631	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	biolink:PhenotypicFeature	hp	UMLS:C4023257			http://purl.obolibrary.org/obo/HP_0011632	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	biolink:PhenotypicFeature	hp	UMLS:C4023256		Absent lining around of left side of heart	http://purl.obolibrary.org/obo/HP_0011633	A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.
HP:0011634	Partial left sided absence of pericardium	biolink:PhenotypicFeature	hp	UMLS:C4023255			http://purl.obolibrary.org/obo/HP_0011634	A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.
HP:0011635	Partial diaphragmatic absence of pericardium	biolink:PhenotypicFeature	hp	UMLS:C4023254			http://purl.obolibrary.org/obo/HP_0011635	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	biolink:PhenotypicFeature	hp	UMLS:C4023253			http://purl.obolibrary.org/obo/HP_0011636	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	biolink:PhenotypicFeature	hp	UMLS:C4023252			http://purl.obolibrary.org/obo/HP_0011637	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	biolink:PhenotypicFeature	hp	Fyler:3101|SNOMEDCT_US:450301003|UMLS:C3472166		ALCAPA|Anomalous left coronary artery from the pulmonary artery|Bland-Garland-White syndrome	http://purl.obolibrary.org/obo/HP_0011638	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:450300002|UMLS:C3472165			http://purl.obolibrary.org/obo/HP_0011639	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	biolink:PhenotypicFeature	hp	UMLS:C4023251			http://purl.obolibrary.org/obo/HP_0011640	The presence of a single coronary artery ostium from which both coronary arteries arise.
HP:0011641	Coronary artery fistula	biolink:PhenotypicFeature	hp	Fyler:2230|SNOMEDCT_US:373093003|UMLS:C0265898		Coronary fistula	http://purl.obolibrary.org/obo/HP_0011641	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	biolink:PhenotypicFeature	hp	Fyler:2840|SNOMEDCT_US:253323000|UMLS:C0344680		Abnormality of the coronary sinus	http://purl.obolibrary.org/obo/HP_0011642	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	biolink:PhenotypicFeature	hp	ICD-10:Q21.1|UMLS:C2063331			http://purl.obolibrary.org/obo/HP_0011643	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:447661004|UMLS:C3163894		Diverticulum of the coronary sinus	http://purl.obolibrary.org/obo/HP_0011644	A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.
HP:0011645	Dilatation of the sinus of Valsalva	biolink:PhenotypicFeature	hp	Fyler:2316|SNOMEDCT_US:54160000|UMLS:C2239253		Aortic sinus aneurysm|Aneurysm of the aortic sinus|Sinus of Valsalva aneurysm	http://purl.obolibrary.org/obo/HP_0011645	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	biolink:PhenotypicFeature	hp	UMLS:C4023250			http://purl.obolibrary.org/obo/HP_0011646	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:72242008|UMLS:C0265879		Postductal aortic coarctation	http://purl.obolibrary.org/obo/HP_0011647	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	biolink:PhenotypicFeature	hp	UMLS:C4023249			http://purl.obolibrary.org/obo/HP_0011648	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	biolink:PhenotypicFeature	hp	UMLS:C4023248			http://purl.obolibrary.org/obo/HP_0011649	Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.
HP:0011650	Bilateral ductus arteriosus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:461093009|UMLS:C0431501		Bilateral ductus botalli	http://purl.obolibrary.org/obo/HP_0011650	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:448516008|UMLS:C3165091		DORV with doubly committed VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011651	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 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	biolink:PhenotypicFeature	hp	Fyler:0604|Fyler:604|UMLS:C4023247		DORV with doubly committed VSD|Double outlet right ventricle, doubly committed ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011652	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	biolink:PhenotypicFeature	hp	UMLS:C4023246		DORV with non-committed VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011653	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	biolink:PhenotypicFeature	hp	Fyler:0603|Fyler:603|UMLS:C4023245		DORV with non-committed VSD without pulmonary stenosis|Double outlet right ventricle, noncommitted ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011654	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	biolink:PhenotypicFeature	hp	UMLS:C4023244		DORV with subaortic VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011655	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	biolink:PhenotypicFeature	hp	UMLS:C4023243		DORV with subaortic VSD without pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011656	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	biolink:PhenotypicFeature	hp	UMLS:C4023242		DORV with subpulmonary VSD and pulmonary stenosis	http://purl.obolibrary.org/obo/HP_0011657	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	biolink:PhenotypicFeature	hp	UMLS:C4023241		DORV with subpulmonary VSD without pulmonary stenosis|Taussig-Bing anomaly	http://purl.obolibrary.org/obo/HP_0011658	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:399228007|UMLS:C1302264		Tetralogy of Fallot with absent pulmonary valve syndrome	http://purl.obolibrary.org/obo/HP_0011659	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	biolink:PhenotypicFeature	hp	Fyler:0550|Fyler:550|UMLS:C4021134		Hemitruncus	http://purl.obolibrary.org/obo/HP_0011660	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253637002|UMLS:C0345040			http://purl.obolibrary.org/obo/HP_0011661	The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.
HP:0011662	Tricuspid atresia	biolink:PhenotypicFeature	hp	EPCC:06.01.01|Fyler:0400|Fyler:400|ICD-10:Q22.4|MSH:D018785|SNOMEDCT_US:253455004|SNOMEDCT_US:63042009|UMLS:C0243002		Tricuspid valve atresia	http://purl.obolibrary.org/obo/HP_0011662	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	biolink:PhenotypicFeature	hp	UMLS:C2063326		Cardiomyopathy, right ventricular|Cardiomyopathy, esp. right ventricular	http://purl.obolibrary.org/obo/HP_0011663	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	biolink:PhenotypicFeature	hp	UMLS:C4021133		Left ventricular non-compaction cardiomyopathy	http://purl.obolibrary.org/obo/HP_0011664	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	biolink:PhenotypicFeature	hp	MSH:D054549|SNOMEDCT_US:441541008|UMLS:C1739395		Broken-heart syndrome	http://purl.obolibrary.org/obo/HP_0011665	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253308005|UMLS:C0344656			http://purl.obolibrary.org/obo/HP_0011666	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	biolink:PhenotypicFeature	hp	UMLS:C4023240			http://purl.obolibrary.org/obo/HP_0011667	
HP:0011668	Bilateral superior vena cava with no bridging vein	biolink:PhenotypicFeature	hp	UMLS:C4023239			http://purl.obolibrary.org/obo/HP_0011668	
HP:0011669	Left superior vena cava draining directly to the left atrium	biolink:PhenotypicFeature	hp	UMLS:C4023238			http://purl.obolibrary.org/obo/HP_0011669	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	biolink:PhenotypicFeature	hp	ICD-10:Q26.1|UMLS:C2677768			http://purl.obolibrary.org/obo/HP_0011670	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	biolink:PhenotypicFeature	hp	ICD-10:26.8|UMLS:C4023237			http://purl.obolibrary.org/obo/HP_0011671	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	biolink:PhenotypicFeature	hp	NCIT:C6577|SNOMEDCT_US:426191007|UMLS:C1960546			http://purl.obolibrary.org/obo/HP_0011672	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 origina and general project from the endocardium into a cardiac chamber.
HP:0011673	Cardiac hemangioma	biolink:PhenotypicFeature	hp	NCIT:C3085|UMLS:C1707298			http://purl.obolibrary.org/obo/HP_0011673	Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.
HP:0011674	Cardiac teratoma	biolink:PhenotypicFeature	hp	NCIT:C3403|UMLS:C1112387			http://purl.obolibrary.org/obo/HP_0011674	A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour 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	biolink:PhenotypicFeature	hp	MSH:C562490|MSH:D001145|SNOMEDCT_US:102594003|SNOMEDCT_US:44808001|SNOMEDCT_US:698247007|UMLS:C0003811|UMLS:C0264886|UMLS:C0522055|UMLS:C0855329|UMLS:C1832603|UMLS:C1842820		Abnormal heart rate|Heart rhythm disorders|Irregular heart beat|Irregular heartbeat|Arrhythmias|Cardiac arrhythmia|Cardiac arrhythmias|Cardiac rhythm disturbances	http://purl.obolibrary.org/obo/HP_0011675	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	biolink:PhenotypicFeature	hp	UMLS:C4023236			http://purl.obolibrary.org/obo/HP_0011676	
HP:0011677	Tetralogy of Fallot with atrioventricular canal defect	biolink:PhenotypicFeature	hp	UMLS:C4023235			http://purl.obolibrary.org/obo/HP_0011677	
HP:0011678	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	biolink:PhenotypicFeature	hp	UMLS:C4023234			http://purl.obolibrary.org/obo/HP_0011678	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253512000|UMLS:C0344881			http://purl.obolibrary.org/obo/HP_0011679	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	biolink:PhenotypicFeature	hp	UMLS:C4023233			http://purl.obolibrary.org/obo/HP_0011680	
HP:0011681	Subarterial ventricular septal defect	biolink:PhenotypicFeature	hp	Fyler:1330|SNOMEDCT_US:448876006|UMLS:C3165130		Conal ventricular septal defect|Doubly committed ventricular septal defect|Infundibular ventricular septal defect|Supracristal ventricular septal defect|Type 1 ventricular septal defect	http://purl.obolibrary.org/obo/HP_0011681	A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.
HP:0011682	Perimembranous ventricular septal defect	biolink:PhenotypicFeature	hp	Fyler:1310|SNOMEDCT_US:109428005|UMLS:C0344925		Conoventricular ventricular septal defect|Membranous ventricular septal defect|Paramembranous ventricular septal defect|Perimembraneous ventricular septal defect|Type 2 ventricular septal defect|Ventricular septal defect, perimembranous	http://purl.obolibrary.org/obo/HP_0011682	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253551005|UMLS:C0344924			http://purl.obolibrary.org/obo/HP_0011683	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:373131000|UMLS:C1298817			http://purl.obolibrary.org/obo/HP_0011684	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	biolink:PhenotypicFeature	hp	UMLS:C4023232			http://purl.obolibrary.org/obo/HP_0011685	The superior vena cava passes below the aortic arch.
HP:0011686	Abnormal coronary artery course	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253714001|UMLS:C0345122		Anomalous coronary artery course	http://purl.obolibrary.org/obo/HP_0011686	An abnormal path of a coronary artery.
HP:0011687	AV nodal tachycardia	biolink:PhenotypicFeature	hp	UMLS:C0857265		AV nodal tachycardia|Atrioventricular nodal tachycardia	http://purl.obolibrary.org/obo/HP_0011687	A type of supraventricular tachycardia that originates in the atrioventricular node.
HP:0011688	Supraventricular tachycardia with an accessory connection mediated pathway	biolink:PhenotypicFeature	hp	UMLS:C4021132		Supraventricular tachycardia with an accessory connexion mediated pathway|Atrioventricular re-entry tachycardia	http://purl.obolibrary.org/obo/HP_0011688	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	biolink:PhenotypicFeature	hp	UMLS:C4023231		Supraventricular tachycardia with a concealed accessory connexion	http://purl.obolibrary.org/obo/HP_0011689	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:233904005|UMLS:C0340483			http://purl.obolibrary.org/obo/HP_0011690	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	biolink:PhenotypicFeature	hp	UMLS:C4023230			http://purl.obolibrary.org/obo/HP_0011691	
HP:0011692	Supraventricular tachycardia with a concealed accessory pathway on the right free wall	biolink:PhenotypicFeature	hp	UMLS:C4023229			http://purl.obolibrary.org/obo/HP_0011692	
HP:0011693	Supraventricular tachycardia with a concealed accessory pathway on the septum	biolink:PhenotypicFeature	hp	UMLS:C4023228			http://purl.obolibrary.org/obo/HP_0011693	
HP:0011694	Supraventricular tachycardia with a manifest accessory pathway	biolink:PhenotypicFeature	hp	UMLS:C4023227			http://purl.obolibrary.org/obo/HP_0011694	
HP:0011695	Cerebellar hemorrhage	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75038005|UMLS:C0149854		Cerebellar haemorrhage	http://purl.obolibrary.org/obo/HP_0011695	Hemorrhage into the parenchyma of the cerebellum.
HP:0011696	Supraventricular tachycardia with a manifest accessory pathway on the left free wall	biolink:PhenotypicFeature	hp	UMLS:C4023226			http://purl.obolibrary.org/obo/HP_0011696	
HP:0011697	Supraventricular tachycardia with a manifest accessory pathway on the right free wall	biolink:PhenotypicFeature	hp	UMLS:C4023225			http://purl.obolibrary.org/obo/HP_0011697	
HP:0011698	Supraventricular tachycardia with a manifest accessory pathway on the septum	biolink:PhenotypicFeature	hp	UMLS:C4023224			http://purl.obolibrary.org/obo/HP_0011698	
HP:0011699	Atrial reentry tachycardia	biolink:PhenotypicFeature	hp	UMLS:C4023223			http://purl.obolibrary.org/obo/HP_0011699	
HP:0011700	Automatic atrial tachycardia	biolink:PhenotypicFeature	hp	MSH:D013612|SNOMEDCT_US:233892002|UMLS:C0039234			http://purl.obolibrary.org/obo/HP_0011700	Chronic supraventricular tachycardia predominantly seen in childhood.
HP:0011701	Multifocal atrial tachycardia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49982000|UMLS:C0221158		Chaotic atrial tachycardia|Ectopic atrial tachycardia	http://purl.obolibrary.org/obo/HP_0011701	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	biolink:PhenotypicFeature	hp	Fyler:7010|UMLS:C4023222			http://purl.obolibrary.org/obo/HP_0011702	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	biolink:PhenotypicFeature	hp	MSH:D013616|SNOMEDCT_US:11092001|UMLS:C0039239		Sinus tach|Sinus tachy	http://purl.obolibrary.org/obo/HP_0011703	Heart rate of greater than 100 beats per minute.
HP:0011704	Sick sinus syndrome	biolink:PhenotypicFeature	hp	MSH:D012804|SNOMEDCT_US:36083008|UMLS:C0037052		Sinoatrial node disease	http://purl.obolibrary.org/obo/HP_0011704	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:270492004|UMLS:C0085614			http://purl.obolibrary.org/obo/HP_0011705	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195042002|UMLS:C0264906			http://purl.obolibrary.org/obo/HP_0011706	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:54016002|UMLS:C0264907		Mobitz type 1 atrioventricular block|Wenckebach block	http://purl.obolibrary.org/obo/HP_0011707	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28189009|UMLS:C0155700		Mobitz type 2 atrioventricular block	http://purl.obolibrary.org/obo/HP_0011708	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	biolink:PhenotypicFeature	hp	MSH:D006327|SNOMEDCT_US:50799005|UMLS:C0004331			http://purl.obolibrary.org/obo/HP_0011709	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	biolink:PhenotypicFeature	hp	MSH:D002037|SNOMEDCT_US:6374002|UMLS:C0006384		Bundle-branch block	http://purl.obolibrary.org/obo/HP_0011710	Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.
HP:0011711	Left anterior fascicular block	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37760005|UMLS:C0264912		Left anterior hemiblock	http://purl.obolibrary.org/obo/HP_0011711	Conduction block in the anterior division of the left bundle branch of the bundle of His.
HP:0011712	Right bundle branch block	biolink:PhenotypicFeature	hp	MSH:D002037|SNOMEDCT_US:59118001|UMLS:C0085615		Right bundle-branch block	http://purl.obolibrary.org/obo/HP_0011712	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	biolink:PhenotypicFeature	hp	MSH:D002037|SNOMEDCT_US:63467002|UMLS:C0023211			http://purl.obolibrary.org/obo/HP_0011713	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	biolink:PhenotypicFeature	hp	UMLS:C4023221			http://purl.obolibrary.org/obo/HP_0011714	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86014007|UMLS:C0155707			http://purl.obolibrary.org/obo/HP_0011715	Abnormal conduction in all three divisions of the intraventricular conducting tissue.
HP:0011716	Junctional ectopic tachycardia	biolink:PhenotypicFeature	hp	MSH:D013613|SNOMEDCT_US:233901002|SNOMEDCT_US:419166005|UMLS:C0039235			http://purl.obolibrary.org/obo/HP_0011716	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	biolink:PhenotypicFeature	hp	UMLS:C4023220		AV nodal reentry tachycardia	http://purl.obolibrary.org/obo/HP_0011717	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111322000|SNOMEDCT_US:128585006|SNOMEDCT_US:199113001|UMLS:C0265914		Abnormality of lung veins	http://purl.obolibrary.org/obo/HP_0011718	An abnormality of the pulmonary veins.
HP:0011719	Supracardiac total anomalous pulmonary venous connection	biolink:PhenotypicFeature	hp	Fyler:0910|Fyler:910|UMLS:C4021131		Supracardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, supracardiac|Type 1 total anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0011719	Type 1 total anomalous pulmonary venous connection.
HP:0011720	Cardiac total anomalous pulmonary venous connection	biolink:PhenotypicFeature	hp	Fyler:0920|Fyler:0930|Fyler:920|Fyler:930|UMLS:C4021130		Cardiac total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, intracardiac|Type 2 total anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0011720	Type 2 total anomalous pulmonary venous connection.
HP:0011721	Infracardiac total anomalous pulmonary venous connection	biolink:PhenotypicFeature	hp	UMLS:C4021129		Infracardiac total anomalous pulmonary venous connexion|Type 3 total anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0011721	Type 3 total anomalous pulmonary venous connection.
HP:0011722	Mixed total anomalous pulmonary venous connection	biolink:PhenotypicFeature	hp	Fyler:0950|Fyler:950|UMLS:C4021128		Mixed total anomalous pulmonary venous connexion|Total anomalous pulmonary venous connection, mixed|Type 4 total anomalous pulmonary venous connection	http://purl.obolibrary.org/obo/HP_0011722	Type 4 total anomalous pulmonary venous connection.
HP:0011723	Congenital malformation of the right heart	biolink:PhenotypicFeature	hp	UMLS:C4023219			http://purl.obolibrary.org/obo/HP_0011723	Defect or defects of the morphogenesis of the right heart identifiable at birth.
HP:0011724	Uhl's anomaly	biolink:PhenotypicFeature	hp	MSH:C536932|SNOMEDCT_US:2829000|UMLS:C0265857			http://purl.obolibrary.org/obo/HP_0011724	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	biolink:PhenotypicFeature	hp	UMLS:C4023218			http://purl.obolibrary.org/obo/HP_0011725	
HP:0011726	Persistent fetal circulation	biolink:PhenotypicFeature	hp	MSH:D010547|SNOMEDCT_US:206597007|SNOMEDCT_US:233815004|SNOMEDCT_US:35604006|UMLS:C0031190		Persistent foetal circulation	http://purl.obolibrary.org/obo/HP_0011726	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	biolink:PhenotypicFeature	hp	UMLS:C0240733		Fibularis muscle weakness	http://purl.obolibrary.org/obo/HP_0011727	Weakness of the peroneal muscles.
HP:0011728	Elbow clonus	biolink:PhenotypicFeature	hp	UMLS:C4023217			http://purl.obolibrary.org/obo/HP_0011728	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	biolink:PhenotypicFeature	hp	UMLS:C4023216			http://purl.obolibrary.org/obo/HP_0011729	An abnormality in the range and ease of motion of joints across their normal range.
HP:0011730	Abnormal central sensory function	biolink:PhenotypicFeature	hp	UMLS:C4023215		Abnormality of central sensory function	http://purl.obolibrary.org/obo/HP_0011730	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	biolink:PhenotypicFeature	hp	UMLS:C4023214			http://purl.obolibrary.org/obo/HP_0011731	An abnormality of the concentration of cortisol in the blood.
HP:0011732	Abnormality of adrenal morphology	biolink:PhenotypicFeature	hp	UMLS:C4023213			http://purl.obolibrary.org/obo/HP_0011732	Any structural anomaly of the adrenal glands.
HP:0011733	Abnormality of adrenal physiology	biolink:PhenotypicFeature	hp	UMLS:C4023212			http://purl.obolibrary.org/obo/HP_0011733	A functional abnormality of the adrenal glands.
HP:0011734	Central adrenal insufficiency	biolink:PhenotypicFeature	hp	UMLS:C0948387		Secondary adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011734	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	biolink:PhenotypicFeature	hp	UMLS:C4023211		ACTH deficient adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011735	Adrenal insufficiency secondary to a defect in ACTH production.
HP:0011736	Primary hyperaldosteronism	biolink:PhenotypicFeature	hp	MSH:D006929|SNOMEDCT_US:190507007|SNOMEDCT_US:258117004|UMLS:C1384514			http://purl.obolibrary.org/obo/HP_0011736	A form of hyperaldosteronism caused by a defect within the adrenal gland.
HP:0011737	Corticotropin-releasing hormone deficient adrenal insufficiency	biolink:PhenotypicFeature	hp	UMLS:C4021127		CRH deficient adrenal insufficiency|Tertiary adrenal insufficiency	http://purl.obolibrary.org/obo/HP_0011737	Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.
HP:0011738	Corticotropin-releasing hormone receptor defect	biolink:PhenotypicFeature	hp	UMLS:C4020745|UMLS:C4023210		CRHR defect|Corticotropin-releasing hormone receptor (CRHR) resistance	http://purl.obolibrary.org/obo/HP_0011738	Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.
HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	biolink:PhenotypicFeature	hp	UMLS:C4020743|UMLS:C4020744|UMLS:C4023209		Familial primary hyperaldosteronism type 1|Glucocorticoid-remediable familial primary aldosteronism	http://purl.obolibrary.org/obo/HP_0011739	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	biolink:PhenotypicFeature	hp	UMLS:C4020742|UMLS:C4023208		Familial primary hyperaldosteronism type 2	http://purl.obolibrary.org/obo/HP_0011740	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:67805000|UMLS:C0271728		Hyperreninemic hyperaldosteronism	http://purl.obolibrary.org/obo/HP_0011741	A form of hyperaldosteronism caused by abnormally increased renin levels.
HP:0011742	Ectopic adrenal gland	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49494003|UMLS:C0266275		Abnormal adrenal gland position	http://purl.obolibrary.org/obo/HP_0011742	Abnormal anatomical location of the adrenal gland.
HP:0011743	Adrenal gland agenesis	biolink:PhenotypicFeature	hp	MSH:C538429|SNOMEDCT_US:702615004|SNOMEDCT_US:83190008|UMLS:C0266273			http://purl.obolibrary.org/obo/HP_0011743	Absent development of the adrenal gland.
HP:0011744	Secondary hypercortisolism	biolink:PhenotypicFeature	hp	UMLS:C4020741|UMLS:C4023207		ACTH-dependent hypercortisolemia	http://purl.obolibrary.org/obo/HP_0011744	Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.
HP:0011745	Non-secretory adrenocortical adenoma	biolink:PhenotypicFeature	hp	UMLS:C4021126		Non-secretory adrenal adenoma	http://purl.obolibrary.org/obo/HP_0011745	An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.
HP:0011746	Secretory adrenocortical adenoma	biolink:PhenotypicFeature	hp	UMLS:C4021125		Secretory adrenal adenoma	http://purl.obolibrary.org/obo/HP_0011746	An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.
HP:0011747	Abnormality of the anterior pituitary	biolink:PhenotypicFeature	hp	MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002|UMLS:C4023206		Pituitary disease	http://purl.obolibrary.org/obo/HP_0011747	An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
HP:0011748	Adrenocorticotropic hormone deficiency	biolink:PhenotypicFeature	hp	MSH:C535668|SNOMEDCT_US:237692001|UMLS:C0342388		ACTH deficiency|Corticotropin deficiency	http://purl.obolibrary.org/obo/HP_0011748	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	biolink:PhenotypicFeature	hp	UMLS:C4021124		ACTH excess	http://purl.obolibrary.org/obo/HP_0011749	Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.
HP:0011750	Neoplasm of the anterior pituitary	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4023205		Neoplasm of the adenohypophysis|Neoplasm of the pars anterior	http://purl.obolibrary.org/obo/HP_0011750	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	biolink:PhenotypicFeature	hp	UMLS:C4023204		Abnormality of the neurohypophysis	http://purl.obolibrary.org/obo/HP_0011751	An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
HP:0011752	Neoplasm of the posterior pituitary	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C1334957		Neoplasm of the neurohypophysis	http://purl.obolibrary.org/obo/HP_0011752	The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
HP:0011753	Posterior pituitary dysgenesis	biolink:PhenotypicFeature	hp	UMLS:C4021123		Neurohypophysis dysplasia|Posterior pituitary dysplasia	http://purl.obolibrary.org/obo/HP_0011753	Abnormal development of the neurohypophysis during embryonic growth and development.
HP:0011754	Pituicytoma	biolink:PhenotypicFeature	hp	ICD-O:9432/1|SNOMEDCT_US:450901008|SNOMEDCT_US:608817003|UMLS:C2986550			http://purl.obolibrary.org/obo/HP_0011754	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:715727009|UMLS:C3279571|UMLS:C4053775		Ectopic neurohypophysis	http://purl.obolibrary.org/obo/HP_0011755	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	biolink:PhenotypicFeature	hp	UMLS:C4023203		Neurohypophysis agenesis	http://purl.obolibrary.org/obo/HP_0011756	Absence of the neurohypophysis owing to a developmental defect.
HP:0011757	Posterior pituitary hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4023202		Neurohypophysis hypoplasia	http://purl.obolibrary.org/obo/HP_0011757	Underdevelopment of the neurohypophysis.
HP:0011758	Pituitary acidophilic stem cell adenoma	biolink:PhenotypicFeature	hp	UMLS:C4023201			http://purl.obolibrary.org/obo/HP_0011758	
HP:0011759	Pituitary gonadotropic cell adenoma	biolink:PhenotypicFeature	hp	UMLS:C4021122		Pituitary gonadotropinoma	http://purl.obolibrary.org/obo/HP_0011759	A type of pituitary adenoma that produces gonadotropins.
HP:0011760	Pituitary growth hormone cell adenoma	biolink:PhenotypicFeature	hp	UMLS:C4018860		Pituitary somatotropinoma	http://purl.obolibrary.org/obo/HP_0011760	A type of pituitary adenoma that produces growth hormone.
HP:0011761	Pituitary null cell adenoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254962005|UMLS:C0338078		Clinically silent pituitary adenoma|Hormonally silent pituitary adenoma|Non-functional pituitary adenoma|Silent pituitary adenoma	http://purl.obolibrary.org/obo/HP_0011761	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	biolink:PhenotypicFeature	hp	UMLS:C4021121		Pituitary thyrotropinoma	http://purl.obolibrary.org/obo/HP_0011762	A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).
HP:0011763	Pituitary carcinoma	biolink:PhenotypicFeature	hp	MSH:D010911|SNOMEDCT_US:128665000|SNOMEDCT_US:254955001|UMLS:C0346300			http://purl.obolibrary.org/obo/HP_0011763	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	biolink:PhenotypicFeature	hp	UMLS:C4023200			http://purl.obolibrary.org/obo/HP_0011764	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:0011765	obsolete Ectopic anterior pituitary	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0011765	
HP:0011766	Abnormality of the parathyroid morphology	biolink:PhenotypicFeature	hp	UMLS:C4023199			http://purl.obolibrary.org/obo/HP_0011766	A structural abnormality of the parathyroid gland.
HP:0011767	Abnormality of the parathyroid physiology	biolink:PhenotypicFeature	hp	UMLS:C4023198		Parathyroid issue|Parathyroid dysfunction	http://purl.obolibrary.org/obo/HP_0011767	A functional abnormality of the parathyroid gland.
HP:0011768	Parathyroid dysgenesis	biolink:PhenotypicFeature	hp	UMLS:C4023197			http://purl.obolibrary.org/obo/HP_0011768	Abnormal embryonic development of the parathyroid gland.
HP:0011769	Ectopic parathyroid	biolink:PhenotypicFeature	hp	UMLS:C4023196			http://purl.obolibrary.org/obo/HP_0011769	An abnormal anatomical location of the parathyroid gland.
HP:0011770	Tertiary hyperparathyroidism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78200003|UMLS:C0271858			http://purl.obolibrary.org/obo/HP_0011770	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75316000|UMLS:C0271865			http://purl.obolibrary.org/obo/HP_0011771	A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.
HP:0011772	Abnormal thyroid morphology	biolink:PhenotypicFeature	hp	UMLS:C4023195		Abnormal shape of thyroid gland|Abnormality of thyroid morphology	http://purl.obolibrary.org/obo/HP_0011772	A structural abnormality of the thyroid gland.
HP:0011773	Uninodular goiter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237569006|UMLS:C0342205		Uninodular goitre	http://purl.obolibrary.org/obo/HP_0011773	Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.
HP:0011774	Thyroid follicular adenoma	biolink:PhenotypicFeature	hp	MSH:D013964|SNOMEDCT_US:255033000|SNOMEDCT_US:255034006|UMLS:C0151468			http://purl.obolibrary.org/obo/HP_0011774	
HP:0011775	Thyroid macrofollicular adenoma	biolink:PhenotypicFeature	hp	UMLS:C4023194			http://purl.obolibrary.org/obo/HP_0011775	
HP:0011776	Thyroid microfollicular adenoma	biolink:PhenotypicFeature	hp	UMLS:C4023193			http://purl.obolibrary.org/obo/HP_0011776	
HP:0011777	Thyroid papillary adenoma	biolink:PhenotypicFeature	hp	UMLS:C4023192			http://purl.obolibrary.org/obo/HP_0011777	
HP:0011778	Thyroid atypical adenoma	biolink:PhenotypicFeature	hp	UMLS:C4023191			http://purl.obolibrary.org/obo/HP_0011778	
HP:0011779	Anaplastic thyroid carcinoma	biolink:PhenotypicFeature	hp	MSH:D065646|SNOMEDCT_US:255031003|UMLS:C0238461			http://purl.obolibrary.org/obo/HP_0011779	
HP:0011780	Thyroid hemiagenesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:715734006|UMLS:C4023190			http://purl.obolibrary.org/obo/HP_0011780	Absence of a lobe of the thyroid gland related to a failure of its embryologic development.
HP:0011781	Thyroid C cell hyperplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237552009|UMLS:C0342190			http://purl.obolibrary.org/obo/HP_0011781	An abnormal growth of parafollicular (C-cells) cells.
HP:0011782	Thyroid crisis	biolink:PhenotypicFeature	hp	MSH:D013958|SNOMEDCT_US:29028009|UMLS:C0040127			http://purl.obolibrary.org/obo/HP_0011782	
HP:0011783	Thyrotoxicosis from ectopic thyroid tissue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87232008|UMLS:C0154148			http://purl.obolibrary.org/obo/HP_0011783	
HP:0011784	Thyrotoxicosis with diffuse goiter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:267374005|UMLS:C0342122		Thyrotoxicosis with diffuse goitre	http://purl.obolibrary.org/obo/HP_0011784	
HP:0011785	Thyrotoxicosis with toxic multinodular goiter	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26389007|UMLS:C0154143		Thyrotoxicosis with toxic multinodular goitre	http://purl.obolibrary.org/obo/HP_0011785	
HP:0011786	Thyrotoxicosis with toxic single thyroid nodule	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69329005|SNOMEDCT_US:73869005|UMLS:C0154141			http://purl.obolibrary.org/obo/HP_0011786	
HP:0011787	Central hypothyroidism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26692000|UMLS:C0271801			http://purl.obolibrary.org/obo/HP_0011787	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	biolink:PhenotypicFeature	hp	UMLS:C4021843		Increased serum fT3|Increased circulating free triiodothyronine|Increased serum free T3|Increased serum free triiodothyronine	http://purl.obolibrary.org/obo/HP_0011788	An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
HP:0011789	Impaired sensitivity to thyroid stimulating hormone	biolink:PhenotypicFeature	hp	UMLS:C4023189		TSHR defect|Thyroid-stimulating hormone receptor defect	http://purl.obolibrary.org/obo/HP_0011789	Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).
HP:0011790	Activating thyroid-stimulating hormone receptor defect	biolink:PhenotypicFeature	hp	UMLS:C4023188		Activating TSHR defect	http://purl.obolibrary.org/obo/HP_0011790	Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.
HP:0011791	Inactivating thyroid-stimulating hormone receptor defect	biolink:PhenotypicFeature	hp	UMLS:C4023187		Inactivating TSHR defect	http://purl.obolibrary.org/obo/HP_0011791	Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.
HP:0011792	Neoplasm by histology	biolink:PhenotypicFeature	hp	UMLS:C4023186			http://purl.obolibrary.org/obo/HP_0011792	Neoplasm categorized according to type of histological abnormality.
HP:0011793	Neoplasm by anatomical site	biolink:PhenotypicFeature	hp	UMLS:C4023185			http://purl.obolibrary.org/obo/HP_0011793	Neoplasm categorized according to the anatomical site of origin of the neoplasm.
HP:0011794	Embryonal renal neoplasm	biolink:PhenotypicFeature	hp	UMLS:C4023184			http://purl.obolibrary.org/obo/HP_0011794	The presence of an embryonal neoplasm of the kidney that primarily affects children.
HP:0011795	Intralobar nephroblastomatosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405934001|UMLS:C1319016			http://purl.obolibrary.org/obo/HP_0011795	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405935000|UMLS:C1319017			http://purl.obolibrary.org/obo/HP_0011796	Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).
HP:0011797	Papillary renal cell carcinoma type 1	biolink:PhenotypicFeature	hp	UMLS:C1336839			http://purl.obolibrary.org/obo/HP_0011797	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	biolink:PhenotypicFeature	hp	MSH:C537750|SNOMEDCT_US:254922006|UMLS:C0346255			http://purl.obolibrary.org/obo/HP_0011798	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	biolink:PhenotypicFeature	hp	UMLS:C4023183		Abnormality of facial soft tissue|Anomaly of facial soft tissue|Deformity of facial soft tissue|Malformation of facial soft tissue	http://purl.obolibrary.org/obo/HP_0011799	
HP:0011800	Midface retrusion	biolink:PhenotypicFeature	hp	UMLS:C1853242|UMLS:C2673410|UMLS:C4280320|UMLS:C4280321	hposlim_core	Small midface|Decreased size of midface|Midface deficiency|Midface retrusion|Underdevelopment of midface|Decreased projection of midface|Flat midface|Hypoplasia of midface|Midface hypoplasia|Midface, flat|Retrusive midface|Hypotrophic midface	http://purl.obolibrary.org/obo/HP_0011800	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:29748005|UMLS:C0341047		Hyperplasia of parotid gland|Increased size of parotid gland|Hypertrophy of parotid gland	http://purl.obolibrary.org/obo/HP_0011801	Increased size of the parotid gland.
HP:0011802	Hamartoma of tongue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253753005|UMLS:C0431565		Lingual hamartoma	http://purl.obolibrary.org/obo/HP_0011802	A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
HP:0011803	Bifid nose	biolink:PhenotypicFeature	hp	MSH:C535441|SNOMEDCT_US:204521002|UMLS:C0221363|UMLS:C4280318|UMLS:C4280319	hposlim_core	Indentation or clefting of the nose|Cleft nasal bridge|Cleft nose|Indented bridge of nose|Bifid nasal bridge	http://purl.obolibrary.org/obo/HP_0011803	Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
HP:0011804	Abnormal muscle physiology	biolink:PhenotypicFeature	hp	UMLS:C4023182		Issue with muscle function|Abnormality of muscle physiology	http://purl.obolibrary.org/obo/HP_0011804	A functional abnormality of a skeletal muscle.
HP:0011805	Abnormal skeletal muscle morphology	biolink:PhenotypicFeature	hp	UMLS:C4023181		Abnormally shaped muscle|Issue with muscle structure|Abnormal muscle morphology|Abnormality of muscle morphology	http://purl.obolibrary.org/obo/HP_0011805	A structural abnormality of a skeletal muscle.
HP:0011807	Type 1 muscle fiber atrophy	biolink:PhenotypicFeature	hp	UMLS:C4023180		Type 1 muscle fibre atrophy	http://purl.obolibrary.org/obo/HP_0011807	Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.
HP:0011808	Decreased patellar reflex	biolink:PhenotypicFeature	hp	UMLS:C3277184		Decreased knee jerk reflex|Decreased patellar reflexes	http://purl.obolibrary.org/obo/HP_0011808	Decreased intensity of the patellar reflex (also known as the knee jerk reflex).
HP:0011809	Paradoxical myotonia	biolink:PhenotypicFeature	hp	UMLS:C4023179			http://purl.obolibrary.org/obo/HP_0011809	A type of myotonia that worsens with repeated muscle contractions.
HP:0011810	Impaired two-point discrimination	biolink:PhenotypicFeature	hp	UMLS:C4023178			http://purl.obolibrary.org/obo/HP_0011810	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	biolink:PhenotypicFeature	hp	UMLS:C4021120		Impaired touch localisation|Impaired topognosis	http://purl.obolibrary.org/obo/HP_0011811	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	biolink:PhenotypicFeature	hp	UMLS:C1328618			http://purl.obolibrary.org/obo/HP_0011812	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	biolink:PhenotypicFeature	hp	UMLS:C4023177			http://purl.obolibrary.org/obo/HP_0011813	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	biolink:PhenotypicFeature	hp	UMLS:C3810487			http://purl.obolibrary.org/obo/HP_0011814	An increased level of hypoxanthine in the urine.
HP:0011815	Cephalocele	biolink:PhenotypicFeature	hp	MSH:D004677|SNOMEDCT_US:253101008|SNOMEDCT_US:48777005|SNOMEDCT_US:55999004|UMLS:C0014065			http://purl.obolibrary.org/obo/HP_0011815	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253109005|UMLS:C0431294			http://purl.obolibrary.org/obo/HP_0011816	An encephalocele located between bregma and lambda.
HP:0011817	Basal encephalocele	biolink:PhenotypicFeature	hp	UMLS:C4023176			http://purl.obolibrary.org/obo/HP_0011817	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253106003|UMLS:C0431291		Naso-frontal encephalocele	http://purl.obolibrary.org/obo/HP_0011818	
HP:0011819	Submucous cleft soft palate	biolink:PhenotypicFeature	hp	UMLS:C4023175	hposlim_core	Partial thickness cleft soft palate|Submucous cleft velum	http://purl.obolibrary.org/obo/HP_0011819	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	biolink:PhenotypicFeature	hp	UMLS:C4023174			http://purl.obolibrary.org/obo/HP_0011820	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	Abnormality of facial skeleton	biolink:PhenotypicFeature	hp	SNOMEDCT_US:433096001|UMLS:C2315229		Abnormality of facial skeleton|Anomaly of facial skeleton|Abnormality of facial bones|Anomaly of facial bones|Deformity of facial skeleton|Deformity of the facial bones|Malformation of facial bones|Malformation of facial skeleton	http://purl.obolibrary.org/obo/HP_0011821	An abnormality of one or more of the set of bones that make up the facial skeleton.
HP:0011822	Broad chin	biolink:PhenotypicFeature	hp	UMLS:C4023172	hposlim_core	Broad chin|Increased width of chin|Wide chin|Increased width of menton region	http://purl.obolibrary.org/obo/HP_0011822	Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.
HP:0011823	Chin with horizontal crease	biolink:PhenotypicFeature	hp	UMLS:C4023171		Chin with horizontal crease|Chin with horizontal groove|Horizontal chin skin cleft|Chin with horizontal furrow|Chin with horizontal sulcus|Horizontal menton crease	http://purl.obolibrary.org/obo/HP_0011823	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	biolink:PhenotypicFeature	hp	UMLS:C1860309		Chin with H-shaped crease|Chin, H-Shaped Crease|Chin, H-shaped groove|H-shaped dimple of the chin	http://purl.obolibrary.org/obo/HP_0011824	H-shaped crease in the fat pad of the chin.
HP:0011825	Tented philtrum	biolink:PhenotypicFeature	hp	UMLS:C4021119	hposlim_core	Philtrum, Tented	http://purl.obolibrary.org/obo/HP_0011825	Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.
HP:0011826	Philtrum with midline raphe	biolink:PhenotypicFeature	hp	UMLS:C4021118	hposlim_core	Philtrum with central raphe|Philtrum with midline ridge|Philtrum, midline raphe	http://purl.obolibrary.org/obo/HP_0011826	Narrow ridge in the midline of the philtral groove.
HP:0011827	Malaligned philtral ridges	biolink:PhenotypicFeature	hp	UMLS:C4021117	hposlim_core	Asymmetric philtral columns|Asymmetric philtral ridges|Malaligned philtral columns|Philtral Ridges, Malaligned	http://purl.obolibrary.org/obo/HP_0011827	Absence of the usual parallel position of philtral ridges.
HP:0011828	Midline sinus of philtrum	biolink:PhenotypicFeature	hp	UMLS:C4021116	hposlim_core	Central sinus of philtrum|Philtrum, Midline Sinus	http://purl.obolibrary.org/obo/HP_0011828	Pit in the midline of the philtral groove.
HP:0011829	Narrow philtrum	biolink:PhenotypicFeature	hp	UMLS:C4021115	hposlim_core	Decreased breadth of philtrum|Decreased horizontal dimension of philtrum|Decreased transverse dimension of philtrum|Decreased width of philtrum|Philtrum, Narrow|Thin philtrum	http://purl.obolibrary.org/obo/HP_0011829	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	biolink:PhenotypicFeature	hp	UMLS:C4023170	hposlim_core	Abnormality of lining of mouth|Abnormality of mucosa of mouth|Abnormality of oral mucosa|Abnormality of oral mucous membrane	http://purl.obolibrary.org/obo/HP_0011830	Abnormality of the oral mucosa.
HP:0011831	Deviated nasal tip	biolink:PhenotypicFeature	hp	UMLS:C4021114|UMLS:C4280271		Asymmetry of nasal tip|Asymmetry of tip of nose|Crooked nasal tip|Crooked tip of nose|Deviated nasal tip|Deviated tip of nose|Distortion of the nasal tip|Nasal tip, deviated	http://purl.obolibrary.org/obo/HP_0011831	Nasal tip positioned to one side of the midline.
HP:0011832	Narrow nasal tip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249331008|UMLS:C0426433	hposlim_core	Narrow nasal tip|Narrow tip of nose|Nasal tip, narrow|Nasal tip, pinched|Pinched nasal tip|Pinched tip of nose|Thin nasal tip|Thin tip of nose	http://purl.obolibrary.org/obo/HP_0011832	Decrease in width of the nasal tip.
HP:0011833	Overhanging nasal tip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249328007|UMLS:C0426430	hposlim_core	Drooping nasal tip|Hooked tip of nose|Low hanging nasal tip|Nasal tip, overhanging|Overhanging nasal tip	http://purl.obolibrary.org/obo/HP_0011833	Positioning of the nasal tip inferior to the nasal base.
HP:0011834	Moyamoya phenomenon	biolink:PhenotypicFeature	hp	UMLS:C4023169			http://purl.obolibrary.org/obo/HP_0011834	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	biolink:PhenotypicFeature	hp	UMLS:C1847189		Missing scaphoid bone|Absent scaphoid bone	http://purl.obolibrary.org/obo/HP_0011835	Congenital absence of the scaphoid..
HP:0011836	Delayed talus ossification	biolink:PhenotypicFeature	hp	UMLS:C4023168			http://purl.obolibrary.org/obo/HP_0011836	Delayed maturation and calcification of the talus.
HP:0011837	Partial IgA deficiency	biolink:PhenotypicFeature	hp	UMLS:C4023167			http://purl.obolibrary.org/obo/HP_0011837	Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.
HP:0011838	Sclerodactyly	biolink:PhenotypicFeature	hp	ICD-10:L94.3|SNOMEDCT_US:201051000|SNOMEDCT_US:298285004|UMLS:C0150988			http://purl.obolibrary.org/obo/HP_0011838	Localized thickening and tightness of the skin of the fingers or toes.
HP:0011839	Abnormal T cell count	biolink:PhenotypicFeature	hp	UMLS:C4021113		Abnormal number of T cells|Abnormality of T cell number	http://purl.obolibrary.org/obo/HP_0011839	A deviation from the normal count of T cells.
HP:0011840	Abnormality of T cell physiology	biolink:PhenotypicFeature	hp	UMLS:C4023166			http://purl.obolibrary.org/obo/HP_0011840	A functional anomaly of T cells.
HP:0011841	Ventricular flutter	biolink:PhenotypicFeature	hp	MSH:D054141|SNOMEDCT_US:111288001|UMLS:C0152173			http://purl.obolibrary.org/obo/HP_0011841	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	Abnormality of skeletal morphology	biolink:PhenotypicFeature	hp	UMLS:C4023165		Abnormally shaped skeletal	http://purl.obolibrary.org/obo/HP_0011842	An abnormality of the form, structure, or size of the skeletal system.
HP:0011843	Abnormality of musculoskeletal physiology	biolink:PhenotypicFeature	hp	UMLS:C4023164			http://purl.obolibrary.org/obo/HP_0011843	An abnormality of the function of the skeletal system.
HP:0011844	Abnormal appendicular skeleton morphology	biolink:PhenotypicFeature	hp	UMLS:C4023163			http://purl.obolibrary.org/obo/HP_0011844	An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
HP:0011845	Short second metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4023162		Short 2nd long bone of foot	http://purl.obolibrary.org/obo/HP_0011845	Short (hypoplastic) second metatarsal bone.
HP:0011846	Osteoblastoma	biolink:PhenotypicFeature	hp	MSH:D018215|SNOMEDCT_US:55333008|UMLS:C0029417			http://purl.obolibrary.org/obo/HP_0011846	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	biolink:PhenotypicFeature	hp	MSH:D018212|SNOMEDCT_US:57500000|SNOMEDCT_US:697970009|UMLS:C0206638		Giant cell tumour of bone	http://purl.obolibrary.org/obo/HP_0011847	A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.
HP:0011848	Abdominal colic	biolink:PhenotypicFeature	hp	MSH:D003085|SNOMEDCT_US:9991008|UMLS:C0232488			http://purl.obolibrary.org/obo/HP_0011848	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	biolink:PhenotypicFeature	hp	MP:0008271|UMLS:C4023161|UMLS:C4280317		Abnormal bone maturation	http://purl.obolibrary.org/obo/HP_0011849	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	biolink:PhenotypicFeature	hp	MSH:D010309|SNOMEDCT_US:14756005|UMLS:C0030583			http://purl.obolibrary.org/obo/HP_0011850	Inflammation of the parotid gland.
HP:0011851	Hemopericardium	biolink:PhenotypicFeature	hp	MSH:D010490|SNOMEDCT_US:23412002|UMLS:C0019064			http://purl.obolibrary.org/obo/HP_0011851	Accumulation of blood within the pericardial sac.
HP:0011852	Chylopericardium	biolink:PhenotypicFeature	hp	MSH:D010490|SNOMEDCT_US:233890005|UMLS:C0242426			http://purl.obolibrary.org/obo/HP_0011852	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	biolink:PhenotypicFeature	hp	UMLS:C4023160			http://purl.obolibrary.org/obo/HP_0011853	Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.
HP:0011854	Hemoperitoneum	biolink:PhenotypicFeature	hp	MSH:D006465|SNOMEDCT_US:443826006|SNOMEDCT_US:45626005|UMLS:C0019065|UMLS:C0744735		Hematoperitoneum	http://purl.obolibrary.org/obo/HP_0011854	Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.
HP:0011855	Pharyngeal edema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2129002|UMLS:C0236024		Throat swelling|Pharyngeal oedema|Swollen throat	http://purl.obolibrary.org/obo/HP_0011855	Abnormal accumulation of fluid leading to swelling of the pharynx.
HP:0011856	Pica	biolink:PhenotypicFeature	hp	MSH:D010842|SNOMEDCT_US:14077003|UMLS:C0031873			http://purl.obolibrary.org/obo/HP_0011856	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	biolink:PhenotypicFeature	hp	MSH:D010954|SNOMEDCT_US:10639003|SNOMEDCT_US:415112005|UMLS:C0032131			http://purl.obolibrary.org/obo/HP_0011857	A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.
HP:0011858	Reduced factor IX activity	biolink:PhenotypicFeature	hp	UMLS:C4023159		Low factor IX activity	http://purl.obolibrary.org/obo/HP_0011858	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:416300008|UMLS:C1562761			http://purl.obolibrary.org/obo/HP_0011859	A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
HP:0011860	Metaphyseal dappling	biolink:PhenotypicFeature	hp	UMLS:C4020907		Dappled metaphyseal sclerosis	http://purl.obolibrary.org/obo/HP_0011860	The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.
HP:0011861	Bilateral trilobed lungs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:448648001|UMLS:C3164377			http://purl.obolibrary.org/obo/HP_0011861	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	biolink:PhenotypicFeature	hp	UMLS:C4023158			http://purl.obolibrary.org/obo/HP_0011862	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	biolink:PhenotypicFeature	hp	UMLS:C1860243		Abnormal maturation of breastbone|Sternal ossification center abnormalities	http://purl.obolibrary.org/obo/HP_0011863	Any anomaly in the formation of the bony substance of the sternum.
HP:0011864	Elevated plasma pyrophosphate	biolink:PhenotypicFeature	hp	UMLS:C4023157			http://purl.obolibrary.org/obo/HP_0011864	An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
HP:0011867	Abnormality of the wing of the ilium	biolink:PhenotypicFeature	hp	UMLS:C4023156			http://purl.obolibrary.org/obo/HP_0011867	An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.
HP:0011868	Sciatica	biolink:PhenotypicFeature	hp	MSH:D012585|SNOMEDCT_US:23056005|UMLS:C0036396			http://purl.obolibrary.org/obo/HP_0011868	Pain in the lower back and hip radiating in the distribution of the sciatic nerve.
HP:0011869	Abnormal platelet function	biolink:PhenotypicFeature	hp	UMLS:C0855740			http://purl.obolibrary.org/obo/HP_0011869	Any anomaly in the function of thrombocytes.
HP:0011870	Impaired arachidonic acid-induced platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C4023155			http://purl.obolibrary.org/obo/HP_0011870	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	biolink:PhenotypicFeature	hp	UMLS:C4023154			http://purl.obolibrary.org/obo/HP_0011871	Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
HP:0011872	Impaired thrombin-induced platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C4023153			http://purl.obolibrary.org/obo/HP_0011872	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165558001|UMLS:C0580317			http://purl.obolibrary.org/obo/HP_0011873	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:73397007|UMLS:C0272285			http://purl.obolibrary.org/obo/HP_0011874	Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.
HP:0011875	Abnormal platelet morphology	biolink:PhenotypicFeature	hp	UMLS:C0855742		Abnormal shape of platelets	http://purl.obolibrary.org/obo/HP_0011875	An anomaly in platelet form, ultrastructure, or intracellular organelles.
HP:0011876	Abnormal platelet volume	biolink:PhenotypicFeature	hp	UMLS:C4023152			http://purl.obolibrary.org/obo/HP_0011876	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	biolink:PhenotypicFeature	hp	UMLS:C1096367		Large platelets	http://purl.obolibrary.org/obo/HP_0011877	Average platelet volume above the upper limit of the normal reference interval.
HP:0011878	Abnormal platelet membrane protein expression	biolink:PhenotypicFeature	hp	UMLS:C4023151			http://purl.obolibrary.org/obo/HP_0011878	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	biolink:PhenotypicFeature	hp	UMLS:C4023150			http://purl.obolibrary.org/obo/HP_0011879	Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.
HP:0011880	Acute disseminated intravascular coagulation	biolink:PhenotypicFeature	hp	UMLS:C4023149			http://purl.obolibrary.org/obo/HP_0011880	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	biolink:PhenotypicFeature	hp	UMLS:C4023148			http://purl.obolibrary.org/obo/HP_0011881	Decreased cell membrane concentration of glycoprotein VI.
HP:0011882	Decreased platelet P2Y12 receptor	biolink:PhenotypicFeature	hp	UMLS:C4023147			http://purl.obolibrary.org/obo/HP_0011882	Decreased cell membrane concentration of P2Y12 receptor.
HP:0011883	Abnormal platelet granules	biolink:PhenotypicFeature	hp	UMLS:C4023146			http://purl.obolibrary.org/obo/HP_0011883	An anomaly of alpha or dense granules or platelet lysosomes.
HP:0011884	Abnormal umbilical stump bleeding	biolink:PhenotypicFeature	hp	UMLS:C4023145			http://purl.obolibrary.org/obo/HP_0011884	Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
HP:0011885	Hemorrhage of the eye	biolink:PhenotypicFeature	hp	MSH:D005130|SNOMEDCT_US:417244000|SNOMEDCT_US:93478000|UMLS:C0015402		Bleeding from the eye|Haemorrhage of the eye	http://purl.obolibrary.org/obo/HP_0011885	Bleeding from vessels of the various tissues of the eye.
HP:0011886	Hyphema	biolink:PhenotypicFeature	hp	MSH:D006988|SNOMEDCT_US:75229002|UMLS:C0020581			http://purl.obolibrary.org/obo/HP_0011886	Bleeding in the anterior chamber of the eye.
HP:0011887	Choroid hemorrhage	biolink:PhenotypicFeature	hp	MSH:D002832|SNOMEDCT_US:122003|UMLS:C0008522		Choroid haemorrhage|Choroidal hemorrhage	http://purl.obolibrary.org/obo/HP_0011887	Hemorrhage from the vessels of the choroid.
HP:0011888	Bleeding requiring red cell transfusion	biolink:PhenotypicFeature	hp	UMLS:C4023144		Bleeding requiring red cell transfusion	http://purl.obolibrary.org/obo/HP_0011888	Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).
HP:0011889	Bleeding with minor or no trauma	biolink:PhenotypicFeature	hp	UMLS:C4023143		Bleeding with minor or no trauma|Easy bleeding	http://purl.obolibrary.org/obo/HP_0011889	Significant bleeding or hemorrhage without significant precipitating factor.
HP:0011890	Prolonged bleeding following procedure	biolink:PhenotypicFeature	hp	UMLS:C4023142		Prolonged bleeding following procedure	http://purl.obolibrary.org/obo/HP_0011890	Prolonged or protracted bleeding following an invasive procedure or intervention.
HP:0011891	Post-partum hemorrhage	biolink:PhenotypicFeature	hp	MSH:D006473|SNOMEDCT_US:47821001|UMLS:C0032797		Bleeding post-delivery|Post-partum haemorrhage	http://purl.obolibrary.org/obo/HP_0011891	Significant maternal haemorrhage/blood loss following deilvery of a child.
HP:0011892	Low levels of vitamin K	biolink:PhenotypicFeature	hp	MSH:D014813|SNOMEDCT_US:52675005|UMLS:C0042880			http://purl.obolibrary.org/obo/HP_0011892	A reduced concentration of vitamin K.
HP:0011893	Abnormal leukocyte count	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165509000|UMLS:C0580531		Abnormal white blood cell count	http://purl.obolibrary.org/obo/HP_0011893	Number of leukocytes per volume of blood beyond normal limits.
HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C4023141			http://purl.obolibrary.org/obo/HP_0011894	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	biolink:PhenotypicFeature	hp	UMLS:C4021112		Anaemia due to reduced life span of red cells	http://purl.obolibrary.org/obo/HP_0011895	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78768009|UMLS:C0038534		Subconjunctival haemorrhage	http://purl.obolibrary.org/obo/HP_0011896	Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.
HP:0011897	Neutrophilia	biolink:PhenotypicFeature	hp	UMLS:C4023140		Increased blood neutrophil counts	http://purl.obolibrary.org/obo/HP_0011897	Increased number of neutrophils circulating in blood.
HP:0011898	Abnormality of circulating fibrinogen	biolink:PhenotypicFeature	hp	UMLS:C4023139			http://purl.obolibrary.org/obo/HP_0011898	An abnormality of the level of activity of circulating fibrinogen.
HP:0011899	Hyperfibrinogenemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:439000005|UMLS:C0919890			http://purl.obolibrary.org/obo/HP_0011899	Increased concentration of fibrinogen in the blood.
HP:0011900	Hypofibrinogenemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:234457009|UMLS:C0553681		Low fibrinogen activity|Low fibrinogen level	http://purl.obolibrary.org/obo/HP_0011900	Decreased concentration of fibrinogen in the blood.
HP:0011901	Dysfibrinogenemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111589005|UMLS:C1260903		Dysfibrinogenaemia	http://purl.obolibrary.org/obo/HP_0011901	Qualitatively abnormal fibrinogen.
HP:0011902	Abnormal hemoglobin	biolink:PhenotypicFeature	hp	UMLS:C0349705		Abnormal Hb|Abnormal haemoglobin	http://purl.obolibrary.org/obo/HP_0011902	Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.
HP:0011903	HbH hemoglobin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48553001|UMLS:C3161174		HbH haemoglobin|Hemoglobin H	http://purl.obolibrary.org/obo/HP_0011903	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	biolink:PhenotypicFeature	hp	UMLS:C0239941		Persistence of HbF|Persistence of haemoglobin F|Increased hemoglobin F	http://purl.obolibrary.org/obo/HP_0011904	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	biolink:PhenotypicFeature	hp	UMLS:C4023138		Reduced HbA|Reduced haemoglobin A	http://purl.obolibrary.org/obo/HP_0011905	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	biolink:PhenotypicFeature	hp	UMLS:C4023137			http://purl.obolibrary.org/obo/HP_0011906	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	biolink:PhenotypicFeature	hp	UMLS:C4023136			http://purl.obolibrary.org/obo/HP_0011907	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	biolink:PhenotypicFeature	hp	UMLS:C4023135			http://purl.obolibrary.org/obo/HP_0011908	Missing radius bone on one side only associated with congenital failure of development.
HP:0011909	Flattened metacarpal heads	biolink:PhenotypicFeature	hp	UMLS:C4023134		Flattened head of long bone of hand	http://purl.obolibrary.org/obo/HP_0011909	Abnormally flat shape of the heads of the metacarpal bones.
HP:0011910	Shortening of all phalanges of fingers	biolink:PhenotypicFeature	hp	UMLS:C4023133		Shortening of all finger bones	http://purl.obolibrary.org/obo/HP_0011910	Abnormal reduction in length affecting all phalanges.
HP:0011911	Abnormality of metacarpophalangeal joint	biolink:PhenotypicFeature	hp	UMLS:C4023132		Abnormality of the knuckle	http://purl.obolibrary.org/obo/HP_0011911	An anomaly of a metacarpophalangeal joint.
HP:0011912	Abnormality of the glenoid fossa	biolink:PhenotypicFeature	hp	UMLS:C4023131			http://purl.obolibrary.org/obo/HP_0011912	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	biolink:PhenotypicFeature	hp	UMLS:C4023130			http://purl.obolibrary.org/obo/HP_0011913	Excessive, increased hair growth located in the lumbar region.
HP:0011914	Thoracic hypertrichosis	biolink:PhenotypicFeature	hp	UMLS:C4023129			http://purl.obolibrary.org/obo/HP_0011914	Excessive, increased hair growth located in the thoracic region.
HP:0011915	Cardiovascular calcification	biolink:PhenotypicFeature	hp	UMLS:C4023128			http://purl.obolibrary.org/obo/HP_0011915	Abnormal calcification in the cardiovascular system.
HP:0011916	Toe extensor amyotrophy	biolink:PhenotypicFeature	hp	UMLS:C4023127			http://purl.obolibrary.org/obo/HP_0011916	Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.
HP:0011917	Short 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021111		Short little toe|Short pinkie toe|Short pinky toe|Short fifth toe	http://purl.obolibrary.org/obo/HP_0011917	Underdevelopment (hypoplasia) of the fifth toe.
HP:0011918	Clinodactyly of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020740		Curvature of 4th toe|4th toe clinodactyly	http://purl.obolibrary.org/obo/HP_0011918	Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).
HP:0011919	Pleural empyema	biolink:PhenotypicFeature	hp	MSH:D016724|SNOMEDCT_US:405950009|SNOMEDCT_US:405951008|SNOMEDCT_US:58554001|UMLS:C0014013		Pyothorax	http://purl.obolibrary.org/obo/HP_0011919	Accumulation of pus in the pleural cavity.
HP:0011920	Transudative pleural effusion	biolink:PhenotypicFeature	hp	MSH:D006876|SNOMEDCT_US:79231000|UMLS:C0020312			http://purl.obolibrary.org/obo/HP_0011920	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:13841000119107|UMLS:C3887491			http://purl.obolibrary.org/obo/HP_0011921	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	biolink:PhenotypicFeature	hp	UMLS:C4023126			http://purl.obolibrary.org/obo/HP_0011922	An increased or decreased activity of the mitochondrial respiratory chain.
HP:0011923	Decreased activity of mitochondrial complex I	biolink:PhenotypicFeature	hp	UMLS:C2677650|UMLS:C4020739		Respiratory complex I deficiency	http://purl.obolibrary.org/obo/HP_0011923	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	biolink:PhenotypicFeature	hp	UMLS:C3149083|UMLS:C4020738		Respiratory complex III deficiency	http://purl.obolibrary.org/obo/HP_0011924	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	biolink:PhenotypicFeature	hp	UMLS:C4020737|UMLS:C4023125		Respiratory complex deficiency, ATPase deficiency	http://purl.obolibrary.org/obo/HP_0011925	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	biolink:PhenotypicFeature	hp	UMLS:C4021110		Proximally placed halluces|Proximal placement of big toe	http://purl.obolibrary.org/obo/HP_0011926	Proximal mislocalization of the big toe from its normal position.
HP:0011927	Short digit	biolink:PhenotypicFeature	hp	UMLS:C1860176|UMLS:C4023124		Short digit|Very short digits	http://purl.obolibrary.org/obo/HP_0011927	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	biolink:PhenotypicFeature	hp	UMLS:C4023123		Short innermost toe bone	http://purl.obolibrary.org/obo/HP_0011928	Developmental hypoplasia (shortening) of proximal phalanx of toe.
HP:0011929	Hypersegmentation of proximal phalanx of third finger	biolink:PhenotypicFeature	hp	UMLS:C4023122			http://purl.obolibrary.org/obo/HP_0011929	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	biolink:PhenotypicFeature	hp	UMLS:C4021836		Hyperelastic chest skin|Stretchable chest skin	http://purl.obolibrary.org/obo/HP_0011930	
HP:0011931	Abnormality of the cerebellar peduncle	biolink:PhenotypicFeature	hp	UMLS:C4023121			http://purl.obolibrary.org/obo/HP_0011931	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	Abnormality of the superior cerebellar peduncle	biolink:PhenotypicFeature	hp	UMLS:C4023120			http://purl.obolibrary.org/obo/HP_0011932	An anomaly of the superior cerebellar peduncle.
HP:0011933	Elongated superior cerebellar peduncle	biolink:PhenotypicFeature	hp	UMLS:C3810214|UMLS:C4021109		Long cerebellar peduncle|Long cerebellar peduncles|Elongated superior cerebellar peduncles	http://purl.obolibrary.org/obo/HP_0011933	Increased length of the superior cerebellar peduncle.
HP:0011934	Dilatation of mesenteric artery	biolink:PhenotypicFeature	hp	UMLS:C4023119		Mesenteric artery aneurysm	http://purl.obolibrary.org/obo/HP_0011934	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .
HP:0011935	Decreased urinary urate	biolink:PhenotypicFeature	hp	UMLS:C4023118			http://purl.obolibrary.org/obo/HP_0011935	Decreased concentration of urate in the urine.
HP:0011936	Decreased plasma total carnitine	biolink:PhenotypicFeature	hp	UMLS:C4023117		Decreased plasma total carnitine	http://purl.obolibrary.org/obo/HP_0011936	A decreased concentration of total carnitine in the blood.
HP:0011937	Hypoplastic fifth toenail	biolink:PhenotypicFeature	hp	UMLS:C4023116		Small fifth toenail|Underdeveloped fifth toenail	http://purl.obolibrary.org/obo/HP_0011937	Underdeveloped nails of the fifth toes.
HP:0011939	3-4 finger cutaneous syndactyly	biolink:PhenotypicFeature	hp	UMLS:C4023115			http://purl.obolibrary.org/obo/HP_0011939	A soft tissue continuity in the A/P axis between fingers 3 and 4.
HP:0011940	Anterior wedging of T12	biolink:PhenotypicFeature	hp	UMLS:C4021108		Anterior wedging of the 12th thoracic vertebra|Wedge-shaped 12th thoracic vertebra	http://purl.obolibrary.org/obo/HP_0011940	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	biolink:PhenotypicFeature	hp	UMLS:C4023114			http://purl.obolibrary.org/obo/HP_0011941	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	biolink:PhenotypicFeature	hp	UMLS:C1848957			http://purl.obolibrary.org/obo/HP_0011942	Increased concentration of SO3(2-), i.e., sulfite, in the urine.
HP:0011943	Increased urinary thiosulfate	biolink:PhenotypicFeature	hp	UMLS:C3148695			http://purl.obolibrary.org/obo/HP_0011943	Increased concentration of thiosulfate(2-) in the urine.
HP:0011944	Small vessel vasculitis	biolink:PhenotypicFeature	hp	UMLS:C4023113			http://purl.obolibrary.org/obo/HP_0011944	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	biolink:PhenotypicFeature	hp	MSH:D018549|SNOMEDCT_US:129458007|UMLS:C0242770		BOOP|Bronchiolitis obliterans organising pneumonia|Cryptogenic organizing pneumonia	http://purl.obolibrary.org/obo/HP_0011945	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	biolink:PhenotypicFeature	hp	MSH:D001989|SNOMEDCT_US:40100001|UMLS:C0006272|UMLS:C2350875		Constrictive bronchiolitis|Obliterative bronchiolitis	http://purl.obolibrary.org/obo/HP_0011946	Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.
HP:0011947	Respiratory tract infection	biolink:PhenotypicFeature	hp	MSH:D012141|SNOMEDCT_US:275498002|UMLS:C0035243		Respiratory infection|Respiratory tract infection|Respiratory infections	http://purl.obolibrary.org/obo/HP_0011947	An infection of the upper or lower respiratory tract.
HP:0011948	Recurrent acute respiratory tract infection	biolink:PhenotypicFeature	hp	UMLS:C1442786		Acute respiratory tract infection	http://purl.obolibrary.org/obo/HP_0011948	A history of repeated acute infections of the upper or lower respiratory tract.
HP:0011949	Acute infectious pneumonia	biolink:PhenotypicFeature	hp	UMLS:C4023112			http://purl.obolibrary.org/obo/HP_0011949	Acute inflammation of the lung due to an infection.
HP:0011950	Bronchiolitis	biolink:PhenotypicFeature	hp	MSH:D001988|SNOMEDCT_US:4120002|UMLS:C0006271			http://purl.obolibrary.org/obo/HP_0011950	Inflammation of the bronchioles.
HP:0011951	Aspiration pneumonia	biolink:PhenotypicFeature	hp	MSH:D011015|SNOMEDCT_US:422588002|UMLS:C0032290			http://purl.obolibrary.org/obo/HP_0011951	Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
HP:0011952	Acute aspiration pneumonia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:35031000119100|UMLS:C4023111			http://purl.obolibrary.org/obo/HP_0011952	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	biolink:PhenotypicFeature	hp	UMLS:C0519063			http://purl.obolibrary.org/obo/HP_0011953	Lung parenchymal involvement with lymphoma.
HP:0011954	Nodular regenerative hyperplasia of liver	biolink:PhenotypicFeature	hp	SNOMEDCT_US:65860006|SNOMEDCT_US:715140008|UMLS:C1318485		Nodular transformation of liver|Noncirrhotic nodulation|Partial nodular transformation of liver	http://purl.obolibrary.org/obo/HP_0011954	Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
HP:0011955	Hepatic granulomatosis	biolink:PhenotypicFeature	hp	UMLS:C4023110			http://purl.obolibrary.org/obo/HP_0011955	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	biolink:PhenotypicFeature	hp	UMLS:C4023109			http://purl.obolibrary.org/obo/HP_0011956	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	biolink:PhenotypicFeature	hp	UMLS:C4023108		Abnormal pec muscles	http://purl.obolibrary.org/obo/HP_0011957	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	biolink:PhenotypicFeature	hp	MSH:D012167|SNOMEDCT_US:232003005|SNOMEDCT_US:302888003|SNOMEDCT_US:40024006|SNOMEDCT_US:95690009|UMLS:C0035321		Retinal tear|Torn retina	http://purl.obolibrary.org/obo/HP_0011958	A small hole through the whole thickness of the retina.
HP:0011959	Unilateral hypoplasia of pectoralis major muscle	biolink:PhenotypicFeature	hp	UMLS:C4023107		Small pec muscle on one side|Underdeveloped pec muscle on one side	http://purl.obolibrary.org/obo/HP_0011959	Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.
HP:0011960	Substantia nigra gliosis	biolink:PhenotypicFeature	hp	UMLS:C1846865			http://purl.obolibrary.org/obo/HP_0011960	Focal proliferation of glial cells in the substantia nigra.
HP:0011961	Non-obstructive azoospermia	biolink:PhenotypicFeature	hp	UMLS:C4021107		Testicular azoospermia	http://purl.obolibrary.org/obo/HP_0011961	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	biolink:PhenotypicFeature	hp	UMLS:C4023106			http://purl.obolibrary.org/obo/HP_0011962	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	biolink:PhenotypicFeature	hp	UMLS:C4023105			http://purl.obolibrary.org/obo/HP_0011963	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	biolink:PhenotypicFeature	hp	UMLS:C4023104			http://purl.obolibrary.org/obo/HP_0011964	History of repeated intermittent involuntary muscle contractions that were painful.
HP:0011965	Abnormal circulating citrulline concentration	biolink:PhenotypicFeature	hp	UMLS:C4023103			http://purl.obolibrary.org/obo/HP_0011965	Any deviation from the normal concentration of citrulline in the blood circulation.
HP:0011966	Elevated plasma citrulline	biolink:PhenotypicFeature	hp	UMLS:C4023102			http://purl.obolibrary.org/obo/HP_0011966	An increased concentration of citrulline in the blood.
HP:0011967	Decreased circulating copper concentration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19577007|UMLS:C0268070		Copper deficiency|Hypocupremia|Reduced serum copper	http://purl.obolibrary.org/obo/HP_0011967	A reduced concentration of copper in the blood.
HP:0011968	Feeding difficulties	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78164000|UMLS:C0232466	hposlim_core	Feeding difficulties|Feeding problems|Poor feeding	http://purl.obolibrary.org/obo/HP_0011968	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	biolink:PhenotypicFeature	hp	UMLS:C4023101		Elevated LH level|Elevated luteinizing hormone|Increased circulating luteinizing hormone level	http://purl.obolibrary.org/obo/HP_0011969	An elevated concentration of luteinizing hormone in the blood.
HP:0011970	Cerebral amyloid angiopathy	biolink:PhenotypicFeature	hp	MSH:D016657|SNOMEDCT_US:230724001|UMLS:C0085220			http://purl.obolibrary.org/obo/HP_0011970	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:402410006|SNOMEDCT_US:402601007|SNOMEDCT_US:7632005|UMLS:C0343065		Dermatographism|Dermographism	http://purl.obolibrary.org/obo/HP_0011971	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	biolink:PhenotypicFeature	hp	UMLS:C0598121		Low glucose levels in cerebral spinal fluid|Decreased CSF glucose	http://purl.obolibrary.org/obo/HP_0011972	Abnormally low glucose concentration in the cerebrospinal fluid.
HP:0011973	Paroxysmal lethargy	biolink:PhenotypicFeature	hp	UMLS:C1847507			http://purl.obolibrary.org/obo/HP_0011973	Repeated episodes of sudden-onset and transient lethargy.
HP:0011974	Myelofibrosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:52967002|UMLS:C0026987			http://purl.obolibrary.org/obo/HP_0011974	Replacement of bone marrow by fibrous tissue.
HP:0011975	Aminoglycoside-induced hearing loss	biolink:PhenotypicFeature	hp	UMLS:C4023100			http://purl.obolibrary.org/obo/HP_0011975	Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.
HP:0011976	Elevated urinary catecholamines	biolink:PhenotypicFeature	hp	UMLS:C0241577		Elevated urinary catecholamines	http://purl.obolibrary.org/obo/HP_0011976	An increased concentration of catecholamine in the urine.
HP:0011977	Elevated urinary homovanillic acid	biolink:PhenotypicFeature	hp	UMLS:C4020736		Increased urinary homovanillic acid	http://purl.obolibrary.org/obo/HP_0011977	An increased concentration of homovanillic acid in the urine.
HP:0011978	Elevated urinary vanillylmandelic acid	biolink:PhenotypicFeature	hp	UMLS:C4020735		Increased urinary vanillylmandelic acid	http://purl.obolibrary.org/obo/HP_0011978	An increased concentration of vanillylmandelic acid in the urine.
HP:0011979	Elevated urinary dopamine	biolink:PhenotypicFeature	hp	UMLS:C4023099		Elevated urinary dopamine	http://purl.obolibrary.org/obo/HP_0011979	An increased concentration of dopamine in the urine.
HP:0011980	Cholesterol gallstones	biolink:PhenotypicFeature	hp	UMLS:C0856727			http://purl.obolibrary.org/obo/HP_0011980	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	biolink:PhenotypicFeature	hp	UMLS:C3278865			http://purl.obolibrary.org/obo/HP_0011981	Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.
HP:0011982	Black pigment gallstones	biolink:PhenotypicFeature	hp	UMLS:C4023098			http://purl.obolibrary.org/obo/HP_0011982	A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.
HP:0011983	Brown pigment gallstones	biolink:PhenotypicFeature	hp	UMLS:C4023097			http://purl.obolibrary.org/obo/HP_0011983	A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.
HP:0011984	Atretic gallbladder	biolink:PhenotypicFeature	hp	UMLS:C3277945		Gallbladder atresia	http://purl.obolibrary.org/obo/HP_0011984	Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.
HP:0011985	Acholic stools	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70396004|UMLS:C2675627		Clay colored stools|Acholia|Discolored, acholic stools	http://purl.obolibrary.org/obo/HP_0011985	Clay colored stools lacking bile pigment.
HP:0011986	Ectopic ossification	biolink:PhenotypicFeature	hp	MEDDRA:10065453|MSH:D009999|SNOMEDCT_US:128491006|UMLS:C0029396		Ectopic bone formation|Heterotopic ossification	http://purl.obolibrary.org/obo/HP_0011986	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	biolink:PhenotypicFeature	hp	UMLS:C4023096		Calcification of muscle tissue	http://purl.obolibrary.org/obo/HP_0011987	Formation of abnormal bony tissue within muscle tissue.
HP:0011988	Ectopic ossification in tendon tissue	biolink:PhenotypicFeature	hp	UMLS:C4023095			http://purl.obolibrary.org/obo/HP_0011988	Formation of abnormal bony tissue within tendon tissue.
HP:0011989	Ectopic ossification in ligament tissue	biolink:PhenotypicFeature	hp	UMLS:C4023094			http://purl.obolibrary.org/obo/HP_0011989	Formation of abnormal bony tissue within ligament tissue.
HP:0011990	Abnormality of neutrophil physiology	biolink:PhenotypicFeature	hp	UMLS:C4023093			http://purl.obolibrary.org/obo/HP_0011990	A functional abnormality of neutrophils.
HP:0011991	Abnormal neutrophil count	biolink:PhenotypicFeature	hp	UMLS:C4023092		Abnormal neutrophil cell number	http://purl.obolibrary.org/obo/HP_0011991	A deviation from the normal range of neutrophil cell counts in the circulation.
HP:0011992	Abnormality of neutrophil morphology	biolink:PhenotypicFeature	hp	UMLS:C4023091			http://purl.obolibrary.org/obo/HP_0011992	An abnormal form or size of neutrophils.
HP:0011993	Impaired neutrophil bactericidal activity	biolink:PhenotypicFeature	hp	UMLS:C4023090			http://purl.obolibrary.org/obo/HP_0011993	A reduction in the ability of neutrophils to kill bacteria.
HP:0011994	Abnormal atrial septum morphology	biolink:PhenotypicFeature	hp	Fyler:2002|SNOMEDCT_US:253363004|UMLS:C0344722		Abnormal interatrial septum morphology|Abnormality of the atrial septum	http://purl.obolibrary.org/obo/HP_0011994	An abnormality of the interatrial septum.
HP:0011995	Atrial septal dilatation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95440004|UMLS:C0521533		Atrial septal aneurysm	http://purl.obolibrary.org/obo/HP_0011995	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	biolink:PhenotypicFeature	hp	UMLS:C4021106		Elevated factor V activity|Plasma factor V elevated	http://purl.obolibrary.org/obo/HP_0011996	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	biolink:PhenotypicFeature	hp	UMLS:C4023089			http://purl.obolibrary.org/obo/HP_0011997	Abnormally increased level of blood lactate following a meal.
HP:0011998	Postprandial hyperglycemia	biolink:PhenotypicFeature	hp	MSH:D006943|UMLS:C1855520			http://purl.obolibrary.org/obo/HP_0011998	An increased concentration of glucose in the blood following a meal.
HP:0011999	Paranoia	biolink:PhenotypicFeature	hp	MSH:D010259|SNOMEDCT_US:191667009|UMLS:C1456784		Paranoia	http://purl.obolibrary.org/obo/HP_0011999	A persecutory delusion of supposed hostility of others.
HP:0012000	EEG with generalized spikes	biolink:PhenotypicFeature	hp	UMLS:C2206531		EEG with generalised spikes	http://purl.obolibrary.org/obo/HP_0012000	EEG with generalized sharp transient waves of a duration less than 80 msec.
HP:0012001	EEG with generalized polyspikes	biolink:PhenotypicFeature	hp	UMLS:C4023088		EEG with generalised polyspikes	http://purl.obolibrary.org/obo/HP_0012001	EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.
HP:0012002	Experiential epileptic aura	biolink:PhenotypicFeature	hp	UMLS:C4023087		Experiential auras|Experiential aura	http://purl.obolibrary.org/obo/HP_0012002	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	biolink:PhenotypicFeature	hp	UMLS:C4023086		Affective auras|Affective aura|Emotional aura	http://purl.obolibrary.org/obo/HP_0012003	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	biolink:PhenotypicFeature	hp	UMLS:C4023085		Mnemonic auras|Mnemonic aura	http://purl.obolibrary.org/obo/HP_0012004	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	biolink:PhenotypicFeature	hp	MSH:D003690|SNOMEDCT_US:313005|UMLS:C0011194		Deja vu	http://purl.obolibrary.org/obo/HP_0012005	A subjective feeling that an experience which is occurring for the first time has been experienced before.
HP:0012006	Jamais vu aura	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28249008|UMLS:C0233803		Jamais vu	http://purl.obolibrary.org/obo/HP_0012006	A subjective feeling that an experience which has occurred before is being experienced for the first time.
HP:0012007	Focal cognitive seizure with hallucination	biolink:PhenotypicFeature	hp	UMLS:C4023084		Hallucinatory auras|Hallucinatory aura	http://purl.obolibrary.org/obo/HP_0012007	A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.
HP:0012008	Focal cognitive seizure with illusion	biolink:PhenotypicFeature	hp	UMLS:C4023083		Illusory auras|Illusory aura	http://purl.obolibrary.org/obo/HP_0012008	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	biolink:PhenotypicFeature	hp	UMLS:C4023082			http://purl.obolibrary.org/obo/HP_0012009	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	biolink:PhenotypicFeature	hp	UMLS:C4023081			http://purl.obolibrary.org/obo/HP_0012010	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	biolink:PhenotypicFeature	hp	UMLS:C4023080			http://purl.obolibrary.org/obo/HP_0012011	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	biolink:PhenotypicFeature	hp	UMLS:C4023079			http://purl.obolibrary.org/obo/HP_0012012	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	biolink:PhenotypicFeature	hp	UMLS:C4023078			http://purl.obolibrary.org/obo/HP_0012013	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	biolink:PhenotypicFeature	hp	UMLS:C4023077			http://purl.obolibrary.org/obo/HP_0012014	EEG with focal sharp transient waves of a duration less than 80 msec in the central region.
HP:0012015	EEG with frontal focal spikes	biolink:PhenotypicFeature	hp	UMLS:C4023076			http://purl.obolibrary.org/obo/HP_0012015	EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.
HP:0012016	EEG with occipital focal spikes	biolink:PhenotypicFeature	hp	UMLS:C4023075			http://purl.obolibrary.org/obo/HP_0012016	EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.
HP:0012017	EEG with parietal focal spikes	biolink:PhenotypicFeature	hp	UMLS:C4023074			http://purl.obolibrary.org/obo/HP_0012017	EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.
HP:0012018	EEG with temporal focal spikes	biolink:PhenotypicFeature	hp	UMLS:C4023073			http://purl.obolibrary.org/obo/HP_0012018	EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.
HP:0012019	Lens luxation	biolink:PhenotypicFeature	hp	MSH:D007906|UMLS:C0023309		Dislocated lens|Dislocated lenses	http://purl.obolibrary.org/obo/HP_0012019	Complete dislocation of the lens of the eye.
HP:0012020	Right aortic arch	biolink:PhenotypicFeature	hp	Fyler:2720|SNOMEDCT_US:111321007|SNOMEDCT_US:244229003|UMLS:C0035615		Right-sided aortic arch	http://purl.obolibrary.org/obo/HP_0012020	Aorta descends on right instead of on the left.
HP:0012021	Persistent patent ductus venosus	biolink:PhenotypicFeature	hp	UMLS:C4023072			http://purl.obolibrary.org/obo/HP_0012021	Persistence of blood flow through the ductus venosus for longer than the normal time after birth.
HP:0012022	Congenital portosystemic venous shunt	biolink:PhenotypicFeature	hp	MSH:C562830|SNOMEDCT_US:253330006|UMLS:C0344688			http://purl.obolibrary.org/obo/HP_0012022	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71690006|UMLS:C0268157		Increased urinary galactose level	http://purl.obolibrary.org/obo/HP_0012023	Elevated concentration of galactose in the urine.
HP:0012024	Hypergalactosemia	biolink:PhenotypicFeature	hp	MSH:D005693|SNOMEDCT_US:190745006|SNOMEDCT_US:190749000|UMLS:C0016952|UMLS:C4023071		Galactosemia	http://purl.obolibrary.org/obo/HP_0012024	Elevated concentration of galactose in the blood.
HP:0012025	Abnormal circulating ornithine concentration	biolink:PhenotypicFeature	hp	UMLS:C4023070			http://purl.obolibrary.org/obo/HP_0012025	Deviation from the normal concentration of ornithine in the blood circulation.
HP:0012026	Hyperornithinemia	biolink:PhenotypicFeature	hp	MSH:D015799|SNOMEDCT_US:276426004|SNOMEDCT_US:33985005|UMLS:C0599035		High blood ornithine levels	http://purl.obolibrary.org/obo/HP_0012026	Increased concentration of ornithine in the blood.
HP:0012027	Laryngeal edema	biolink:PhenotypicFeature	hp	MSH:D007819|SNOMEDCT_US:51599000|UMLS:C0023052		Laryngeal oedema	http://purl.obolibrary.org/obo/HP_0012027	An abnormal accumulation of fluid and swelling in the tissues of the larynx.
HP:0012028	Hepatocellular adenoma	biolink:PhenotypicFeature	hp	MPATH:353|MSH:D018248|SNOMEDCT_US:424263008|SNOMEDCT_US:78058005|UMLS:C0206669		Hepatic adenoma|Liver cell adenoma	http://purl.obolibrary.org/obo/HP_0012028	A benign tumor of the liver of presumably epithelial origin.
HP:0012029	Abnormal urine hormone level	biolink:PhenotypicFeature	hp	UMLS:C4023069		Abnormality of urine hormone level	http://purl.obolibrary.org/obo/HP_0012029	An abnormal concentration of a hormone in the urine.
HP:0012030	Increased urinary cortisol level	biolink:PhenotypicFeature	hp	UMLS:C4023068		High urine cortisol level	http://purl.obolibrary.org/obo/HP_0012030	Abnormally increased concentration of cortisol in the urine.
HP:0012031	Lipomatous tumor	biolink:PhenotypicFeature	hp	MPATH:415|MSH:D018205|SNOMEDCT_US:115227001|SNOMEDCT_US:254827004|SNOMEDCT_US:254831005|UMLS:C0206631		Lipomatous tumour	http://purl.obolibrary.org/obo/HP_0012031	
HP:0012032	Lipoma	biolink:PhenotypicFeature	hp	MEDDRA:10024612|MPATH:417|MSH:D008067|SNOMEDCT_US:46720004|SNOMEDCT_US:93163002|UMLS:C0023798	hposlim_core	Fatty lump|Noncancerous fatty lump	http://purl.obolibrary.org/obo/HP_0012032	Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
HP:0012033	Sacral lipoma	biolink:PhenotypicFeature	hp	UMLS:C4021835			http://purl.obolibrary.org/obo/HP_0012033	Presence of a lipoma in the region of the sacrum.
HP:0012034	Liposarcoma	biolink:PhenotypicFeature	hp	MPATH:418|MSH:D008080|SNOMEDCT_US:254829001|SNOMEDCT_US:49430005|UMLS:C0023827			http://purl.obolibrary.org/obo/HP_0012034	Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.
HP:0012035	Steatocystoma multiplex	biolink:PhenotypicFeature	hp	MSH:D062685|SNOMEDCT_US:109433009|UMLS:C0259771			http://purl.obolibrary.org/obo/HP_0012035	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	biolink:PhenotypicFeature	hp	UMLS:C4023067			http://purl.obolibrary.org/obo/HP_0012036	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	biolink:PhenotypicFeature	hp	UMLS:C4023066		Wasting of pec muscles	http://purl.obolibrary.org/obo/HP_0012037	Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.
HP:0012038	Corneal guttata	biolink:PhenotypicFeature	hp	SNOMEDCT_US:373424008|UMLS:C0271288		Corneal endothelial guttata	http://purl.obolibrary.org/obo/HP_0012038	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:193821003|UMLS:C0155116			http://purl.obolibrary.org/obo/HP_0012039	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:373430008|UMLS:C0474444		Corneal stromal oedema	http://purl.obolibrary.org/obo/HP_0012040	Abnormal accumulation of fluid and swelling of the stroma of cornea.
HP:0012041	Decreased fertility in males	biolink:PhenotypicFeature	hp	UMLS:C0151640		Decreased fertility in males	http://purl.obolibrary.org/obo/HP_0012041	
HP:0012042	Aspirin-induced asthma	biolink:PhenotypicFeature	hp	MSH:D055963|SNOMEDCT_US:407674008|UMLS:C1319853		Aspirin-induced asthma	http://purl.obolibrary.org/obo/HP_0012042	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	biolink:PhenotypicFeature	hp	MSH:D009759|SNOMEDCT_US:35743001|UMLS:C0271388|UMLS:C4020734		Nystagmus, continuous pendular|Nystagmus, pendular	http://purl.obolibrary.org/obo/HP_0012043	Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
HP:0012044	Seesaw nystagmus	biolink:PhenotypicFeature	hp	MSH:D009759|SNOMEDCT_US:95782001|UMLS:C0344243			http://purl.obolibrary.org/obo/HP_0012044	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247138002|UMLS:C0423414			http://purl.obolibrary.org/obo/HP_0012045	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	biolink:PhenotypicFeature	hp	UMLS:C2674177			http://purl.obolibrary.org/obo/HP_0012046	Inability to elicit tendon reflexes in the upper limbs.
HP:0012047	Hemeralopia	biolink:PhenotypicFeature	hp	MSH:D014786|SNOMEDCT_US:399323001|UMLS:C0018975		Day blindness	http://purl.obolibrary.org/obo/HP_0012047	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	biolink:PhenotypicFeature	hp	UMLS:C2242577		Cranial dystonia	http://purl.obolibrary.org/obo/HP_0012048	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3331000119108|UMLS:C1963946		Spasmodic dysphonia	http://purl.obolibrary.org/obo/HP_0012049	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	biolink:PhenotypicFeature	hp	MSH:D004487|SNOMEDCT_US:16740003|SNOMEDCT_US:442433009|UMLS:C0151603		Extreme generalized edema	http://purl.obolibrary.org/obo/HP_0012050	An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
HP:0012051	Reactive hypoglycemia	biolink:PhenotypicFeature	hp	MSH:D007003|SNOMEDCT_US:237638000|SNOMEDCT_US:317006|UMLS:C0271710		Low blood sugar after a meal|Postprandial hypoglycemia	http://purl.obolibrary.org/obo/HP_0012051	Hypoglycermia following a meal (or more generally, after intake of glucose).
HP:0012052	Low serum calcitriol	biolink:PhenotypicFeature	hp	UMLS:C4023065		Low serum 1,25-dihydroxycholecalciferol|Low serum 1,25-dihydroxyvitamin D3	http://purl.obolibrary.org/obo/HP_0012052	A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
HP:0012053	Low serum calcifediol	biolink:PhenotypicFeature	hp	UMLS:C4023064		Low serum 25-hydroxycholecalciferol|Low serum calcidiol	http://purl.obolibrary.org/obo/HP_0012053	A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.
HP:0012054	Choroidal melanoma	biolink:PhenotypicFeature	hp	NCIT:C3224|SNOMEDCT_US:255021005|UMLS:C0346388			http://purl.obolibrary.org/obo/HP_0012054	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	biolink:PhenotypicFeature	hp	NCIT:C3224|SNOMEDCT_US:255015006|UMLS:C0346379			http://purl.obolibrary.org/obo/HP_0012055	Malignant tumor of melanocytes of the ciliary body.
HP:0012056	Cutaneous melanoma	biolink:PhenotypicFeature	hp	MSH:D008545|NCIT:C3224|SNOMEDCT_US:2092003|SNOMEDCT_US:372244006|UMLS:C0025202			http://purl.obolibrary.org/obo/HP_0012056	The presence of a melanoma of the skin.
HP:0012057	Superficial spreading melanoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254730000|SNOMEDCT_US:55320002|UMLS:C0334438			http://purl.obolibrary.org/obo/HP_0012057	A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.
HP:0012058	Nodular melanoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:2142002|SNOMEDCT_US:254731001|UMLS:C0334424			http://purl.obolibrary.org/obo/HP_0012058	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:302837001|SNOMEDCT_US:44474009|UMLS:C2739810			http://purl.obolibrary.org/obo/HP_0012059	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16974005|SNOMEDCT_US:254732008|UMLS:C0346037			http://purl.obolibrary.org/obo/HP_0012060	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	biolink:PhenotypicFeature	hp	UMLS:C2673302		Increased urinary sialyloligosaccharides	http://purl.obolibrary.org/obo/HP_0012061	Excretion of oligosaccharides conjugated to sialic acid in the urine.
HP:0012062	Bone cyst	biolink:PhenotypicFeature	hp	MSH:D001845|SNOMEDCT_US:112643007|SNOMEDCT_US:203465002|SNOMEDCT_US:203467005|SNOMEDCT_US:66954000|UMLS:C0005937		Bone cyst|Bone cysts	http://purl.obolibrary.org/obo/HP_0012062	A fluid filled cavity that develops with a bone.
HP:0012063	Aneurysmal bone cyst	biolink:PhenotypicFeature	hp	MSH:D017824|SNOMEDCT_US:203468000|SNOMEDCT_US:76000001|UMLS:C0152244			http://purl.obolibrary.org/obo/HP_0012063	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:112643007|SNOMEDCT_US:203467005|UMLS:C4082185			http://purl.obolibrary.org/obo/HP_0012064	A benign fluid filled simple cyst of bone filled with serous fluid.
HP:0012065	Multiple bony cystic lesions	biolink:PhenotypicFeature	hp	UMLS:C4023063		Multiple bony cystic lesions	http://purl.obolibrary.org/obo/HP_0012065	Presence of multiple cystic changes in multiple areas or multiple bones.
HP:0012066	Increased urinary disaccharide excretion	biolink:PhenotypicFeature	hp	UMLS:C4023062			http://purl.obolibrary.org/obo/HP_0012066	Increased concentration of disaccharide in the urine.
HP:0012067	Glycopeptiduria	biolink:PhenotypicFeature	hp	UMLS:C4023061		High urine glycopeptide levels	http://purl.obolibrary.org/obo/HP_0012067	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	biolink:PhenotypicFeature	hp	MSH:D054880|SNOMEDCT_US:54954004|UMLS:C0268225		High urine aspartylglucosamine levels	http://purl.obolibrary.org/obo/HP_0012068	Excretion of excess amounts of aspartylglucosamine in the urine.
HP:0012069	Keratan sulfate excretion in urine	biolink:PhenotypicFeature	hp	UMLS:C4023060		Keratan sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0012069	An increased concentration of keratan sulfate in the urine.
HP:0012070	Chondroitin sulfate excretion in urine	biolink:PhenotypicFeature	hp	UMLS:C4023059		Chondroitin sulphate excretion in urine	http://purl.obolibrary.org/obo/HP_0012070	An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.
HP:0012071	Abnormal circulating acetylcarnitine concentration	biolink:PhenotypicFeature	hp	UMLS:C4020733|UMLS:C4023058		Abnormal circulating esterified carnitine concentration|Abnormal acetylcarnitine profile	http://purl.obolibrary.org/obo/HP_0012071	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21806007|UMLS:C0278026		Acidic urine	http://purl.obolibrary.org/obo/HP_0012072	Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.
HP:0012073	Abnormal urinary acylglycine profile	biolink:PhenotypicFeature	hp	UMLS:C4023057			http://purl.obolibrary.org/obo/HP_0012073	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	biolink:PhenotypicFeature	hp	MSH:D015845|SNOMEDCT_US:24225004|UMLS:C0040416	hposlim_core	Adie pupil|Adie's tonic pupil	http://purl.obolibrary.org/obo/HP_0012074	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	biolink:PhenotypicFeature	hp	ICD-10:F60|MSH:D010554|SNOMEDCT_US:33449004|UMLS:C0031212			http://purl.obolibrary.org/obo/HP_0012075	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	biolink:PhenotypicFeature	hp	ICD-10:F60.3|MSH:D001883|SNOMEDCT_US:20010003|UMLS:C0006012		BPD	http://purl.obolibrary.org/obo/HP_0012076	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	biolink:PhenotypicFeature	hp	ICD-10:F60.4|MSH:D006677|SNOMEDCT_US:55341008|UMLS:C0019681			http://purl.obolibrary.org/obo/HP_0012077	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	biolink:PhenotypicFeature	hp	UMLS:C4023056			http://purl.obolibrary.org/obo/HP_0012078	Blockade of impulses at a focal site along the course of a motor axon.
HP:0012079	Abnormality of central motor conduction	biolink:PhenotypicFeature	hp	UMLS:C4023055			http://purl.obolibrary.org/obo/HP_0012079	Any anomaly of the conduction of motor nerve impulses in the central nervous system.
HP:0012080	Cerebellar granular layer atrophy	biolink:PhenotypicFeature	hp	UMLS:C4023054			http://purl.obolibrary.org/obo/HP_0012080	Atrophy of the cerebellum affecting primarily the granular cell layer.
HP:0012081	Enlarged cerebellum	biolink:PhenotypicFeature	hp	UMLS:C3278024			http://purl.obolibrary.org/obo/HP_0012081	An abnormally increased size of the cerebellum compared to other brain structures.
HP:0012082	Cerebellar Purkinje layer atrophy	biolink:PhenotypicFeature	hp	UMLS:C4023053			http://purl.obolibrary.org/obo/HP_0012082	Atrophy of the cerebellum affecting primarily the Purkinje cell layer.
HP:0012083	Ubiquitin-positive cerebral inclusion bodies	biolink:PhenotypicFeature	hp	UMLS:C4023052			http://purl.obolibrary.org/obo/HP_0012083	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	biolink:PhenotypicFeature	hp	UMLS:C4023051		Abnormality of skeletal muscle fibre size	http://purl.obolibrary.org/obo/HP_0012084	Any abnormality of the size of the skeletal muscle cell.
HP:0012085	Pyuria	biolink:PhenotypicFeature	hp	MSH:D011776|SNOMEDCT_US:275765006|SNOMEDCT_US:4800001|UMLS:C0034359		High urine neutrophil count|Leukocyturia	http://purl.obolibrary.org/obo/HP_0012085	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102867009|SNOMEDCT_US:167239007|UMLS:C0522153		Abnormal urinary color|Abnormal urinary colour|Abnormal urine color	http://purl.obolibrary.org/obo/HP_0012086	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	biolink:PhenotypicFeature	hp	UMLS:C4023050			http://purl.obolibrary.org/obo/HP_0012087	An anomaly in the surface contour of mitochondria.
HP:0012088	Abnormal urinary odor	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8769003|UMLS:C0278045		Abnormal urinary odor|Abnormal urinary odour|Abnormal urine smell	http://purl.obolibrary.org/obo/HP_0012088	A deviation from the normal odor of the urine.
HP:0012089	Arteritis	biolink:PhenotypicFeature	hp	MSH:D001167|SNOMEDCT_US:52089001|UMLS:C0003860		Inflammation of artery	http://purl.obolibrary.org/obo/HP_0012089	Arterial inflammation.
HP:0012090	Abnormal pancreas morphology	biolink:PhenotypicFeature	hp	UMLS:C4023049		Abnormally shaped pancreas|Abnormality of pancreas morphology	http://purl.obolibrary.org/obo/HP_0012090	
HP:0012091	Abnormality of pancreas physiology	biolink:PhenotypicFeature	hp	UMLS:C4023048			http://purl.obolibrary.org/obo/HP_0012091	An anomaly of the function of the pancreas.
HP:0012092	Abnormality of exocrine pancreas physiology	biolink:PhenotypicFeature	hp	UMLS:C4021103		Abnormal exocrine pancreatic function	http://purl.obolibrary.org/obo/HP_0012092	A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.
HP:0012093	Abnormality of endocrine pancreas physiology	biolink:PhenotypicFeature	hp	UMLS:C4023047			http://purl.obolibrary.org/obo/HP_0012093	A function abnormality of the endocrine pancreas.
HP:0012094	Abnormal pancreas size	biolink:PhenotypicFeature	hp	UMLS:C4023046		Abnormal pancreas size	http://purl.obolibrary.org/obo/HP_0012094	A deviation from the normal size of the pancreas.
HP:0012095	Multiple joint dislocation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:287096003|SNOMEDCT_US:34277002|UMLS:C0332792		Multiple joint dislocations	http://purl.obolibrary.org/obo/HP_0012095	Dislocation of many joints.
HP:0012096	Intracranial epidermoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4023045			http://purl.obolibrary.org/obo/HP_0012096	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	biolink:PhenotypicFeature	hp	UMLS:C4023044			http://purl.obolibrary.org/obo/HP_0012097	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445124008|UMLS:C2919341		Oedema of the dorsum of feet|Edema of dorsum of feet	http://purl.obolibrary.org/obo/HP_0012098	An abnormal accumulation of fluid beneath the skin on the back of the feet.
HP:0012099	Abnormality of circulating catecholamine level	biolink:PhenotypicFeature	hp	UMLS:C4021102		Catecholamine levels abnormal	http://purl.obolibrary.org/obo/HP_0012099	An abnormal catecholamine concentration in the blood.
HP:0012100	Abnormal circulating creatinine concentration	biolink:PhenotypicFeature	hp	UMLS:C4021101		Abnormal blood creatinine level|Creatinine levels abnormal|Abnormal circulating creatinine level	http://purl.obolibrary.org/obo/HP_0012100	An abnormal concentration of creatinine in the blood.
HP:0012101	Decreased serum creatinine	biolink:PhenotypicFeature	hp	SNOMEDCT_US:166715006|UMLS:C0428282		Decreased serum creatinine|Low blood creatinine level|Reduced creatinine levels	http://purl.obolibrary.org/obo/HP_0012101	An abnormally reduced amount of creatinine in the blood.
HP:0012102	Abnormal mitochondrial number	biolink:PhenotypicFeature	hp	UMLS:C4023043			http://purl.obolibrary.org/obo/HP_0012102	A deviation from the normal number of mitochondria per cell.
HP:0012103	Abnormality of the mitochondrion	biolink:PhenotypicFeature	hp	UMLS:C4020732|UMLS:C4023042		Mitochondrial abnormalities	http://purl.obolibrary.org/obo/HP_0012103	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	biolink:PhenotypicFeature	hp	UMLS:C4023041			http://purl.obolibrary.org/obo/HP_0012104	Atrophy of the parietal cortex.
HP:0012105	Occipital cortical atrophy	biolink:PhenotypicFeature	hp	UMLS:C4023040			http://purl.obolibrary.org/obo/HP_0012105	Atrophy of the occipital cortex.
HP:0012106	Rhizomelic leg shortening	biolink:PhenotypicFeature	hp	UMLS:C4023039			http://purl.obolibrary.org/obo/HP_0012106	Disproportionate shortening of the proximal segment of the leg (i.e. the femur).
HP:0012107	Increased fibular diameter	biolink:PhenotypicFeature	hp	UMLS:C4021100		Wide calf bone|Thick fibula|Thick fibulae|Wide fibula	http://purl.obolibrary.org/obo/HP_0012107	Increased width of the cross sectional diameter of the fibula.
HP:0012108	Open angle glaucoma	biolink:PhenotypicFeature	hp	MSH:C562750|SNOMEDCT_US:77075001|UMLS:C0339573		Primary open angle glaucoma	http://purl.obolibrary.org/obo/HP_0012108	A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,
HP:0012109	Angle closure glaucoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:392288006|UMLS:C0017606		Primary angle closure glaucoma	http://purl.obolibrary.org/obo/HP_0012109	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	biolink:PhenotypicFeature	hp	UMLS:C1848529		Pontine hypoplasia	http://purl.obolibrary.org/obo/HP_0012110	Underdevelopment of the pons.
HP:0012111	Abnormality of circulating glucocorticoid level	biolink:PhenotypicFeature	hp	UMLS:C4023038			http://purl.obolibrary.org/obo/HP_0012111	An abnormality of the concentration of a glucocorticoid in the blood.
HP:0012112	Abnormal circulating corticosterone level	biolink:PhenotypicFeature	hp	UMLS:C4023037		Abnormality of circulating corticosterone level	http://purl.obolibrary.org/obo/HP_0012112	An abnormality of the concentration of corticosterone in the blood.
HP:0012113	Abnormal circulating creatine concentration	biolink:PhenotypicFeature	hp	UMLS:C4020731		Abnormality of creatine metabolism|Creatine metabolism abnormal	http://purl.obolibrary.org/obo/HP_0012113	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	biolink:PhenotypicFeature	hp	MSH:D016889|SNOMEDCT_US:254878006|UMLS:C0476089			http://purl.obolibrary.org/obo/HP_0012114	A carcinoma of the endometrium, the mucous lining of the uterus.
HP:0012115	Hepatitis	biolink:PhenotypicFeature	hp	MSH:D006505|SNOMEDCT_US:128241005|UMLS:C0019158		Liver inflammation	http://purl.obolibrary.org/obo/HP_0012115	Inflammation of the liver.
HP:0012116	Abnormal circulating albumin concentration	biolink:PhenotypicFeature	hp	UMLS:C4023036		Abnormal albumin level	http://purl.obolibrary.org/obo/HP_0012116	Deviation from normal concentration of albumin in the blood.
HP:0012117	Hyperalbuminemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:119248009|UMLS:C1142113		High albumin|High blood albumin levels|Hyperalbuminaemia	http://purl.obolibrary.org/obo/HP_0012117	Elevation in the concentration of albumin in the blood.
HP:0012118	Laryngeal carcinoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276975007|UMLS:C0595989		Cancer of the larynx|Laryngeal cancer	http://purl.obolibrary.org/obo/HP_0012118	A carcinoma of the larynx.
HP:0012119	Methemoglobinemia	biolink:PhenotypicFeature	hp	MSH:D008708|SNOMEDCT_US:131171006|SNOMEDCT_US:38959009|UMLS:C0025637			http://purl.obolibrary.org/obo/HP_0012119	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	biolink:PhenotypicFeature	hp	MSH:C537358|UMLS:C1855119		High blood methylmalonic acid levels|Methymalonicaciduria	http://purl.obolibrary.org/obo/HP_0012120	Increased concentration of methylmalonic acid in the urine.
HP:0012121	Panuveitis	biolink:PhenotypicFeature	hp	MSH:D015864|SNOMEDCT_US:75614007|UMLS:C0030343			http://purl.obolibrary.org/obo/HP_0012121	Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.
HP:0012122	Anterior uveitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:4927003|UMLS:C0701807			http://purl.obolibrary.org/obo/HP_0012122	Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.
HP:0012123	Posterior uveitis	biolink:PhenotypicFeature	hp	MSH:D002833|MSH:D015866|SNOMEDCT_US:16553002|SNOMEDCT_US:43363007|UMLS:C0008526|UMLS:C0042167		Choroiditis	http://purl.obolibrary.org/obo/HP_0012123	Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.
HP:0012124	Intermediate uveitis	biolink:PhenotypicFeature	hp	MSH:D015867|SNOMEDCT_US:314429009|UMLS:C0042166			http://purl.obolibrary.org/obo/HP_0012124	Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.
HP:0012125	Prostate cancer	biolink:PhenotypicFeature	hp	MSH:D011471|SNOMEDCT_US:399068003|UMLS:C0376358		Prostatic cancer	http://purl.obolibrary.org/obo/HP_0012125	A cancer of the prostate.
HP:0012126	Stomach cancer	biolink:PhenotypicFeature	hp	SNOMEDCT_US:372143007|UMLS:C0699791		Gastric cancer	http://purl.obolibrary.org/obo/HP_0012126	A cancer arising in any part of the stomach.
HP:0012127	Uraciluria	biolink:PhenotypicFeature	hp	UMLS:C4021833		High urine uracil levels	http://purl.obolibrary.org/obo/HP_0012127	Increased concentration of uracil in the urine.
HP:0012128	Basal ganglia necrosis	biolink:PhenotypicFeature	hp	UMLS:C4023035			http://purl.obolibrary.org/obo/HP_0012128	Death of cells in the basal ganglia.
HP:0012129	Abnormality of bone marrow stromal cells	biolink:PhenotypicFeature	hp	UMLS:C4023034			http://purl.obolibrary.org/obo/HP_0012129	
HP:0012130	Abnormal erythroid lineage cell morphology	biolink:PhenotypicFeature	hp	UMLS:C4020862		Abnormality of cells of the erythroid lineage	http://purl.obolibrary.org/obo/HP_0012130	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	biolink:PhenotypicFeature	hp	UMLS:C4023033			http://purl.obolibrary.org/obo/HP_0012131	A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
HP:0012132	Erythroid hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C0014800|UMLS:C1838111|UMLS:C3552917		Bone marrow biopsy shows erythroid hyperplasia|Bone marrow smear shows erythroid hyperplasia	http://purl.obolibrary.org/obo/HP_0012132	Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
HP:0012133	Erythroid hypoplasia	biolink:PhenotypicFeature	hp	MSH:D000741|SNOMEDCT_US:167923006|SNOMEDCT_US:41614006|UMLS:C0178416|UMLS:C0542035		Erythroblastopenia|Erythroid hypoplasia in the bone marrow	http://purl.obolibrary.org/obo/HP_0012133	Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
HP:0012134	Dysplastic erythropoesis	biolink:PhenotypicFeature	hp	UMLS:C4023032			http://purl.obolibrary.org/obo/HP_0012134	
HP:0012135	Abnormal granulocytopoietic cell morphology	biolink:PhenotypicFeature	hp	UMLS:C4023031		Abnormality of cells of the granulocytic lineage	http://purl.obolibrary.org/obo/HP_0012135	An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.
HP:0012136	Dysplastic granulopoesis	biolink:PhenotypicFeature	hp	UMLS:C4023030			http://purl.obolibrary.org/obo/HP_0012136	
HP:0012137	Abnormal number of granulocyte precursors	biolink:PhenotypicFeature	hp	UMLS:C4023029			http://purl.obolibrary.org/obo/HP_0012137	
HP:0012138	Granulocytic hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C4023028			http://purl.obolibrary.org/obo/HP_0012138	
HP:0012139	Granulocytic hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:416627004|UMLS:C1534864			http://purl.obolibrary.org/obo/HP_0012139	Decreased number of granulocyte precursors in the bone marrow.
HP:0012140	obsolete Abnormality of cells of the lymphoid lineage	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0012140	
HP:0012142	Pancreatic squamous cell carcinoma	biolink:PhenotypicFeature	hp	UMLS:C2675993		Squamous cell carcinoma of the pancreas	http://purl.obolibrary.org/obo/HP_0012142	A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.
HP:0012143	Abnormal megakaryocyte morphology	biolink:PhenotypicFeature	hp	UMLS:C4023026		Abnormality of cells of the megakaryocyte lineage	http://purl.obolibrary.org/obo/HP_0012143	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	biolink:PhenotypicFeature	hp	UMLS:C4023025			http://purl.obolibrary.org/obo/HP_0012144	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	biolink:PhenotypicFeature	hp	UMLS:C4023024			http://purl.obolibrary.org/obo/HP_0012145	
HP:0012146	Abnormality of von Willebrand factor	biolink:PhenotypicFeature	hp	UMLS:C4023023			http://purl.obolibrary.org/obo/HP_0012146	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	biolink:PhenotypicFeature	hp	UMLS:C1841816|UMLS:C4023022		Decreased von Willebrand factor	http://purl.obolibrary.org/obo/HP_0012147	Decreased quantity of von Willebrand factor.
HP:0012148	Multiple lineage myelodysplasia	biolink:PhenotypicFeature	hp	UMLS:C4023021			http://purl.obolibrary.org/obo/HP_0012148	Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.
HP:0012149	Bilineage myelodysplasia	biolink:PhenotypicFeature	hp	UMLS:C4023020			http://purl.obolibrary.org/obo/HP_0012149	Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.
HP:0012150	Single lineage myelodysplasia	biolink:PhenotypicFeature	hp	UMLS:C4023019			http://purl.obolibrary.org/obo/HP_0012150	Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).
HP:0012151	Hemothorax	biolink:PhenotypicFeature	hp	MSH:D006491|SNOMEDCT_US:31892009|UMLS:C0019123			http://purl.obolibrary.org/obo/HP_0012151	The presence of blood in the pleural space.
HP:0012152	Foveoschisis	biolink:PhenotypicFeature	hp	UMLS:C2674407		Retinoschisis involving the fovea	http://purl.obolibrary.org/obo/HP_0012152	Splitting of the retinal layers in the macula.
HP:0012153	Hypotriglyceridemia	biolink:PhenotypicFeature	hp	UMLS:C0542037		Decreased circulating Tg levels|Decreased plasma Tg levels|Low blood triglyceride levels	http://purl.obolibrary.org/obo/HP_0012153	An decrease in the level of triglycerides in the blood.
HP:0012154	Anhedonia	biolink:PhenotypicFeature	hp	MSH:D059445|SNOMEDCT_US:247796005|SNOMEDCT_US:28669007|UMLS:C0178417			http://purl.obolibrary.org/obo/HP_0012154	Inability to experience pleasure activities usually found enjoyable.
HP:0012155	Decreased corneal sensation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:373433005|UMLS:C0271292|UMLS:C0859996		Corneal hypaesthesia|Corneal hypesthesia|Reduced corneal sensation|Decreased corneal sensitivity	http://purl.obolibrary.org/obo/HP_0012155	Reduced ability of the cornea to respond to stimulation.
HP:0012156	Hemophagocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:61070002|UMLS:C0876991			http://purl.obolibrary.org/obo/HP_0012156	Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
HP:0012157	Subcortical cerebral atrophy	biolink:PhenotypicFeature	hp	UMLS:C4023018			http://purl.obolibrary.org/obo/HP_0012157	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	biolink:PhenotypicFeature	hp	UMLS:C0338585			http://purl.obolibrary.org/obo/HP_0012158	A separation (dissection) of the layers of the carotid artery wall.
HP:0012159	Internal carotid artery dissection	biolink:PhenotypicFeature	hp	MSH:D020215|SNOMEDCT_US:705066004|UMLS:C0751815			http://purl.obolibrary.org/obo/HP_0012159	A separation (dissection) of the layers of the internal carotid artery wall.
HP:0012160	Intracranial internal carotid artery dissection	biolink:PhenotypicFeature	hp	UMLS:C4023017			http://purl.obolibrary.org/obo/HP_0012160	A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.
HP:0012161	External carotid artery dissection	biolink:PhenotypicFeature	hp	UMLS:C4023016			http://purl.obolibrary.org/obo/HP_0012161	A separation (dissection) of the layers of the external carotid artery wall.
HP:0012162	Common carotid artery dissection	biolink:PhenotypicFeature	hp	UMLS:C4023015			http://purl.obolibrary.org/obo/HP_0012162	A separation (dissection) of the layers of the common carotid artery wall.
HP:0012163	Carotid artery dilatation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:233988005|UMLS:C0340639		Carotid artery aneurysm	http://purl.obolibrary.org/obo/HP_0012163	A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.
HP:0012164	Asterixis	biolink:PhenotypicFeature	hp	MSH:D020820|SNOMEDCT_US:32838008|UMLS:C0232766			http://purl.obolibrary.org/obo/HP_0012164	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	biolink:PhenotypicFeature	hp	UMLS:C3887496			http://purl.obolibrary.org/obo/HP_0012165	A developmental defect resulting in the presence of fewer than the normal number of digits.
HP:0012166	Skin-picking	biolink:PhenotypicFeature	hp	ICD-10:F63.3|UMLS:C1696701		Compulsive skin picking|Dermatillomania	http://purl.obolibrary.org/obo/HP_0012166	Repetitive and compulsive picking of skin which results in tissue damage.
HP:0012167	Hair-pulling	biolink:PhenotypicFeature	hp	MSH:D014256|SNOMEDCT_US:17155009|UMLS:C0040953		Trichotillomania	http://purl.obolibrary.org/obo/HP_0012167	A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.
HP:0012168	Head-banging	biolink:PhenotypicFeature	hp	MSH:D019956|SNOMEDCT_US:43954004|UMLS:C0018672		Head-banging	http://purl.obolibrary.org/obo/HP_0012168	Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
HP:0012169	Self-biting	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248072009|UMLS:C0424375			http://purl.obolibrary.org/obo/HP_0012169	Habitual biting of one's own body.
HP:0012170	Nail-biting	biolink:PhenotypicFeature	hp	ICD-10:F98.8|MSH:D009259|SNOMEDCT_US:37298006|UMLS:C0027338		Nail-biting|Onychophagia|Onychophagy	http://purl.obolibrary.org/obo/HP_0012170	Habitual biting of one's own fingernails.
HP:0012171	Stereotypical hand wringing	biolink:PhenotypicFeature	hp	UMLS:C4023014			http://purl.obolibrary.org/obo/HP_0012171	Habitual clasping and squeezing of the hands.
HP:0012172	Stereotypical body rocking	biolink:PhenotypicFeature	hp	UMLS:C4023013			http://purl.obolibrary.org/obo/HP_0012172	Habitual repetitive movement of the body.
HP:0012173	Orthostatic tachycardia	biolink:PhenotypicFeature	hp	UMLS:C4021099		Postural tachycardia	http://purl.obolibrary.org/obo/HP_0012173	An increase in heart rate with standing of 30 beats per minute or more.
HP:0012174	Glioblastoma multiforme	biolink:PhenotypicFeature	hp	MSH:D005909|SNOMEDCT_US:393563007|SNOMEDCT_US:63634009|UMLS:C1621958		Glioblastoma	http://purl.obolibrary.org/obo/HP_0012174	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	biolink:PhenotypicFeature	hp	MSH:D020016|SNOMEDCT_US:421527008|UMLS:C0600433		Activated protein C resistance	http://purl.obolibrary.org/obo/HP_0012175	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	biolink:PhenotypicFeature	hp	UMLS:C4021098		Abnormal NK cells|Abnormality of natural killer cells	http://purl.obolibrary.org/obo/HP_0012176	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	biolink:PhenotypicFeature	hp	UMLS:C4023012			http://purl.obolibrary.org/obo/HP_0012177	A functional anomaly of the natural killer cell.
HP:0012178	Reduced natural killer cell activity	biolink:PhenotypicFeature	hp	UMLS:C1839969			http://purl.obolibrary.org/obo/HP_0012178	Reduced ability of the natural killer cell to function in the adaptive immune response.
HP:0012179	Craniofacial dystonia	biolink:PhenotypicFeature	hp	UMLS:C1851915|UMLS:C4023011|UMLS:C4072883		Abnormal craniofacial posture|Distorted craniofacial posture|Abnormal craniofacial muscle tone|Abnormal facial muscle tone|Facial Dystonia	http://purl.obolibrary.org/obo/HP_0012179	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	biolink:PhenotypicFeature	hp	MSH:C536230|SNOMEDCT_US:234021009|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|UMLS:C0392775		Arterial cystic medial necrosis	http://purl.obolibrary.org/obo/HP_0012180	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	biolink:PhenotypicFeature	hp	MSH:D009408|SNOMEDCT_US:45781009|UMLS:C1510429			http://purl.obolibrary.org/obo/HP_0012181	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:423464009|SNOMEDCT_US:707585008|UMLS:C0280313			http://purl.obolibrary.org/obo/HP_0012182	A squamous cell carcinoma that originates in the oropharnyx.
HP:0012183	Hyperplastic colonic polyposis	biolink:PhenotypicFeature	hp	UMLS:C4023010			http://purl.obolibrary.org/obo/HP_0012183	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	biolink:PhenotypicFeature	hp	MSH:C564591|SNOMEDCT_US:238080004|UMLS:C0342883		High blood HDL level|Hyperalphalipoproteinemia|Increased circulating high-density lipoprotein levels	http://purl.obolibrary.org/obo/HP_0012184	An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
HP:0012185	Constrictive median neuropathy	biolink:PhenotypicFeature	hp	UMLS:C4023009		Carpal tunnel syndrome	http://purl.obolibrary.org/obo/HP_0012185	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	biolink:PhenotypicFeature	hp	UMLS:C4023008			http://purl.obolibrary.org/obo/HP_0012186	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	biolink:PhenotypicFeature	hp	UMLS:C4023007			http://purl.obolibrary.org/obo/HP_0012187	An increased concentration of protoporphyrins in erythrocytes.
HP:0012188	Hyperemesis gravidarum	biolink:PhenotypicFeature	hp	MSH:D006939|SNOMEDCT_US:14094001|UMLS:C0020450			http://purl.obolibrary.org/obo/HP_0012188	Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.
HP:0012189	Hodgkin lymphoma	biolink:PhenotypicFeature	hp	MSH:D006689|SNOMEDCT_US:118599009|SNOMEDCT_US:118602004|SNOMEDCT_US:118605002|SNOMEDCT_US:118606001|SNOMEDCT_US:14537002|SNOMEDCT_US:46923007|SNOMEDCT_US:70600005|SNOMEDCT_US:74189002|UMLS:C0019829		Hodgkin disease|Hodgkin's lymphoma	http://purl.obolibrary.org/obo/HP_0012189	A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.
HP:0012190	T-cell lymphoma	biolink:PhenotypicFeature	hp	MSH:D016399|SNOMEDCT_US:109978004|SNOMEDCT_US:3172003|UMLS:C0079772		T cell lymphoma	http://purl.obolibrary.org/obo/HP_0012190	A type of lymphoma that originates in T-cells.
HP:0012191	B-cell lymphoma	biolink:PhenotypicFeature	hp	MSH:D016393|SNOMEDCT_US:109979007|SNOMEDCT_US:1929004|SNOMEDCT_US:413616009|UMLS:C0079731		B cell lymphoma	http://purl.obolibrary.org/obo/HP_0012191	A type of lymphoma that originates in B-cells.
HP:0012192	Cutaneous T-cell lymphoma	biolink:PhenotypicFeature	hp	MSH:D016410|SNOMEDCT_US:28054005|SNOMEDCT_US:400122007|UMLS:C0079773			http://purl.obolibrary.org/obo/HP_0012192	A type of T-cell lymphoma that exhibits malignant infiltration of the skin.
HP:0012193	Anaplastic large-cell lymphoma	biolink:PhenotypicFeature	hp	MSH:D017728|SNOMEDCT_US:277637000|SNOMEDCT_US:53237008|UMLS:C0206180			http://purl.obolibrary.org/obo/HP_0012193	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	biolink:PhenotypicFeature	hp	UMLS:C1863061			http://purl.obolibrary.org/obo/HP_0012194	Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.
HP:0012195	Irregular respiration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248585001|UMLS:C0425492		Irregular respiratory rhythm	http://purl.obolibrary.org/obo/HP_0012195	Uneven rhythm of breathing.
HP:0012196	Cheyne-Stokes respiration	biolink:PhenotypicFeature	hp	MSH:D002639|SNOMEDCT_US:271824009|SNOMEDCT_US:309155007|UMLS:C0008039|UMLS:C1313952		Cheyne-Stokes breathing|Periodic respiration	http://purl.obolibrary.org/obo/HP_0012196	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	biolink:PhenotypicFeature	hp	MSH:D007340|SNOMEDCT_US:25324008|SNOMEDCT_US:302822000|UMLS:C0021670		Pancreatic insulinoma	http://purl.obolibrary.org/obo/HP_0012197	A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
HP:0012198	Juvenile colonic polyposis	biolink:PhenotypicFeature	hp	UMLS:C4023006			http://purl.obolibrary.org/obo/HP_0012198	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	biolink:PhenotypicFeature	hp	ICD-10:G44.0|MSH:D003027|SNOMEDCT_US:193031009|SNOMEDCT_US:193947008|SNOMEDCT_US:230473009|UMLS:C0009088			http://purl.obolibrary.org/obo/HP_0012199	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	biolink:PhenotypicFeature	hp	UMLS:C4023005			http://purl.obolibrary.org/obo/HP_0012200	An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.
HP:0012201	obsolete Reduced prothrombin activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0012201	
HP:0012202	Increased serum bile acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4023004			http://purl.obolibrary.org/obo/HP_0012202	An increase in the concentration of bile acid in the blood.
HP:0012203	Onychomycosis	biolink:PhenotypicFeature	hp	MSH:D014009|SNOMEDCT_US:414941008|UMLS:C0040261			http://purl.obolibrary.org/obo/HP_0012203	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	biolink:PhenotypicFeature	hp	UMLS:C4023003			http://purl.obolibrary.org/obo/HP_0012204	Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.
HP:0012205	Globozoospermia	biolink:PhenotypicFeature	hp	MSH:D000072660|SNOMEDCT_US:236818008|UMLS:C0403825			http://purl.obolibrary.org/obo/HP_0012205	Any structural anomaly of the acrosome resulting in a round sperm head.
HP:0012206	Abnormal sperm motility	biolink:PhenotypicFeature	hp	UMLS:C0855512		Abnormal sperm motility	http://purl.obolibrary.org/obo/HP_0012206	An anomaly of the mobility of ejaculated sperm.
HP:0012207	Reduced sperm motility	biolink:PhenotypicFeature	hp	UMLS:C4023002		Reduced sperm motility|Asthenospermia	http://purl.obolibrary.org/obo/HP_0012207	An abnormal reduction in the mobility of ejaculated sperm.
HP:0012208	Immotile sperm	biolink:PhenotypicFeature	hp	UMLS:C4023001		Nonmotile sperm	http://purl.obolibrary.org/obo/HP_0012208	A lack of mobility of ejaculated sperm.
HP:0012209	Juvenile myelomonocytic leukemia	biolink:PhenotypicFeature	hp	MSH:D054429|SNOMEDCT_US:128832006|SNOMEDCT_US:277587001|SNOMEDCT_US:445227008|UMLS:C0349639		Juvenile myelomonocytic leukaemia	http://purl.obolibrary.org/obo/HP_0012209	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	biolink:PhenotypicFeature	hp	Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292		Abnormally shaped kidney|Kidney malformation|Kidney structure issue|Structural kidney abnormalities|Abnormal kidney morphology|Renal malformation|Structural anomalies of the renal tract|Structural renal anomalies	http://purl.obolibrary.org/obo/HP_0012210	Any structural anomaly of the kidney.
HP:0012211	Abnormal renal physiology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39539005|UMLS:C0151746		Abnormal kidney function|Kidney function issue|Abnormal renal function|Abnormality of renal physiology|Renal functional abnormality	http://purl.obolibrary.org/obo/HP_0012211	An abnormal functionality of the kidney.
HP:0012212	Abnormal glomerular filtration rate	biolink:PhenotypicFeature	hp	UMLS:C0854050		Abnormal GFR	http://purl.obolibrary.org/obo/HP_0012212	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	biolink:PhenotypicFeature	hp	UMLS:C0853068		Decreased GFR|Impaired renal creatinine clearance|Reduced creatinine clearance	http://purl.obolibrary.org/obo/HP_0012213	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	biolink:PhenotypicFeature	hp	UMLS:C0856948		Increased GFR	http://purl.obolibrary.org/obo/HP_0012214	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	biolink:PhenotypicFeature	hp	MSH:C566478|SNOMEDCT_US:117261000119108|UMLS:C1864873			http://purl.obolibrary.org/obo/HP_0012215	The deposition of calcium phosphate microliths within the seminiferous tubules.
HP:0012216	Entrapment neuropathy of suprascapular nerve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:230635000|UMLS:C0393890		Suprascapular nerve entrapment	http://purl.obolibrary.org/obo/HP_0012216	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	biolink:PhenotypicFeature	hp	UMLS:C4023000			http://purl.obolibrary.org/obo/HP_0012217	Increased concentration of porphobilinogen in the urine.
HP:0012218	Alveolar soft part sarcoma	biolink:PhenotypicFeature	hp	MSH:D018234|SNOMEDCT_US:404056007|SNOMEDCT_US:88195001|UMLS:C0206657			http://purl.obolibrary.org/obo/HP_0012218	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	biolink:PhenotypicFeature	hp	MSH:D004893|SNOMEDCT_US:32861005|UMLS:C0014743			http://purl.obolibrary.org/obo/HP_0012219	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	biolink:PhenotypicFeature	hp	UMLS:C4022999			http://purl.obolibrary.org/obo/HP_0012220	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	biolink:PhenotypicFeature	hp	MSH:C535494|SNOMEDCT_US:67653003|UMLS:C0432321		Pretibial epidermolysis bullosa	http://purl.obolibrary.org/obo/HP_0012221	A type of blistering that affects the skin of the tibial region.
HP:0012222	Arachnoid hemangiomatosis	biolink:PhenotypicFeature	hp	UMLS:C4022998			http://purl.obolibrary.org/obo/HP_0012222	The presence of multiple hemangiomas in the arachnoid.
HP:0012223	Splenic rupture	biolink:PhenotypicFeature	hp	MSH:D013161|SNOMEDCT_US:234506007|UMLS:C0038000		Ruptured spleen|Splenic rupture	http://purl.obolibrary.org/obo/HP_0012223	A breach of the capsule of the spleen.
HP:0012224	Circulating immune complexes	biolink:PhenotypicFeature	hp	UMLS:C3887628			http://purl.obolibrary.org/obo/HP_0012224	Persistence of immune complexes in the blood circulation.
HP:0012225	Oligodontia of primary teeth	biolink:PhenotypicFeature	hp	UMLS:C4022997|UMLS:C4280316		Decreased number of baby teeth|Decreased number of milk teeth|Fewer baby teeth than normal|Missing some baby teeth|Missing some milk teeth|Missing some primary teeth|Failure of development of some deciduous teeth|Failure of development of some primary teeth|Partial anodontia of deciduous teeth|Partial anodontia of primary teeth|Decreased number of deciduous teeth|Decreased number of primary teeth|Fewer deciduous teeth than normal|Fewer primary teeth than normal	http://purl.obolibrary.org/obo/HP_0012225	Reduced number of primary teeth.
HP:0012226	Ovarian teratoma	biolink:PhenotypicFeature	hp	NCIT:C3403|SNOMEDCT_US:716077006|UMLS:C0280131			http://purl.obolibrary.org/obo/HP_0012226	The presence of a teratoma in the ovary.
HP:0012227	Urethral stricture	biolink:PhenotypicFeature	hp	MSH:D014525|SNOMEDCT_US:236647003|SNOMEDCT_US:76618002|UMLS:C0041974			http://purl.obolibrary.org/obo/HP_0012227	Narrowing of the urethra associated with inflammation or scar tissue.
HP:0012228	Tension-type headache	biolink:PhenotypicFeature	hp	ICD-10:G44.2|MSH:D018781|SNOMEDCT_US:398057008|SNOMEDCT_US:66551002|UMLS:C0033893		Tension-type headache	http://purl.obolibrary.org/obo/HP_0012228	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	biolink:PhenotypicFeature	hp	MSH:D007964|SNOMEDCT_US:91454002|UMLS:C0151857		Cerebrospinal fluid pleocytosis|Increased leukocyte count in CSF	http://purl.obolibrary.org/obo/HP_0012229	An increased white blood cell count in the cerebrospinal fluid.
HP:0012230	Rhegmatogenous retinal detachment	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19620000|UMLS:C0271055			http://purl.obolibrary.org/obo/HP_0012230	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:38599001|UMLS:C0154822		Serous retinal detachment	http://purl.obolibrary.org/obo/HP_0012231	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77867006|UMLS:C0151879			http://purl.obolibrary.org/obo/HP_0012232	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:262969000|UMLS:C0240412		IM hematoma|Intramuscular haematoma|Intramuscular hemorrhage|Intramuscular hematomas	http://purl.obolibrary.org/obo/HP_0012233	Blood clot formed within muscle tissue following leakage of blood into the tissue.
HP:0012234	Agranulocytosis	biolink:PhenotypicFeature	hp	UMLS:C0702094			http://purl.obolibrary.org/obo/HP_0012234	Marked decrease in the number of granulocytes.
HP:0012235	Drug-induced agranulocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:47318007|UMLS:C0272178			http://purl.obolibrary.org/obo/HP_0012235	A type of agranulocytosis related to ingestion of a specific medication.
HP:0012236	Elevated sweat chloride	biolink:PhenotypicFeature	hp	UMLS:C1856646		Elevated sweat Cl|Elevated sweat Cl-|Elevated sweat chloride	http://purl.obolibrary.org/obo/HP_0012236	An increased concentration of chloride in the sweat.
HP:0012237	Urocanic aciduria	biolink:PhenotypicFeature	hp	MSH:C536479|SNOMEDCT_US:60952007|UMLS:C0268514		High urine urocanic acid levels	http://purl.obolibrary.org/obo/HP_0012237	An increased concentration of urocanic acid in the urine.
HP:0012238	Increased circulating chylomicron concentration	biolink:PhenotypicFeature	hp	UMLS:C1535978		Hyperchylomicronemia|Increased chylomicrons|Increased circulating chylomicron levels	http://purl.obolibrary.org/obo/HP_0012238	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	biolink:PhenotypicFeature	hp	MSH:C538259|SNOMEDCT_US:111571009|UMLS:C0521802			http://purl.obolibrary.org/obo/HP_0012239	Absence of transferrin, a protein that transports iron, in the blood.
HP:0012240	Increased intramyocellular lipid droplets	biolink:PhenotypicFeature	hp	UMLS:C4020730		Increased muscle lipid droplets	http://purl.obolibrary.org/obo/HP_0012240	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	biolink:PhenotypicFeature	hp	UMLS:C1851107			http://purl.obolibrary.org/obo/HP_0012241	Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.
HP:0012242	Superior rectus atrophy	biolink:PhenotypicFeature	hp	UMLS:C1851108		Rectus superior atrophy	http://purl.obolibrary.org/obo/HP_0012242	Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.
HP:0012243	Abnormal reproductive system morphology	biolink:PhenotypicFeature	hp	UMLS:C4021096		Abnormal genital system morphology	http://purl.obolibrary.org/obo/HP_0012243	A structural or developmental anomaly of any of the tissues involved in the genital system.
HP:0012244	Abnormal sex determination	biolink:PhenotypicFeature	hp	UMLS:C4022996			http://purl.obolibrary.org/obo/HP_0012244	Anomaly of primary or secondary sexual development or characteristics.
HP:0012245	Sex reversal	biolink:PhenotypicFeature	hp	UMLS:C4022995			http://purl.obolibrary.org/obo/HP_0012245	Development of the reproductive system is inconsistent with the chromosomal sex.
HP:0012246	Oculomotor nerve palsy	biolink:PhenotypicFeature	hp	MSH:D015840|SNOMEDCT_US:388980004|UMLS:C0028866		Oculomotor neuropathy	http://purl.obolibrary.org/obo/HP_0012246	Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).
HP:0012247	Specific anosmia	biolink:PhenotypicFeature	hp	UMLS:C4022994			http://purl.obolibrary.org/obo/HP_0012247	Anosmia for one particular odor.
HP:0012248	Prolonged PR interval	biolink:PhenotypicFeature	hp	SNOMEDCT_US:164947007|UMLS:C0600125		Electrocardiographic long PR interval|Lengthened PR interval on EKG	http://purl.obolibrary.org/obo/HP_0012248	Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
HP:0012249	Abnormal ST segment	biolink:PhenotypicFeature	hp	UMLS:C4022993			http://purl.obolibrary.org/obo/HP_0012249	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26141007|SNOMEDCT_US:429622005|UMLS:C0520887			http://purl.obolibrary.org/obo/HP_0012250	An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.
HP:0012251	ST segment elevation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:164931005|SNOMEDCT_US:76388001|UMLS:C0520886			http://purl.obolibrary.org/obo/HP_0012251	An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.
HP:0012252	Abnormal respiratory system morphology	biolink:PhenotypicFeature	hp	Fyler:4235|UMLS:C4022992			http://purl.obolibrary.org/obo/HP_0012252	A structural anomaly of the respiratory system.
HP:0012253	Abnormal respiratory epithelium morphology	biolink:PhenotypicFeature	hp	UMLS:C4022991			http://purl.obolibrary.org/obo/HP_0012253	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	biolink:PhenotypicFeature	hp	MSH:D012512|SNOMEDCT_US:76909002|UMLS:C0553580		Ewing sarcoma|Ewing's sarcoma	http://purl.obolibrary.org/obo/HP_0012254	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	biolink:PhenotypicFeature	hp	UMLS:C4022990			http://purl.obolibrary.org/obo/HP_0012255	An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.
HP:0012256	Absent outer dynein arms	biolink:PhenotypicFeature	hp	UMLS:C4022989			http://purl.obolibrary.org/obo/HP_0012256	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	biolink:PhenotypicFeature	hp	UMLS:C4022988			http://purl.obolibrary.org/obo/HP_0012257	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	biolink:PhenotypicFeature	hp	UMLS:C4022987		Abnormal axonemal organisation of respiratory motile cilia	http://purl.obolibrary.org/obo/HP_0012258	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	biolink:PhenotypicFeature	hp	UMLS:C4022986			http://purl.obolibrary.org/obo/HP_0012259	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	biolink:PhenotypicFeature	hp	UMLS:C4022985			http://purl.obolibrary.org/obo/HP_0012260	A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
HP:0012261	Abnormal respiratory motile cilium physiology	biolink:PhenotypicFeature	hp	UMLS:C4022984			http://purl.obolibrary.org/obo/HP_0012261	Any functional anomaly of the respiratory motile cilia.
HP:0012262	Abnormal ciliary motility	biolink:PhenotypicFeature	hp	UMLS:C4022983			http://purl.obolibrary.org/obo/HP_0012262	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	biolink:PhenotypicFeature	hp	UMLS:C1855672			http://purl.obolibrary.org/obo/HP_0012263	
HP:0012264	Absent central microtubular pair morphology of respiratory motile cilia	biolink:PhenotypicFeature	hp	UMLS:C4022982			http://purl.obolibrary.org/obo/HP_0012264	Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
HP:0012265	Ciliary dyskinesia	biolink:PhenotypicFeature	hp	MSH:D002925|SNOMEDCT_US:86204009|UMLS:C0008780			http://purl.obolibrary.org/obo/HP_0012265	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:428550008|UMLS:C1998313			http://purl.obolibrary.org/obo/HP_0012266	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	biolink:PhenotypicFeature	hp	UMLS:C4022981			http://purl.obolibrary.org/obo/HP_0012267	Absence of the radial spokes of the axoneme of the respiratory cilium.
HP:0012268	Myxoid liposarcoma	biolink:PhenotypicFeature	hp	MSH:D018208|SNOMEDCT_US:27849002|SNOMEDCT_US:404069006|UMLS:C0206634			http://purl.obolibrary.org/obo/HP_0012268	A liposarcoma that contains myxomatous tissue.
HP:0012269	Abnormal muscle glycogen content	biolink:PhenotypicFeature	hp	UMLS:C4022980			http://purl.obolibrary.org/obo/HP_0012269	Any anomaly in the amount of glycogen in muscle tissue.
HP:0012270	Decreased muscle glycogen content	biolink:PhenotypicFeature	hp	UMLS:C4022979			http://purl.obolibrary.org/obo/HP_0012270	A decreased amount of glycogen in muscle tissue.
HP:0012271	Episodic upper airway obstruction	biolink:PhenotypicFeature	hp	UMLS:C4022978			http://purl.obolibrary.org/obo/HP_0012271	Intermittent episodes of increased resistance to the passage of air in the upper airway.
HP:0012272	J wave	biolink:PhenotypicFeature	hp	UMLS:C4018858		EKG J waves|Osborne waves	http://purl.obolibrary.org/obo/HP_0012272	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	biolink:PhenotypicFeature	hp	UMLS:C4022977			http://purl.obolibrary.org/obo/HP_0012273	An increase in the combined thickness of the intima and media of the carotid artery.
HP:0012274	Autosomal dominant inheritance with paternal imprinting	biolink:PhenotypicFeature	hp	UMLS:C4022976			http://purl.obolibrary.org/obo/HP_0012274	A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.
HP:0012275	Autosomal dominant inheritance with maternal imprinting	biolink:PhenotypicFeature	hp	UMLS:C4022975			http://purl.obolibrary.org/obo/HP_0012275	A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.
HP:0012276	Digital flexor tenosynovitis	biolink:PhenotypicFeature	hp	UMLS:C4022974		Trigger finger	http://purl.obolibrary.org/obo/HP_0012276	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	biolink:PhenotypicFeature	hp	UMLS:C4022973		Low blood glycine levels	http://purl.obolibrary.org/obo/HP_0012277	An abnormally reduced concentration of glycine in the blood.
HP:0012278	Abnormal circulating serine concentration	biolink:PhenotypicFeature	hp	UMLS:C4022972			http://purl.obolibrary.org/obo/HP_0012278	Any deviation from the normal concentration of serine in the blood circulation.
HP:0012279	Hyposerinemia	biolink:PhenotypicFeature	hp	UMLS:C4022971		Low blood serine levels	http://purl.obolibrary.org/obo/HP_0012279	Reduced concentration of serine in the blood.
HP:0012280	Hepatic amyloidosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9551004|UMLS:C0267839			http://purl.obolibrary.org/obo/HP_0012280	A form of amyloidosis that affects the liver.
HP:0012281	Chylous ascites	biolink:PhenotypicFeature	hp	MSH:D002915|SNOMEDCT_US:52985009|UMLS:C0008732		Chyloperitoneum	http://purl.obolibrary.org/obo/HP_0012281	Extravasation of chyle into the peritoneal cavity.
HP:0012282	Morbilliform rash	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247470007|SNOMEDCT_US:50495000|UMLS:C0234918			http://purl.obolibrary.org/obo/HP_0012282	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	biolink:PhenotypicFeature	hp	UMLS:C4022970		Small end part of outermost thighbone	http://purl.obolibrary.org/obo/HP_0012283	Reduced size of the Distal epiphysis of femur.
HP:0012284	Small proximal tibial epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4022969		Small end part of innermost shankbone|Small end part of innermost shinbone	http://purl.obolibrary.org/obo/HP_0012284	Reduced size of the proximal epiphysis of the tibia.
HP:0012285	Abnormal hypothalamus physiology	biolink:PhenotypicFeature	hp	UMLS:C4022968			http://purl.obolibrary.org/obo/HP_0012285	An abnormal functionality of the hypothalamus.
HP:0012286	Abnormal hypothalamus morphology	biolink:PhenotypicFeature	hp	UMLS:C4021095		Abnormal shape of hypothalamus|Abnormality of hypothalamus morphology|Abnormality of the hypothalamus	http://purl.obolibrary.org/obo/HP_0012286	Any structural anomaly of the hypothalamus.
HP:0012287	Hypothalamic luteinizing hormone-releasing hormone deficiency	biolink:PhenotypicFeature	hp	UMLS:C4022967			http://purl.obolibrary.org/obo/HP_0012287	Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.
HP:0012288	Neoplasm of head and neck	biolink:PhenotypicFeature	hp	MSH:D006258|SNOMEDCT_US:255055008|SNOMEDCT_US:255056009|UMLS:C0018671|UMLS:C0278996		Head and neck tumor|Head and neck cancer	http://purl.obolibrary.org/obo/HP_0012288	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	biolink:PhenotypicFeature	hp	MSH:D005153|NCIT:C3262|SNOMEDCT_US:126632002|UMLS:C0015461		Face tumor	http://purl.obolibrary.org/obo/HP_0012289	A tumor (abnormal growth of tissue) of the face.
HP:0012290	Mouth neoplasm	biolink:PhenotypicFeature	hp	MSH:D009062|NCIT:C3262|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|UMLS:C0026640		Mouth tumor|Lesion of mouth|Neoplasm of the mouth	http://purl.obolibrary.org/obo/HP_0012290	A tumor (abnormal growth of tissue) of the mouth.
HP:0012291	obsolete Tracheal neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0012291	
HP:0012292	Fusion of gums	biolink:PhenotypicFeature	hp	UMLS:C4022966		Fusion of gums|Partial fusion of the gums|Upper and lower gums fused together|Fusion of the gingiva|Gingival synechia|Synechia of the gums	http://purl.obolibrary.org/obo/HP_0012292	A congenital defect with an abnormal joining of the gums of the upper and lower jaw.
HP:0012293	Abnormal genital pigmentation	biolink:PhenotypicFeature	hp	UMLS:C4022965			http://purl.obolibrary.org/obo/HP_0012293	An abnormal pigmentation pattern of the external genitalia.
HP:0012294	Abnormality of the occipital bone	biolink:PhenotypicFeature	hp	UMLS:C4022964			http://purl.obolibrary.org/obo/HP_0012294	Abnormality of the occipital bone of the skull.
HP:0012295	Slender middle phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4022963		Slender middle bone of finger	http://purl.obolibrary.org/obo/HP_0012295	Reduced diameter of the middle phalanx of finger.
HP:0012296	Slender distal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4022962		Slender outermost bone of finger	http://purl.obolibrary.org/obo/HP_0012296	Reduced diameter of the distal phalanx of finger.
HP:0012297	Slender proximal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4022961		Slender innermost bone of finger	http://purl.obolibrary.org/obo/HP_0012297	Reduced diameter of the proximal phalanx of finger.
HP:0012298	Long middle phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4022960		Long middle bone of finger	http://purl.obolibrary.org/obo/HP_0012298	Increased length of the middle phalanx of finger.
HP:0012299	Long distal phalanx of finger	biolink:PhenotypicFeature	hp	UMLS:C4021865		Long outermost bone of finger	http://purl.obolibrary.org/obo/HP_0012299	Increased length of the distal phalanx of finger.
HP:0012300	Ureteral agenesis	biolink:PhenotypicFeature	hp	UMLS:C4022959			http://purl.obolibrary.org/obo/HP_0012300	Failure of the ureter to undergo development.
HP:0012301	Type II transferrin isoform profile	biolink:PhenotypicFeature	hp	UMLS:C4021094		Abnormal isoelectric focusing of serum transferrin, type II pattern|Isoelectric focusing of serum transferrin consistent with CDG type II|Type 2 transferrin isoform profile|Abnormal isoelectric focusing of serum transferrin, type 2 pattern	http://purl.obolibrary.org/obo/HP_0012301	Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.
HP:0012302	Herpes simplex encephalitis	biolink:PhenotypicFeature	hp	MSH:D020803|SNOMEDCT_US:428638009|UMLS:C0276226			http://purl.obolibrary.org/obo/HP_0012302	A severe virus infection of the central nervous system by the herpes simplex virus (HSV).
HP:0012303	Abnormal aortic arch morphology	biolink:PhenotypicFeature	hp	Fyler:2700|SNOMEDCT_US:448742006|UMLS:C3163801		Abnormality of the aortic arch	http://purl.obolibrary.org/obo/HP_0012303	An anomaly of the arch of aorta.
HP:0012304	Hypoplastic aortic arch	biolink:PhenotypicFeature	hp	Fyler:2704|SNOMEDCT_US:60787001|UMLS:C0265881		Underdeveloped aortic arch|Aortic arch hypoplasia	http://purl.obolibrary.org/obo/HP_0012304	Underdevelopment of the arch of aorta.
HP:0012305	Coarctation of the descending aortic arch	biolink:PhenotypicFeature	hp	UMLS:C4022958			http://purl.obolibrary.org/obo/HP_0012305	Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.
HP:0012306	Abnormal rib ossification	biolink:PhenotypicFeature	hp	UMLS:C4022957		Abnormal maturation of rib bones	http://purl.obolibrary.org/obo/HP_0012306	An anomaly of the process of rib bone formation.
HP:0012307	Spatulate ribs	biolink:PhenotypicFeature	hp	UMLS:C1856637			http://purl.obolibrary.org/obo/HP_0012307	Ribs that are increased in width and taper to the posterior ends.
HP:0012308	Decreased serum complement C9	biolink:PhenotypicFeature	hp	UMLS:C4021093		Decreased serum C9	http://purl.obolibrary.org/obo/HP_0012308	A reduced level of the complement component C9 in circulation.
HP:0012309	Cutaneous amyloidosis	biolink:PhenotypicFeature	hp	MSH:C562642|SNOMEDCT_US:201337008|SNOMEDCT_US:281882003|SNOMEDCT_US:282834007|SNOMEDCT_US:718105008|UMLS:C0268397			http://purl.obolibrary.org/obo/HP_0012309	The presence of amyloid deposition in the superficial dermis.
HP:0012310	Abnormal monocyte count	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165540007|SNOMEDCT_US:165541006|UMLS:C0580319		Abnormal monocyte number	http://purl.obolibrary.org/obo/HP_0012310	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19636003|UMLS:C0085702		High blood monocyte number	http://purl.obolibrary.org/obo/HP_0012311	An increased number of circulating monocytes.
HP:0012312	Monocytopenia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165539005|UMLS:C0427544		Low blood monocyte number	http://purl.obolibrary.org/obo/HP_0012312	An decreased number of circulating monocytes.
HP:0012313	Heberden's node	biolink:PhenotypicFeature	hp	SNOMEDCT_US:371598009|UMLS:C0018862			http://purl.obolibrary.org/obo/HP_0012313	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20243008|UMLS:C0263780			http://purl.obolibrary.org/obo/HP_0012314	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	biolink:PhenotypicFeature	hp	MSH:D051642|SNOMEDCT_US:128741006|SNOMEDCT_US:302843004|UMLS:C1509147			http://purl.obolibrary.org/obo/HP_0012315	A neoplasm containing histiocytes.
HP:0012316	Fibrous tissue neoplasm	biolink:PhenotypicFeature	hp	MSH:D018218|UMLS:C0206643			http://purl.obolibrary.org/obo/HP_0012316	Any neoplasm composed of fibrous tissue.
HP:0012317	Sacroiliac arthritis	biolink:PhenotypicFeature	hp	MSH:C563037|UMLS:C0748473		Sacroiliitis	http://purl.obolibrary.org/obo/HP_0012317	Inflammation of the sacroiliac joint, generally accompanied by lower back pain.
HP:0012318	Occipital neuralgia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71760005|UMLS:C0007863			http://purl.obolibrary.org/obo/HP_0012318	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	biolink:PhenotypicFeature	hp	UMLS:C4022956			http://purl.obolibrary.org/obo/HP_0012319	Lack of skin pigmentation (coloring) of the abdomen.
HP:0012320	Absent pigmentation of the limbs	biolink:PhenotypicFeature	hp	UMLS:C4022955			http://purl.obolibrary.org/obo/HP_0012320	Lack of skin pigmentation (coloring) of the arms and legs.
HP:0012321	D-2-hydroxyglutaric aciduria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237960000|UMLS:C1833429			http://purl.obolibrary.org/obo/HP_0012321	An increased concentration of 2-hydroxyglutaric acid in the urine.
HP:0012322	Perifolliculitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:83341004|UMLS:C0263006		Perifollicular inflammation	http://purl.obolibrary.org/obo/HP_0012322	Inflammation surrounding hair follicles.
HP:0012323	Sleep myoclonus	biolink:PhenotypicFeature	hp	MSH:D009207|SNOMEDCT_US:34101000119105|UMLS:C0751352			http://purl.obolibrary.org/obo/HP_0012323	Myoclonus that occurs during the initial phases of sleep.
HP:0012324	Myeloid leukemia	biolink:PhenotypicFeature	hp	MSH:D007951|SNOMEDCT_US:128934006|SNOMEDCT_US:188732008|SNOMEDCT_US:37810007|UMLS:C0023470		Myeloid leukaemia	http://purl.obolibrary.org/obo/HP_0012324	A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.
HP:0012325	Chronic myelomonocytic leukemia	biolink:PhenotypicFeature	hp	MSH:D015477|SNOMEDCT_US:127225006|SNOMEDCT_US:128831004|UMLS:C0023480		Chronic myelomonocytic leukaemia	http://purl.obolibrary.org/obo/HP_0012325	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	biolink:PhenotypicFeature	hp	UMLS:C4022954		Abnormal coeliac artery morphology|Abnormality of the celiac artery	http://purl.obolibrary.org/obo/HP_0012326	An anomaly of the celiac artery.
HP:0012327	Celiac artery compression	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9250002|UMLS:C0152098|UMLS:C4020693		Coeliac artery compression|Celiac axis syndrome|Dunbar syndrome|Median arcuate ligament syndrome	http://purl.obolibrary.org/obo/HP_0012327	Compression of the celiac artery.
HP:0012328	Cementoma	biolink:PhenotypicFeature	hp	MSH:D002485|SNOMEDCT_US:23255001|SNOMEDCT_US:37258009|UMLS:C0007659			http://purl.obolibrary.org/obo/HP_0012328	An odontogenic tumor of the cementum of tooth.
HP:0012329	Tufted angioma	biolink:PhenotypicFeature	hp	MSH:C536924|SNOMEDCT_US:254786000|SNOMEDCT_US:705155008|UMLS:C0346073		Angioblastoma|Angioblastoma of Nakagawa|Hypertrophic hemangioma|Progressive capillary hemangioma|Tufted hemangioma	http://purl.obolibrary.org/obo/HP_0012329	A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.
HP:0012330	Pyelonephritis	biolink:PhenotypicFeature	hp	MSH:D011704|SNOMEDCT_US:45816000|UMLS:C0034186			http://purl.obolibrary.org/obo/HP_0012330	An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
HP:0012331	Abnormal autonomic nervous system morphology	biolink:PhenotypicFeature	hp	UMLS:C4022953			http://purl.obolibrary.org/obo/HP_0012331	A structural abnormality of the autonomic nervous system.
HP:0012332	Abnormal autonomic nervous system physiology	biolink:PhenotypicFeature	hp	UMLS:C4022952		Autonomic dysfunction|Autonomic dysregulation|Dysautonomia	http://purl.obolibrary.org/obo/HP_0012332	A functional abnormality of the autonomic nervous system.
HP:0012333	Abnormal sudomotor regulation	biolink:PhenotypicFeature	hp	UMLS:C4021092		Sudomotor sympathetic dysfunction	http://purl.obolibrary.org/obo/HP_0012333	An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.
HP:0012334	Extrahepatic cholestasis	biolink:PhenotypicFeature	hp	MSH:D001651|SNOMEDCT_US:20719006|SNOMEDCT_US:8262006|UMLS:C0005398			http://purl.obolibrary.org/obo/HP_0012334	Impairment of bile flow due to obstruction in large bile ducts outside the liver.
HP:0012335	Abnormality of folate metabolism	biolink:PhenotypicFeature	hp	UMLS:C4022951			http://purl.obolibrary.org/obo/HP_0012335	An abnormality of the metabolism of folic acid, which is also known as vitamin B9.
HP:0012336	obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0012336	
HP:0012337	Abnormal homeostasis	biolink:PhenotypicFeature	hp	MP:0001764|UMLS:C4022950			http://purl.obolibrary.org/obo/HP_0012337	An anomaly in the processes involved in the maintenance of an internal equilibrium.
HP:0012338	Abnormal energy expenditure	biolink:PhenotypicFeature	hp	UMLS:C4022949		Abnormal energy expenditure	http://purl.obolibrary.org/obo/HP_0012338	Any anomaly in the utilization of energy (calories).
HP:0012339	Increased resting energy expenditure	biolink:PhenotypicFeature	hp	UMLS:C4022948			http://purl.obolibrary.org/obo/HP_0012339	An increase in the number of calories used per unit time.
HP:0012340	Decreased resting energy expenditure	biolink:PhenotypicFeature	hp	UMLS:C4022947			http://purl.obolibrary.org/obo/HP_0012340	A reduction in the number of calories used per unit time.
HP:0012341	Microprolactinoma	biolink:PhenotypicFeature	hp	MSH:D015175|SNOMEDCT_US:253010003|UMLS:C0344452			http://purl.obolibrary.org/obo/HP_0012341	A pituitary prolactin cell adenoma of less than 10 mm diameter.
HP:0012342	Macroprolactinoma	biolink:PhenotypicFeature	hp	MSH:D015175|SNOMEDCT_US:253011004|UMLS:C0344453			http://purl.obolibrary.org/obo/HP_0012342	A pituitary prolactin cell adenoma of more than 10 mm diameter.
HP:0012343	Decreased circulating ferritin concentration	biolink:PhenotypicFeature	hp	UMLS:C0241012		Decreased serum ferritin|Low ferritin level|Reduced serum ferritin|Decreased plasma ferritin	http://purl.obolibrary.org/obo/HP_0012343	Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.
HP:0012344	Morphea	biolink:PhenotypicFeature	hp	MSH:D012594|SNOMEDCT_US:201049004|UMLS:C1527383			http://purl.obolibrary.org/obo/HP_0012344	Isolated patches of hardened skin (scleroderma).
HP:0012345	Abnormal glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022946			http://purl.obolibrary.org/obo/HP_0012345	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	biolink:PhenotypicFeature	hp	UMLS:C4022945			http://purl.obolibrary.org/obo/HP_0012346	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	biolink:PhenotypicFeature	hp	UMLS:C4022944			http://purl.obolibrary.org/obo/HP_0012347	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	biolink:PhenotypicFeature	hp	UMLS:C4022943			http://purl.obolibrary.org/obo/HP_0012348	A reduction in the amount of galactose residues of N-glycans.
HP:0012349	Abnormal sialylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022942			http://purl.obolibrary.org/obo/HP_0012349	An anomaly of the addition of sialic acids to N-linked glycans.
HP:0012350	Decreased sialylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022941			http://purl.obolibrary.org/obo/HP_0012350	Decreased addition of sialic acids to N-linked glycans.
HP:0012351	Increased sialylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022940			http://purl.obolibrary.org/obo/HP_0012351	Increased addition of sialic acids to N-linked glycans.
HP:0012352	Abnormal fucosylation of protein N-linked glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022939			http://purl.obolibrary.org/obo/HP_0012352	An anomaly of the addition of fucose sugar units to N-linked glycans.
HP:0012353	Decreased fucosylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022938			http://purl.obolibrary.org/obo/HP_0012353	Decreased addition of fucose sugar units to N-linked glycans.
HP:0012354	Increased fucosylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022937			http://purl.obolibrary.org/obo/HP_0012354	Increased addition of fucose sugar units to N-linked glycans.
HP:0012355	Abnormal mannosylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022936			http://purl.obolibrary.org/obo/HP_0012355	An anomaly of the addition of mannose to N-linked glycans.
HP:0012356	Decreased mannosylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022935			http://purl.obolibrary.org/obo/HP_0012356	Reduced addition of mannose to N-linked glycans.
HP:0012357	Increased mannosylation of N-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022934			http://purl.obolibrary.org/obo/HP_0012357	Increased addition of mannose to N-linked glycans.
HP:0012358	Abnormal protein O-linked glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022933			http://purl.obolibrary.org/obo/HP_0012358	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	biolink:PhenotypicFeature	hp	UMLS:C4022932			http://purl.obolibrary.org/obo/HP_0012359	An anomaly of the addition of fucose sugar units to O-linked glycans.
HP:0012360	Decreased fucosylation of O-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022931			http://purl.obolibrary.org/obo/HP_0012360	A reduction of the addition of fucose sugar units to O-linked glycans.
HP:0012361	Increased fucosylation of O-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022930			http://purl.obolibrary.org/obo/HP_0012361	Increased addition of fucose sugar units to O-linked glycans.
HP:0012362	Abnormal sialylation of O-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022929			http://purl.obolibrary.org/obo/HP_0012362	An anomaly of the addition of sialic acids to O-linked glycans.
HP:0012363	Decreased sialylation of O-linked protein glycosylation	biolink:PhenotypicFeature	hp	UMLS:C4022928			http://purl.obolibrary.org/obo/HP_0012363	An reduced addition of sialic acids to O-linked glycans.
HP:0012364	Decreased urinary potassium	biolink:PhenotypicFeature	hp	SNOMEDCT_US:54781007|UMLS:C0268024		Decreased urinary K|Hypokaluria|Low urine potassium levels	http://purl.obolibrary.org/obo/HP_0012364	A decreased concentration of potassium(1+) in the urine.
HP:0012365	Hypophosphaturia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:91632005|UMLS:C0268077		Low urine phosphate levels	http://purl.obolibrary.org/obo/HP_0012365	An abnormally decreased phosphate concentration in the urine.
HP:0012366	Basilar invagination	biolink:PhenotypicFeature	hp	UMLS:C3887851			http://purl.obolibrary.org/obo/HP_0012366	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	biolink:PhenotypicFeature	hp	UMLS:C4022927	hposlim_core		http://purl.obolibrary.org/obo/HP_0012367	Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.
HP:0012368	Flat face	biolink:PhenotypicFeature	hp	UMLS:C1853241	hposlim_core	Flat face|Flat facial shape|Flat facial profile|Flat facies	http://purl.obolibrary.org/obo/HP_0012368	Absence of concavity or convexity of the face when viewed in profile.
HP:0012369	Abnormality of malar bones	biolink:PhenotypicFeature	hp	UMLS:C4022926		Malar anomaly|Anomaly of the malar bones|Deformity of the malar bones|Malformation of the malar bones	http://purl.obolibrary.org/obo/HP_0012369	An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.
HP:0012370	Prominence of the zygomatic bone	biolink:PhenotypicFeature	hp	SNOMEDCT_US:427888001|UMLS:C0375511|UMLS:C1997760|UMLS:C4082245	hposlim_core	Prominence of cheekbone|Pronounced cheekbone|Cheekbone excess|Zygomatic bone excess|Cheekbone prominence|Malar hypertrophy|Hyperplasia of cheekbone|Hyperplasia of zygomatic bone|Zygomatic hypertrophy	http://purl.obolibrary.org/obo/HP_0012370	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	biolink:PhenotypicFeature	hp	UMLS:C0240309	hposlim_core	Big midface|Large midface|Midfacial excess|Midfacial prominence|Overgrowth of the midface|Midface hyperplasia|Hypertrophy of midface	http://purl.obolibrary.org/obo/HP_0012371	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	biolink:PhenotypicFeature	hp	Fyler:4863|UMLS:C4022925		Abnormal eye structure|Abnormally shaped eye|Abnormality of the globe	http://purl.obolibrary.org/obo/HP_0012372	A structural anomaly of the globe of the eye, or bulbus oculi.
HP:0012373	Abnormal eye physiology	biolink:PhenotypicFeature	hp	UMLS:C4022924		Abnormal eye physiology	http://purl.obolibrary.org/obo/HP_0012373	A functional anomaly of the eye.
HP:0012374	obsolete Abnormal globe morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0012374	
HP:0012375	Chemosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8148005|UMLS:C0271298			http://purl.obolibrary.org/obo/HP_0012375	Edema (swelling) of the bulbar conjunctiva.
HP:0012376	Microphakia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:35272001|UMLS:C0266541	hposlim_core	Small lens	http://purl.obolibrary.org/obo/HP_0012376	Abnormal smallness of the lens.
HP:0012377	Hemianopia	biolink:PhenotypicFeature	hp	MSH:D006423|SNOMEDCT_US:77674003|UMLS:C0018979		Hemianopsia	http://purl.obolibrary.org/obo/HP_0012377	Partial or complete loss of vision in one half of the visual field of one or both eyes.
HP:0012378	Fatigue	biolink:PhenotypicFeature	hp	MSH:D005221|SNOMEDCT_US:248274002|SNOMEDCT_US:84229001|UMLS:C0015672		Fatigue|Tired|Tiredness|Malaise	http://purl.obolibrary.org/obo/HP_0012378	A subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0012379	Abnormal enzyme/coenzyme activity	biolink:PhenotypicFeature	hp	UMLS:C4022922			http://purl.obolibrary.org/obo/HP_0012379	An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.
HP:0012380	Reduced carnitine O-palmitoyltransferase level	biolink:PhenotypicFeature	hp	UMLS:C4022921			http://purl.obolibrary.org/obo/HP_0012380	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	biolink:PhenotypicFeature	hp	UMLS:C4022920			http://purl.obolibrary.org/obo/HP_0012381	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66130006|UMLS:C0428870			http://purl.obolibrary.org/obo/HP_0012382	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:13352000|UMLS:C0428872			http://purl.obolibrary.org/obo/HP_0012383	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	biolink:PhenotypicFeature	hp	MSH:D012220|SNOMEDCT_US:70076002|UMLS:C0035455|UMLS:C2718128	hposlim_core	Nasal inflammation	http://purl.obolibrary.org/obo/HP_0012384	Inflammation of the nasal mucosa with nasal congestion.
HP:0012385	Camptodactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:29271008|UMLS:C0685409	hposlim_core	Permanent flexion of the finger or toe	http://purl.obolibrary.org/obo/HP_0012385	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	biolink:PhenotypicFeature	hp	UMLS:C1841686		Absent big toe|Missing big toe|Agenesis of the halluces|Aplasia of the hallux	http://purl.obolibrary.org/obo/HP_0012386	Aplasia of the hallux, that is, a development defect such that the big toe does not develop.
HP:0012387	Bronchitis	biolink:PhenotypicFeature	hp	MSH:D001991|SNOMEDCT_US:32398004|UMLS:C0006277			http://purl.obolibrary.org/obo/HP_0012387	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10509002|SNOMEDCT_US:35301006|UMLS:C0149514			http://purl.obolibrary.org/obo/HP_0012388	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	biolink:PhenotypicFeature	hp	UMLS:C4022919			http://purl.obolibrary.org/obo/HP_0012389	Muscular hypotonia of one or more limbs.
HP:0012390	Anal fissure	biolink:PhenotypicFeature	hp	MSH:D005401|SNOMEDCT_US:20928004|SNOMEDCT_US:30037006|UMLS:C0016167		Anal erosion	http://purl.obolibrary.org/obo/HP_0012390	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	biolink:PhenotypicFeature	hp	UMLS:C1836835			http://purl.obolibrary.org/obo/HP_0012391	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	biolink:PhenotypicFeature	hp	UMLS:C4022918		Mandibular hyporeflexia	http://purl.obolibrary.org/obo/HP_0012392	Reduced intensity of muscle tendon reflexes in jaw.
HP:0012393	Allergy	biolink:PhenotypicFeature	hp	MSH:D006967|SNOMEDCT_US:419076005|UMLS:C1527304		Allergy	http://purl.obolibrary.org/obo/HP_0012393	An allergy is an immune response or reaction to substances that are usually not harmful.
HP:0012394	Iodine contrast allergy	biolink:PhenotypicFeature	hp	UMLS:C4022917			http://purl.obolibrary.org/obo/HP_0012394	Allergy to iodine contrast media used in radiological studies.
HP:0012395	Seasonal allergy	biolink:PhenotypicFeature	hp	MSH:D006255|SNOMEDCT_US:21719001|SNOMEDCT_US:300910009|SNOMEDCT_US:367498001|SNOMEDCT_US:444316004|UMLS:C0018621		Seasonal allergy	http://purl.obolibrary.org/obo/HP_0012395	An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.
HP:0012396	Biliary dyskinesia	biolink:PhenotypicFeature	hp	MSH:D001657|SNOMEDCT_US:197432008|UMLS:C0005416			http://purl.obolibrary.org/obo/HP_0012396	A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.
HP:0012397	Aortic atherosclerotic lesion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:81817003|UMLS:C0155733		Aortic atherosclerosis|Plaque build-up in aorta artery|Atherosclerosis of the aorta|Atherosclerotic changes of aorta	http://purl.obolibrary.org/obo/HP_0012397	The presence of atheromas or atherosclerotic plaques in the aorta.
HP:0012398	Peripheral edema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271809000|SNOMEDCT_US:82014009|UMLS:C0085649		Peripheral oedema	http://purl.obolibrary.org/obo/HP_0012398	An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.
HP:0012399	Pressure ulcer	biolink:PhenotypicFeature	hp	MSH:D003668|SNOMEDCT_US:399912005|SNOMEDCT_US:420226006|UMLS:C0011127		Bedsore|Pressure Sore|Pressure ulcer|Decubitus Ulcer	http://purl.obolibrary.org/obo/HP_0012399	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 aldolase level	biolink:PhenotypicFeature	hp	UMLS:C4022916			http://purl.obolibrary.org/obo/HP_0012400	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	biolink:PhenotypicFeature	hp	UMLS:C4020902		Abnormal urinary 2-oxoglutarate level|Abnormality of urine alpha ketoglutarate concentration	http://purl.obolibrary.org/obo/HP_0012401	A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.
HP:0012402	Increased urine alpha-ketoglutarate concentration	biolink:PhenotypicFeature	hp	UMLS:C4022915		Increased urine alpha-ketoglutarate concentration|Elevated urinary 2-oxoglutarate	http://purl.obolibrary.org/obo/HP_0012402	A greater than normal concentration of 2-oxoglutaric acid in the urine.
HP:0012403	Decreased urine alpha-ketoglutarate concentration	biolink:PhenotypicFeature	hp	UMLS:C4022914		Decreased urinary 2-oxoglutarate	http://purl.obolibrary.org/obo/HP_0012403	A lower than normal concentration of 2-oxoglutaric acid in the urine.
HP:0012404	Abnormal urine citrate concentration	biolink:PhenotypicFeature	hp	UMLS:C4022913		Abnormal urine citrate concentration|Abnormal urine citric acid concentration	http://purl.obolibrary.org/obo/HP_0012404	A deviation from normal of the concentration of citrate(3-) in the urine.
HP:0012405	Hypocitraturia	biolink:PhenotypicFeature	hp	UMLS:C2673444		Decreased urine citrate concentration	http://purl.obolibrary.org/obo/HP_0012405	A lower than normal concentration of citrate(3-) in the urine.
HP:0012406	Hypercitraturia	biolink:PhenotypicFeature	hp	UMLS:C4021090		Increased urine citrate concentration	http://purl.obolibrary.org/obo/HP_0012406	A greater than normal concentration of citrate(3-) in the urine.
HP:0012407	Scissor gait	biolink:PhenotypicFeature	hp	MSH:D020233|SNOMEDCT_US:22090007|UMLS:C0231698		Scissor gait|Scissor walk|Scissors gait	http://purl.obolibrary.org/obo/HP_0012407	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236447005|UMLS:C0403477			http://purl.obolibrary.org/obo/HP_0012408	The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
HP:0012409	Cortical nephrocalcinosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236446001|UMLS:C0403476			http://purl.obolibrary.org/obo/HP_0012409	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	biolink:PhenotypicFeature	hp	MSH:D012010|SNOMEDCT_US:50715003|UMLS:C0034902		Red cell aplasia	http://purl.obolibrary.org/obo/HP_0012410	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237815000|UMLS:C0342541		Premature pubic hair growth	http://purl.obolibrary.org/obo/HP_0012411	The onset of growth of pubic hair at an earlier age than normal.
HP:0012412	Premature adrenarche	biolink:PhenotypicFeature	hp	SNOMEDCT_US:103021001|UMLS:C0342546			http://purl.obolibrary.org/obo/HP_0012412	Onset of adrenarche at an earlier age than usual.
HP:0012413	Notched primary central incisor	biolink:PhenotypicFeature	hp	MSH:D013590|SNOMEDCT_US:410500004|SNOMEDCT_US:86443005|UMLS:C0020186|UMLS:C1444627|UMLS:C4022912		Notched front baby tooth|Notched front deciduous tooth|Notched front primary tooth|Syphilitic primary incisor|Hutchinson's incisor|Hutchinson's sign|Hutchinson's teeth|Hutchinson-boeck teeth	http://purl.obolibrary.org/obo/HP_0012413	The presence of a V-shaped indentation (notch) in the primary central incisor.
HP:0012414	Duodenal atrophy	biolink:PhenotypicFeature	hp	UMLS:C4022911			http://purl.obolibrary.org/obo/HP_0012414	Wasting or decrease in size of all or part of the duodenum.
HP:0012415	Abnormal blood gas level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:312391003|UMLS:C0476337		Abnormal blood gas level	http://purl.obolibrary.org/obo/HP_0012415	An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
HP:0012416	Hypercapnia	biolink:PhenotypicFeature	hp	MSH:D006935|SNOMEDCT_US:29596007|UMLS:C0020440		High blood carbon dioxide level|Hypercarbia	http://purl.obolibrary.org/obo/HP_0012416	Abnormally elevated blood carbon dioxide (CO2) level.
HP:0012417	Hypocapnia	biolink:PhenotypicFeature	hp	MSH:D016857|SNOMEDCT_US:61031008|UMLS:C0085383		Reduced carbon dioxide in the blood|Hypocarbia	http://purl.obolibrary.org/obo/HP_0012417	Abnormally reduced blood carbon dioxide (CO2) level.
HP:0012418	Hypoxemia	biolink:PhenotypicFeature	hp	MSH:D000860|SNOMEDCT_US:389087006|UMLS:C0700292		Low blood oxygen level|Hypoxia	http://purl.obolibrary.org/obo/HP_0012418	An abnormally low level of blood oxygen.
HP:0012419	Hyperoxemia	biolink:PhenotypicFeature	hp	UMLS:C4022910			http://purl.obolibrary.org/obo/HP_0012419	An abnormally high level of blood oxygen.
HP:0012420	Meconium stained amniotic fluid	biolink:PhenotypicFeature	hp	SNOMEDCT_US:168092006|SNOMEDCT_US:249135009|UMLS:C0426209		Meconium staining of amniotic fluid|Meconium-stained amniotic fluid	http://purl.obolibrary.org/obo/HP_0012420	Amniotic fluid containing the earliest stools of a mammalian infant.
HP:0012421	Congenital absence of foreskin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300519001|UMLS:C0577242		Absent foreskin|Aposthia	http://purl.obolibrary.org/obo/HP_0012421	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	biolink:PhenotypicFeature	hp	UMLS:C4020728|UMLS:C4021089		Choroid plexus hypertrophy|Diffuse villous hypertrophy of choroid plexus	http://purl.obolibrary.org/obo/HP_0012422	Overgrowth of the choroid plexus.
HP:0012423	Colonic inertia	biolink:PhenotypicFeature	hp	MSH:D003248|UMLS:C1257861			http://purl.obolibrary.org/obo/HP_0012423	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	biolink:PhenotypicFeature	hp	MSH:D002825|SNOMEDCT_US:46627006|UMLS:C0008513			http://purl.obolibrary.org/obo/HP_0012424	An inflammation of the choroid and retina.
HP:0012425	Stercoral ulcer	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235766003|SNOMEDCT_US:38084005|SNOMEDCT_US:46040000|UMLS:C0267491|UMLS:C0333302		Colon ulcer|Recto-sigmoid colon stercoral ulcer	http://purl.obolibrary.org/obo/HP_0012425	An ulcer of the colon due to pressure and irritation from retained fecal masses.
HP:0012426	Optic disc drusen	biolink:PhenotypicFeature	hp	MSH:D015594|SNOMEDCT_US:33629003|UMLS:C0029128		Optic nerve head drusen	http://purl.obolibrary.org/obo/HP_0012426	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	Excessive femoral anteversion	biolink:PhenotypicFeature	hp	UMLS:C4022909			http://purl.obolibrary.org/obo/HP_0012427	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	biolink:PhenotypicFeature	hp	UMLS:C4021088		Prominent heel bone	http://purl.obolibrary.org/obo/HP_0012428	Protruding heel bone, or calcaneus.
HP:0012429	Aplasia/Hypoplasia of the cerebral white matter	biolink:PhenotypicFeature	hp	UMLS:C4021844		Absent/small cerebral white matter|Absent/underdeveloped cerebral white matter	http://purl.obolibrary.org/obo/HP_0012429	Absence or underdevelopment of the cerebral white matter.
HP:0012430	Cerebral white matter hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4020727|UMLS:C4022908		Paucity of cerebral white matter	http://purl.obolibrary.org/obo/HP_0012430	Underdevelopment of the cerebral white matter.
HP:0012431	Episodic fatigue	biolink:PhenotypicFeature	hp	UMLS:C4022907			http://purl.obolibrary.org/obo/HP_0012431	Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.
HP:0012432	Chronic fatigue	biolink:PhenotypicFeature	hp	UMLS:C0518656		Chronic extreme exhaustion|Chronic fatigue	http://purl.obolibrary.org/obo/HP_0012432	Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
HP:0012433	Abnormal social behavior	biolink:PhenotypicFeature	hp	UMLS:C4020726|UMLS:C4021087		Abnormal social behavior|Abnormal social behaviour|Abnormal social interactions	http://purl.obolibrary.org/obo/HP_0012433	An abnormality of actions or reactions of a person taking place during interactions with others.
HP:0012434	Delayed social development	biolink:PhenotypicFeature	hp	UMLS:C4022906		Delayed social development	http://purl.obolibrary.org/obo/HP_0012434	A failure to meet one or more age-related milestones of social behavior.
HP:0012435	Ventral shortening of foreskin	biolink:PhenotypicFeature	hp	UMLS:C4022905			http://purl.obolibrary.org/obo/HP_0012435	Reduction in length of the ventral (lower) skin of prepuce of penis.
HP:0012436	Nonocclusive coronary artery atherosclerosis	biolink:PhenotypicFeature	hp	UMLS:C4020724|UMLS:C4020725		Non-occlusive coronary artery disease|Non-occlusive coronary artery stenosis|Nonocclusive coronary artery disease|Nonocclusive coronary artery stenosis	http://purl.obolibrary.org/obo/HP_0012436	Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.
HP:0012437	Abnormal gallbladder morphology	biolink:PhenotypicFeature	hp	UMLS:C4022904		Abnormal gallbladder structure|Abnormal shape of gallbladder	http://purl.obolibrary.org/obo/HP_0012437	A structural anomaly of the gallbladder.
HP:0012438	Abnormal gallbladder physiology	biolink:PhenotypicFeature	hp	UMLS:C4022903			http://purl.obolibrary.org/obo/HP_0012438	A functional anomaly of the gallbladder.
HP:0012439	Abnormal biliary tract physiology	biolink:PhenotypicFeature	hp	UMLS:C4022902			http://purl.obolibrary.org/obo/HP_0012439	A functional abnormality of the biliary tree.
HP:0012440	Abnormal biliary tract morphology	biolink:PhenotypicFeature	hp	UMLS:C4021086		Anomaly of the biliary tract	http://purl.obolibrary.org/obo/HP_0012440	A structural abnormality of the biliary tree.
HP:0012441	Sphincter of Oddi dyskinesia	biolink:PhenotypicFeature	hp	MSH:D046628|SNOMEDCT_US:430887001|UMLS:C0878588|UMLS:C4048750		Sphincter of Oddi dysfunction	http://purl.obolibrary.org/obo/HP_0012441	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	biolink:PhenotypicFeature	hp	MSH:D001657|UMLS:C1449631			http://purl.obolibrary.org/obo/HP_0012442	Reduced motility of the gallbladder with reduced emptying fraction.
HP:0012443	Abnormality of brain morphology	biolink:PhenotypicFeature	hp	UMLS:C4021085		Abnormal shape of brain|Abnormality of the brain	http://purl.obolibrary.org/obo/HP_0012443	A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
HP:0012444	Brain atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|SNOMEDCT_US:52522001|UMLS:C0154671|UMLS:C0235946		Brain degeneration|Brain wasting	http://purl.obolibrary.org/obo/HP_0012444	Partial or complete wasting (loss) of brain tissue that was once present.
HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	biolink:PhenotypicFeature	hp	MSH:C567791|SNOMEDCT_US:711403001|UMLS:C2751584|UMLS:C4022901		Reduced CSF 5-methyltetrahydrofolate concentration|Low CSF 5-methyltetrahydrofolate|Cerebral folate deficiency	http://purl.obolibrary.org/obo/HP_0012446	A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.
HP:0012447	Abnormal myelination	biolink:PhenotypicFeature	hp	UMLS:C1857704			http://purl.obolibrary.org/obo/HP_0012447	Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
HP:0012448	Delayed myelination	biolink:PhenotypicFeature	hp	SNOMEDCT_US:135810007|UMLS:C1277241			http://purl.obolibrary.org/obo/HP_0012448	Delayed myelination.
HP:0012449	Sacroiliac joint synovitis	biolink:PhenotypicFeature	hp	UMLS:C4022900			http://purl.obolibrary.org/obo/HP_0012449	Inflammation of the synovial membrane of the sacroiliac joint.
HP:0012450	Chronic constipation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236069009|UMLS:C0401149		Chronic constipation|Infrequent bowel movements	http://purl.obolibrary.org/obo/HP_0012450	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197119006|UMLS:C0401148			http://purl.obolibrary.org/obo/HP_0012451	Constipation of sudden onset and lasting for less than three months.
HP:0012452	Restless legs	biolink:PhenotypicFeature	hp	MSH:D012148|SNOMEDCT_US:32914008|UMLS:C0035258		Willis-Ekbom disease|Restless legs syndrome|Wittmaack-Ekbom syndrome	http://purl.obolibrary.org/obo/HP_0012452	A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).
HP:0012453	Bilateral wrist flexion contracture	biolink:PhenotypicFeature	hp	UMLS:C4020723|UMLS:C4022899		Bilateral wrist contracture	http://purl.obolibrary.org/obo/HP_0012453	A chronic loss of wrist joint motion on the right and left sides.
HP:0012454	Unilateral wrist flexion contracture	biolink:PhenotypicFeature	hp	UMLS:C4020722|UMLS:C4022898		Unilateral wrist contracture	http://purl.obolibrary.org/obo/HP_0012454	A chronic loss of wrist joint motion on one side only.
HP:0012455	obsolete Large artery calcification	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0012455	
HP:0012456	Medial arterial calcification	biolink:PhenotypicFeature	hp	UMLS:C4022896			http://purl.obolibrary.org/obo/HP_0012456	Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.
HP:0012457	Medial calcification of medium-sized arteries	biolink:PhenotypicFeature	hp	UMLS:C4022895			http://purl.obolibrary.org/obo/HP_0012457	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	biolink:PhenotypicFeature	hp	UMLS:C4022894			http://purl.obolibrary.org/obo/HP_0012458	Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.
HP:0012459	Hypnic headache	biolink:PhenotypicFeature	hp	MSH:D051270|SNOMEDCT_US:122711000119109|UMLS:C0752150		Alarm clock headache	http://purl.obolibrary.org/obo/HP_0012459	A headache disorder that occurs exclusively at night, waking the affected individual from sleep.
HP:0012460	Dysmorphic inferior cerebellar vermis	biolink:PhenotypicFeature	hp	UMLS:C4022893			http://purl.obolibrary.org/obo/HP_0012460	A structural anomaly of the inferior portion of the vermis of cerebellum.
HP:0012461	Bacteriuria	biolink:PhenotypicFeature	hp	MSH:D001437|SNOMEDCT_US:61373006|UMLS:C0004659		Bacteria in urine|High urine bacteria	http://purl.obolibrary.org/obo/HP_0012461	The presence of bacteria in the urine.
HP:0012462	Chin myoclonus	biolink:PhenotypicFeature	hp	MSH:C537682|UMLS:C1860972		Geniospasm|Chin spasms	http://purl.obolibrary.org/obo/HP_0012462	Involuntary and irregular twitches of the chin.
HP:0012463	Elevated transferrin saturation	biolink:PhenotypicFeature	hp	UMLS:C4022892			http://purl.obolibrary.org/obo/HP_0012463	An above normal level of saturation of serum transferrin with iron.
HP:0012464	Decreased transferrin saturation	biolink:PhenotypicFeature	hp	UMLS:C0919785			http://purl.obolibrary.org/obo/HP_0012464	A below normal level of saturation of serum transferrin with iron.
HP:0012465	Elevated hepatic iron concentration	biolink:PhenotypicFeature	hp	UMLS:C4022891		Increased iron concentration in liver|Increased liver iron level	http://purl.obolibrary.org/obo/HP_0012465	An increased level of iron in liver tissues.
HP:0012466	Chronic respiratory acidosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:8764008|UMLS:C0268048			http://purl.obolibrary.org/obo/HP_0012466	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70644008|UMLS:C0268047			http://purl.obolibrary.org/obo/HP_0012467	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	biolink:PhenotypicFeature	hp	UMLS:C1735903			http://purl.obolibrary.org/obo/HP_0012468	Longstanding abnormal acid accumulation or depletion of base.
HP:0012469	Infantile spasms	biolink:PhenotypicFeature	hp	UMLS:C3887898			http://purl.obolibrary.org/obo/HP_0012469	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:63342001|UMLS:C0423128|UMLS:C4020721		Setting-sun eye phenomenon|Sun setting eyes|Sunsetting eye|Eyes fixed downward	http://purl.obolibrary.org/obo/HP_0012470	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	biolink:PhenotypicFeature	hp	UMLS:C1836543		Full lips|Increased volume of lip|Plump lips|Prominent lips|Thick lips|Increased volume of lip vermillion	http://purl.obolibrary.org/obo/HP_0012471	Increased width of the skin of vermilion border region of upper lip.
HP:0012472	Eclabion	biolink:PhenotypicFeature	hp	UMLS:C3550430		Outward turned lips|Eclabium|Everted lips	http://purl.obolibrary.org/obo/HP_0012472	A turning outward of the lip or lips, that is, eversion of the lips.
HP:0012473	Tongue atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249382006|SNOMEDCT_US:50805004|UMLS:C0241423|UMLS:C0426494		Wasting of the tongue|Atrophy of the tongue|Lingual atrophy|Lingual wasting	http://purl.obolibrary.org/obo/HP_0012473	Wasting of the tongue.
HP:0012474	Carotid artery occlusion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:266254007|SNOMEDCT_US:69798007|UMLS:C0265101		Obstructed carotid artery	http://purl.obolibrary.org/obo/HP_0012474	Complete obstruction of a carotid artery.
HP:0012475	Decreased circulating level of specific antibody	biolink:PhenotypicFeature	hp	SNOMEDCT_US:234556002|UMLS:C0398711		Abnormal specific antibody response|Decreased specific antibody in blood|Specific antibody deficiency	http://purl.obolibrary.org/obo/HP_0012475	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	biolink:PhenotypicFeature	hp	UMLS:C4022890		Low pneumococcal antibody titer|Specific pneumococcal antibody deficiency	http://purl.obolibrary.org/obo/HP_0012476	The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
HP:0012477	Vocal tremor	biolink:PhenotypicFeature	hp	UMLS:C4022889		Shakey voice|Vocal tremor	http://purl.obolibrary.org/obo/HP_0012477	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	biolink:PhenotypicFeature	hp	MSH:C536957|SNOMEDCT_US:298231004|SNOMEDCT_US:50603008|SNOMEDCT_US:91866004|UMLS:C0575010|UMLS:C0685924|UMLS:C2931375		Freezing of jaw joint|Adhesion of the temporomandibular joint|Ankylosis of temporomandibular joint|Freezing of the temporomandibular joint|Rigidity of the temporomandibular joint|Temporomandibular joint fusion	http://purl.obolibrary.org/obo/HP_0012478	Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
HP:0012479	Temporomandibular joint crepitus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298377005|UMLS:C0575154|UMLS:C4280313|UMLS:C4280314|UMLS:C4280315		Jaw joint noise|Jaw joint sounds|Jaw joint clicking sound|Jaw joint grating sound|Jaw joint popping sound|Temporomandibular joint noise|Temporomandibular joint sounds|Jaw joint crepitus|Temporomandibular joint clicking sound|Temporomandibular joint grating sound|Temporomandibular joint popping sound	http://purl.obolibrary.org/obo/HP_0012479	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	biolink:PhenotypicFeature	hp	UMLS:C4022888		Abnormality of cerebral veins	http://purl.obolibrary.org/obo/HP_0012480	An anomaly of cerebral veins.
HP:0012481	Cerebral venous angioma	biolink:PhenotypicFeature	hp	MSH:D020787|UMLS:C1956261		Developmental Venous Anomaly	http://purl.obolibrary.org/obo/HP_0012481	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	biolink:PhenotypicFeature	hp	UMLS:C4022887			http://purl.obolibrary.org/obo/HP_0012482	A venous angioma of the frontal lobe of the brain.
HP:0012483	Abnormal alpha granules	biolink:PhenotypicFeature	hp	UMLS:C4022886			http://purl.obolibrary.org/obo/HP_0012483	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	biolink:PhenotypicFeature	hp	UMLS:C4022885			http://purl.obolibrary.org/obo/HP_0012484	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	biolink:PhenotypicFeature	hp	UMLS:C4021840			http://purl.obolibrary.org/obo/HP_0012485	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	biolink:PhenotypicFeature	hp	MSH:D009187|SNOMEDCT_US:41370002|UMLS:C0026975		Inflammation of spinal cord	http://purl.obolibrary.org/obo/HP_0012486	Inflammation of the spinal cord.
HP:0012487	Cerebellopontine angle arachnoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4022884			http://purl.obolibrary.org/obo/HP_0012487	An arachnoid cyst located at the margin of the cerebellum and pons.
HP:0012488	Intraventricular arachnoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4022883			http://purl.obolibrary.org/obo/HP_0012488	An arachnoid cyst located within the ventricular system.
HP:0012489	Suprasellar arachnoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4022882			http://purl.obolibrary.org/obo/HP_0012489	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	biolink:PhenotypicFeature	hp	MSH:D015434|SNOMEDCT_US:22125009|UMLS:C0030326		Inflammation of fat tissue|Inflammation of adipose tissue	http://purl.obolibrary.org/obo/HP_0012490	Inflammation of adipose tissue.
HP:0012491	Abnormal dense tubular system	biolink:PhenotypicFeature	hp	UMLS:C4022881			http://purl.obolibrary.org/obo/HP_0012491	An anomaly of the intracellular membrane complexes known as the dense tubular system.
HP:0012492	Cerebral artery stenosis	biolink:PhenotypicFeature	hp	UMLS:C1504438		Narrowing of a cerebral artery	http://purl.obolibrary.org/obo/HP_0012492	Narrowing or constriction of the inner surface (lumen) of a cerebral artery.
HP:0012493	Middle cerebral artery stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21290001000004104|UMLS:C1504568			http://purl.obolibrary.org/obo/HP_0012493	Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.
HP:0012494	Anterior cerebral artery stenosis	biolink:PhenotypicFeature	hp	UMLS:C1504567			http://purl.obolibrary.org/obo/HP_0012494	Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.
HP:0012495	Posterior cerebral artery stenosis	biolink:PhenotypicFeature	hp	UMLS:C1504569			http://purl.obolibrary.org/obo/HP_0012495	Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.
HP:0012496	Reduced maximal inspiratory pressure	biolink:PhenotypicFeature	hp	UMLS:C4022880			http://purl.obolibrary.org/obo/HP_0012496	A decrease in the maximum amount of negative pressure a person can generate during an inhalation.
HP:0012497	Reduced maximal expiratory pressure	biolink:PhenotypicFeature	hp	UMLS:C4022879			http://purl.obolibrary.org/obo/HP_0012497	A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.
HP:0012498	Nuchal cord	biolink:PhenotypicFeature	hp	MSH:D053589|SNOMEDCT_US:302929008|UMLS:C0405124			http://purl.obolibrary.org/obo/HP_0012498	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	biolink:PhenotypicFeature	hp	UMLS:C4022878		Type B aortic dissection	http://purl.obolibrary.org/obo/HP_0012499	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	biolink:PhenotypicFeature	hp	UMLS:C4022877		Papillomatous papule	http://purl.obolibrary.org/obo/HP_0012500	A wartlike (with multiple small elevated projections) papule.
HP:0012501	Abnormality of the brainstem white matter	biolink:PhenotypicFeature	hp	UMLS:C4022876			http://purl.obolibrary.org/obo/HP_0012501	An anomaly of the white matter of brainstem.
HP:0012502	Abnormality of the internal capsule	biolink:PhenotypicFeature	hp	UMLS:C4022875			http://purl.obolibrary.org/obo/HP_0012502	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	biolink:PhenotypicFeature	hp	MSH:D010900|SNOMEDCT_US:399244003|UMLS:C0032002		disorder of pituitary gland	http://purl.obolibrary.org/obo/HP_0012503	An anomaly of the pituitary gland.
HP:0012504	Abnormal size of pituitary gland	biolink:PhenotypicFeature	hp	UMLS:C4022874			http://purl.obolibrary.org/obo/HP_0012504	A deviation from the normal size of the pituitary gland.
HP:0012505	Enlarged pituitary gland	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237718009|UMLS:C0342422			http://purl.obolibrary.org/obo/HP_0012505	An abnormally increased size of the pituitary gland.
HP:0012506	Small pituitary gland	biolink:PhenotypicFeature	hp	UMLS:C4022873			http://purl.obolibrary.org/obo/HP_0012506	An abnormally decreased size of the pituitary gland.
HP:0012507	Weakness of orbicularis oculi muscle	biolink:PhenotypicFeature	hp	UMLS:C1839030		Weakness of orbicularis oculi muscles	http://purl.obolibrary.org/obo/HP_0012507	Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.
HP:0012508	Metamorphopsia	biolink:PhenotypicFeature	hp	MSH:D014786|SNOMEDCT_US:42134006|UMLS:C0271185			http://purl.obolibrary.org/obo/HP_0012508	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	biolink:PhenotypicFeature	hp	UMLS:C4022872			http://purl.obolibrary.org/obo/HP_0012509	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	biolink:PhenotypicFeature	hp	UMLS:C4022871		Extra-axial CSF accumulation	http://purl.obolibrary.org/obo/HP_0012510	An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.
HP:0012511	Temporal optic disc pallor	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247220006|UMLS:C0344299			http://purl.obolibrary.org/obo/HP_0012511	A pale yellow discoloration of the temporal (lateral) portion of the optic disc.
HP:0012512	Diffuse optic disc pallor	biolink:PhenotypicFeature	hp	UMLS:C4022870			http://purl.obolibrary.org/obo/HP_0012512	A pale yellow discoloration of the entire optic disc.
HP:0012513	Upper limb pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:102556003|UMLS:C0239377		Upper limb pain	http://purl.obolibrary.org/obo/HP_0012513	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.
HP:0012514	Lower limb pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:10601006|UMLS:C0023222		Leg pain|Lower limb pain	http://purl.obolibrary.org/obo/HP_0012514	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
HP:0012515	Hip flexor weakness	biolink:PhenotypicFeature	hp	UMLS:C3279725			http://purl.obolibrary.org/obo/HP_0012515	Reduced ability to flex the femur, that is, to pull the knee upward.
HP:0012516	Tetralogy of Fallot with pulmonary atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253513005|UMLS:C0344882			http://purl.obolibrary.org/obo/HP_0012516	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	biolink:PhenotypicFeature	hp	UMLS:C4022869			http://purl.obolibrary.org/obo/HP_0012517	An abnormally decreased amount of catalase level.
HP:0012518	Abnormal circle of Willis morphology	biolink:PhenotypicFeature	hp	UMLS:C4022868		Abnormality of the cerebral arterial circle	http://purl.obolibrary.org/obo/HP_0012518	An anomaly of the circle of Willis, also known as the cerebral arterial circle.
HP:0012519	Hypoplastic posterior communicating artery	biolink:PhenotypicFeature	hp	UMLS:C4020720		Hypoplastic posterior communicating arteries	http://purl.obolibrary.org/obo/HP_0012519	Underdeveloped posterior communicating artery.
HP:0012520	Perivascular spaces	biolink:PhenotypicFeature	hp	UMLS:C1853618|UMLS:C4020719		Dilatation of Virchow-Robin spaces|Dilated Virchow-Robin spaces|Dilated cerebral perivascular spaces	http://purl.obolibrary.org/obo/HP_0012520	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	biolink:PhenotypicFeature	hp	UMLS:C4021084		Absent optic nerve|Aplastic optic nerve	http://purl.obolibrary.org/obo/HP_0012521	Congenital absence of the optic nerve.
HP:0012522	Spider hemangioma	biolink:PhenotypicFeature	hp	UMLS:C4022867			http://purl.obolibrary.org/obo/HP_0012522	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	biolink:PhenotypicFeature	hp	UMLS:C3665983			http://purl.obolibrary.org/obo/HP_0012523	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	biolink:PhenotypicFeature	hp	UMLS:C4022866			http://purl.obolibrary.org/obo/HP_0012524	A deviation from the normal discoid platelet shape.
HP:0012525	Abnormal alpha granule distribution	biolink:PhenotypicFeature	hp	UMLS:C4022865			http://purl.obolibrary.org/obo/HP_0012525	An anomalous location and arrangement of platelet alpha granules.
HP:0012526	Absence of alpha granules	biolink:PhenotypicFeature	hp	UMLS:C4022864		Grey platelets|Gray platelets	http://purl.obolibrary.org/obo/HP_0012526	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	biolink:PhenotypicFeature	hp	UMLS:C4022863			http://purl.obolibrary.org/obo/HP_0012527	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	biolink:PhenotypicFeature	hp	UMLS:C4022862			http://purl.obolibrary.org/obo/HP_0012528	A deviation from the normal count of alpha granules per thrombocyte.
HP:0012529	Abnormal dense granule content	biolink:PhenotypicFeature	hp	UMLS:C4021839			http://purl.obolibrary.org/obo/HP_0012529	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	biolink:PhenotypicFeature	hp	UMLS:C4022861			http://purl.obolibrary.org/obo/HP_0012530	A deviation from the normal count of dense granules per thrombocyte.
HP:0012531	Pain	biolink:PhenotypicFeature	hp	MSH:D010146|SNOMEDCT_US:22253000|UMLS:C0030193		Pain	http://purl.obolibrary.org/obo/HP_0012531	An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
HP:0012532	Chronic pain	biolink:PhenotypicFeature	hp	MSH:D059350|SNOMEDCT_US:82423001|UMLS:C0150055		Chronic pain|Long-lasting pain	http://purl.obolibrary.org/obo/HP_0012532	Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.
HP:0012533	Allodynia	biolink:PhenotypicFeature	hp	MSH:D006930|SNOMEDCT_US:247404004|UMLS:C0458247			http://purl.obolibrary.org/obo/HP_0012533	Pain due to a stimulus that does not normally provoke pain.
HP:0012534	Dysesthesia	biolink:PhenotypicFeature	hp	MSH:D010292|SNOMEDCT_US:279079003|UMLS:C0392699		Dysaesthesia|Dysesthesias	http://purl.obolibrary.org/obo/HP_0012534	Abnormal sensations with no apparent physical cause that are painful or unpleasant.
HP:0012535	Abnormal synaptic transmission	biolink:PhenotypicFeature	hp	UMLS:C4021083		Abnormality of neurotransmitter metabolism	http://purl.obolibrary.org/obo/HP_0012535	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	biolink:PhenotypicFeature	hp	UMLS:C4022860			http://purl.obolibrary.org/obo/HP_0012536	The presence of circulating autoantibodies to anticardiolipin in the mother.
HP:0012537	Food intolerance	biolink:PhenotypicFeature	hp	SNOMEDCT_US:235719002|UMLS:C0149696		Food intolerance|Non-allergic food hypersensitivity	http://purl.obolibrary.org/obo/HP_0012537	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	biolink:PhenotypicFeature	hp	MSH:D002446|SNOMEDCT_US:396331005|SNOMEDCT_US:441831003|UMLS:C0007570|UMLS:C0850024		Gluten intolerance|Gluten sensitivity	http://purl.obolibrary.org/obo/HP_0012538	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	biolink:PhenotypicFeature	hp	MSH:D008228|SNOMEDCT_US:118601006|SNOMEDCT_US:128929007|SNOMEDCT_US:188675007|SNOMEDCT_US:1929004|UMLS:C0024305			http://purl.obolibrary.org/obo/HP_0012539	A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.
HP:0012540	Axillary epidermoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4022859		Armpit cyst	http://purl.obolibrary.org/obo/HP_0012540	An epidermoid cyst in the armpit.
HP:0012541	Cephalohematoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:206200000|SNOMEDCT_US:83095000|UMLS:C0007722		Cephalohaematoma	http://purl.obolibrary.org/obo/HP_0012541	Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.
HP:0012542	Onychauxis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:30654002|UMLS:C0263536			http://purl.obolibrary.org/obo/HP_0012542	Thickened nails without deformity.
HP:0012543	Hemosiderinuria	biolink:PhenotypicFeature	hp	UMLS:C2721579			http://purl.obolibrary.org/obo/HP_0012543	The presence of hemosiderin in the urine.
HP:0012544	Elevated aldolase level	biolink:PhenotypicFeature	hp	UMLS:C4022858			http://purl.obolibrary.org/obo/HP_0012544	An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.
HP:0012545	Reduced aldolase level	biolink:PhenotypicFeature	hp	UMLS:C4022857			http://purl.obolibrary.org/obo/HP_0012545	An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.
HP:0012546	Skewed maternal X inactivation	biolink:PhenotypicFeature	hp	UMLS:C4022856			http://purl.obolibrary.org/obo/HP_0012546	A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.
HP:0012547	Abnormal involuntary eye movements	biolink:PhenotypicFeature	hp	UMLS:C4022855			http://purl.obolibrary.org/obo/HP_0012547	Anomalous movements of the eyes that occur without the subject wanting them to happen.
HP:0012548	Fatty replacement of skeletal muscle	biolink:PhenotypicFeature	hp	UMLS:C4021082		Skeletal muscle fatty infiltration	http://purl.obolibrary.org/obo/HP_0012548	Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
HP:0012549	Conjunctival lipoma	biolink:PhenotypicFeature	hp	NCIT:C3192|UMLS:C4022854			http://purl.obolibrary.org/obo/HP_0012549	A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.
HP:0012550	Colonic varices	biolink:PhenotypicFeature	hp	UMLS:C4022853			http://purl.obolibrary.org/obo/HP_0012550	The presence of varices (enlarged and convoluted blood vessels) in the colon.
HP:0012551	Absent neutrophil specific granules	biolink:PhenotypicFeature	hp	UMLS:C4022852			http://purl.obolibrary.org/obo/HP_0012551	Lack of specific granules in neutrophils.
HP:0012552	Increased neutrophil nuclear projections	biolink:PhenotypicFeature	hp	UMLS:C4022851			http://purl.obolibrary.org/obo/HP_0012552	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	biolink:PhenotypicFeature	hp	UMLS:C4022850		Small thumbnail|Underdeveloped thumbnail	http://purl.obolibrary.org/obo/HP_0012553	A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.
HP:0012554	Absent thumbnail	biolink:PhenotypicFeature	hp	UMLS:C4022849			http://purl.obolibrary.org/obo/HP_0012554	Absence of thumb nail.
HP:0012555	Absent nail of hallux	biolink:PhenotypicFeature	hp	UMLS:C4021081		Absent big toe nail|Absent nail of big toe	http://purl.obolibrary.org/obo/HP_0012555	Absent nail of big toe.
HP:0012556	Hyperbeta-alaninemia	biolink:PhenotypicFeature	hp	UMLS:C4021080		High blood beta-alanine levels|Hyperbeta-alaninemia|Hyperbetaalaninemia	http://purl.obolibrary.org/obo/HP_0012556	Increased concentration of beta-alanine in the blood.
HP:0012557	EEG with centrotemporal focal spike waves	biolink:PhenotypicFeature	hp	UMLS:C4022848			http://purl.obolibrary.org/obo/HP_0012557	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	biolink:PhenotypicFeature	hp	UMLS:C4022847			http://purl.obolibrary.org/obo/HP_0012558	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.
HP:0012559	Increased T3/T4 ratio	biolink:PhenotypicFeature	hp	UMLS:C4022846			http://purl.obolibrary.org/obo/HP_0012559	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.
HP:0012560	Decreased T3/T4 ratio	biolink:PhenotypicFeature	hp	UMLS:C4022845			http://purl.obolibrary.org/obo/HP_0012560	A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.
HP:0012561	Unicuspid aortic valve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253610004|UMLS:C0345001			http://purl.obolibrary.org/obo/HP_0012561	The presence of an aortic valve with one instead of the normal three cusps (flaps).
HP:0012562	Premature epimetaphyseal fusion in hand	biolink:PhenotypicFeature	hp	UMLS:C4022844			http://purl.obolibrary.org/obo/HP_0012562	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	biolink:PhenotypicFeature	hp	UMLS:C4022843			http://purl.obolibrary.org/obo/HP_0012563	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	biolink:PhenotypicFeature	hp	UMLS:C4022842			http://purl.obolibrary.org/obo/HP_0012564	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	biolink:PhenotypicFeature	hp	UMLS:C4021838			http://purl.obolibrary.org/obo/HP_0012565	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	biolink:PhenotypicFeature	hp	UMLS:C4022841			http://purl.obolibrary.org/obo/HP_0012566	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	biolink:PhenotypicFeature	hp	UMLS:C4022840			http://purl.obolibrary.org/obo/HP_0012567	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:700327003|UMLS:C2025810|UMLS:C3839997		Fullness of lower eyelid|Puffiness of lower eyelid|Swelling of lower eyelid|Lower eyelid oedema|Cellulitis of lower eyelid	http://purl.obolibrary.org/obo/HP_0012568	Edema in the region of the Lower eyelid.
HP:0012569	Delayed menarche	biolink:PhenotypicFeature	hp	UMLS:C0949173		Delayed start of first period	http://purl.obolibrary.org/obo/HP_0012569	First period after the age of 15 years.
HP:0012570	Synovial sarcoma	biolink:PhenotypicFeature	hp	MSH:D013584|SNOMEDCT_US:302851001|SNOMEDCT_US:63211008|UMLS:C0039101		Malignant synovioma	http://purl.obolibrary.org/obo/HP_0012570	A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.
HP:0012571	Ureter fissus	biolink:PhenotypicFeature	hp	ICD-10:Q62.5|UMLS:C4021079		Partially duplicated ureter	http://purl.obolibrary.org/obo/HP_0012571	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	biolink:PhenotypicFeature	hp	ICD-10:Q62.5|SNOMEDCT_US:49496001|UMLS:C0221365			http://purl.obolibrary.org/obo/HP_0012572	A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.
HP:0012573	Global proximal tubulopathy	biolink:PhenotypicFeature	hp	UMLS:C4022839			http://purl.obolibrary.org/obo/HP_0012573	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:125510009|UMLS:C0545017		Mesangial proliferation	http://purl.obolibrary.org/obo/HP_0012574	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	biolink:PhenotypicFeature	hp	UMLS:C4022838		Abnormality of the nephron	http://purl.obolibrary.org/obo/HP_0012575	A structural anomaly of the nephron.
HP:0012576	Glomerular C3 deposition	biolink:PhenotypicFeature	hp	UMLS:C4022837		Renal C3 deposition|C3 nephropathy	http://purl.obolibrary.org/obo/HP_0012576	The presence of complement 3 deposits in the glomerulus.
HP:0012577	Thin glomerular basement membrane	biolink:PhenotypicFeature	hp	UMLS:C3276821			http://purl.obolibrary.org/obo/HP_0012577	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	biolink:PhenotypicFeature	hp	MSH:D015433|SNOMEDCT_US:77182004|UMLS:C0017665		Membranous glomerulonephritis	http://purl.obolibrary.org/obo/HP_0012578	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	biolink:PhenotypicFeature	hp	MSH:D009402|SNOMEDCT_US:44785005|UMLS:C0027721		Minimal change disease|Minimal change nephropathy	http://purl.obolibrary.org/obo/HP_0012579	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	biolink:PhenotypicFeature	hp	UMLS:C3671880		Ca phosphate nephrolithiasis|Ca phosphate urolithiasis|Ca2+ phosphate nephrolitiasis|Ca2+ phosphate urolithiasis|Calcium phosphate urolithiasis	http://purl.obolibrary.org/obo/HP_0012580	The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.
HP:0012581	Simple renal cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77945009|UMLS:C0268800|UMLS:C4022836		Simple kidney cyst|Solitary renal cyst	http://purl.obolibrary.org/obo/HP_0012581	An isolated cyst of the kidney.
HP:0012582	Bilateral renal dysplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204950001|UMLS:C0431698			http://purl.obolibrary.org/obo/HP_0012582	A bilateral form of developmental dysplasia of the kidney.
HP:0012583	Unilateral renal hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204948009|UMLS:C0431691		Small kidney on one side|Underdeveloped kidney on one side	http://purl.obolibrary.org/obo/HP_0012583	One sided hypoplasia of the kidney.
HP:0012584	Bilateral renal hypoplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:268232000|UMLS:C0431692			http://purl.obolibrary.org/obo/HP_0012584	Two sided hypoplasia of the kidney.
HP:0012585	Renal atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197659005|UMLS:C0341698		Kidney degeneration	http://purl.obolibrary.org/obo/HP_0012585	Atrophy of the kidney.
HP:0012586	Bilateral renal atrophy	biolink:PhenotypicFeature	hp	UMLS:C4022835		Bilateral kidney degeneration	http://purl.obolibrary.org/obo/HP_0012586	A two-sided form of atrophy of the kidney.
HP:0012587	Macroscopic hematuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197941005|UMLS:C0473237		Bloody urine|Gross hematuria	http://purl.obolibrary.org/obo/HP_0012587	Hematuria that is visible upon inspection of the urine.
HP:0012588	Steroid-resistant nephrotic syndrome	biolink:PhenotypicFeature	hp	SNOMEDCT_US:236381000|UMLS:C0403397			http://purl.obolibrary.org/obo/HP_0012588	A form of nephrotic syndrome that does not respond to treatment with steroid medication.
HP:0012589	Multidrug-resistant nephrotic syndrome	biolink:PhenotypicFeature	hp	UMLS:C4022834			http://purl.obolibrary.org/obo/HP_0012589	A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.
HP:0012590	Abnormal urine output	biolink:PhenotypicFeature	hp	UMLS:C3693260			http://purl.obolibrary.org/obo/HP_0012590	An abnormal amount of urine production.
HP:0012591	Abnormal urinary electrolyte concentration	biolink:PhenotypicFeature	hp	UMLS:C4022833		Urinary electrolyte imbalance	http://purl.obolibrary.org/obo/HP_0012591	An abnormality in the concentration of electrolytes in the urine.
HP:0012592	Albuminuria	biolink:PhenotypicFeature	hp	MSH:D000419|SNOMEDCT_US:274769005|UMLS:C0001925			http://purl.obolibrary.org/obo/HP_0012592	Increased concentration of albumin in the urine.
HP:0012593	Nephrotic range proteinuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:264867001|UMLS:C0445118			http://purl.obolibrary.org/obo/HP_0012593	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:312975006|UMLS:C0730345|UMLS:C1654921		High urine albumin levels|Microalbuminuria	http://purl.obolibrary.org/obo/HP_0012594	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	biolink:PhenotypicFeature	hp	UMLS:C4022832			http://purl.obolibrary.org/obo/HP_0012595	Mildly increased levels of protein in the urine (150-500 mg per day in adults).
HP:0012596	Moderate proteinuria	biolink:PhenotypicFeature	hp	UMLS:C4022831			http://purl.obolibrary.org/obo/HP_0012596	Moderately increased levels of protein in the urine (500-1000 mg per day in adults).
HP:0012597	Heavy proteinuria	biolink:PhenotypicFeature	hp	UMLS:C4022830		Severly high blood protein levels	http://purl.obolibrary.org/obo/HP_0012597	Severely increased levels of protein in the urine (1000-3000 mg per day in adults).
HP:0012598	Abnormal urine potassium concentration	biolink:PhenotypicFeature	hp	UMLS:C4022829		Abnormal urine K concentration	http://purl.obolibrary.org/obo/HP_0012598	An abnormal concentration of potassium(1+) in the urine.
HP:0012599	Abnormal urine phosphate concentration	biolink:PhenotypicFeature	hp	UMLS:C4022828			http://purl.obolibrary.org/obo/HP_0012599	An abnormal phosphate concentration in the urine.
HP:0012600	Abnormal urine chloride concentration	biolink:PhenotypicFeature	hp	UMLS:C4022827		Abnormal urine Cl concentration|Abnormal urine Cl- concentration	http://purl.obolibrary.org/obo/HP_0012600	An abnormal concentration of chloride in the urine.
HP:0012601	Hypochloriduria	biolink:PhenotypicFeature	hp	UMLS:C4021078		Low urine chloride levels|Decreased urinary chloride	http://purl.obolibrary.org/obo/HP_0012601	An decreased concentration of chloride in the urine.
HP:0012602	Renal chloride wasting	biolink:PhenotypicFeature	hp	UMLS:C4022826		Renal Cl wasting|Renal Cl- wasting|Kidney chloride wasting	http://purl.obolibrary.org/obo/HP_0012602	High urine chloride in the presence of hypochloridemia.
HP:0012603	Abnormal urine sodium concentration	biolink:PhenotypicFeature	hp	UMLS:C4022825		Abnormal urine Na concentration|Abnormal urine Na+ levels	http://purl.obolibrary.org/obo/HP_0012603	An abnormal concentration of sodium in the urine.
HP:0012604	Hyponatriuria	biolink:PhenotypicFeature	hp	UMLS:C4022824		Low urine sodium levels	http://purl.obolibrary.org/obo/HP_0012604	An abnormally decreased sodium concentration in the urine.
HP:0012605	Hypernatriuria	biolink:PhenotypicFeature	hp	UMLS:C3671887		Increased urinary sodium	http://purl.obolibrary.org/obo/HP_0012605	An increased concentration of sodium(1+) in the urine.
HP:0012606	Renal sodium wasting	biolink:PhenotypicFeature	hp	UMLS:C2748576		Renal Na wasting|Renal Na+ wasting|Kidney sodium wasting	http://purl.obolibrary.org/obo/HP_0012606	An abnormally increased sodium concentration in the urine in the presence of hyponatremia.
HP:0012607	Abnormal urine magnesium concentration	biolink:PhenotypicFeature	hp	UMLS:C4022823		Abnormal urine magnesium concentration	http://purl.obolibrary.org/obo/HP_0012607	An abnormal concentration of magnesium the urine.
HP:0012608	Hypermagnesiuria	biolink:PhenotypicFeature	hp	UMLS:C2673443			http://purl.obolibrary.org/obo/HP_0012608	An increased concentration of magnesium the urine.
HP:0012609	Hypomagnesiuria	biolink:PhenotypicFeature	hp	UMLS:C3203528		Decreased urine magnesium|Low urine magnesium levels	http://purl.obolibrary.org/obo/HP_0012609	An decreased concentration of magnesium the urine.
HP:0012610	Abnormality of urinary uric acid concentration	biolink:PhenotypicFeature	hp	UMLS:C4022822			http://purl.obolibrary.org/obo/HP_0012610	Abnormal concentration of urate in the urine.
HP:0012611	Increased urinary urate	biolink:PhenotypicFeature	hp	UMLS:C0878672			http://purl.obolibrary.org/obo/HP_0012611	Elevated concentration of urate in the urine.
HP:0012612	Abnormal urinary sulfate concentration	biolink:PhenotypicFeature	hp	UMLS:C4022821		Abnormal urinary sulphate concentration	http://purl.obolibrary.org/obo/HP_0012612	Abnormal concentration of sulfate in the urine.
HP:0012613	Increased urinary sulfate	biolink:PhenotypicFeature	hp	UMLS:C4022820		Increased urinary sulphate	http://purl.obolibrary.org/obo/HP_0012613	Elevated concentration of SO4(2-), i.e., sulfate, in the urine.
HP:0012614	Abnormal urine cytology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:310439007|UMLS:C0587955			http://purl.obolibrary.org/obo/HP_0012614	An anomalous finding in the examination of the urine for cells.
HP:0012615	Cylindruria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5277004|UMLS:C0151990		Urinary casts	http://purl.obolibrary.org/obo/HP_0012615	The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.
HP:0012616	Leukocyte cylindruria	biolink:PhenotypicFeature	hp	UMLS:C4022819		White blood cell casts	http://purl.obolibrary.org/obo/HP_0012616	Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.
HP:0012617	Erythrocyte cylindruria	biolink:PhenotypicFeature	hp	UMLS:C4022818		Red blood cell casts|Urinary erythrocyte cast	http://purl.obolibrary.org/obo/HP_0012617	Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.
HP:0012618	Urachal cyst	biolink:PhenotypicFeature	hp	MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915			http://purl.obolibrary.org/obo/HP_0012618	A cyst located along the allantois canal.
HP:0012619	Multiple bladder diverticula	biolink:PhenotypicFeature	hp	UMLS:C4022817		Multiple pouches in bladder wall	http://purl.obolibrary.org/obo/HP_0012619	Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.
HP:0012620	Cloacal abnormality	biolink:PhenotypicFeature	hp	UMLS:C4022816			http://purl.obolibrary.org/obo/HP_0012620	A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.
HP:0012621	Persistent cloaca	biolink:PhenotypicFeature	hp	SNOMEDCT_US:74829002|UMLS:C0266225		Cloacogenic bladder	http://purl.obolibrary.org/obo/HP_0012621	Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.
HP:0012622	Chronic kidney disease	biolink:PhenotypicFeature	hp	MSH:D051436|SNOMEDCT_US:709044004|UMLS:C0748318|UMLS:C1561643		Chronic kidney disease|Loss of renal function|Progressive renal failure|Progressive renal insufficiency|Renal failure, progressive|Renal insufficiency, progressive	http://purl.obolibrary.org/obo/HP_0012622	Functional anomaly of the kidney persisting for at least three months.
HP:0012623	Stage 1 chronic kidney disease	biolink:PhenotypicFeature	hp	SNOMEDCT_US:431855005|UMLS:C2316401			http://purl.obolibrary.org/obo/HP_0012623	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:431856006|UMLS:C2316786			http://purl.obolibrary.org/obo/HP_0012624	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:433144002|UMLS:C2316787			http://purl.obolibrary.org/obo/HP_0012625	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:431857002|UMLS:C2317473		Stage 4 chronic kidney disease	http://purl.obolibrary.org/obo/HP_0012626	A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).
HP:0012627	Pseudoexfoliation	biolink:PhenotypicFeature	hp	UMLS:C4022815			http://purl.obolibrary.org/obo/HP_0012627	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	biolink:PhenotypicFeature	hp	UMLS:C4021077		Abnormality of the suspensory ligament of lens|Abnormality of zinn's membrane|Ciliary zonule abnormality|Zonule of zinn abnormality	http://purl.obolibrary.org/obo/HP_0012628	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:116669003|UMLS:C2939415		Trembling eye lens|Phacodonesis	http://purl.obolibrary.org/obo/HP_0012629	Tremulousness (trembling) of the lens of the eye.
HP:0012630	Abnormal trabecular meshwork morphology	biolink:PhenotypicFeature	hp	UMLS:C4022814		Abnormality of the trabecular meshwork	http://purl.obolibrary.org/obo/HP_0012630	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	biolink:PhenotypicFeature	hp	UMLS:C3805899			http://purl.obolibrary.org/obo/HP_0012631	Accumulation of abnormal amounts of pigment within the trabecular meshwork.
HP:0012632	Abnormal intraocular pressure	biolink:PhenotypicFeature	hp	MP:0005257|SNOMEDCT_US:24075007|UMLS:C0520999		Abnormal eye pressure|Abnormal intraocular pressure	http://purl.obolibrary.org/obo/HP_0012632	An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.
HP:0012633	Asymmetry of intraocular pressure	biolink:PhenotypicFeature	hp	UMLS:C3805901			http://purl.obolibrary.org/obo/HP_0012633	A difference in the amount of intraocular pressure in the right and left eye.
HP:0012634	Iris pigment dispersion	biolink:PhenotypicFeature	hp	UMLS:C4022813			http://purl.obolibrary.org/obo/HP_0012634	Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.
HP:0012635	Iris hypoperfusion	biolink:PhenotypicFeature	hp	UMLS:C4022812			http://purl.obolibrary.org/obo/HP_0012635	Reduction in the amount of blood flow to the iris.
HP:0012636	Retinal vein occlusion	biolink:PhenotypicFeature	hp	MSH:D012170|SNOMEDCT_US:46085004|UMLS:C0035328			http://purl.obolibrary.org/obo/HP_0012636	Blockage of the retinal vein.
HP:0012637	Renal calcium wasting	biolink:PhenotypicFeature	hp	UMLS:C2673441		Renal Ca wasting|Renal Ca2+ wasting|Kidney Ca wasting|Kidney Ca2+ wasting|Kidney calcium wasting	http://purl.obolibrary.org/obo/HP_0012637	High urine calcium in the presence of hypocalcemia.
HP:0012638	Abnormal nervous system physiology	biolink:PhenotypicFeature	hp	UMLS:C4022811		Abnormality of nervous system physiology	http://purl.obolibrary.org/obo/HP_0012638	A functional anomaly of the nervous system.
HP:0012639	Abnormal nervous system morphology	biolink:PhenotypicFeature	hp	Fyler:4135|Fyler:4300|UMLS:C4022810		Abnormal shape of nervous system|Abnormal nervous system morphology|Abnormality of nervous system morphology	http://purl.obolibrary.org/obo/HP_0012639	A structural anomaly of the nervous system.
HP:0012640	Abnormality of intracranial pressure	biolink:PhenotypicFeature	hp	UMLS:C4022809			http://purl.obolibrary.org/obo/HP_0012640	A deviation from the norm of the intracranial pressure.
HP:0012641	Decreased intracranial pressure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:167714004|SNOMEDCT_US:277657001|UMLS:C0456892		Intracranial hypotension	http://purl.obolibrary.org/obo/HP_0012641	A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
HP:0012642	Cerebellar agenesis	biolink:PhenotypicFeature	hp	UMLS:C4022808			http://purl.obolibrary.org/obo/HP_0012642	Lack of development of the cerebellum.
HP:0012643	Foveal hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C4022807			http://purl.obolibrary.org/obo/HP_0012643	Decreased amount of pigmentation in the fovea centralis.
HP:0012644	Increased caudate lactate level	biolink:PhenotypicFeature	hp	UMLS:C4022806			http://purl.obolibrary.org/obo/HP_0012644	An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.
HP:0012645	Enlarged peripheral nerve	biolink:PhenotypicFeature	hp	UMLS:C2675074		Enlarged peripheral nerves	http://purl.obolibrary.org/obo/HP_0012645	Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.
HP:0012646	Retractile testis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21779006|UMLS:C0520578		Retractile testicle	http://purl.obolibrary.org/obo/HP_0012646	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	biolink:PhenotypicFeature	hp	UMLS:C4022805		Abnormal inflammatory response	http://purl.obolibrary.org/obo/HP_0012647	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	biolink:PhenotypicFeature	hp	UMLS:C4022804		Decreased inflammatory response	http://purl.obolibrary.org/obo/HP_0012648	An abnormal reduction in the inflammatory response to injury or infection.
HP:0012649	Increased inflammatory response	biolink:PhenotypicFeature	hp	UMLS:C4022803			http://purl.obolibrary.org/obo/HP_0012649	A abnormal increase in the inflammatory response to injury or infection.
HP:0012650	Perisylvian polymicrogyria	biolink:PhenotypicFeature	hp	UMLS:C3279675			http://purl.obolibrary.org/obo/HP_0012650	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	biolink:PhenotypicFeature	hp	UMLS:C0877217			http://purl.obolibrary.org/obo/HP_0012651	A severe form of gait ataxia such that an affected person cannot walk at all.
HP:0012652	Exercise-induced asthma	biolink:PhenotypicFeature	hp	MSH:D001250|SNOMEDCT_US:31387002|UMLS:C0004099		Exercise-induced asthma	http://purl.obolibrary.org/obo/HP_0012652	Asthma attacks following exercise.
HP:0012653	Status asthmaticus	biolink:PhenotypicFeature	hp	MSH:D013224|SNOMEDCT_US:708090002|UMLS:C0038218		Acute severe asthma	http://purl.obolibrary.org/obo/HP_0012653	Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.
HP:0012654	Abnormal CSF dopamine level	biolink:PhenotypicFeature	hp	UMLS:C4022802			http://purl.obolibrary.org/obo/HP_0012654	Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).
HP:0012655	Elevated CSF dopamine level	biolink:PhenotypicFeature	hp	UMLS:C4022801			http://purl.obolibrary.org/obo/HP_0012655	Increased concentration of dopamine in the cerebrospinal fluid (CSF).
HP:0012656	Reduced CSF dopamine level	biolink:PhenotypicFeature	hp	UMLS:C4022800			http://purl.obolibrary.org/obo/HP_0012656	Decreased concentration of dopamine in the cerebrospinal fluid (CSF).
HP:0012657	Abnormal brain positron emission tomography	biolink:PhenotypicFeature	hp	UMLS:C4022799		Abnormal brain PET scan	http://purl.obolibrary.org/obo/HP_0012657	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	biolink:PhenotypicFeature	hp	UMLS:C4022798		Abnormal brain FDG PET scan	http://purl.obolibrary.org/obo/HP_0012658	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	biolink:PhenotypicFeature	hp	UMLS:C4022797			http://purl.obolibrary.org/obo/HP_0012659	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	biolink:PhenotypicFeature	hp	UMLS:C4022796			http://purl.obolibrary.org/obo/HP_0012660	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	biolink:PhenotypicFeature	hp	UMLS:C4022795			http://purl.obolibrary.org/obo/HP_0012661	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	biolink:PhenotypicFeature	hp	UMLS:C4022794			http://purl.obolibrary.org/obo/HP_0012662	Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.
HP:0012663	Mildly reduced ejection fraction	biolink:PhenotypicFeature	hp	UMLS:C4022793			http://purl.obolibrary.org/obo/HP_0012663	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 ejection fraction	biolink:PhenotypicFeature	hp	UMLS:C4022792			http://purl.obolibrary.org/obo/HP_0012664	A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
HP:0012665	Moderately reduced ejection fraction	biolink:PhenotypicFeature	hp	UMLS:C4022791			http://purl.obolibrary.org/obo/HP_0012665	A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle.
HP:0012666	Severely reduced ejection fraction	biolink:PhenotypicFeature	hp	UMLS:C4022790			http://purl.obolibrary.org/obo/HP_0012666	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	biolink:PhenotypicFeature	hp	UMLS:C4022789			http://purl.obolibrary.org/obo/HP_0012667	An abnormal motion of a segment of the left ventricle during the cardiac cycle.
HP:0012668	Vasovagal syncope	biolink:PhenotypicFeature	hp	MSH:D013575|MSH:D019462|SNOMEDCT_US:234167006|SNOMEDCT_US:398652001|SNOMEDCT_US:398665005|UMLS:C0042420|UMLS:C0340854		Neurocardiogenic syncope|Reflex syncope|Situational syncope	http://purl.obolibrary.org/obo/HP_0012668	
HP:0012669	Carotid sinus syncope	biolink:PhenotypicFeature	hp	MSH:D013575|SNOMEDCT_US:51723007|UMLS:C0221046			http://purl.obolibrary.org/obo/HP_0012669	An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.
HP:0012670	Orthostatic syncope	biolink:PhenotypicFeature	hp	UMLS:C0749201			http://purl.obolibrary.org/obo/HP_0012670	Syncope following a quick change in position from lying down to standing.
HP:0012671	Abulia	biolink:PhenotypicFeature	hp	UMLS:C0919974		Aboulia	http://purl.obolibrary.org/obo/HP_0012671	Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.
HP:0012672	Akinetic mutism	biolink:PhenotypicFeature	hp	MSH:D000405|SNOMEDCT_US:53333005|UMLS:C0001889			http://purl.obolibrary.org/obo/HP_0012672	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	biolink:PhenotypicFeature	hp	UMLS:C4022788		Absent upper vagina	http://purl.obolibrary.org/obo/HP_0012673	A failure to develop of the upper vagina.
HP:0012674	Aplasia of the lower vagina	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253834007|UMLS:C0431646		Absent lower vagina|Agenesis of the lower vagina	http://purl.obolibrary.org/obo/HP_0012674	A failure to develop of the lower part of the vagina.
HP:0012675	Iron accumulation in brain	biolink:PhenotypicFeature	hp	UMLS:C4021076		Iron accumulation in brain|Brain iron deposition	http://purl.obolibrary.org/obo/HP_0012675	An abnormal build up of iron (Fe) in brain tissue.
HP:0012676	Copper accumulation in brain	biolink:PhenotypicFeature	hp	UMLS:C4022787		Copper accumulation in brain|Brain copper accumulation	http://purl.obolibrary.org/obo/HP_0012676	An anomalous build up of copper (Cu) in the brain.
HP:0012677	Iron accumulation in globus pallidus	biolink:PhenotypicFeature	hp	UMLS:C4022786			http://purl.obolibrary.org/obo/HP_0012677	An abnormal build up of iron (Fe) in the globus pallidus.
HP:0012678	Iron accumulation in substantia nigra	biolink:PhenotypicFeature	hp	UMLS:C4022785			http://purl.obolibrary.org/obo/HP_0012678	An anomalous build up of iron (Fe) in the substantia nigra.
HP:0012679	Widened interpedicular distance	biolink:PhenotypicFeature	hp	UMLS:C4022784			http://purl.obolibrary.org/obo/HP_0012679	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	biolink:PhenotypicFeature	hp	UMLS:C4022783			http://purl.obolibrary.org/obo/HP_0012680	An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.
HP:0012681	Abnormality of pineal morphology	biolink:PhenotypicFeature	hp	UMLS:C4022782			http://purl.obolibrary.org/obo/HP_0012681	A structural abnormality of the pineal gland.
HP:0012682	Pineal gland calcification	biolink:PhenotypicFeature	hp	UMLS:C1398718			http://purl.obolibrary.org/obo/HP_0012682	Accumulation of calcium salts in the pineal gland.
HP:0012683	Pineal cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:413099000|UMLS:C1335411			http://purl.obolibrary.org/obo/HP_0012683	A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.
HP:0012684	Abnormal pineal volume	biolink:PhenotypicFeature	hp	UMLS:C4022781			http://purl.obolibrary.org/obo/HP_0012684	An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.
HP:0012685	Decreased pineal volume	biolink:PhenotypicFeature	hp	UMLS:C4022780			http://purl.obolibrary.org/obo/HP_0012685	An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.
HP:0012686	Increased pineal volume	biolink:PhenotypicFeature	hp	UMLS:C4022779			http://purl.obolibrary.org/obo/HP_0012686	An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.
HP:0012687	Agenesis of pineal gland	biolink:PhenotypicFeature	hp	UMLS:C3553078			http://purl.obolibrary.org/obo/HP_0012687	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	biolink:PhenotypicFeature	hp	UMLS:C4022778			http://purl.obolibrary.org/obo/HP_0012688	A functional abnormality of the pineal gland.
HP:0012689	Abnormal pineal melatonin secretion	biolink:PhenotypicFeature	hp	UMLS:C4022777			http://purl.obolibrary.org/obo/HP_0012689	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	biolink:PhenotypicFeature	hp	UMLS:C4022776			http://purl.obolibrary.org/obo/HP_0012690	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	biolink:PhenotypicFeature	hp	UMLS:C4022775			http://purl.obolibrary.org/obo/HP_0012691	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	biolink:PhenotypicFeature	hp	UMLS:C4022774			http://purl.obolibrary.org/obo/HP_0012692	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	biolink:PhenotypicFeature	hp	UMLS:C4022773			http://purl.obolibrary.org/obo/HP_0012693	Deviation from the normal range of size of the thalamus.
HP:0012694	Enlarged thalamic volume	biolink:PhenotypicFeature	hp	UMLS:C4022772			http://purl.obolibrary.org/obo/HP_0012694	An increase in the quantity of space occupied by the thalamus.
HP:0012695	Decreased thalamic volume	biolink:PhenotypicFeature	hp	UMLS:C4022771			http://purl.obolibrary.org/obo/HP_0012695	A reduction in the quantity of space occupied by the thalamus.
HP:0012696	Abnormal thalamic MRI signal intensity	biolink:PhenotypicFeature	hp	UMLS:C4022770			http://purl.obolibrary.org/obo/HP_0012696	A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.
HP:0012697	Small basal ganglia	biolink:PhenotypicFeature	hp	UMLS:C4022769			http://purl.obolibrary.org/obo/HP_0012697	Decreased size of the basal ganglia.
HP:0012698	Cerebellar gliosis	biolink:PhenotypicFeature	hp	UMLS:C4022768			http://purl.obolibrary.org/obo/HP_0012698	Focal proliferation of glial cells in the cerebellum.
HP:0012699	Anomaly of lower limb diaphyses	biolink:PhenotypicFeature	hp	UMLS:C4022767		Anomaly of shaft of long bone of lower limb	http://purl.obolibrary.org/obo/HP_0012699	A structural abnormality of a diaphysis of the leg.
HP:0012700	Abnormal large intestine physiology	biolink:PhenotypicFeature	hp	UMLS:C4022766			http://purl.obolibrary.org/obo/HP_0012700	A functional anomaly of the large intestine.
HP:0012701	Bowel urgency	biolink:PhenotypicFeature	hp	SNOMEDCT_US:71820002|UMLS:C0426636		Fecal urgency	http://purl.obolibrary.org/obo/HP_0012701	A sudden, irresistible need to have a bowel movement.
HP:0012702	Tenesmus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:267053000|SNOMEDCT_US:6548007|UMLS:C0232726			http://purl.obolibrary.org/obo/HP_0012702	A repeated, painful urge to defecate without excreting stool.
HP:0012703	Abnormal subarachnoid space morphology	biolink:PhenotypicFeature	hp	UMLS:C4022765		Abnormality of the subarachnoid space	http://purl.obolibrary.org/obo/HP_0012703	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	biolink:PhenotypicFeature	hp	UMLS:C1846151		Enlarged subarachnoid space|Widened subarachnoid spaces	http://purl.obolibrary.org/obo/HP_0012704	An increase in size of the anatomic space between the arachnoid membrane and pia mater.
HP:0012705	Abnormal metabolic brain imaging by MRS	biolink:PhenotypicFeature	hp	UMLS:C4022764			http://purl.obolibrary.org/obo/HP_0012705	An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012706	Elevated brain choline level by MRS	biolink:PhenotypicFeature	hp	UMLS:C4022763			http://purl.obolibrary.org/obo/HP_0012706	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	biolink:PhenotypicFeature	hp	UMLS:C4022762			http://purl.obolibrary.org/obo/HP_0012707	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	biolink:PhenotypicFeature	hp	UMLS:C4022761		Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0012708	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	biolink:PhenotypicFeature	hp	UMLS:C4022760			http://purl.obolibrary.org/obo/HP_0012709	A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0012710	Ingrown nail	biolink:PhenotypicFeature	hp	MSH:D009263|SNOMEDCT_US:400097005|SNOMEDCT_US:400200009|UMLS:C0027343		Ingrown nail	http://purl.obolibrary.org/obo/HP_0012710	Excessive growth of a nail laterally into the nail fold.
HP:0012711	Delayed ossification of vertebral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C4022759|UMLS:C4280312		Delayed maturation of the end part of the vertebral bone	http://purl.obolibrary.org/obo/HP_0012711	A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.
HP:0012712	Mild hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4022758		Mild hearing impairment	http://purl.obolibrary.org/obo/HP_0012712	The presence of a mild form of hearing impairment.
HP:0012713	Moderate hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4022757		Moderate hearing impairment	http://purl.obolibrary.org/obo/HP_0012713	The presence of a moderate form of hearing impairment.
HP:0012714	Severe hearing impairment	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3561000119106|UMLS:C3874334		Severe deafness|Severe hearing impairment|Severe hearing loss	http://purl.obolibrary.org/obo/HP_0012714	A severe form of hearing impairment.
HP:0012715	Profound hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4022756		Profound hearing impairment	http://purl.obolibrary.org/obo/HP_0012715	A profound (essentially complete) form of hearing impairment.
HP:0012716	Moderate conductive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021075		Conductive hearing loss, moderate	http://purl.obolibrary.org/obo/HP_0012716	The presence of a moderate form of conductive hearing impairment.
HP:0012717	Severe conductive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4021074		Conductive hearing loss, severe	http://purl.obolibrary.org/obo/HP_0012717	A severe form of conductive hearing impairment.
HP:0012718	Morphological abnormality of the gastrointestinal tract	biolink:PhenotypicFeature	hp	UMLS:C4021073		Morphological abnormality of the GI tract|Abnormal shape of the digestive system|Morphological anomaly of the digestive system	http://purl.obolibrary.org/obo/HP_0012718	Abnormal structure of the gastrointestinal tract.
HP:0012719	Functional abnormality of the gastrointestinal tract	biolink:PhenotypicFeature	hp	UMLS:C4022755		Functional abnormality of the GI tract|GI dysfunction	http://purl.obolibrary.org/obo/HP_0012719	Abnormal functionality of the gastrointestinal tract.
HP:0012720	Neoplasm of the nose	biolink:PhenotypicFeature	hp	MSH:D009669|NCIT:C3262|SNOMEDCT_US:126669004|UMLS:C0028433|UMLS:C0751394		Nasal tumor|Nose cancer|Tumor of the nose|Nasal neoplasm|Neoplasia of the nose	http://purl.obolibrary.org/obo/HP_0012720	Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.
HP:0012721	Venous malformation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297222002|UMLS:C2937220		Venous malformations	http://purl.obolibrary.org/obo/HP_0012721	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	biolink:PhenotypicFeature	hp	MSH:D006327|SNOMEDCT_US:233916004|UMLS:C0018794			http://purl.obolibrary.org/obo/HP_0012722	Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
HP:0012723	Sinoatrial block	biolink:PhenotypicFeature	hp	Fyler:7014|MSH:D012848|SNOMEDCT_US:65778007|UMLS:C0037188			http://purl.obolibrary.org/obo/HP_0012723	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:700339006|UMLS:C2025988|UMLS:C3839407		Fullness of upper eyelid|Puffiness of upper eyelid|Swelling of upper eyelid|Upper eyelid oedema|Cellulitis of upper eyelid	http://purl.obolibrary.org/obo/HP_0012724	Edema in the region of the upper eyelid.
HP:0012725	Cutaneous syndactyly	biolink:PhenotypicFeature	hp	UMLS:C1861921		Cutaneous syndactyly of digits|Syndactyly, cutaneous	http://purl.obolibrary.org/obo/HP_0012725	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	biolink:PhenotypicFeature	hp	UMLS:C4022754		Recurrent low potassium	http://purl.obolibrary.org/obo/HP_0012726	An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.
HP:0012727	Thoracic aortic aneurysm	biolink:PhenotypicFeature	hp	MSH:D017545|SNOMEDCT_US:433068007|UMLS:C0162872		Dilatation of the thoracic aorta	http://purl.obolibrary.org/obo/HP_0012727	An abnormal localized widening (dilatation) of the thoracic aorta.
HP:0012728	Fusiform descending thoracic aortic aneurysm	biolink:PhenotypicFeature	hp	UMLS:C4022753		Dilatation of the fusiform descending thoracic aorta	http://purl.obolibrary.org/obo/HP_0012728	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	biolink:PhenotypicFeature	hp	UMLS:C4022752		Dilatation of the saccular descending thoracic aorta	http://purl.obolibrary.org/obo/HP_0012729	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:74788000|UMLS:C0158663		Missing tongue|Failure of development of tongue|Absence of tongue	http://purl.obolibrary.org/obo/HP_0012730	Absence of the tongue owing to a developmental abnormality.
HP:0012731	Ectopic anterior pituitary gland	biolink:PhenotypicFeature	hp	UMLS:C4022751			http://purl.obolibrary.org/obo/HP_0012731	Abnormal anatomic location of the anterior pituitary gland.
HP:0012732	Anorectal anomaly	biolink:PhenotypicFeature	hp	MSH:D000071056|SNOMEDCT_US:33225004|UMLS:C3495676			http://purl.obolibrary.org/obo/HP_0012732	An abnormality of the anus or rectum.
HP:0012733	Macule	biolink:PhenotypicFeature	hp	SNOMEDCT_US:112629002|UMLS:C0332573		Flat, discolored area of skin	http://purl.obolibrary.org/obo/HP_0012733	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20825002|UMLS:C0271713		Ketotic low blood sugar	http://purl.obolibrary.org/obo/HP_0012734	Low blood glucose is accompanied by elevated levels of ketone bodies in the body.
HP:0012735	Cough	biolink:PhenotypicFeature	hp	MSH:D003371|SNOMEDCT_US:263731006|SNOMEDCT_US:272039006|SNOMEDCT_US:49727002|UMLS:C0010200		Cough|Coughing	http://purl.obolibrary.org/obo/HP_0012735	A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
HP:0012736	Profound global developmental delay	biolink:PhenotypicFeature	hp	UMLS:C1855773|UMLS:C3553450		Global developmental delay, profound|Psychomotor retardation, profound	http://purl.obolibrary.org/obo/HP_0012736	A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
HP:0012737	Small intestinal polyp	biolink:PhenotypicFeature	hp	SNOMEDCT_US:399723004|UMLS:C1302645			http://purl.obolibrary.org/obo/HP_0012737	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	biolink:PhenotypicFeature	hp	UMLS:C4021072|UMLS:C4280311		Absent canines|Absence of canine|Absence of eye tooth|Missing canine|Missing eye tooth|Failure of development of canine|Failure of development of eye tooth	http://purl.obolibrary.org/obo/HP_0012738	Agenesis of canine tooth.
HP:0012739	Agenesis of the small intestine	biolink:PhenotypicFeature	hp	UMLS:C4021071		Undeveloped small intestine|Small bowel agenesis	http://purl.obolibrary.org/obo/HP_0012739	Failure to develop of the small intestine.
HP:0012740	Papilloma	biolink:PhenotypicFeature	hp	MSH:D010212|SNOMEDCT_US:23730008|SNOMEDCT_US:711329002|UMLS:C0030354			http://purl.obolibrary.org/obo/HP_0012740	A tumor of the skin or mucous membrane with finger-like projections.
HP:0012741	Unilateral cryptorchidism	biolink:PhenotypicFeature	hp	MSH:D003456|SNOMEDCT_US:268227001|UMLS:C0431664		Cryptorchidism, unilateral	http://purl.obolibrary.org/obo/HP_0012741	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	biolink:PhenotypicFeature	hp	UMLS:C4022750		Thin fingernail	http://purl.obolibrary.org/obo/HP_0012742	Fingernail that appears thin when viewed on end.
HP:0012743	Abdominal obesity	biolink:PhenotypicFeature	hp	MSH:D056128|SNOMEDCT_US:248311001|UMLS:C0311277		Abdominal obesity|Central obesity	http://purl.obolibrary.org/obo/HP_0012743	Excessive fat around the stomach and abdomen.
HP:0012744	Femoral aplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:47276000|UMLS:C0265629		Absent thighbone|Absent femur|Aplasia of the femur	http://purl.obolibrary.org/obo/HP_0012744	Failure of the femur to develop.
HP:0012745	Short palpebral fissure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:246802000|UMLS:C0423112	hposlim_core	Short opening between the eyelids|Decreased height of palpebral fissure|Short palpebral fissures	http://purl.obolibrary.org/obo/HP_0012745	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	biolink:PhenotypicFeature	hp	UMLS:C3554113		Thin toenail|Thin toenails	http://purl.obolibrary.org/obo/HP_0012746	Toenail that appears thin when viewed on end.
HP:0012747	Abnormal brainstem MRI signal intensity	biolink:PhenotypicFeature	hp	UMLS:C4022749			http://purl.obolibrary.org/obo/HP_0012747	A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.
HP:0012748	Focal T2 hyperintense brainstem lesion	biolink:PhenotypicFeature	hp	UMLS:C4022748			http://purl.obolibrary.org/obo/HP_0012748	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	biolink:PhenotypicFeature	hp	UMLS:C4022747			http://purl.obolibrary.org/obo/HP_0012749	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	biolink:PhenotypicFeature	hp	UMLS:C4022746			http://purl.obolibrary.org/obo/HP_0012750	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	biolink:PhenotypicFeature	hp	UMLS:C4022745			http://purl.obolibrary.org/obo/HP_0012751	A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.
HP:0012752	Focal T2 hypointense basal ganglia lesion	biolink:PhenotypicFeature	hp	UMLS:C4022744			http://purl.obolibrary.org/obo/HP_0012752	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	biolink:PhenotypicFeature	hp	UMLS:C4022743			http://purl.obolibrary.org/obo/HP_0012753	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	biolink:PhenotypicFeature	hp	UMLS:C4022742			http://purl.obolibrary.org/obo/HP_0012754	Increased amount of myelin in the central nervous system.
HP:0012755	Enlarged brainstem	biolink:PhenotypicFeature	hp	UMLS:C4022741			http://purl.obolibrary.org/obo/HP_0012755	Abnormal increase in size of the brainstem.
HP:0012756	CSF polymorphonuclear pleocytosis	biolink:PhenotypicFeature	hp	UMLS:C4022740			http://purl.obolibrary.org/obo/HP_0012756	An increased polymorphonuclear cell count in the cerebrospinal fluid.
HP:0012757	Abnormal neuron morphology	biolink:PhenotypicFeature	hp	UMLS:C4022739		Abnormal neuron shape|Abnormal neuronal morphology	http://purl.obolibrary.org/obo/HP_0012757	A structural anomaly of a neuron.
HP:0012758	Neurodevelopmental delay	biolink:PhenotypicFeature	hp	UMLS:C4022738			http://purl.obolibrary.org/obo/HP_0012758	
HP:0012759	Neurodevelopmental abnormality	biolink:PhenotypicFeature	hp	UMLS:C4022737			http://purl.obolibrary.org/obo/HP_0012759	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	Impaired social reciprocity	biolink:PhenotypicFeature	hp	UMLS:C4022736			http://purl.obolibrary.org/obo/HP_0012760	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	biolink:PhenotypicFeature	hp	UMLS:C4021070		Absent mastoids|Failure of development of mastoid|Mastoid agenesis	http://purl.obolibrary.org/obo/HP_0012761	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	biolink:PhenotypicFeature	hp	UMLS:C4022735			http://purl.obolibrary.org/obo/HP_0012762	The presence of atrophy (wasting) of the cerebral white matter.
HP:0012763	Paroxysmal dyspnea	biolink:PhenotypicFeature	hp	MSH:D004418|SNOMEDCT_US:59265000|UMLS:C0013405		Paroxysmal dyspnoea	http://purl.obolibrary.org/obo/HP_0012763	A sudden attack of dyspnea that occurs while the affected person is at rest.
HP:0012764	Orthopnea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62744007|UMLS:C0085619			http://purl.obolibrary.org/obo/HP_0012764	A sensation of breathlessness in the recumbent position, relieved by sitting or standing.
HP:0012765	Widened cerebellar subarachnoid space	biolink:PhenotypicFeature	hp	UMLS:C4022734			http://purl.obolibrary.org/obo/HP_0012765	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	biolink:PhenotypicFeature	hp	UMLS:C4022733			http://purl.obolibrary.org/obo/HP_0012766	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	biolink:PhenotypicFeature	hp	UMLS:C4022732			http://purl.obolibrary.org/obo/HP_0012767	A deviation from normal size of the placenta.
HP:0012768	Neonatal asphyxia	biolink:PhenotypicFeature	hp	MSH:D001238|SNOMEDCT_US:28314004|SNOMEDCT_US:413654009|UMLS:C0004045		Asphyxia neonatorum	http://purl.obolibrary.org/obo/HP_0012768	Respiratory failure in the newborn.
HP:0012769	Abnormal arm span	biolink:PhenotypicFeature	hp	UMLS:C4022731		Abnormal arm span	http://purl.obolibrary.org/obo/HP_0012769	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	biolink:PhenotypicFeature	hp	UMLS:C4022730		Reduced arm span	http://purl.obolibrary.org/obo/HP_0012770	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	biolink:PhenotypicFeature	hp	UMLS:C4022729		Increased arm span	http://purl.obolibrary.org/obo/HP_0012771	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	biolink:PhenotypicFeature	hp	UMLS:C4022728			http://purl.obolibrary.org/obo/HP_0012772	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	biolink:PhenotypicFeature	hp	UMLS:C1836996			http://purl.obolibrary.org/obo/HP_0012773	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	biolink:PhenotypicFeature	hp	UMLS:C1844571			http://purl.obolibrary.org/obo/HP_0012774	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	biolink:PhenotypicFeature	hp	UMLS:C4022727			http://purl.obolibrary.org/obo/HP_0012775	A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.
HP:0012776	Abnormal ciliary body morphology	biolink:PhenotypicFeature	hp	UMLS:C4022726		Abnormality of the ciliary body	http://purl.obolibrary.org/obo/HP_0012776	A structural anomaly of the ciliary body.
HP:0012777	Retinal neoplasm	biolink:PhenotypicFeature	hp	MSH:D019572|NCIT:C3262|SNOMEDCT_US:127002001|UMLS:C0524801			http://purl.obolibrary.org/obo/HP_0012777	A tumor (abnormal growth of tissue) of the retina.
HP:0012778	Retinal astrocytic hamartoma	biolink:PhenotypicFeature	hp	UMLS:C4022725			http://purl.obolibrary.org/obo/HP_0012778	A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.
HP:0012779	Transient hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4022724			http://purl.obolibrary.org/obo/HP_0012779	Hearing loss that occurs acutely and resolves completely.
HP:0012780	Neoplasm of the ear	biolink:PhenotypicFeature	hp	MSH:D004428|NCIT:C3262|SNOMEDCT_US:363228008|UMLS:C0013449		Ear tumor	http://purl.obolibrary.org/obo/HP_0012780	A tumor (abnormal growth of tissue) of the ear.
HP:0012781	Mid-frequency hearing loss	biolink:PhenotypicFeature	hp	UMLS:C4022723			http://purl.obolibrary.org/obo/HP_0012781	A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).
HP:0012782	Perilobar nephrogenic rest	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405935000|UMLS:C1319017		Perilobar nephrogenic rests	http://purl.obolibrary.org/obo/HP_0012782	A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.
HP:0012783	Intralobar nephrogenic rest	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405934001|UMLS:C1319016		Intralobar nephrogenic rests	http://purl.obolibrary.org/obo/HP_0012783	A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.
HP:0012784	Perinephritis	biolink:PhenotypicFeature	hp	MSH:D010501|SNOMEDCT_US:111404004|UMLS:C0031065			http://purl.obolibrary.org/obo/HP_0012784	Inflammation of the connective and adipose tissues surrounding the kidney.
HP:0012785	Flexion contracture of finger	biolink:PhenotypicFeature	hp	UMLS:C1857304		Flexion deformity of finger	http://purl.obolibrary.org/obo/HP_0012785	Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
HP:0012786	Recurrent cystitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197853008|UMLS:C0581366		Recurrent bladder infections	http://purl.obolibrary.org/obo/HP_0012786	Repeated infections of the urinary bladder.
HP:0012787	Recurrent pyelonephritis	biolink:PhenotypicFeature	hp	UMLS:C0748199			http://purl.obolibrary.org/obo/HP_0012787	Repeated episodes of pyelonephritis.
HP:0012788	Reticulate pigmentation of oral mucosa	biolink:PhenotypicFeature	hp	UMLS:C1852148		Mottled pigmentation of oral mucosa|Reticulate pigmentation of oral mucous membrane	http://purl.obolibrary.org/obo/HP_0012788	A net-like pattern of increased pigmentation of the oral cavity.
HP:0012789	Hypoplasia of the calcaneus	biolink:PhenotypicFeature	hp	UMLS:C3550873		Small heel bone|Underdeveloped heel bone|Hypoplastic calcaneus	http://purl.obolibrary.org/obo/HP_0012789	Underdevelopment of the heel bone.
HP:0012790	Abnormal intramembranous ossification	biolink:PhenotypicFeature	hp	UMLS:C4021069		Abnormal intramembranous bone ossification	http://purl.obolibrary.org/obo/HP_0012790	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	biolink:PhenotypicFeature	hp	UMLS:C4022722		Abnormal maturation of long bone in upper arm	http://purl.obolibrary.org/obo/HP_0012791	An anomaly of the process of formation of bone in the humerus.
HP:0012792	Absent ossification of thoracic vertebral bodies	biolink:PhenotypicFeature	hp	UMLS:C4022721			http://purl.obolibrary.org/obo/HP_0012792	A lack of bone mineralization of one or more body of thoracic vertebra.
HP:0012793	Kinked brainstem	biolink:PhenotypicFeature	hp	UMLS:C4021068		Kinked brain stem	http://purl.obolibrary.org/obo/HP_0012793	A kinked appearance of the brainstem, i.e., an exaggerated flexure.
HP:0012794	Periventricular white matter hypodensities	biolink:PhenotypicFeature	hp	UMLS:C4022720		Periventricular cerebral white matter hypodensities	http://purl.obolibrary.org/obo/HP_0012794	Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
HP:0012795	Abnormality of the optic disc	biolink:PhenotypicFeature	hp	UMLS:C3808249			http://purl.obolibrary.org/obo/HP_0012795	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	biolink:PhenotypicFeature	hp	UMLS:C3805911		Elevated cup to disc ratio|Increased cup disc ratio	http://purl.obolibrary.org/obo/HP_0012796	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	biolink:PhenotypicFeature	hp	MSH:D018190|NCIT:C3262|SNOMEDCT_US:115236002|UMLS:C0206619		Lymphatic vessel tumor	http://purl.obolibrary.org/obo/HP_0012797	A benign or malignant neoplasm arising from the lymphatic vessels.
HP:0012798	Pulmonary lymphangiomyomatosis	biolink:PhenotypicFeature	hp	MSH:D018192|SNOMEDCT_US:73017001|UMLS:C0238399|UMLS:C0751674		Pulmonary myomatosis|Lymphangioleiomyomatosis	http://purl.obolibrary.org/obo/HP_0012798	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	biolink:PhenotypicFeature	hp	UMLS:C0239516|UMLS:C4022719		Paralysis of one side of the face|Weakness of one side of the face|Unilateral facial muscle paralysis|Unilateral facial muscle weakness|Unilateral facial paralysis|Unilateral facial weakness	http://purl.obolibrary.org/obo/HP_0012799	One-sided weakness of the muscles of facial expression and eye closure.
HP:0012800	Accessory cranial suture	biolink:PhenotypicFeature	hp	UMLS:C4021067|UMLS:C4022927		Extra cranial suture|Supernumary cranial suture|Accessory fontanelle|Extra fontanelle|Supernumary fontanelle	http://purl.obolibrary.org/obo/HP_0012800	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	biolink:PhenotypicFeature	hp	UMLS:C4021066|UMLS:C4280310		Narrow jaw|Narrow lower face|Narrow lower jaw|Thin lower face|Thin lower jaw|Narrow mandible	http://purl.obolibrary.org/obo/HP_0012801	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	biolink:PhenotypicFeature	hp	UMLS:C3281059		Broad jaw|Broad lower face|Wide jaw|Broad mandible|Wide mandible	http://purl.obolibrary.org/obo/HP_0012802	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	biolink:PhenotypicFeature	hp	MSH:D015858|SNOMEDCT_US:3289004|UMLS:C0003081			http://purl.obolibrary.org/obo/HP_0012803	Inequality of refractive power of the two eyes.
HP:0012804	Corneal ulceration	biolink:PhenotypicFeature	hp	MSH:D003320|SNOMEDCT_US:91514001|UMLS:C0010043		Corneal ulcer|Corneal ulcerations	http://purl.obolibrary.org/obo/HP_0012804	Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
HP:0012805	Iris transillumination defect	biolink:PhenotypicFeature	hp	UMLS:C1096099			http://purl.obolibrary.org/obo/HP_0012805	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	biolink:PhenotypicFeature	hp	UMLS:C0687082			http://purl.obolibrary.org/obo/HP_0012806	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	biolink:PhenotypicFeature	hp	UMLS:C4020909	hposlim_core	Ala lower than columella|Columella, high insertion	http://purl.obolibrary.org/obo/HP_0012807	Insertion of the posterior columella superior to the nasal base.
HP:0012808	Abnormal nasal base	biolink:PhenotypicFeature	hp	UMLS:C4022718		Abnormal nasal base|Abnormality of base of nose|Deformity of base of nose|Deformity of nasal base|Malformation of base of nose|Malformation of nasal base|Anomaly of base of nose|Anomaly of nasal base	http://purl.obolibrary.org/obo/HP_0012808	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	biolink:PhenotypicFeature	hp	UMLS:C4022717		Decreased width of base of nose|Decreased width of nasal base|Narrow base of nose|Narrow nasal base|Thin base of nose|Thin nasal base	http://purl.obolibrary.org/obo/HP_0012809	Decreased distance between the attachments of the alae nasi to the face.
HP:0012810	Wide nasal base	biolink:PhenotypicFeature	hp	UMLS:C1849667		Broad base of nose|Broad nasal base|Increased width of base of nose|Increased width of nasal base|Wide base of nose|Wide nasal base	http://purl.obolibrary.org/obo/HP_0012810	Increased distance between the attachments of the alae nasi to the face.
HP:0012811	Wide nasal ridge	biolink:PhenotypicFeature	hp	UMLS:C4020718		Increased width of nasal ridge|Wide nasal ridge|Broad nasal ridge|Broad dorsum of nose|Broad nasal dorsum|Increased width of dorsum of nose|Increased width of nasal dorsum|Nasal ridge, wide|Wide dorsum of nose|Wide nasal dorsum	http://purl.obolibrary.org/obo/HP_0012811	Increased width of the nasal ridge.
HP:0012812	Fullness of paranasal tissue	biolink:PhenotypicFeature	hp	UMLS:C4021065|UMLS:C4280308|UMLS:C4280309		Fullness of tissue around the nose|Thick tissue around the nose|Laterally built up nose|Paranasal fullness|Thick paranasal tissue|Hyperplasia of paranasal tissue|Hypertrophy of paranasal tissue	http://purl.obolibrary.org/obo/HP_0012812	Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.
HP:0012813	Unilateral breast hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C1844722		One underdeveloped breast	http://purl.obolibrary.org/obo/HP_0012813	Underdevelopment of the breast on one side only.
HP:0012814	Bilateral breast hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4022716		Two underdeveloped breasts	http://purl.obolibrary.org/obo/HP_0012814	Underdevelopment of the breast on both sides.
HP:0012815	Hypoplastic female external genitalia	biolink:PhenotypicFeature	hp	UMLS:C4022715		Underdeveloped female external genitalia	http://purl.obolibrary.org/obo/HP_0012815	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	biolink:PhenotypicFeature	hp	UMLS:C4022714			http://purl.obolibrary.org/obo/HP_0012816	A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.
HP:0012817	Noncompaction cardiomyopathy	biolink:PhenotypicFeature	hp	UMLS:C1839832		Noncompaction of the ventricular myocardium|Spongiform cardiomyopathy	http://purl.obolibrary.org/obo/HP_0012817	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	biolink:PhenotypicFeature	hp	UMLS:C4022713			http://purl.obolibrary.org/obo/HP_0012818	Noncompaction cardiomyopathy that affects both ventricles.
HP:0012819	Myocarditis	biolink:PhenotypicFeature	hp	MSH:D009205|SNOMEDCT_US:50920009|UMLS:C0027059		Inflammation of heart muscle	http://purl.obolibrary.org/obo/HP_0012819	Inflammation of the myocardium.
HP:0012820	Bilateral vocal cord paralysis	biolink:PhenotypicFeature	hp	UMLS:C2146481			http://purl.obolibrary.org/obo/HP_0012820	A loss of the ability to move the vocal fold on both sides.
HP:0012821	Unilateral vocal cord paresis	biolink:PhenotypicFeature	hp	MSH:D014826|UMLS:C0751577			http://purl.obolibrary.org/obo/HP_0012821	Decreased strength of the vocal fold on one side.
HP:0012822	Bilateral vocal cord paresis	biolink:PhenotypicFeature	hp	MSH:D014826|UMLS:C0751574			http://purl.obolibrary.org/obo/HP_0012822	Decreased strength of the vocal fold on both sides.
HP:0012823	Clinical modifier	biolink:PhenotypicFeature	hp	UMLS:C4021064		Phenotypic modifier	http://purl.obolibrary.org/obo/HP_0012823	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:103370009|UMLS:C0522510		Intensity	http://purl.obolibrary.org/obo/HP_0012824	The intensity or degree of a manifestation.
HP:0012825	Mild	biolink:PhenotypicFeature	hp	SNOMEDCT_US:446411000124101|UMLS:C1513302		Mild	http://purl.obolibrary.org/obo/HP_0012825	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007|UMLS:C0205081			http://purl.obolibrary.org/obo/HP_0012826	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	biolink:PhenotypicFeature	hp	UMLS:C0205189		Borderline	http://purl.obolibrary.org/obo/HP_0012827	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24484000|UMLS:C0205082		Severe	http://purl.obolibrary.org/obo/HP_0012828	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:795002|UMLS:C0439808		Profound	http://purl.obolibrary.org/obo/HP_0012829	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	biolink:PhenotypicFeature	hp	UMLS:C4019252			http://purl.obolibrary.org/obo/HP_0012830	The anatomical localization of the specified phenotypic abnormality.
HP:0012831	Laterality	biolink:PhenotypicFeature	hp	SNOMEDCT_US:272741003|UMLS:C0332304			http://purl.obolibrary.org/obo/HP_0012831	The localization with respect to the side of the body of the specified phenotypic abnormality.
HP:0012832	Bilateral	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51440002|UMLS:C0238767			http://purl.obolibrary.org/obo/HP_0012832	Being present on both sides of the body.
HP:0012833	Unilateral	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66459002|UMLS:C0205092			http://purl.obolibrary.org/obo/HP_0012833	Being present on only the left or only the right side of the body.
HP:0012834	Right	biolink:PhenotypicFeature	hp	SNOMEDCT_US:264180000|UMLS:C0444532		Right-sided	http://purl.obolibrary.org/obo/HP_0012834	Being located on the right side of the body.
HP:0012835	Left	biolink:PhenotypicFeature	hp	SNOMEDCT_US:263795004|UMLS:C0443246		Left-sided	http://purl.obolibrary.org/obo/HP_0012835	Being located on the left side of the body.
HP:0012836	Spatial pattern	biolink:PhenotypicFeature	hp	UMLS:C4022711			http://purl.obolibrary.org/obo/HP_0012836	The pattern by which a phenotype affects one or more regions of the body.
HP:0012837	Generalized	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60132005|UMLS:C0205246		Generalised	http://purl.obolibrary.org/obo/HP_0012837	Affecting all regions without specificity of distribution.
HP:0012838	Localized	biolink:PhenotypicFeature	hp	SNOMEDCT_US:255471002|UMLS:C0392752		Localized|Localised	http://purl.obolibrary.org/obo/HP_0012838	Being confined or restricted to a particular location.
HP:0012839	Distal	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46053002|UMLS:C0205108		Outermost	http://purl.obolibrary.org/obo/HP_0012839	Localized away from the central point of the body.
HP:0012840	Proximal	biolink:PhenotypicFeature	hp	SNOMEDCT_US:40415009|UMLS:C0205107			http://purl.obolibrary.org/obo/HP_0012840	Localized close to the central point of the body.
HP:0012841	Retinal vascular tortuosity	biolink:PhenotypicFeature	hp	UMLS:C1860475		Tortuous retinal vessels	http://purl.obolibrary.org/obo/HP_0012841	The presence of an increased number of twists and turns of the retinal blood vessels.
HP:0012842	Skin appendage neoplasm	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:126489007|SNOMEDCT_US:55681005|UMLS:C0345988		Skin adnexal neoplasm|Skin adnexal tumor	http://purl.obolibrary.org/obo/HP_0012842	A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.
HP:0012843	Hair follicle neoplasm	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:44155009|UMLS:C0859920			http://purl.obolibrary.org/obo/HP_0012843	An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.
HP:0012844	Trichilemmoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274900003|SNOMEDCT_US:46199002|UMLS:C0334263		Tricholemmoma	http://purl.obolibrary.org/obo/HP_0012844	A benign tumour originating from the outer root sheath of the hair follicle.
HP:0012845	Single trichilemmoma	biolink:PhenotypicFeature	hp	UMLS:C4022710			http://purl.obolibrary.org/obo/HP_0012845	Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.
HP:0012846	Multiple trichilemmomata	biolink:PhenotypicFeature	hp	UMLS:C4021063		Multiple trichilemmomas	http://purl.obolibrary.org/obo/HP_0012846	Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.
HP:0012847	Epilepsia partialis continua	biolink:PhenotypicFeature	hp	MSH:D017036|SNOMEDCT_US:241006|UMLS:C0085543		Epilepsia partialis continua of Kojevnikov|Kojevnikov's epilepsia|Kozhevnikov's epilepsia	http://purl.obolibrary.org/obo/HP_0012847	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	biolink:PhenotypicFeature	hp	UMLS:C0151924		Narrowing of small intestine	http://purl.obolibrary.org/obo/HP_0012848	The narrowing or partial blockage of a portion of the small intestine.
HP:0012849	Small intestinal bleeding	biolink:PhenotypicFeature	hp	SNOMEDCT_US:70375006|UMLS:C0520561		Small intestinal bleeding|Small intestinal hemorrhage	http://purl.obolibrary.org/obo/HP_0012849	Bleeding from the small intestine.
HP:0012850	Small intestinal dysmotility	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253768006|UMLS:C0345200			http://purl.obolibrary.org/obo/HP_0012850	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19132000|SNOMEDCT_US:8543007|UMLS:C0267466		Narrowing of the colon|Stenosis of the colon	http://purl.obolibrary.org/obo/HP_0012851	A narrowing of a segment of colon whereby bowel continuity is maintained.
HP:0012852	Hepatic bridging fibrosis	biolink:PhenotypicFeature	hp	UMLS:C4022709			http://purl.obolibrary.org/obo/HP_0012852	Hepatic fibrosis that reaches from a portal area to another portal area.
HP:0012853	Scrotal hypospadias	biolink:PhenotypicFeature	hp	SNOMEDCT_US:702462000|UMLS:C2197691			http://purl.obolibrary.org/obo/HP_0012853	Hypospadias with location of the urethral meatus in the scrotum.
HP:0012854	Midshaft hypospadias	biolink:PhenotypicFeature	hp	UMLS:C4022708			http://purl.obolibrary.org/obo/HP_0012854	Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.
HP:0012855	Scrotal hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4021062		Hyperpigmentation of the scrotum|Hyperpigmented scrotum|Increased pigmentation in scrotum	http://purl.obolibrary.org/obo/HP_0012855	Increased pigmentation (skin color) of the scrotum.
HP:0012856	Abnormal scrotal rugation	biolink:PhenotypicFeature	hp	UMLS:C4022707			http://purl.obolibrary.org/obo/HP_0012856	Anomaly of the folded ridges (wrinkles) of skin of the scrotum.
HP:0012857	Increased scrotal rugation	biolink:PhenotypicFeature	hp	UMLS:C4022706			http://purl.obolibrary.org/obo/HP_0012857	Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.
HP:0012858	Decreased scrotal rugation	biolink:PhenotypicFeature	hp	UMLS:C4022705			http://purl.obolibrary.org/obo/HP_0012858	Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.
HP:0012859	Esophageal leukoplakia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89057003|UMLS:C0267095		Esophageal epidermoid metaplasia	http://purl.obolibrary.org/obo/HP_0012859	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	biolink:PhenotypicFeature	hp	UMLS:C4021061		Fibrotic testes|Fibrotic testicle	http://purl.obolibrary.org/obo/HP_0012860	Formation of excess connective tissue in the testicle.
HP:0012861	Ovotestis	biolink:PhenotypicFeature	hp	MSH:D050090|SNOMEDCT_US:18978002|UMLS:C0266361			http://purl.obolibrary.org/obo/HP_0012861	A gonad that contains both ovarian follicles and testicular tubular elements.
HP:0012862	Abnormal germ cell morphology	biolink:PhenotypicFeature	hp	UMLS:C4022704		Abnormally shaped reproductive cell|Abnormal shape of a reproductive cell|Abnormally shaped germ cell	http://purl.obolibrary.org/obo/HP_0012862	Any structural anomaly of a reproductive cell.
HP:0012863	Abnormal male germ cell morphology	biolink:PhenotypicFeature	hp	UMLS:C4022703			http://purl.obolibrary.org/obo/HP_0012863	A structural anomaly of a male reproductive cell.
HP:0012864	Abnormal sperm morphology	biolink:PhenotypicFeature	hp	MSH:D000072660|SNOMEDCT_US:236817003|UMLS:C0403824		Abnormal shape of sperm|Teratospermia|Teratozoospermia	http://purl.obolibrary.org/obo/HP_0012864	A structural anomaly of sperm.
HP:0012865	Abnormal sperm head morphology	biolink:PhenotypicFeature	hp	UMLS:C4022702		Sperm head anomaly	http://purl.obolibrary.org/obo/HP_0012865	A structural abnormality of the sperm head.
HP:0012866	Abnormal sperm neck morphology	biolink:PhenotypicFeature	hp	UMLS:C4022701		Sperm neck anomaly	http://purl.obolibrary.org/obo/HP_0012866	A structural abnormality of the sperm neck.
HP:0012867	Abnormal sperm mid-piece morphology	biolink:PhenotypicFeature	hp	UMLS:C4022700		Sperm mid-piece anomaly	http://purl.obolibrary.org/obo/HP_0012867	A structural abnormality of the sperm mid-piece.
HP:0012868	Abnormal sperm tail morphology	biolink:PhenotypicFeature	hp	UMLS:C4022699		Sperm tail anomaly	http://purl.obolibrary.org/obo/HP_0012868	A structural abnormality of the sperm tail.
HP:0012869	Acephalic spermatozoa	biolink:PhenotypicFeature	hp	UMLS:C4022698			http://purl.obolibrary.org/obo/HP_0012869	Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.
HP:0012870	Vanishing testis	biolink:PhenotypicFeature	hp	MSH:C537770|SNOMEDCT_US:53599007|UMLS:C0266427		Vanishing testis|Testicular regression syndrome	http://purl.obolibrary.org/obo/HP_0012870	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	biolink:PhenotypicFeature	hp	MSH:D014646|SNOMEDCT_US:46871008|SNOMEDCT_US:51070004|UMLS:C0042341		Vaginal varicocele	http://purl.obolibrary.org/obo/HP_0012871	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	biolink:PhenotypicFeature	hp	UMLS:C4022697			http://purl.obolibrary.org/obo/HP_0012872	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:300506000|SNOMEDCT_US:5286009|SNOMEDCT_US:702610009|UMLS:C0266444		Absent deferent duct|Absent ductus deferens|Congenital absence of the vas deferens	http://purl.obolibrary.org/obo/HP_0012873	Aplasia (congenital absence) of the vas deferens.
HP:0012874	Abnormal male reproductive system physiology	biolink:PhenotypicFeature	hp	UMLS:C4020716		Abnormal male genital system physiology	http://purl.obolibrary.org/obo/HP_0012874	An abnormal functionality of the male genital system.
HP:0012875	Abnormal ejaculation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:386674000|UMLS:C2937350			http://purl.obolibrary.org/obo/HP_0012875	Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.
HP:0012876	Premature ejaculation	biolink:PhenotypicFeature	hp	MSH:D061686|SNOMEDCT_US:44001008|UMLS:C0033038		Premature ejaculation	http://purl.obolibrary.org/obo/HP_0012876	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:50112006|UMLS:C0403673			http://purl.obolibrary.org/obo/HP_0012877	The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.
HP:0012878	Retarded ejaculation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15405008|UMLS:C0234047		Delayed ejaculation	http://purl.obolibrary.org/obo/HP_0012878	Difficulty of a male in achieving orgasm.
HP:0012879	Anejaculation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:248782001|SNOMEDCT_US:42288005|UMLS:C0278106		Ejaculatory incompetence	http://purl.obolibrary.org/obo/HP_0012879	Inability to ejaculate.
HP:0012880	Abnormal labia minora morphology	biolink:PhenotypicFeature	hp	UMLS:C4022696		Abnormality of the inner vaginal lips|Abnormality of the labia minora	http://purl.obolibrary.org/obo/HP_0012880	An anomaly of the labia minora, the folds of skin between the outer labia.
HP:0012881	Abnormal labia majora morphology	biolink:PhenotypicFeature	hp	UMLS:C4022695		Abnormality of vaginal lips|Abnormality of the labia majora	http://purl.obolibrary.org/obo/HP_0012881	An anomaly of the outer labia.
HP:0012882	Hyperplastic labia majora	biolink:PhenotypicFeature	hp	UMLS:C4021060		Enlarged labia majora|Hyperplasia of labia majora	http://purl.obolibrary.org/obo/HP_0012882	Overgrowth of the outer labia.
HP:0012883	Fallopian tube cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59401005|UMLS:C0269173			http://purl.obolibrary.org/obo/HP_0012883	A fluid filled sac located in the Fallopian tube.
HP:0012884	Fallopian tube torsion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46946009|UMLS:C0269169		Twisted fallopian tube	http://purl.obolibrary.org/obo/HP_0012884	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48672005|UMLS:C0266375		Accessory fallopian tube	http://purl.obolibrary.org/obo/HP_0012885	The presence of a supernumerary Fallopian tube.
HP:0012886	Hemorrhagic ovarian cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:119420007|UMLS:C0473311			http://purl.obolibrary.org/obo/HP_0012886	An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.
HP:0012887	Ovarian serous cystadenoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:119421006|UMLS:C0346170|UMLS:C4020715		Serous ovarian cyst	http://purl.obolibrary.org/obo/HP_0012887	A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.
HP:0012888	Abnormality of the uterine cervix	biolink:PhenotypicFeature	hp	UMLS:C4022694			http://purl.obolibrary.org/obo/HP_0012888	An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.
HP:0012889	Cervical endometriosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:61640006|UMLS:C0269107			http://purl.obolibrary.org/obo/HP_0012889	Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.
HP:0012890	Posteriorly placed anus	biolink:PhenotypicFeature	hp	UMLS:C4022693			http://purl.obolibrary.org/obo/HP_0012890	Posterior malposition of the anus.
HP:0012891	High posterior hairline	biolink:PhenotypicFeature	hp	UMLS:C4022692		High hairline at back of head	http://purl.obolibrary.org/obo/HP_0012891	Hair on the neck extends less inferiorly than usual.
HP:0012892	Facial muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4022691|UMLS:C4280307		Increased size of facial muscles|Large facial muscles|Hyperplasia of facial muscles	http://purl.obolibrary.org/obo/HP_0012892	Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0012893	Neck muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4022690|UMLS:C4280306		Increased size of neck muscles|Large neck muscles|Overgrowth of neck muscles|Hypertrophy of cervical muscles|Hyperplasia of neck muscles	http://purl.obolibrary.org/obo/HP_0012893	Muscle hypertrophy affecting the muscles of the neck.
HP:0012894	Paraspinal muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4022689			http://purl.obolibrary.org/obo/HP_0012894	Muscle hypertrophy affecting the paraspinal muscles.
HP:0012895	Scapular muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4022688			http://purl.obolibrary.org/obo/HP_0012895	Muscle hypertrophy affecting the scapular muscles.
HP:0012896	Abnormal motor evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4022687			http://purl.obolibrary.org/obo/HP_0012896	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	biolink:PhenotypicFeature	hp	UMLS:C4021059		Abnormal motor evoked potentials in the upper limb	http://purl.obolibrary.org/obo/HP_0012897	An anomaly identified by motor evoked potentials (MEPs) in the arm.
HP:0012898	Abnormal lower-limb motor evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4021058		Abnormal motor evoked potentials in the lower limb	http://purl.obolibrary.org/obo/HP_0012898	An anomaly identified by motor evoked potentials (MEPs) in the leg.
HP:0012899	Handgrip myotonia	biolink:PhenotypicFeature	hp	UMLS:C1868623		Grip myotonia	http://purl.obolibrary.org/obo/HP_0012899	Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
HP:0012900	Myotonia of the face	biolink:PhenotypicFeature	hp	UMLS:C4022686			http://purl.obolibrary.org/obo/HP_0012900	Slowed relaxation of muscles in the face.
HP:0012901	Myotonia of the jaw	biolink:PhenotypicFeature	hp	UMLS:C4022685			http://purl.obolibrary.org/obo/HP_0012901	Slowed relaxation of muscles in the jaw.
HP:0012902	Myotonia of the lower limb	biolink:PhenotypicFeature	hp	UMLS:C4022684			http://purl.obolibrary.org/obo/HP_0012902	Slowed relaxation of muscles in the leg.
HP:0012903	Myotonia of the upper limb	biolink:PhenotypicFeature	hp	UMLS:C4022683			http://purl.obolibrary.org/obo/HP_0012903	Slowed relaxation of muscles in the arm.
HP:0012904	Cold-sensitive myotonia	biolink:PhenotypicFeature	hp	UMLS:C4022682			http://purl.obolibrary.org/obo/HP_0012904	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:400954002|UMLS:C1303001|UMLS:C4280305		Kabuki syndrome eyelids	http://purl.obolibrary.org/obo/HP_0012905	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	biolink:PhenotypicFeature	hp	UMLS:C4072884			http://purl.obolibrary.org/obo/HP_0020006	A coloboma of the ciliary body.
HP:0020034	Diffuse	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19648000|UMLS:C0205219			http://purl.obolibrary.org/obo/HP_0020034	A spatial pattern that is spread out, i.e., not localized.
HP:0020035	Lower limb dysmetria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020035	A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.
HP:0020036	Upper limb dysmetria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020036	A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.
HP:0020037	Astasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020037	A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.
HP:0020038	Vertebrobasilar dolichoectasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020038	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020041	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020042	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020043	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020044	
HP:0020045	Esodeviation	biolink:PhenotypicFeature	hp			Convergent strabismus	http://purl.obolibrary.org/obo/HP_0020045	A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
HP:0020046	Accommodative esotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020046	A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.
HP:0020047	Abnormal myeloid cell morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020047	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020048	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	biolink:PhenotypicFeature	hp			Divergent strabismus	http://purl.obolibrary.org/obo/HP_0020049	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	biolink:PhenotypicFeature	hp			Anti-GM-CSF antibody positivity	http://purl.obolibrary.org/obo/HP_0020050	The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.
HP:0020054	Abnormal erythrocyte physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020054	Any functional abnormality of erythrocytes (red-blood cells).
HP:0020058	Abnormal red blood cell count	biolink:PhenotypicFeature	hp			Abnormal RBC count	http://purl.obolibrary.org/obo/HP_0020058	Any deviation from the normal number of red blood cells per volume in the circulation.
HP:0020059	Increased red blood cell count	biolink:PhenotypicFeature	hp			Increased RBC count	http://purl.obolibrary.org/obo/HP_0020059	An abnormal elevation above the normal number of red blood cells per volume in the circulation.
HP:0020060	Decreased red blood cell count	biolink:PhenotypicFeature	hp			Decreased RBC count	http://purl.obolibrary.org/obo/HP_0020060	An abnormal reduction below the normal number of red blood cells per volume in the circulation.
HP:0020061	Abnormal hemoglobin concentration	biolink:PhenotypicFeature	hp			Abnormal Hb concentration|Abnormal haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020061	Any deviation from the normal concentration of hemoglobin in the blood.
HP:0020062	Decreased hemoglobin concentration	biolink:PhenotypicFeature	hp			Decreased Hb concentration|Decreased haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020062	An abnormal reduction below normal hemoglobin concentration in the circulation.
HP:0020063	Increased hemoglobin concentration	biolink:PhenotypicFeature	hp			Increased Hb concentration|Increased haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0020063	An abnormal elevation above normal hemoglobin concentration in the circulation.
HP:0020064	Abnormal eosinophil count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020064	Any deviation from the normal number of eosinophils per volume in the blood circulation.
HP:0020071	Viremia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020071	The presence of virus in the blood.
HP:0020072	Persistent EBV viremia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020072	Persistent presence of Epstein-Barr virus in the blood.
HP:0020073	Hypopigmented macule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020073	A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.
HP:0020074	Crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020074	The presence of crystals in the urine.
HP:0020075	Leucine crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020075	The presence of leuucine crystals in the urine.
HP:0020076	Wrist ganglion	biolink:PhenotypicFeature	hp			Ganglion cyst of the wrist	http://purl.obolibrary.org/obo/HP_0020076	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020077	An elevated level of carnitine in the urine.
HP:0020078	Alaninuria	biolink:PhenotypicFeature	hp			Increased urinary alanine	http://purl.obolibrary.org/obo/HP_0020078	An increased level of alanine in the urine.
HP:0020079	Beta-alaninuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020079	An increased level of beta-alanine in the urine.
HP:0020080	Erythrocyte inclusion bodies	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020080	Nuclear or cytoplasmic aggregates of substances in red blood cells.
HP:0020081	Pappenheimer bodies	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020081	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020082	A type of erythrocyte inclusion composed of denatured hemoglobin.
HP:0020083	Furuncle	biolink:PhenotypicFeature	hp			Boil	http://purl.obolibrary.org/obo/HP_0020083	An infection of a hair follicle that extends subcutaneously, forming an abscess.
HP:0020084	Carbuncle	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020084	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020085	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020086	Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
HP:0020087	BCGosis	biolink:PhenotypicFeature	hp			BCGiosis|Disseminated Bacillus Calmette-Guerin infection	http://purl.obolibrary.org/obo/HP_0020087	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	biolink:PhenotypicFeature	hp			Vaccine associated measles	http://purl.obolibrary.org/obo/HP_0020088	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020089	Infection with the rubella virus of the live-attenuated vaccine.
HP:0020090	Post-vaccination polio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020090	Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.
HP:0020091	Post-vaccination rotavirus infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020091	Infection with live attenuated rotavirus vaccine following vaccination.
HP:0020093	Recurrent deep organ abscess formation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020093	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020095	Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.
HP:0020096	Recurrent streptococcal infections	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020096	Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.
HP:0020097	Infection due to encapsulated bacteria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020097	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:0020098	Herpes encephalitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020098	Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.
HP:0020099	Severe norovirus infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020099	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020100	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020101	Fungal infection characterized by invasion of host tissues.
HP:0020102	Pneumocystis jirovecii pneumonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020102	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020103	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020104	An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.
HP:0020105	Severe toxoplasmosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020105	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020106	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020107	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020108	An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.
HP:0020110	Bone fracture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020110	A partial or complete breakage of the continuity of a bone.
HP:0020111	Abnormal CD4+CD25+ regulatory T cell proportion	biolink:PhenotypicFeature	hp			Abnormal CD4+CD25+ Treg cell proportion	http://purl.obolibrary.org/obo/HP_0020111	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	biolink:PhenotypicFeature	hp			Elevated proportion of CD4+CD25+ regulatory T cells|Increased proportion of CD4+CD25+ Treg cells	http://purl.obolibrary.org/obo/HP_0020112	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	biolink:PhenotypicFeature	hp			Decreased proportion of CD4+CD25+ Treg cells|Reduced proportion of CD4+CD25+ regulatory T cells	http://purl.obolibrary.org/obo/HP_0020113	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020114	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020117	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020118	Congenital absence of the radial artery.
HP:0020119	Abnormal retinal nerve fiber layer morphology	biolink:PhenotypicFeature	hp			Abnormal retinal nerve fibre layer morphology	http://purl.obolibrary.org/obo/HP_0020119	A structural abnormality of the retinal nerve fiber layer
HP:0020120	Retinal nerve fiber edema	biolink:PhenotypicFeature	hp			Retinal nerve fibre oedema	http://purl.obolibrary.org/obo/HP_0020120	Swelling (edema) of the retinal nerve fibers.
HP:0020121	Conception by assisted reproductive technology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020121	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	biolink:PhenotypicFeature	hp			Blister cells|Degmacytes	http://purl.obolibrary.org/obo/HP_0020122	Red blood cells that appear to have parts of them bitten away.
HP:0020123	Tympanosclerosis	biolink:PhenotypicFeature	hp			Tympanic calcification	http://purl.obolibrary.org/obo/HP_0020123	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	biolink:PhenotypicFeature	hp			Conjunctival avascular cysts (filtering blebs)|Spontaneous filtering bleb	http://purl.obolibrary.org/obo/HP_0020125	Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.
HP:0020126	Prostate mass	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020126	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020127	A lump detected in the region that surrounds a joiny. 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020128	Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.
HP:0020129	Abnormal urine protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020129	Any deviation of the concentration of one or more proteins in the urine.
HP:0020130	Increased urinary neutrophil gelatinase-associated lipocalin	biolink:PhenotypicFeature	hp			Increased urinary NGAL	http://purl.obolibrary.org/obo/HP_0020130	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020131	Abnormal structure of the basement membrane of the renal tubulus.
HP:0020132	Thickening of the tubular basement membrane	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020132	Increase in thickness of the basement membrane of the tubulus of the kidney.
HP:0020133	Podocyte hypertrophy	biolink:PhenotypicFeature	hp			Glomerular visceral epithelial cell hypertrophy|Hypertrophy of visceral epithelial cells	http://purl.obolibrary.org/obo/HP_0020133	Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.
HP:0020134	Increased urine neutrophil count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020134	Abnormally increased count of neutrophils in urine.
HP:0020135	Myofibromatosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020135	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020136	The presence of circulating IgG autoantibodies to cardiolipin.
HP:0020137	Anticardiolipin IgM antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020137	The presence of circulating IgM autoantibodies to cardiolipin.
HP:0020138	History of recent animal bite	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020138	Medical history of a recent bite injury due to an animal.
HP:0020139	History of recent insect bite	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020139	Medical history of a recent bite injury due to an insect.
HP:0020140	History of recent tick bite	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020140	Medical history of a recent bite injury due to a tick.
HP:0020141	Blood pressure substantially higher in legs than arms	biolink:PhenotypicFeature	hp			Blood pressure substantially higher in lower than upper extremities|Blood pressure substantially lower in arms than legs|Blood pressure substantially lower in upper than lower extremities	http://purl.obolibrary.org/obo/HP_0020141	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	biolink:PhenotypicFeature	hp			Blood pressure substantially higher in upper than lower extremities|Increased arm-leg blood pressure gradient	http://purl.obolibrary.org/obo/HP_0020142	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020143	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020144	The presence of calcium phosphate crystals in the urine.
HP:0020145	Calcium oxalate crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020145	The presence of calcium oxalate crystals in the urine.
HP:0020146	Calcium carbonate crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020146	The presence of calcium carbonate crystals in the urine.
HP:0020147	2-Methylbutyryl glycinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020147	Increased concentration of 2-methylbutyryl glycine in the urine.
HP:0020148	Increased circulating mead acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020148	An abnormally elevated concentration od mead acid in the blood circulation.
HP:0020149	Elevated circulating succinate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020149	An increase concentration of succinate in the blood circulation.
HP:0020150	Elevated urinary uromodulin	biolink:PhenotypicFeature	hp			Elevated urinary Tamm-Horsfall protein concentration	http://purl.obolibrary.org/obo/HP_0020150	An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine.
HP:0020151	Anti-dsDNA antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020151	The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.
HP:0020152	Distal joint laxity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020152	Lack of stability of a distal joint (e.g., finger).
HP:0020153	Positive blood 1,3 beta glucan test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020153	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020154	A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.
HP:0020155	Abnormal oocyte morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020155	An abnormal structure of the female germ cell (egg cell).
HP:0020156	Abnormal zona pellucida morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020156	Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida.
HP:0020157	Thin zona pellucida	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020157	Reduced thickness of the zona pellucida.
HP:0020158	Increased circulating adrenic acid concentration	biolink:PhenotypicFeature	hp			Increased circulating docosatetraenoate level	http://purl.obolibrary.org/obo/HP_0020158	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	biolink:PhenotypicFeature	hp			Reduce response to GnRH stimulation test	http://purl.obolibrary.org/obo/HP_0020159	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020160	Cellular accumulation of GM1 gangliosides.
HP:0020161	Branch retinal artery occlusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020161	Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.
HP:0020163	Cilioretinal artery occlusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020163	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020164	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020165	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020166	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020167	A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.
HP:0020169	Abnormal drug response	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020169	An anomlous 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	biolink:PhenotypicFeature	hp			Elevated blood drug concentration|Elevated plasma drug concentration|Elevated serum drug concentrations|Increased plasma drug concentration|Increased serum drug concentration	http://purl.obolibrary.org/obo/HP_0020170	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	biolink:PhenotypicFeature	hp			Decreased plasma drug concentration|Decreased serum drug concentration|Reduced blood drug concentration|Reduced plasma drug concentration|Reduced serum drug concentrations	http://purl.obolibrary.org/obo/HP_0020171	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	biolink:PhenotypicFeature	hp			Adverse drug reaction|Drug-induced reaction|Drug-induced response|Toxic drug response	http://purl.obolibrary.org/obo/HP_0020172	An unpleasant or harmful reaction resulting from treatment with a drug.
HP:0020173	Reduced drug efficacy	biolink:PhenotypicFeature	hp			Decreased drug efficacy	http://purl.obolibrary.org/obo/HP_0020173	Decreased response to a drug intervention in comparison to the expected response.
HP:0020174	Refractory drug response	biolink:PhenotypicFeature	hp			Drug resistance	http://purl.obolibrary.org/obo/HP_0020174	Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.
HP:0020175	Reduced cholinesterase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020175	A decreased amount of cholinesterase in the blood circulation.
HP:0020176	Cholesterol crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020176	
HP:0020177	Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells	biolink:PhenotypicFeature	hp			Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated	http://purl.obolibrary.org/obo/HP_0020177	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020178	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 haptoglobin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020179	A deviation from the normal concentration of haptoglobin in the blood circulation.
HP:0020180	Elevated haptoglobin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020180	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020181	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 A-type atrial natriuretic peptide level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020182	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020183	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020184	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020185	Abnormal morphological development of the superior part of the cerebellum.
HP:0020186	Multilobulated spleen	biolink:PhenotypicFeature	hp			Multi-lobulated spleen	http://purl.obolibrary.org/obo/HP_0020186	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	biolink:PhenotypicFeature	hp			Pachygyria with cortical thickness > 10 mm|Pachygyria with cortical thickness above 10 mm	http://purl.obolibrary.org/obo/HP_0020187	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020188	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	biolink:PhenotypicFeature	hp			Occipital predomimant classic pachygyria|Pachygyria with cortical thickness over 10 mm posterior predominant	http://purl.obolibrary.org/obo/HP_0020189	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	biolink:PhenotypicFeature	hp			Pachygyria with cortical thickness > 10 mm perisylvian predominant	http://purl.obolibrary.org/obo/HP_0020190	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	biolink:PhenotypicFeature	hp			Pachygyria with cortical thickness > 10 mm anterior predominant	http://purl.obolibrary.org/obo/HP_0020191	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020192	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020193	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	biolink:PhenotypicFeature	hp			Alpha heavy chain disease	http://purl.obolibrary.org/obo/HP_0020194	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	biolink:PhenotypicFeature	hp			Gamma heavy-chain disease	http://purl.obolibrary.org/obo/HP_0020195	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020196	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	biolink:PhenotypicFeature	hp			Increased circulating arachidonate level|Increased circulating arachidonic acid level	http://purl.obolibrary.org/obo/HP_0020197	An increased circulation of arachidonic acid in the blood circulation.
HP:0020198	Abnormal circulating 18-hydroxycorticosterone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020198	Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.
HP:0020199	Decreased circulating 18-hydroxycortisone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020199	A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.
HP:0020200	Increased circulating 18-hydroxycortisone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020200	An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.
HP:0020201	Abnormal sarcomere morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020201	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020202	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020203	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	biolink:PhenotypicFeature	hp			Renal tubulointerstitial bacterial organisms	http://purl.obolibrary.org/obo/HP_0020204	Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.
HP:0020205	Tubulointerstitial fungal infiltration	biolink:PhenotypicFeature	hp			Renal tubulointerstitial fungal organisms	http://purl.obolibrary.org/obo/HP_0020205	Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.
HP:0020206	Simple ear	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020206	The pinna has fewer folds and grooves than usual.
HP:0020207	Reflex seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020207	Seizures precipitated by exogenous stimuli.
HP:0020208	Eating-induced seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020208	A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.
HP:0020209	Hot water-induced seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020209	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020210	A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.
HP:0020211	Proprioceptive-induced seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020211	A seizure precipitated by movement or a change in posture.
HP:0020212	Reading-induced seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020212	A seizure precipitated by reading.
HP:0020213	Somatosensory-induced seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020213	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020214	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	biolink:PhenotypicFeature	hp			Cognition induced seizure	http://purl.obolibrary.org/obo/HP_0020215	Seizures induced by thinking and decision-making. comment:
HP:0020216	Visually-induced seizure	biolink:PhenotypicFeature	hp			Photosensitive seizure	http://purl.obolibrary.org/obo/HP_0020216	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	biolink:PhenotypicFeature	hp			Focal motor aware seizure	http://purl.obolibrary.org/obo/HP_0020217	A type of focal motor seizure in which awareness is retained throughout the seizure.
HP:0020218	Focal aware atonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020218	A type of focal atonic seizure during which awareness is fully retained throughout.
HP:0020219	Motor seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020219	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	biolink:PhenotypicFeature	hp			Localised atonic seizure|Localised hypotonic seizure|Localized atonic seizure|Localized hypotonic seizure|Partial atonic seizure|Partial hypotonic seizure|Segmental atonic seizure|Segmental hypotonic seizure	http://purl.obolibrary.org/obo/HP_0020220	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0020221	A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
HP:0025004	Hallux rigidus	biolink:PhenotypicFeature	hp	MSH:D020859|SNOMEDCT_US:6654000|UMLS:C0264134		Arthritis of the big toe	http://purl.obolibrary.org/obo/HP_0025004	Osteoarthritis of the metatarsophalangeal joint of the first toe.
HP:0025005	Thickening of glomerular capillary wall	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025005	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	biolink:PhenotypicFeature	hp			Abnormalities of the glomerular capillary wall	http://purl.obolibrary.org/obo/HP_0025006	A structural anomaly of the capillary blood vessels in the renal glomerulus.
HP:0025007	Ectopic fovea	biolink:PhenotypicFeature	hp			Ectopic macula	http://purl.obolibrary.org/obo/HP_0025007	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025008	Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.
HP:0025009	Forward slanting upper incisors	biolink:PhenotypicFeature	hp			Forward directed upper incisors|Proclination of the upper incisors|Protruding upper incisors	http://purl.obolibrary.org/obo/HP_0025009	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025010	Partial or complete loss of foveal tissue that was once present.
HP:0025011	Pyriform aperture stenosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025011	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025012	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	biolink:PhenotypicFeature	hp			Decerebrate posturing	http://purl.obolibrary.org/obo/HP_0025013	A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.
HP:0025014	Subcutaneous spheroids	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025014	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025015	
HP:0025016	Abnormal capillary morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025016	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025017	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025018	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025019	Sudden breakage of an artery leading to leakage of blood from the circulation.
HP:0025020	Elevated prostate-specific antigen level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025020	An increased concentration of prostate specific antigen (PSA) in the circulation.
HP:0025021	Abnormal erythrocyte sedimentation rate	biolink:PhenotypicFeature	hp			Abnormal ESR|Abnormal Westergren sedimentation rate	http://purl.obolibrary.org/obo/HP_0025021	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	biolink:PhenotypicFeature	hp			Decreased ESR|Low ESR	http://purl.obolibrary.org/obo/HP_0025022	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	biolink:PhenotypicFeature	hp			Atresia of the rectum	http://purl.obolibrary.org/obo/HP_0025023	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025024	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	biolink:PhenotypicFeature	hp			Vestibular fistula	http://purl.obolibrary.org/obo/HP_0025025	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025026	Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.
HP:0025027	Osteoma cutis	biolink:PhenotypicFeature	hp			Cutaneous osteosis|Miliary osteoma|Osteomatosis	http://purl.obolibrary.org/obo/HP_0025027	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025028	A structural anomaly of nerves of the enteric nervous system.
HP:0025029	Abnormality of enteric neuron morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025029	
HP:0025030	Enteric neuronal degeneration	biolink:PhenotypicFeature	hp			Degenerative enteric neuropathy	http://purl.obolibrary.org/obo/HP_0025030	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025031	
HP:0025032	Abnormality of digestive system physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025032	A functional anomaly of the digestive system.
HP:0025033	Abnormality of digestive system morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025033	A structural anomaly of the digestive system.
HP:0025034	Abnormal morphology of erythroid progenitor cell	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025034	Abnormal form of the progenitor cells committed to the erythroid lineage.
HP:0025035	Abnormal proerythroblast morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025035	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025037	Focal proliferation of glial cells in the hypothalamus.
HP:0025038	Intratesticular abscess	biolink:PhenotypicFeature	hp			Testicular abscess	http://purl.obolibrary.org/obo/HP_0025038	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	biolink:PhenotypicFeature	hp			Basal ganglia oedema|Edema of the basal ganglia|Oedema of the basal ganglia	http://purl.obolibrary.org/obo/HP_0025039	Swelling within the basal ganglia due to the accumulation of fluid.
HP:0025040	Thalamic edema	biolink:PhenotypicFeature	hp			Edema of the thalamus|Oedema of the thalamus|Thalamic oedema	http://purl.obolibrary.org/obo/HP_0025040	Swelling within the thalamus due to the accumulation of fluid.
HP:0025041	Thalamic calcification	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025041	Calcium deposition in the thalamus.
HP:0025042	Abnormality of mesenteric lymph nodes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025042	A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.
HP:0025043	Enlarged mesenteric lymph node	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025043	Increase in size of one or more mesenteric lymph nodes.
HP:0025044	Lung abscess	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025044	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	biolink:PhenotypicFeature	hp			Abnormal lactate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025045	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	biolink:PhenotypicFeature	hp			Reduced brain lactate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025046	A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025047	Abnormal brain choline level by MRS	biolink:PhenotypicFeature	hp			Abnormal brain choline level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025047	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	biolink:PhenotypicFeature	hp			Reduced brain choline level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025048	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	biolink:PhenotypicFeature	hp			Abnormal brain creatine level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025049	
HP:0025050	Elevated brain creatine level by MRS	biolink:PhenotypicFeature	hp			Elevated brain creatine level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025050	An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025051	Reduced brain creatine level by MRS	biolink:PhenotypicFeature	hp			Low brain creatine phosphate|Reduced brain creatine level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025051	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	biolink:PhenotypicFeature	hp			Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025052	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	biolink:PhenotypicFeature	hp			Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy	http://purl.obolibrary.org/obo/HP_0025053	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025057	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	biolink:PhenotypicFeature	hp			Atrophy of the hypothalamus|Partial or complete wasting (loss) of hypothalamus tissue that was once present.	http://purl.obolibrary.org/obo/HP_0025058	
HP:0025059	Splenic abscess	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025059	A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.
HP:0025060	Multifocal splenic abscess	biolink:PhenotypicFeature	hp			Multilocular splenic abscess	http://purl.obolibrary.org/obo/HP_0025060	Multiple abscess lesions in the spleen.
HP:0025061	Unifocal splenic abscess	biolink:PhenotypicFeature	hp			Solitary splenic abscess|Unilocular splenic abscess	http://purl.obolibrary.org/obo/HP_0025061	Single (solitary) abscess in the spleen.
HP:0025062	Geophagia	biolink:PhenotypicFeature	hp			Geophagy	http://purl.obolibrary.org/obo/HP_0025062	The practice of eating earth or soil-like substrates such as clay or chalk.
HP:0025063	Scaphoid abdomen	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025063	The anterior abdominal wall is sunken and presents a concave rather than a convex contour.
HP:0025064	Thalamic hemorrhage	biolink:PhenotypicFeature	hp			Thalamic haemorrhage	http://purl.obolibrary.org/obo/HP_0025064	Bleeding in the thalamus.
HP:0025065	Abnormal mean corpuscular volume	biolink:PhenotypicFeature	hp			Abnormal MCV|Abnormal erythrocyte volume	http://purl.obolibrary.org/obo/HP_0025065	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	biolink:PhenotypicFeature	hp			Decreased MCV|Microcytosis|Reduced erythrocyte volume	http://purl.obolibrary.org/obo/HP_0025066	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025068	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	biolink:PhenotypicFeature	hp			Comitant strabismus	http://purl.obolibrary.org/obo/HP_0025069	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025070	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025071	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	biolink:PhenotypicFeature	hp			Increased U wave amplitude	http://purl.obolibrary.org/obo/HP_0025072	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025073	U wave inversion that is induced by exercise stress testing.
HP:0025074	Abnormal QRS complex	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025074	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025075	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025076	Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).
HP:0025077	Decreased QRS voltage	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025077	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025078	The QRS complexes of the electrocardiogram alternate in height.
HP:0025079	Pancreatic abscess	biolink:PhenotypicFeature	hp			Pancreas abscess	http://purl.obolibrary.org/obo/HP_0025079	A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.
HP:0025080	Orthokeratotic hyperkeratosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025080	A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.
HP:0025081	Darier's sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025081	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	biolink:PhenotypicFeature	hp			Abnormal cutaneous elastic fibre morphology	http://purl.obolibrary.org/obo/HP_0025082	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025083	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	biolink:PhenotypicFeature	hp			Follicular pustule	http://purl.obolibrary.org/obo/HP_0025084	Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.
HP:0025085	Bloody diarrhea	biolink:PhenotypicFeature	hp			Blood in stool|Bloody stool|Bloody bowel movement|Bloody diarrhea|Bloody diarrhoea	http://purl.obolibrary.org/obo/HP_0025085	Passage of many stools containing blood.
HP:0025086	Bloody mucoid diarrhea	biolink:PhenotypicFeature	hp			Bloody mucoid diarrhoea	http://purl.obolibrary.org/obo/HP_0025086	Passage of many stools containing blood and mucus.
HP:0025087	Delayed recoil upon stretching of skin	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025087	Area of skin requiring an increased amount of time to return to its original shape after being stretched.
HP:0025088	Onychomadesis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025088	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	biolink:PhenotypicFeature	hp			Fecal vomiting|Stercoraceous vomiting|Vomiting fecal matter	http://purl.obolibrary.org/obo/HP_0025089	Vomiting of material that is of fecal origin.
HP:0025090	Abnormal large intestinal mucosa morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025090	A structural anomaly of the mucous lining of the large intestine.
HP:0025092	Epidermal acanthosis	biolink:PhenotypicFeature	hp			Thickening of upper layer of skin|Acanthosis|Acanthotic epidermis	http://purl.obolibrary.org/obo/HP_0025092	Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
HP:0025093	Peripapillary exudate	biolink:PhenotypicFeature	hp			Peripapillary exudation	http://purl.obolibrary.org/obo/HP_0025093	A retinal exudate in the area surrounding the optic nerve head.
HP:0025094	Disciform macular scar	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025094	A subretinal scar with a disc-like shape in the region of the macula.
HP:0025095	Sneeze	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025095	A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.
HP:0025096	Paroxysmal sneezing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025096	Unprovoked explosive pathological sneezing.
HP:0025097	Eyelid myoclonus	biolink:PhenotypicFeature	hp			Blepharoclonus|Eyelid myoclonia	http://purl.obolibrary.org/obo/HP_0025097	Marked, involuntary jerking of the eyelids.
HP:0025098	Dysgenesis of the hypothalamus	biolink:PhenotypicFeature	hp			Hypothalamic dysgenesis	http://purl.obolibrary.org/obo/HP_0025098	Structural abnormality of the hypothalamus related to defective development.
HP:0025099	Dysgenesis of the thalamus	biolink:PhenotypicFeature	hp			Thalamic dysgenesis	http://purl.obolibrary.org/obo/HP_0025099	Structural abnormality of the thalamus related to defective development.
HP:0025100	Abnormal hippocampus morphology	biolink:PhenotypicFeature	hp			Abnormal morphology of the hippocampus|Abnormality of hippocampus morphology	http://purl.obolibrary.org/obo/HP_0025100	Any structural anomaly of the hippocampus,
HP:0025101	Dysgenesis of the hippocampus	biolink:PhenotypicFeature	hp			Hippocampal dysgenesis	http://purl.obolibrary.org/obo/HP_0025101	Structural abnormality of the hippocampus related to defective development.
HP:0025102	Dysgenesis of the basal ganglia	biolink:PhenotypicFeature	hp			Basal ganglia dysgenesis	http://purl.obolibrary.org/obo/HP_0025102	Structural abnormality of the basal ganglia related to defective development.
HP:0025103	Umbilicated nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025103	A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).
HP:0025104	Capillary malformation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025104	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	biolink:PhenotypicFeature	hp			Naevus anaemicus	http://purl.obolibrary.org/obo/HP_0025105	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025106	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025107	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025108	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	biolink:PhenotypicFeature	hp			Reduced erythrocyte pyruvate kinase activity	http://purl.obolibrary.org/obo/HP_0025109	Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.
HP:0025110	Placoid macular lesion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025110	Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.
HP:0025112	Sound sensitivity	biolink:PhenotypicFeature	hp			Noise sensitivity	http://purl.obolibrary.org/obo/HP_0025112	Decreased tolerance to sound.
HP:0025113	Misophonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025113	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025114	Hypergranulosis is an increased thickness of the stratum granulosum.
HP:0025115	Civatte bodies	biolink:PhenotypicFeature	hp			Colloid bodies|Colloid bodies of Civatte|Cytoid bodies|Hyaline bodies	http://purl.obolibrary.org/obo/HP_0025115	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	biolink:PhenotypicFeature	hp			Foetal distress	http://purl.obolibrary.org/obo/HP_0025116	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	biolink:PhenotypicFeature	hp			Flattened rete pegs|Flattened rete ridges	http://purl.obolibrary.org/obo/HP_0025117	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025118	Lightening or darkening of the lips from their usual coloring.
HP:0025119	Violet lip discoloration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025119	An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.
HP:0025121	obsolete Simple partial occipital seizures	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025121	
HP:0025122	Sawtooth acanthosis	biolink:PhenotypicFeature	hp			Sawtoothed acanthosis	http://purl.obolibrary.org/obo/HP_0025122	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.	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025123	Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.
HP:0025124	Fragile teeth	biolink:PhenotypicFeature	hp			Enamel with tendency to chip|Spontaneous tooth fracture	http://purl.obolibrary.org/obo/HP_0025124	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025125	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025126	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	biolink:PhenotypicFeature	hp			Solar keratosis	http://purl.obolibrary.org/obo/HP_0025127	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025128	An abnormally reduced amount of adipose tissue in the abdominal cavity.
HP:0025129	Abnormal small intestinal mucosa morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025129	A structural anomaly of the mucous lining of the small intestine.
HP:0025130	Decreased small intestinal mucosa lactase level	biolink:PhenotypicFeature	hp			Lactase deficiency	http://purl.obolibrary.org/obo/HP_0025130	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	biolink:PhenotypicFeature	hp			Swelling of fingers|Swollen finger|Swollen fingers	http://purl.obolibrary.org/obo/HP_0025131	Enlargement of the soft tissues of one or more fingers.
HP:0025132	Abnormal circulating estrogen level	biolink:PhenotypicFeature	hp			Abnormal circulating oestrogen level|Abnormal estrogen level	http://purl.obolibrary.org/obo/HP_0025132	A deviation from normal concentration of the hormone estrogen in the blood circulation.
HP:0025133	Abnormal serum estradiol	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025133	A deviation from normal concentrations of estradiol in the circulation.
HP:0025134	Increased serum estradiol	biolink:PhenotypicFeature	hp			Increased estradiol level|Increased serum oestradiol	http://purl.obolibrary.org/obo/HP_0025134	An elevation above normal limits of the concentration of estradiol in the circulation.
HP:0025135	Abnormal serum estriol	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025135	A deviation from normal concentration of estriol in the circulation.
HP:0025136	Increased serum estriol	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025136	An elevation above normal limits of estriol concentration in the circulation.
HP:0025137	Decreased serum estriol	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025137	A reduction below normal limits of estriol in the circulation.
HP:0025138	Abnormal serum estrone	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025138	A deviation from the normal concentration of circulating estrone.
HP:0025139	Increased serum estrone	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025139	An elevation above normal limits of the concentration of estrone in the circulation.
HP:0025140	Decreased serum estrone	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025140	A reduction below normal limits of the concentration of estrone in the circulation.
HP:0025141	Gingival calcification	biolink:PhenotypicFeature	hp			Gingival calcifications	http://purl.obolibrary.org/obo/HP_0025141	Ectopic deposition of calcium salts found in the gingiva.
HP:0025142	Constitutional symptom	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025142	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	biolink:PhenotypicFeature	hp			Chills	http://purl.obolibrary.org/obo/HP_0025143	A sudden sensation of feeling cold.
HP:0025144	Shivering	biolink:PhenotypicFeature	hp			Shivering|Shuddering	http://purl.obolibrary.org/obo/HP_0025144	Involuntary contraction or twitching of the muscles.
HP:0025145	Rigors	biolink:PhenotypicFeature	hp			Rigours	http://purl.obolibrary.org/obo/HP_0025145	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025146	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	biolink:PhenotypicFeature	hp			Beaten metal macular appearance|Beaten-bronze macular appearance|Beaten-bronze macular sheen	http://purl.obolibrary.org/obo/HP_0025147	A shiny appearance of the macula, which is often called a beaten bronze appearance.
HP:0025148	Dark choroid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025148	A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).
HP:0025149	Atrophic muscularis propria	biolink:PhenotypicFeature	hp			Autonomic visceral myopathy|Degenerative enteric myopathy	http://purl.obolibrary.org/obo/HP_0025149	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025150	Sparse and small myenteric ganglia
HP:0025151	Ganglioneuromatosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025151	Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.
HP:0025152	Poor visual behavior for age	biolink:PhenotypicFeature	hp			Abnormal visual behavior for age|Abnormal visual behaviour for age|Poor visual behaviour for age	http://purl.obolibrary.org/obo/HP_0025152	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025153	Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.
HP:0025154	Portosystemic collateral veins	biolink:PhenotypicFeature	hp			Collateral biliary circulation|Collateral biliary veins	http://purl.obolibrary.org/obo/HP_0025154	Presence of biliary veins that serve as a collateral channel to the systemic circulation
HP:0025155	Abnormality of hepatobiliary system physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025155	A functional anomaly of the hepatobiliary system
HP:0025156	Dependency on intravenous nutrition	biolink:PhenotypicFeature	hp			Dependency on IV nutrition	http://purl.obolibrary.org/obo/HP_0025156	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025157	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025158	Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
HP:0025159	Hypoautofluorescent retinal lesion	biolink:PhenotypicFeature	hp			Hypo-autofluorescent retinal lesion	http://purl.obolibrary.org/obo/HP_0025159	Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
HP:0025160	Abnormal temper tantrums	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025160	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025161	Temper tantrums that occur more frequently than usual.
HP:0025162	Severe temper tantrums	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025162	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025163	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	biolink:PhenotypicFeature	hp			Increased number of elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025164	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	biolink:PhenotypicFeature	hp			Clumping of elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025165	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	biolink:PhenotypicFeature	hp			Thickened elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025166	An increase of the diameter of elastic fibers in the dermis.
HP:0025167	Fragmented elastic fibers in the dermis	biolink:PhenotypicFeature	hp			Fragmented elastic fibres in the dermis	http://purl.obolibrary.org/obo/HP_0025167	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025168	Abnormal function of the left ventricule during left ventricular relaxation and filling.
HP:0025169	Left ventricular systolic dysfunction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025169	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	biolink:PhenotypicFeature	hp			Neuronal/glioneuronal neoplasm of the CNS|Glioneuronal tumor|Neuronal and mixed neuronal-glial tumor	http://purl.obolibrary.org/obo/HP_0025170	A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.
HP:0025171	Rosette-forming glioneuronal tumor	biolink:PhenotypicFeature	hp			Rosette-forming glioneuronal neoplasm|Rosette-forming glioneuronal tumour|Rosette-forming glioneuronal tumor of the fourth ventricle	http://purl.obolibrary.org/obo/HP_0025171	A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025172	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025173	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025174	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025175	Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis.
HP:0025176	Intralobular interstitial thickening	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025176	A fine reticular pattern on high-resolution computeed 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025177	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	biolink:PhenotypicFeature	hp			Subpleural scarring	http://purl.obolibrary.org/obo/HP_0025178	Increase in thickness of the subpleural interstitium.
HP:0025179	Ground-glass opacification on pulmonary HRCT	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025179	A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings.
HP:0025180	Centrilobular ground-glass opacification on pulmonary HRCT	biolink:PhenotypicFeature	hp			Centrilobular groundglass opacification|Centrilobular groundglass opacity	http://purl.obolibrary.org/obo/HP_0025180	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025181	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	biolink:PhenotypicFeature	hp			Localised area of pendulous skin	http://purl.obolibrary.org/obo/HP_0025182	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	biolink:PhenotypicFeature	hp			Marcus Gunn jaw-winking syndrome|Pterygoid-levator synkinesis|Trigemino-oculomotor synkinesis	http://purl.obolibrary.org/obo/HP_0025186	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025188	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	biolink:PhenotypicFeature	hp			Bilateral tonic-clonic seizure with generalised onset|Generalised tonic-clonic seizure without focal onset|Generalised tonic-clonic seizure without partial onset|Generalised tonic-clonic seizures without focal onset|Generalised-onset tonic-clonic seizure|Generalized tonic-clonic seizure without focal onset|Generalized tonic-clonic seizure without partial onset|Generalized tonic-clonic seizures without focal onset|Generalized-onset tonic-clonic seizure|Primarily generalised tonic-clonic seizures|Primarily generalized tonic-clonic seizures|Primary generalised tonic-clonic seizure|Primary generalised tonic-clonic seizures|Primary generalized tonic-clonic seizure|Primary generalized tonic-clonic seizures	http://purl.obolibrary.org/obo/HP_0025190	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:0025191	obsolete Segmental myoclonic seizures	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025191	
HP:0025192	Subtentorial periventricular white matter hyperdensity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025192	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	biolink:PhenotypicFeature	hp			Bochdalek hernia	http://purl.obolibrary.org/obo/HP_0025193	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	biolink:PhenotypicFeature	hp			Morgagni hernia	http://purl.obolibrary.org/obo/HP_0025194	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	biolink:PhenotypicFeature	hp			Central hernia	http://purl.obolibrary.org/obo/HP_0025195	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025196	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	biolink:PhenotypicFeature	hp			Digital fibrous tumor of Reye|Infantile digital fibroma|Infantile digital fibromatosis	http://purl.obolibrary.org/obo/HP_0025197	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025198	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	biolink:PhenotypicFeature	hp			Muscle fibre actin filament accumulation|Accumulation in muscle cells of filaments composed of actin.	http://purl.obolibrary.org/obo/HP_0025200	
HP:0025201	Abnormal circulating apolipoprotein concentration	biolink:PhenotypicFeature	hp			Abnormal apolipoprotein level	http://purl.obolibrary.org/obo/HP_0025201	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	biolink:PhenotypicFeature	hp			Elevated apolipoprotein A-IV level	http://purl.obolibrary.org/obo/HP_0025202	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	biolink:PhenotypicFeature	hp			Palm tree sign	http://purl.obolibrary.org/obo/HP_0025203	Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.
HP:0025204	Triggered by	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025204	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	biolink:PhenotypicFeature	hp			Triggered by breastfeeding|Breastfeeding triggered symptoms	http://purl.obolibrary.org/obo/HP_0025205	Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.
HP:0025206	Triggered by cold	biolink:PhenotypicFeature	hp			Triggered by cold temperature|Cold triggered symptoms	http://purl.obolibrary.org/obo/HP_0025206	Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.
HP:0025207	Triggered by dehydration	biolink:PhenotypicFeature	hp			Triggered by dehydration|Dehydration triggered symptoms	http://purl.obolibrary.org/obo/HP_0025207	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	biolink:PhenotypicFeature	hp			Triggered by carbohydrate ingestion|Carbohydrate ingestion triggered symptoms	http://purl.obolibrary.org/obo/HP_0025208	Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.
HP:0025209	Triggered by fructose ingestion	biolink:PhenotypicFeature	hp			Trigged by fruit sugar	http://purl.obolibrary.org/obo/HP_0025209	Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.
HP:0025210	Triggered by glucose ingestion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025210	Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.
HP:0025211	Triggered by ethanol ingestion	biolink:PhenotypicFeature	hp			Triggered by alcohol ingestion|Ethanol ingestion triggered symptoms	http://purl.obolibrary.org/obo/HP_0025211	Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.
HP:0025212	Triggered by fasting	biolink:PhenotypicFeature	hp			Triggered by fasting|Fasting triggered attacks|Fasting triggered symptoms	http://purl.obolibrary.org/obo/HP_0025212	Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).
HP:0025213	Triggered by galactose ingestion	biolink:PhenotypicFeature	hp			Triggered by ingestion of lactose-containing milk	http://purl.obolibrary.org/obo/HP_0025213	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	biolink:PhenotypicFeature	hp			Triggered by heat|Heat triggered symptoms	http://purl.obolibrary.org/obo/HP_0025214	Applies to a sign or symptom that is provoked or brought about by exposure to heat.
HP:0025215	Triggered by febrile illness	biolink:PhenotypicFeature	hp			Triggered by fever|Febrile illness triggered symptoms	http://purl.obolibrary.org/obo/HP_0025215	Applies to a sign or symptom that is provoked or brought about by febrile illness.
HP:0025216	Triggered by heavy meal	biolink:PhenotypicFeature	hp			Triggered by overeating|Heavy meal triggered symptoms	http://purl.obolibrary.org/obo/HP_0025216	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	biolink:PhenotypicFeature	hp			Triggered by high-fat diet|High-fat diet triggered symptoms	http://purl.obolibrary.org/obo/HP_0025217	Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.
HP:0025218	Triggered by hyperventilation	biolink:PhenotypicFeature	hp			Triggered by hyperventilation|Hyperventilation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025218	Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.
HP:0025219	Triggered by vaccination	biolink:PhenotypicFeature	hp			Triggered by vaccination|Triggered by immunization|Vaccination triggered symptoms	http://purl.obolibrary.org/obo/HP_0025219	Applies to a sign or symptom that is provoked or brought about by a vaccination.
HP:0025220	Triggered by menstruation	biolink:PhenotypicFeature	hp			Triggered by monthly period|Triggered by period|Menstruation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025220	Applies to a sign or symptom that is provoked or brought about by menstruation in a female.
HP:0025221	Triggered by pregnancy	biolink:PhenotypicFeature	hp			Triggered by pregnancy|Pregnancy triggered symptoms	http://purl.obolibrary.org/obo/HP_0025221	Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.
HP:0025222	Triggered by sleep deprivation	biolink:PhenotypicFeature	hp			Triggered by sleep deprivation|Sleep deprivation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025222	Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.
HP:0025223	Triggered by smoking	biolink:PhenotypicFeature	hp			Triggered by cigarette consumption|Triggered by smoking|Triggered by tobacco use|Smoking triggered symptoms	http://purl.obolibrary.org/obo/HP_0025223	Applies to a sign or symptom that is provoked or brought about by smoking.
HP:0025224	Triggered by sodium ingestion	biolink:PhenotypicFeature	hp			Triggered by Na ingestion|Triggered by Na+ ingestion|Triggered by salt ingestion|Sodium ingestion triggered symptoms|Sodium intake triggered attacks|Triggered by sodium intake	http://purl.obolibrary.org/obo/HP_0025224	Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.
HP:0025225	Triggered by sound	biolink:PhenotypicFeature	hp			Triggered by sound|Sound triggered symptoms	http://purl.obolibrary.org/obo/HP_0025225	Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.
HP:0025226	Triggered by stress	biolink:PhenotypicFeature	hp			Triggered by stress|Stress triggered symptoms	http://purl.obolibrary.org/obo/HP_0025226	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	biolink:PhenotypicFeature	hp			Triggered by excitement|Excitement triggered symptoms|Triggered by startle	http://purl.obolibrary.org/obo/HP_0025227	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	biolink:PhenotypicFeature	hp			Triggered by sudden movement|Kinesigenic|Sudden movement triggered symptoms	http://purl.obolibrary.org/obo/HP_0025228	Applies to a sign or symptom that is provoked or brought about by a sudden movement.
HP:0025229	Triggered by vestibular stimulation	biolink:PhenotypicFeature	hp			Vestibular stimulation triggered attacks|Vestibular stimulation triggered symptoms	http://purl.obolibrary.org/obo/HP_0025229	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	biolink:PhenotypicFeature	hp			Teninitis	http://purl.obolibrary.org/obo/HP_0025230	Inflammation of a tendon.
HP:0025231	Abnormality of synovial bursa morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025231	A structural anomaly of a synovial bursa.
HP:0025232	Bursitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025232	Inflammation of a synovial bursa.
HP:0025233	Sleep paralysis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025233	An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.
HP:0025234	Parasomnia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025234	An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep.
HP:0025235	Non-rapid eye movement parasomnia	biolink:PhenotypicFeature	hp			NREM parasomnia	http://purl.obolibrary.org/obo/HP_0025235	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	biolink:PhenotypicFeature	hp			Sleep walking	http://purl.obolibrary.org/obo/HP_0025236	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025237	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	biolink:PhenotypicFeature	hp			Foot pain	http://purl.obolibrary.org/obo/HP_0025238	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.
HP:0025239	Subhyaloid hemorrhage	biolink:PhenotypicFeature	hp			Subhyaloid haemorrhage|Subhyaloid heme	http://purl.obolibrary.org/obo/HP_0025239	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	biolink:PhenotypicFeature	hp			Preretinal haemorrhage|Preretinal heme	http://purl.obolibrary.org/obo/HP_0025240	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	biolink:PhenotypicFeature	hp			Flame-shaped retinal haemorrhage|Feathered retinal heme|Linear retina heme	http://purl.obolibrary.org/obo/HP_0025241	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	biolink:PhenotypicFeature	hp			Dot-and-blot retinal haemorrhage|Round retinal heme	http://purl.obolibrary.org/obo/HP_0025242	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	biolink:PhenotypicFeature	hp			Subretinal haemorrhage|Subretinal heme	http://purl.obolibrary.org/obo/HP_0025243	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	biolink:PhenotypicFeature	hp			Subretinal pigment epithelium haemorrhage	http://purl.obolibrary.org/obo/HP_0025244	An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.
HP:0025245	Cutaneous cyst	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025245	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	biolink:PhenotypicFeature	hp			Pilar cyst	http://purl.obolibrary.org/obo/HP_0025246	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025247	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025248	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025249	A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
HP:0025250	Closed comedo	biolink:PhenotypicFeature	hp			Whitehead	http://purl.obolibrary.org/obo/HP_0025250	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	biolink:PhenotypicFeature	hp			Blackhead	http://purl.obolibrary.org/obo/HP_0025251	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	biolink:PhenotypicFeature	hp			Annulus migrans|Benign migratory glossitis|Glossitis areata exfoliativa|Lingual erythema migrans|Wandering rash of the tongue	http://purl.obolibrary.org/obo/HP_0025252	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025253	An abnormal fear of being in a closed or narrow space with no escape.
HP:0025254	Ameliorated by	biolink:PhenotypicFeature	hp			Improved by	http://purl.obolibrary.org/obo/HP_0025254	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	biolink:PhenotypicFeature	hp			Pregnancy relieves symptoms	http://purl.obolibrary.org/obo/HP_0025255	Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.
HP:0025256	Ameliorated by heat	biolink:PhenotypicFeature	hp			Heat improves condition|Heat improves symptom|Fever improves condition	http://purl.obolibrary.org/obo/HP_0025256	Applies to a sign or symptom that is improved or made more bearable by heat (including fever).
HP:0025257	Ameliorated by carbohydrate ingestion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025257	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	biolink:PhenotypicFeature	hp			Neck stiffness|Stiff neck	http://purl.obolibrary.org/obo/HP_0025258	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	biolink:PhenotypicFeature	hp			Elbow stiffness|Stiff elbow	http://purl.obolibrary.org/obo/HP_0025259	A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.
HP:0025260	Stiff wrist	biolink:PhenotypicFeature	hp			Stiff wrist|Wrist stiffness	http://purl.obolibrary.org/obo/HP_0025260	A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.
HP:0025261	Stiff finger	biolink:PhenotypicFeature	hp			Finger stiffness|Stiff finger	http://purl.obolibrary.org/obo/HP_0025261	A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.
HP:0025262	Stiff hip	biolink:PhenotypicFeature	hp			Hip stiffness|Stiff hip	http://purl.obolibrary.org/obo/HP_0025262	A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.
HP:0025263	Stiff knee	biolink:PhenotypicFeature	hp			Knee stiffness|Stiff knee	http://purl.obolibrary.org/obo/HP_0025263	A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.
HP:0025264	Stiff ankle	biolink:PhenotypicFeature	hp			Ankle stiffness|Stiff ankle	http://purl.obolibrary.org/obo/HP_0025264	A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.
HP:0025265	Stiff toe	biolink:PhenotypicFeature	hp			Stiff toe|Toe stiffness	http://purl.obolibrary.org/obo/HP_0025265	A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.
HP:0025266	Cervical osteoarthritis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025266	Degeneration (wear and tear) of the articular cartilage of the neck joints.
HP:0025267	Snoring	biolink:PhenotypicFeature	hp			Snore|Snores|Snoring symptoms	http://purl.obolibrary.org/obo/HP_0025267	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	biolink:PhenotypicFeature	hp			Stammering|Stuttering	http://purl.obolibrary.org/obo/HP_0025268	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	biolink:PhenotypicFeature	hp			Panic attack	http://purl.obolibrary.org/obo/HP_0025269	A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some individuals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.
HP:0025270	Abnormality of esophagus physiology	biolink:PhenotypicFeature	hp			Abnormality of oesophagus physiology|Functional abnormality of the esophagus	http://purl.obolibrary.org/obo/HP_0025270	Any physiological abnormality of the esophagus.
HP:0025271	Esophageal spasms	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025271	Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.
HP:0025272	Melasma	biolink:PhenotypicFeature	hp			Chloasma|Facial melanosis	http://purl.obolibrary.org/obo/HP_0025272	Symmetrical, blotchy, brownish facial pigmentation.
HP:0025273	Achilles tendonitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025273	Inflammation of the Achilles tendon.
HP:0025274	Ovarian dermoid cyst	biolink:PhenotypicFeature	hp			Mature cystic ovarian teratoma	http://purl.obolibrary.org/obo/HP_0025274	An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.
HP:0025275	Lateral	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025275	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025276	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025277	Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).
HP:0025278	Cold-induced sweating	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025278	Sweating provoked by cold temperature rather than by heat.
HP:0025279	Migratory	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025279	
HP:0025280	Pain characteristic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025280	A pain characteristic is defined as a subjective category or type of pain.
HP:0025281	Sharp	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025281	Applied to pain that is described as sharp, i.e., sudden and severe.
HP:0025282	Dull	biolink:PhenotypicFeature	hp			Dull pain	http://purl.obolibrary.org/obo/HP_0025282	Applied to pain that is dull, i.e., not severe but that continues over a long period of time.
HP:0025283	Tender	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025283	Applied to pain that is tender, i.e., elicited by touching the affected body part.
HP:0025284	Sleep-interrupting	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025284	Applied to pain that wakes the affecting individual from sleep.
HP:0025285	Aggravated by	biolink:PhenotypicFeature	hp			Exacerbated by	http://purl.obolibrary.org/obo/HP_0025285	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	biolink:PhenotypicFeature	hp			Aggravated by exercise|Aggravated by exertion|Worse with activity|Worsened by activity	http://purl.obolibrary.org/obo/HP_0025286	Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.
HP:0025287	Axial	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025287	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	biolink:PhenotypicFeature	hp			Swollen lymph nodes in the neck	http://purl.obolibrary.org/obo/HP_0025289	Enlarged lymph nodes in the neck.
HP:0025290	Upper-body predominance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025290	Applies to an abnormality that affects the arms, trunk, head more than the legs.
HP:0025291	Lower-body predominance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025291	Applies to an abnormality that affects the legs more than the arms, trunk, head.
HP:0025292	Acral	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025292	Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).
HP:0025293	Distributed along Blaschko lines	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025293	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	biolink:PhenotypicFeature	hp			Radicular	http://purl.obolibrary.org/obo/HP_0025294	Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.
HP:0025295	Herpetiform	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025295	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025296	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025297	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	biolink:PhenotypicFeature	hp			Butterfly rash|Cheekbone rash	http://purl.obolibrary.org/obo/HP_0025300	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025301	Applies to an abnormality that occurs in or is exacerbated during the night.
HP:0025302	Diurnal	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025302	Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.
HP:0025303	Episodic	biolink:PhenotypicFeature	hp			Now and then	http://purl.obolibrary.org/obo/HP_0025303	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	biolink:PhenotypicFeature	hp			Cyclic|Cyclical	http://purl.obolibrary.org/obo/HP_0025304	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025305	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025306	Acute appearance of disease manifestations in a period of minutes.
HP:0025307	Acute emergence over hours	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025307	Acute appearance of disease manifestations in a period of hours.
HP:0025308	Acute emergence over days	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025308	Acute appearance of disease manifestations in a period of days.
HP:0025309	Abnormal pupil shape	biolink:PhenotypicFeature	hp			Irregular pupil	http://purl.obolibrary.org/obo/HP_0025309	A deviation from the normal circular shape of the pupil
HP:0025310	Oval pupil	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025310	An abnormal pupil shape that is elliptical, i.e., egg-like.
HP:0025311	Anterior chamber cyst	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025311	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025312	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025313	A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.
HP:0025314	Choroidal nevus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025314	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025315	Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.
HP:0025317	Cubitus varus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025317	A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.
HP:0025318	Ovarian carcinoma	biolink:PhenotypicFeature	hp	NCIT:C4908		Ovarian epithelial cancer	http://purl.obolibrary.org/obo/HP_0025318	A malignant neoplasm originating from the surface ovarian epithelium.
HP:0025319	Rubeosis iridis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025319	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	biolink:PhenotypicFeature	hp			Fluorescein leakage	http://purl.obolibrary.org/obo/HP_0025320	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	biolink:PhenotypicFeature	hp			Liver copper accumulation	http://purl.obolibrary.org/obo/HP_0025321	An anomalous build up of copper (Cu) in the liver.
HP:0025322	Venous occlusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025322	Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.
HP:0025323	Abnormal arterial physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025323	An anomaly of arterial function.
HP:0025324	Arterial occlusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025324	Blockage of blood flow through an artery.
HP:0025325	Sparse medial eyebrow	biolink:PhenotypicFeature	hp			Medial thinning of eyebrow	http://purl.obolibrary.org/obo/HP_0025325	Decreased density/number and/or decreased diameter of medial eyebrow hairs.
HP:0025326	Retinal arterial occlusion	biolink:PhenotypicFeature	hp			Retinal artery occlusion	http://purl.obolibrary.org/obo/HP_0025326	Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.
HP:0025327	Decreased renal parenchymal thickness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025327	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	biolink:PhenotypicFeature	hp			Antepartum haemorrhage|Prepartum haemorrhage|Prepartum hemorrhage	http://purl.obolibrary.org/obo/HP_0025328	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	biolink:PhenotypicFeature	hp			Anti-GAD antibody positivity	http://purl.obolibrary.org/obo/HP_0025329	The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.
HP:0025330	Downgaze palsy	biolink:PhenotypicFeature	hp			Downgaze paresis|Supranuclear downgaze palsy	http://purl.obolibrary.org/obo/HP_0025330	A limitation of the ability to direct one's gaze below the horizontal meridian.
HP:0025331	Upgaze palsy	biolink:PhenotypicFeature	hp			Supranuclear upgaze palsy|Upgaze paresis	http://purl.obolibrary.org/obo/HP_0025331	A limitation of the ability to direct one's gaze above the horizontal meridian.
HP:0025332	Abnormality of foot cortical bone	biolink:PhenotypicFeature	hp			Abnormality of the cortex of foot bones	http://purl.obolibrary.org/obo/HP_0025332	An anomaly of the outer shell (cortex) of a foot bone.
HP:0025333	Cortical thinning of foot bones	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025333	A reduction in the thickness of the outer shell (cortex) of foot bones.
HP:0025334	Triggered by emotion	biolink:PhenotypicFeature	hp			Emotion triggered symptoms	http://purl.obolibrary.org/obo/HP_0025334	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025335	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025336	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	biolink:PhenotypicFeature	hp			Red eye|Red eyes	http://purl.obolibrary.org/obo/HP_0025337	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	biolink:PhenotypicFeature	hp			Circumlimbal hyperaemia|Ciliary limbus	http://purl.obolibrary.org/obo/HP_0025338	A ring of redness at the limbus of the eye, the border between the cornea and the sclera.
HP:0025339	Superficial episcleral hyperemia	biolink:PhenotypicFeature	hp			Superficial episcleral hypaeremia	http://purl.obolibrary.org/obo/HP_0025339	Prominence of blood vessels of the superficial episcleral tissues.
HP:0025340	Deep episcleral hyperemia	biolink:PhenotypicFeature	hp			Deep episcleral hyperaemia	http://purl.obolibrary.org/obo/HP_0025340	Prominence of blood vessels of the deep episcleral tissues.
HP:0025341	Corneal keratic precipitates	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025341	An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.
HP:0025342	Central retinal artery occlusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025342	Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.
HP:0025343	Lupus anticoagulant	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025343	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025344	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	biolink:PhenotypicFeature	hp			Abnormality of circulating B2M level|Abnormality of circulating beta2-m level|Abnormality of circulating beta2m level|Abnormality of circulating beta2 microglobulin level	http://purl.obolibrary.org/obo/HP_0025345	A deviation from the normal concentration of beta-2-microglobulin in the blood.
HP:0025346	Increased circulating beta-2-microglobulin level	biolink:PhenotypicFeature	hp			Elevated circulating beta-2-microglobulin level	http://purl.obolibrary.org/obo/HP_0025346	Elevated concentration of beta-2-microglobulin in the blood.
HP:0025347	Decreased circulating beta-2-microglobulin level	biolink:PhenotypicFeature	hp			Reduced circulating beta-2-microglobulin level	http://purl.obolibrary.org/obo/HP_0025347	Reduced concentration of beta-2-microglobulin in the blood.
HP:0025348	Abnormality of the corneal limbus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025348	An anomaly of the margin of the cornea overlapped by the sclera.
HP:0025349	Limbal edema	biolink:PhenotypicFeature	hp			Limbal oedema	http://purl.obolibrary.org/obo/HP_0025349	Swelling of the margin of the cornea overlapped by the sclera.
HP:0025350	Giant conjunctival papillae	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025350	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	biolink:PhenotypicFeature	hp			Recurrent interdigital tinea	http://purl.obolibrary.org/obo/HP_0025351	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	Autosomal dominant germline de novo mutation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025352	Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation.
HP:0025353	Anti-multiple nuclear dots antibody positivity	biolink:PhenotypicFeature	hp			Anti-MND antibodies|Anti-sp100 antibody positivity	http://purl.obolibrary.org/obo/HP_0025353	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025354	An anomaly of cellular morphology or physiology.
HP:0025355	Retinal arterial macroaneurysms	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025355	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:0025356	Psychomotor retardation	biolink:PhenotypicFeature	hp			Motormental retardation|Psychomotor impairment|Psychomotor slowing	http://purl.obolibrary.org/obo/HP_0025356	
HP:0025357	Erratic myoclonus	biolink:PhenotypicFeature	hp			Fragmentary myoclonus	http://purl.obolibrary.org/obo/HP_0025357	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	biolink:PhenotypicFeature	hp			Ectropion uveae	http://purl.obolibrary.org/obo/HP_0025358	Presence of iris pigment epithelium on the anterior surface of the iris.
HP:0025359	Polygonal renal calices	biolink:PhenotypicFeature	hp			Polygonal calices|Polygonal-shaped calices	http://purl.obolibrary.org/obo/HP_0025359	An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).
HP:0025360	Polycalycosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025360	Increased number of calices of the kidney.
HP:0025361	Abnormality of medullary pyramid morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025361	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	biolink:PhenotypicFeature	hp			Hypoplasia of the medullary pyramids	http://purl.obolibrary.org/obo/HP_0025362	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	biolink:PhenotypicFeature	hp			Endocapillary hypercellularity	http://purl.obolibrary.org/obo/HP_0025363	Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.
HP:0025364	Glomerular extracapillary hypercellularity	biolink:PhenotypicFeature	hp			Extracapillary glomerular hypercellularity|Extracapillary hypercellularity	http://purl.obolibrary.org/obo/HP_0025364	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025367	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	Abnormality of growth plate morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025368	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025369	Increased thickness (dimension along the axis of the bone) of the growth plate.
HP:0025370	Abnormal ossification of the sacrum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025370	Abnormal bone tissue formation (ossification) affecting the sacrum.
HP:0025371	Delayed ossification of the sacrum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025371	Formation of the sacrum bone tissue occurs later than age-adjusted norms.
HP:0025372	Loud snoring	biolink:PhenotypicFeature	hp			Has loud snoring|Have loud snoring|Heavy snoring|Snores loudly	http://purl.obolibrary.org/obo/HP_0025372	Particularly loud snoring, snoring at high volume.
HP:0025373	Interictal EEG abnormality	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025373	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025374	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025375	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	biolink:PhenotypicFeature	hp			Glutaminuria	http://purl.obolibrary.org/obo/HP_0025376	An increased concentration of glutamine in the urine.
HP:0025377	Triggered by exertion	biolink:PhenotypicFeature	hp			Exertion triggered symptoms|Triggered by physical exercise	http://purl.obolibrary.org/obo/HP_0025377	Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.
HP:0025379	Anti-thyroid peroxidase antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025379	The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
HP:0025380	Increased serum androstenedione	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025380	Increased level of circulating 4-androstenedione.
HP:0025381	Anti-pituitary antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025381	Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.
HP:0025382	Hypodipsia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025382	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	biolink:PhenotypicFeature	hp			Buffalo hump	http://purl.obolibrary.org/obo/HP_0025383	An area of fat accumulation at the back of the neck in the form of a hump.
HP:0025384	Diet-resistant subcutaneous adipose tissue	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025384	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025385	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025386	Depression of profile in both temporal regions.
HP:0025387	Pill-rolling tremor	biolink:PhenotypicFeature	hp			Pill rolling	http://purl.obolibrary.org/obo/HP_0025387	A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.
HP:0025388	Thyroid nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025388	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	biolink:PhenotypicFeature	hp			Pulmonary interstitiatial HRCT abnormality	http://purl.obolibrary.org/obo/HP_0025389	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025390	On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.
HP:0025391	Crazy paving pattern on pulmonary HRCT	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025391	The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones.
HP:0025392	Nodular pattern on pulmonary HRCT	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025392	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025393	Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.
HP:0025394	Cystic pattern on pulmonary HRCT	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025394	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025395	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	biolink:PhenotypicFeature	hp			Black lung pattern on pulmonary HRCT	http://purl.obolibrary.org/obo/HP_0025396	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025397	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025398	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025399	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025400	A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.
HP:0025401	Staring gaze	biolink:PhenotypicFeature	hp			Staring eyes	http://purl.obolibrary.org/obo/HP_0025401	An abnormality in which the eyes are held permanently wide open.
HP:0025402	Square-wave jerks	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025402	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025403	A habitual positioning of the body with the head and upper back bent forward.
HP:0025404	Abnormal visual fixation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025404	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	biolink:PhenotypicFeature	hp			Instability of ocular fixation	http://purl.obolibrary.org/obo/HP_0025405	A deficit in the ability to fixate eye movements in order to stabilize images on the retina
HP:0025406	Asthenia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025406	A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
HP:0025407	Rectourethral fistula	biolink:PhenotypicFeature	hp			Urethrorectal fistula	http://purl.obolibrary.org/obo/HP_0025407	An abnormal connection (fistula) between the rectum and the urethra.
HP:0025408	Abnormal spleen morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025408	Any anomaly of the structure of the spleen.
HP:0025409	Abnormal spleen physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025409	Any anomaly of the function of the spleen.
HP:0025410	Splenogonadal fusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025410	Joining of the spleen and a gonad during embryological development.
HP:0025413	Fossa navicularis urethral stricture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025413	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025414	A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.
HP:0025415	Bulbar urethral stricture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025415	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025416	A narrowing of the vagina owing to scar formation.
HP:0025417	Patulous urethra	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025417	Urethra more open or expanded than normal.
HP:0025418	Renal cortical necrosis	biolink:PhenotypicFeature	hp			Necrosis of the kidney cortex	http://purl.obolibrary.org/obo/HP_0025418	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	biolink:PhenotypicFeature	hp			Pulmonary pneumatocoele	http://purl.obolibrary.org/obo/HP_0025419	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	biolink:PhenotypicFeature	hp			Diffuse alveolar haemorrhage	http://purl.obolibrary.org/obo/HP_0025420	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025421	The presence of free air in the mediastinum.
HP:0025422	Pleural cyst	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025422	A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.
HP:0025423	Abnormal larynx morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025423	Any anomaly of the structure of the larynx.
HP:0025424	Abnormal larynx physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025424	Any anomaly of the function of the larynx.
HP:0025425	Laryngospasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025425	A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.
HP:0025426	Abnormal bronchus morphology	biolink:PhenotypicFeature	hp			Abnormality of the bronchi	http://purl.obolibrary.org/obo/HP_0025426	Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.
HP:0025427	Abnormal bronchus physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025427	Any anomaly of the function of the bronchi.
HP:0025428	Bronchospasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025428	A spasm (sudden, involuntary constriction) of the bronchioles.
HP:0025429	Abnormal cry	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025429	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025430	A type of crying in an abnormally high-pitched voice.
HP:0025431	Staccato cry	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025431	A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.
HP:0025432	Acanthoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025432	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025433	Reduced level of the enzyme lecithin cholesterol acyl transferase.
HP:0025434	Reduced hemolytic complement activity	biolink:PhenotypicFeature	hp			Reduced CH50	http://purl.obolibrary.org/obo/HP_0025434	A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
HP:0025435	Increased lactate dehydrogenase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025435	An elevated level of the enzyme lactate dehydrogenase in serum.
HP:0025436	Elevated serum 11-deoxycortisol	biolink:PhenotypicFeature	hp			Elevated serum 21-hydroxyprogesterone|Elevated serum deoxycorticosterone	http://purl.obolibrary.org/obo/HP_0025436	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025437	Increased size of the head of sperm.
HP:0025439	Pharyngitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025439	Inflammation (due to infection or irritation) of the pharynx.
HP:0025440	Warm reactive autoantibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025440	Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.
HP:0025441	Achilles tendon calcification	biolink:PhenotypicFeature	hp			Calcification of the Achilles tendon	http://purl.obolibrary.org/obo/HP_0025441	Ectopic deposition of calcium salts in the Achilles tendon.
HP:0025443	Abnormal cardiac atrial physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025443	An abnormality of the function of the cardiac atria.
HP:0025444	Reduced amygdala volume	biolink:PhenotypicFeature	hp			Decrease in amygdala volume	http://purl.obolibrary.org/obo/HP_0025444	A decrease in the volume (size) of the amygdyla.
HP:0025445	Morphological abnormality of the papillary muscles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025445	Any structural anomaly of the papillary muscles of the left ventricle.
HP:0025446	Anomalous insertion of papillary muscle directly into anterior mitral leaflet	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025446	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025447	Abnormal location of the insertion of a papillary muscle into the left ventricular wall.
HP:0025448	Anterior displacement of the papillary muscles	biolink:PhenotypicFeature	hp			Anteriorly displaced papillary muscles	http://purl.obolibrary.org/obo/HP_0025448	Abnormally anterior location of the papillary muscles of the left ventricle.
HP:0025449	Apically displaced anterolateral papillary muscle	biolink:PhenotypicFeature	hp			Apically displaced papillary muscles	http://purl.obolibrary.org/obo/HP_0025449	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	biolink:PhenotypicFeature	hp			Testicular adrenal rest tumour	http://purl.obolibrary.org/obo/HP_0025451	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025452	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025453	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025454	Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.
HP:0025455	Decreased CSF 5-hydroxyindolacetic acid	biolink:PhenotypicFeature	hp			Decreased CSF 5-HIAA|Low CSF 5-HIAA|Low CSF 5-hydroxyindolacetic acid	http://purl.obolibrary.org/obo/HP_0025455	CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.
HP:0025456	Abnormal CSF protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025456	Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.
HP:0025457	Decreased CSF protein	biolink:PhenotypicFeature	hp			Low CSF total protein|Decreased cerebrospinal fluid total protein|Hypoproteinorrhachia	http://purl.obolibrary.org/obo/HP_0025457	CSF total protein level is below the lower limit of normal.
HP:0025458	Decreased CSF albumin concentration	biolink:PhenotypicFeature	hp			Low CSF albumin|CSF albumin level is below the lower limit of normal.	http://purl.obolibrary.org/obo/HP_0025458	
HP:0025459	Increased CSF/serum albumin ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025459	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	biolink:PhenotypicFeature	hp			High myo-inositol in brain by MRS	http://purl.obolibrary.org/obo/HP_0025460	An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0025461	Abnormal cell morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025461	Any anomaly of cell structure.
HP:0025462	obsolete Abnormal cellular physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025462	
HP:0025463	Abnormality of redox activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025463	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	biolink:PhenotypicFeature	hp			Increased ROS production|Oxidative stress	http://purl.obolibrary.org/obo/HP_0025464	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025465	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025466	Increased level of beta 2-microglobulins in the urine.
HP:0025469	Anagen effluvium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025469	An abnormal loss of anagen (growth phase) hairs.
HP:0025470	Telogen effluvium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025470	A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.
HP:0025471	Congenital panfollicular nevus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025471	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025472	A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.
HP:0025473	Hyperpigmented papule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025473	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	biolink:PhenotypicFeature	hp			Violaceous plaque	http://purl.obolibrary.org/obo/HP_0025474	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025475	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025476	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025477	Calcified deposits in soft tissue structures outside a joint.
HP:0025478	Atrial standstill	biolink:PhenotypicFeature	hp			Silent atrium	http://purl.obolibrary.org/obo/HP_0025478	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025479	Neglecting one's own needs and well-being.
HP:0025480	Lipomyelomeningocele	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025480	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025481	Absence of one half of the vertebral body in the cervical spine.
HP:0025482	Positive perchlorate discharge test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025482	An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025483	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025484	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025485	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025486	The outer labia are sealed together.
HP:0025487	Abnormality of bladder morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025487	Any structural anomaly of the bladder.
HP:0025488	Detrusor sphincter dyssynergia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025488	A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.
HP:0025489	Bladder duplication	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025489	A congenital anomaly characterized by the presence of two bladders.
HP:0025490	Myocardial bridging	biolink:PhenotypicFeature	hp			Intramyocardial coronary artery course	http://purl.obolibrary.org/obo/HP_0025490	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025491	Narrowing of a vein due to intimal hyperplasia and fibrosis.
HP:0025492	Microcoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025492	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025493	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025494	Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans
HP:0025495	Descending aorta hypoplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025495	Significant luminal narrowing of a long segment of the descending aorta.
HP:0025496	Abnormal coronary artery physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025496	Any anomaly of the function of a coronary artery.
HP:0025497	Coronary artery spasm	biolink:PhenotypicFeature	hp			Coronary artery vasospasm	http://purl.obolibrary.org/obo/HP_0025497	A brief and sudden narrowing of a coronary artery.
HP:0025498	Aceruloplasminemia	biolink:PhenotypicFeature	hp			Aceruloplasminaemia	http://purl.obolibrary.org/obo/HP_0025498	Absence of ceruloplasmin in the blood.
HP:0025499	Class I obesity	biolink:PhenotypicFeature	hp			Obesity grade 1	http://purl.obolibrary.org/obo/HP_0025499	Obesity with a body mass index of 30 to 34.9 kg per square meter.
HP:0025500	Class II obesity	biolink:PhenotypicFeature	hp			Obesity grade 2	http://purl.obolibrary.org/obo/HP_0025500	Obesity with a body mass index of 35 to 39.9 kg per square meter.
HP:0025501	Class III obesity	biolink:PhenotypicFeature	hp			Obesity grade 3	http://purl.obolibrary.org/obo/HP_0025501	Obesity with a body mass index of 40 kg per square meter or higher.
HP:0025502	Overweight	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025502	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025503	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025505	The circumflex coronary artery originates from the right aortic sinus of Valsalva.
HP:0025506	Coronary artery sandwich anomaly	biolink:PhenotypicFeature	hp			Anomalous coronary artery with aortic origin and course between the great arteries	http://purl.obolibrary.org/obo/HP_0025506	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	biolink:PhenotypicFeature	hp			Yellow-orange papule	http://purl.obolibrary.org/obo/HP_0025507	A papule with yellow color.
HP:0025508	Gottron's papules	biolink:PhenotypicFeature	hp			Gottron papules	http://purl.obolibrary.org/obo/HP_0025508	Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.
HP:0025509	Piezogenic pedal papules	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025509	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	biolink:PhenotypicFeature	hp			Speckled lentiginous Nevus	http://purl.obolibrary.org/obo/HP_0025510	A tan, regularly bordered patch with darker macules within the lesion.
HP:0025511	Nevus sebaceus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025511	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	biolink:PhenotypicFeature	hp			Flesh-colored papule	http://purl.obolibrary.org/obo/HP_0025512	A papule with the same color as the surrounding skin.
HP:0025513	Scleral rupture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025513	Breakage of the sclera.
HP:0025514	Morning glory anomaly	biolink:PhenotypicFeature	hp			Morning glory disc anomaly|Morning glory optic disc	http://purl.obolibrary.org/obo/HP_0025514	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025515	Later than normal development of the breasts.
HP:0025516	Coronary-pulmonary artery fistula	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025516	A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.
HP:0025517	Hypoplastic hippocampus	biolink:PhenotypicFeature	hp			Small hippocampus|Underdeveloped hippocampus	http://purl.obolibrary.org/obo/HP_0025517	Underdevelopment of the hippocampus.
HP:0025518	Visual gaze preference	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025518	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	biolink:PhenotypicFeature	hp			Multiple bile duct hamartomas|Von Meyenburg complexes|Biliary hamartoma	http://purl.obolibrary.org/obo/HP_0025519	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	biolink:PhenotypicFeature	hp			Cutaneous calcification	http://purl.obolibrary.org/obo/HP_0025520	Deposition of calcium in the skin.
HP:0025521	Increased body fat percentage	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025521	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025522	Abnormal increased in length of the chordae tendinae of the mitral valve.
HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025523	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	biolink:PhenotypicFeature	hp			Palmoplantar psoriasis	http://purl.obolibrary.org/obo/HP_0025524	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025525	Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.
HP:0025526	Psoriasiform lesion	biolink:PhenotypicFeature	hp			Psoriatic-like lesion|Erythemato-squamous plaque|Erythematosquamous plaque	http://purl.obolibrary.org/obo/HP_0025526	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	biolink:PhenotypicFeature	hp			Serpiginous eruption	http://purl.obolibrary.org/obo/HP_0025527	A skin lesion with a snake- or serpent-like distribution.
HP:0025528	Annular cutaneous lesion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025528	A lesion of the skin with a ring-like distribution.
HP:0025529	Hyperpigmented nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025529	A nodule of the skin that exhibits an increased amount of pigmentation.
HP:0025530	Xanthomas of the palmar creases	biolink:PhenotypicFeature	hp			Xanthoma palmare striatum|Xanthoma striatum palmare	http://purl.obolibrary.org/obo/HP_0025530	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025531	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025532	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025533	
HP:0025534	Ocular melanocytosis	biolink:PhenotypicFeature	hp			Melanosis oculi|Ocular melanosis	http://purl.obolibrary.org/obo/HP_0025534	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025535	Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.
HP:0025536	V-sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025536	Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.
HP:0025537	Plantar edema	biolink:PhenotypicFeature	hp			Plantar oedema	http://purl.obolibrary.org/obo/HP_0025537	An abnormal accumulation of fluid beneath the skin on sole of the foot.
HP:0025538	Palmar edema	biolink:PhenotypicFeature	hp			Palmar oedema	http://purl.obolibrary.org/obo/HP_0025538	An abnormal accumulation of fluid beneath the skin on the palm of the hand.
HP:0025539	Abnormal B cell subset distribution	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025539	
HP:0025540	Abnormal T cell subset distribution	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025540	Any abnormality in the proportion T cells subsets relative to the total number of T cells.
HP:0025541	obsolete Decreased activity of complement receptor	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025541	
HP:0025546	Abnormal mean corpuscular hemoglobin concentration	biolink:PhenotypicFeature	hp			Abnormal MCH|Abnormal MCHC|Abnormal mean corpuscular Hb concentration|Abnormal mean corpuscular haemoglobin|Abnormal mean corpuscular haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0025546	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	biolink:PhenotypicFeature	hp			Decreased MCH|Decreased MCHC|Decreased mean corpuscular Hb concentration|Decreased mean corpuscular haemoglobin|Decreased mean corpuscular haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0025547	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	biolink:PhenotypicFeature	hp			Increased MCH|Increased MCHC|Increased mean corpuscular Hb concentration|Increased mean corpuscular haemoglobin|Increased mean corpuscular haemoglobin concentration	http://purl.obolibrary.org/obo/HP_0025548	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	biolink:PhenotypicFeature	hp			Eccentric fixation	http://purl.obolibrary.org/obo/HP_0025549	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	biolink:PhenotypicFeature	hp			Increased level of ribitol in serum	http://purl.obolibrary.org/obo/HP_0025550	An increase above the normal concentration of ribitol in the blood.
HP:0025551	Optic nerve misrouting	biolink:PhenotypicFeature	hp			Optic pathway misrouting|Visual pathway misrouting	http://purl.obolibrary.org/obo/HP_0025551	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025552	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	biolink:PhenotypicFeature	hp			Raccoon eyes	http://purl.obolibrary.org/obo/HP_0025553	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025554	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025555	Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.
HP:0025558	Lamellar cataract with riders	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025558	Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.
HP:0025559	Coronary cataract	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025559	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025560	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+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025561	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+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025562	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025563	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+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025564	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+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025565	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+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025566	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025567	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025568	
HP:0025569	Polypoidal choroidal vasculopathy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025569	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	biolink:PhenotypicFeature	hp			Choroidal hyperpermeability	http://purl.obolibrary.org/obo/HP_0025570	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025571	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	biolink:PhenotypicFeature	hp			Lacrimal punctum stenosis|Stenosis of the lacrimal punctum	http://purl.obolibrary.org/obo/HP_0025572	Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.
HP:0025573	Mild myopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025573	A mild form of myopia with up to -3.00 diopters.
HP:0025574	Macular hemorrhage	biolink:PhenotypicFeature	hp			Macular haemorrhage|Bleeding occurring within the macula lutea of the retina.	http://purl.obolibrary.org/obo/HP_0025574	
HP:0025575	Abnormal superior vena cava morphology	biolink:PhenotypicFeature	hp	Fyler:2820			http://purl.obolibrary.org/obo/HP_0025575	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	biolink:PhenotypicFeature	hp	Fyler:2810			http://purl.obolibrary.org/obo/HP_0025576	Any structural anomaly of the principal vein draining blood from the lower portion of the body.
HP:0025578	Aortic valve prolapse	biolink:PhenotypicFeature	hp	Fyler:1452			http://purl.obolibrary.org/obo/HP_0025578	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	biolink:PhenotypicFeature	hp	Fyler:3010			http://purl.obolibrary.org/obo/HP_0025579	Any structural abnormality of the left atrium.
HP:0025580	Abnormal right atrium morphology	biolink:PhenotypicFeature	hp	Fyler:1770			http://purl.obolibrary.org/obo/HP_0025580	Any structural abnormality of the right atrium.
HP:0025581	Foveal hemorrhage	biolink:PhenotypicFeature	hp			Foveal haemorrhage	http://purl.obolibrary.org/obo/HP_0025581	Bleeding occurring within the fovea.
HP:0025582	Submacular hemorrhage	biolink:PhenotypicFeature	hp			Submacular haemorrhage|Sub-macular hemorrhage	http://purl.obolibrary.org/obo/HP_0025582	Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.
HP:0025583	Tapetal-like fundal reflex	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025583	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025584	A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.
HP:0025585	Hyperphoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025585	Tendency for the visual axis of one eye to be higher than that of the other.
HP:0025586	Hypertropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025586	A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
HP:0025587	Hyperdeviation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025587	A type of strabismus in which the visual axis of one eye is higher than that of the other.
HP:0025588	Hypodeviation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025588	A type of strabismus in which the visual axis of one eye is lower than that of the other.
HP:0025589	Cyclodeviation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025589	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025590	A functional anomaly of the muscles of the eye.
HP:0025591	Abnormal superior oblique muscle physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025591	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	biolink:PhenotypicFeature	hp			Superior oblique palsy	http://purl.obolibrary.org/obo/HP_0025592	Decreased strength of the superior oblique muscle.
HP:0025593	Superior oblique muscle restriction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025593	Mechanical limitation of the range of movement of the superior oblique muscle.
HP:0025594	Superior oblique muscle overaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025594	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	biolink:PhenotypicFeature	hp			Under-depression in adduction	http://purl.obolibrary.org/obo/HP_0025595	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025596	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025597	Mechanical limitation of the range of movement of the inferior oblique muscle.
HP:0025598	Inferior oblique muscle weakness	biolink:PhenotypicFeature	hp			Inferior oblique palsy	http://purl.obolibrary.org/obo/HP_0025598	Decreased strength of the inferior oblique muscle.
HP:0025599	Inferior oblique muscle overaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025599	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025600	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025601	Decreased strength of the inferior rectus muscle.
HP:0025602	Inferior rectus muscle restriction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025602	Mechanical limitation of the range of movement of the inferior rectus muscle.
HP:0025603	Abnormal superior rectus muscle physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025603	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025604	A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.
HP:0025605	Lid lag on downgaze	biolink:PhenotypicFeature	hp			Eyelid lag|Lid lag|von Graefe sign	http://purl.obolibrary.org/obo/HP_0025605	Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.
HP:0025606	Abnormal medial rectus muscle physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025606	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025607	An inward turning (inversion) of the margin of the upper eyelid.
HP:0025608	Cicatricial ectropion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025608	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025609	A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.
HP:0025610	Posterior blepharitis	biolink:PhenotypicFeature	hp			Meibomian gland dysfunction|Meibomian gland disease	http://purl.obolibrary.org/obo/HP_0025610	A type of blepharitis that affects the meibomian glands and meobomian 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025611	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025612	A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.
HP:0025613	Focal emotional seizure	biolink:PhenotypicFeature	hp			Affective seizure|Emotional seizure|Focal affective seizure|Partial emotional seizure	http://purl.obolibrary.org/obo/HP_0025613	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025615	
HP:0025616	Sterile abscess	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025616	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025617	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025618	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025619	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	biolink:PhenotypicFeature	hp			Abnormal proportion of central memory CD4+, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0025620	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:0025621	obsolete Increased proportion of CD4+ central memory cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025621	
HP:0025622	obsolete Decreased proportion of CD4+ central memory cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025622	
HP:0025623	Abnormal proportion of CD4+ effector memory cells	biolink:PhenotypicFeature	hp			Abnormal proportion of CD4-positive effector memory cells|Abnormal proportion of effector memory CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0025623	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	biolink:PhenotypicFeature	hp			Decreased proportion of CD4+ effector memory T cells|Decreased proportion of CD4-positive effector memory T cells|Decreased proportion of effector memory CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0025624	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	biolink:PhenotypicFeature	hp			Increased proportion of CD4+ effector memory T cells|Increased proportion of CD4-positive effector memory T cells|Increased proportion of effector CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0025625	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025626	An abnormally high concentration of oleic acid (oleate) in the blood circulation.
HP:0025627	Increased circulating octadecanoate level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025627	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025628	An abnormally high concentration of myristoleate in the blood circulation.
HP:0025629	Anti-myelin-associated glycoprotein antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025629	The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).
HP:0025630	Argininosuccinic aciduria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025630	Increased amount of argininosuccinate in the urine.
HP:0025631	Alpha-aminobutyric aciduria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025631	Increased amount of alpha-aminobutyric acid in the urine.
HP:0025632	Reduced reactive oxygen species production in neutrophils	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025632	
HP:0025633	Abnormal ureter morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025633	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025634	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	biolink:PhenotypicFeature	hp	NCIT:C4530		Polyp of the ureter|Ureter polyp	http://purl.obolibrary.org/obo/HP_0025635	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	biolink:PhenotypicFeature	hp			Endometrial inflammation.|Inflammation of the inner lining of the uterus	http://purl.obolibrary.org/obo/HP_0025636	Inflammation of the inner lining of the uterus (endometrium).
HP:0025637	Vasospasm	biolink:PhenotypicFeature	hp			Angiospasm|Blood vessel spasm|Vascular spasm	http://purl.obolibrary.org/obo/HP_0025637	Narrowing of an artery due to constriction of the blood vessels.
HP:0025638	Elevated urinary N-butyrylglycine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025638	An increased level of N-butyrylglycine in the urine.
HP:0025639	Increased urinary zinc level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025639	An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.
HP:0025640	Abnormal urinary mineral level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025640	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0025641	An abnormally increased concentration of glycolate in the blood circulation.
HP:0025643	Tarlov cyst	biolink:PhenotypicFeature	hp			Perineural cyst	http://purl.obolibrary.org/obo/HP_0025643	A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.
HP:0030000	EMG: repetitive nerve stimulation abnormality	biolink:PhenotypicFeature	hp	UMLS:C4022681			http://purl.obolibrary.org/obo/HP_0030000	Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.
HP:0030001	Lagopthalmos	biolink:PhenotypicFeature	hp	UMLS:C4022680		Eyelids stay open|Inability to close the eyelids	http://purl.obolibrary.org/obo/HP_0030001	A condition in which the eyelids do not close to cover the eye completely.
HP:0030002	Nocturnal lagophthalmos	biolink:PhenotypicFeature	hp	SNOMEDCT_US:417740005|UMLS:C1563118		Eyelids stay open at night|Inability to close the eyelids at night	http://purl.obolibrary.org/obo/HP_0030002	The inability to close the eyelids during sleep.
HP:0030003	Paralytic lagophthalmos	biolink:PhenotypicFeature	hp	SNOMEDCT_US:59890007|UMLS:C0155197			http://purl.obolibrary.org/obo/HP_0030003	A type of lagophthalmos that occurs in association with facial nerve palsy.
HP:0030004	Cicatricial lagophthalmos	biolink:PhenotypicFeature	hp	SNOMEDCT_US:9042000|UMLS:C0155199		Eyelids stay open due to scarring|Inability to close the eyelids due to scarring	http://purl.obolibrary.org/obo/HP_0030004	A type of lagophthalmos that occurs following trauma or surgery.
HP:0030005	Capillary leak	biolink:PhenotypicFeature	hp	MSH:D019559|SNOMEDCT_US:1608005|SNOMEDCT_US:87730004|UMLS:C0343084|UMLS:C1382398		Increased capillary permeability|Systemic capillary leak syndrome	http://purl.obolibrary.org/obo/HP_0030005	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	biolink:PhenotypicFeature	hp	UMLS:C4022679		Single fibre EMG abnormality	http://purl.obolibrary.org/obo/HP_0030006	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:251527008|UMLS:C0429349			http://purl.obolibrary.org/obo/HP_0030007	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37687000|UMLS:C0266404		Absent cervix|Aplasia of the cervix|Cervical aplasia	http://purl.obolibrary.org/obo/HP_0030008	Congenital absence of the cervix.
HP:0030009	Cervical insufficiency	biolink:PhenotypicFeature	hp	MSH:D002581|SNOMEDCT_US:17382005|UMLS:C0007871		Incompetent cervix	http://purl.obolibrary.org/obo/HP_0030009	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60023006|UMLS:C0269209			http://purl.obolibrary.org/obo/HP_0030010	Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
HP:0030011	Imperforate hymen	biolink:PhenotypicFeature	hp	MSH:C562397|SNOMEDCT_US:65937002|UMLS:C0152436			http://purl.obolibrary.org/obo/HP_0030011	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	biolink:PhenotypicFeature	hp	UMLS:C4020714|UMLS:C4022678		Abnormal female reproductive system physiology|Abnormal female genital system physiology	http://purl.obolibrary.org/obo/HP_0030012	
HP:0030013	obsolete Endometriosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030013	
HP:0030014	Female sexual dysfunction	biolink:PhenotypicFeature	hp	UMLS:C1112442			http://purl.obolibrary.org/obo/HP_0030014	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60103007|UMLS:C0033948|UMLS:C4022677		Female orgasmic disorder	http://purl.obolibrary.org/obo/HP_0030015	The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.
HP:0030016	Dyspareunia	biolink:PhenotypicFeature	hp	MSH:D004414|SNOMEDCT_US:71315007|UMLS:C1384606			http://purl.obolibrary.org/obo/HP_0030016	Recurrent or persistent genital pain associated with sexual intercourse.
HP:0030017	Vaginismus	biolink:PhenotypicFeature	hp	MSH:D052065|SNOMEDCT_US:79012001|UMLS:C2004487		Myalgia of pelvic floor|Pelvic floor myalgia	http://purl.obolibrary.org/obo/HP_0030017	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	biolink:PhenotypicFeature	hp	UMLS:C4022676		Decreased female sex drive	http://purl.obolibrary.org/obo/HP_0030018	Dminished sexual desire in female.
HP:0030019	Increased female libido	biolink:PhenotypicFeature	hp	UMLS:C4022675		Increased female sex drive	http://purl.obolibrary.org/obo/HP_0030019	Elevated sexual desire in female
HP:0030021	Auricular tag	biolink:PhenotypicFeature	hp	UMLS:C4022674			http://purl.obolibrary.org/obo/HP_0030021	Small protrusion within the pinna.
HP:0030022	Question mark ear	biolink:PhenotypicFeature	hp	UMLS:C3888103		Question mark ear|Question mark ears|Constricted ear|Cosman ear	http://purl.obolibrary.org/obo/HP_0030022	Cleft between the helix and the lobe.
HP:0030023	Quelprud nodule	biolink:PhenotypicFeature	hp	UMLS:C4022673			http://purl.obolibrary.org/obo/HP_0030023	Small cartilaginous prominence on the posterior concha.
HP:0030024	Pretragal ectopia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204245004|UMLS:C0266609		Extra cartilage in front of the ear|Accessory Tragus|Pretragal Duplication	http://purl.obolibrary.org/obo/HP_0030024	Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.
HP:0030025	Auricular pit	biolink:PhenotypicFeature	hp	UMLS:C4022672			http://purl.obolibrary.org/obo/HP_0030025	Small indentation in the lower part of the ascending helix, concha, or in the crus helix.
HP:0030026	Squared superior portion of helix	biolink:PhenotypicFeature	hp	UMLS:C4022671			http://purl.obolibrary.org/obo/HP_0030026	Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.
HP:0030027	Abnormality of the nasal cartilage	biolink:PhenotypicFeature	hp	UMLS:C4022670		Abnormality of cartilage of nose|Abnormality of the nasal cartilage|Deformity of cartilage of nose|Deformity of nasal cartilage|Malformation of cartilage of nose|Malformation of nasal cartilage|Anomaly of cartilage of nose|Anomaly of nasal cartilage	http://purl.obolibrary.org/obo/HP_0030027	A morphological anomaly of the nasal cartilage.
HP:0030028	Absent nasal cartilage	biolink:PhenotypicFeature	hp	MSH:C562753|SNOMEDCT_US:232381002|UMLS:C4022669|UMLS:C4082198		Absent cartilage of nose|Absent nasal cartilage|Failure of development of cartilage of nose|Failure of development of nasal cartilage|Missing cartilage of nose|Missing nasal cartilage|Agenesis of cartilage of nose|Agenesis of nasal cartilage	http://purl.obolibrary.org/obo/HP_0030028	Lack of a palpable nasal cartilage.
HP:0030029	Splayed fingers	biolink:PhenotypicFeature	hp	UMLS:C4021057		Splayed fingers|Spreading of the fingers	http://purl.obolibrary.org/obo/HP_0030029	Divergence of digits along the A/P axis (in the plane of the palm).
HP:0030030	Absent ray	biolink:PhenotypicFeature	hp	UMLS:C4022668			http://purl.obolibrary.org/obo/HP_0030030	The absence of all phalanges of a digit and the associated metacarpal /metatarsal.
HP:0030031	Small toe	biolink:PhenotypicFeature	hp	UMLS:C4022667		Small toe	http://purl.obolibrary.org/obo/HP_0030031	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	biolink:PhenotypicFeature	hp	UMLS:C4022666		Partial absence of foot	http://purl.obolibrary.org/obo/HP_0030032	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299058009|UMLS:C0575827		Small finger	http://purl.obolibrary.org/obo/HP_0030033	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	biolink:PhenotypicFeature	hp	UMLS:C3278307		Lamellated/basket-woven thickened glomerular basement membranes|Lamellation of the glomerular basement membrane	http://purl.obolibrary.org/obo/HP_0030034	Presence of abnormal additional layers of the basement membrane of the glomerulus.
HP:0030035	Struvite nephrolithiasis	biolink:PhenotypicFeature	hp	UMLS:C4021056		Struvite kidney stones	http://purl.obolibrary.org/obo/HP_0030035	Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).
HP:0030036	Isothenuria	biolink:PhenotypicFeature	hp	UMLS:C4022665			http://purl.obolibrary.org/obo/HP_0030036	Inability of the kidneys to produce either concentrated or dilute urine.
HP:0030037	Bifid ureter	biolink:PhenotypicFeature	hp	UMLS:C3887498			http://purl.obolibrary.org/obo/HP_0030037	Incomplete duplication of the ureter.
HP:0030038	Enchondroma	biolink:PhenotypicFeature	hp	MSH:D002812|SNOMEDCT_US:31186001|SNOMEDCT_US:423699002|UMLS:C1704356			http://purl.obolibrary.org/obo/HP_0030038	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	biolink:PhenotypicFeature	hp	UMLS:C4022664			http://purl.obolibrary.org/obo/HP_0030039	A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.
HP:0030040	Fused lumbar vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4022663			http://purl.obolibrary.org/obo/HP_0030040	A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.
HP:0030041	Schmorl's node	biolink:PhenotypicFeature	hp	SNOMEDCT_US:45181002|UMLS:C0410632		Schmorl's nodes	http://purl.obolibrary.org/obo/HP_0030041	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:373940002|UMLS:C0685678		Incomplete maturation of the pubic bone	http://purl.obolibrary.org/obo/HP_0030042	Failure to complete ossification (maturation and calcification) of the pubic bone.
HP:0030043	Hip subluxation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:263057000|UMLS:C0434785		Partial hip dislocation|Subluxation involving the hip joint	http://purl.obolibrary.org/obo/HP_0030043	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	biolink:PhenotypicFeature	hp	UMLS:C1839864			http://purl.obolibrary.org/obo/HP_0030044	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	biolink:PhenotypicFeature	hp	UMLS:C3805325		S-shaped calf bone	http://purl.obolibrary.org/obo/HP_0030045	Elongated curved (S-shaped) fibulae.
HP:0030046	Hypoglycosylation of alpha-dystroglycan	biolink:PhenotypicFeature	hp	UMLS:C4015098			http://purl.obolibrary.org/obo/HP_0030046	A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.
HP:0030047	Abnormality of lateral ventricle	biolink:PhenotypicFeature	hp	UMLS:C4022662			http://purl.obolibrary.org/obo/HP_0030047	A morphological anomaly of the lateral ventricle.
HP:0030048	Colpocephaly	biolink:PhenotypicFeature	hp	MSH:C535973|SNOMEDCT_US:253160006|UMLS:C0431384			http://purl.obolibrary.org/obo/HP_0030048	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	biolink:PhenotypicFeature	hp	MSH:D001922|SNOMEDCT_US:441806004|UMLS:C0006105		Brain abscess	http://purl.obolibrary.org/obo/HP_0030049	A collection of pus, immune cells, and other material in the brain.
HP:0030050	Narcolepsy	biolink:PhenotypicFeature	hp	MSH:D009290|SNOMEDCT_US:60380001|UMLS:C0027404			http://purl.obolibrary.org/obo/HP_0030050	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	biolink:PhenotypicFeature	hp	UMLS:C1843570		Walking on tiptoes	http://purl.obolibrary.org/obo/HP_0030051	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	biolink:PhenotypicFeature	hp	UMLS:C1834297		Freckles in groin region	http://purl.obolibrary.org/obo/HP_0030052	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	biolink:PhenotypicFeature	hp	UMLS:C3276815		Stiff skin|Indurated skin	http://purl.obolibrary.org/obo/HP_0030053	An induration (hardening) of the skin
HP:0030054	Perifollicular fibrosis	biolink:PhenotypicFeature	hp	UMLS:C2748531			http://purl.obolibrary.org/obo/HP_0030054	Presence of excess fibrous connective tissue surrounding hair follicules.
HP:0030055	Hyperconvex toenail	biolink:PhenotypicFeature	hp	UMLS:C4022661			http://purl.obolibrary.org/obo/HP_0030055	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	biolink:PhenotypicFeature	hp	UMLS:C1860607		Uncombable hair	http://purl.obolibrary.org/obo/HP_0030056	Hair that is disorderly, stands out from the scalp, and cannot be combed flat.
HP:0030057	Autoimmune antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4022660			http://purl.obolibrary.org/obo/HP_0030057	The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
HP:0030058	Sickled erythrocytes	biolink:PhenotypicFeature	hp	UMLS:C2237347			http://purl.obolibrary.org/obo/HP_0030058	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	biolink:PhenotypicFeature	hp	UMLS:C4022659			http://purl.obolibrary.org/obo/HP_0030059	An abnormal reduction in mitochondrial DNA content of cells.
HP:0030060	Nervous tissue neoplasm	biolink:PhenotypicFeature	hp	MSH:D009380|UMLS:C0027665			http://purl.obolibrary.org/obo/HP_0030060	A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).
HP:0030061	Neuroectodermal neoplasm	biolink:PhenotypicFeature	hp	MSH:D017599|SNOMEDCT_US:253096008|SNOMEDCT_US:73676002|UMLS:C0206093			http://purl.obolibrary.org/obo/HP_0030061	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	biolink:PhenotypicFeature	hp	MSH:D003397|SNOMEDCT_US:189179009|SNOMEDCT_US:40009002|UMLS:C0010276			http://purl.obolibrary.org/obo/HP_0030062	A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system.
HP:0030063	Neuroepithelial neoplasm	biolink:PhenotypicFeature	hp	MSH:D018302|UMLS:C0206715			http://purl.obolibrary.org/obo/HP_0030063	A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.
HP:0030064	Neurocytoma	biolink:PhenotypicFeature	hp	MSH:D018306|SNOMEDCT_US:128858006|UMLS:C1622510			http://purl.obolibrary.org/obo/HP_0030064	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	biolink:PhenotypicFeature	hp	MSH:D018242|SNOMEDCT_US:39781001|SNOMEDCT_US:55045006|SNOMEDCT_US:699028006|UMLS:C0206663		Primitive neuroectodermal tumour	http://purl.obolibrary.org/obo/HP_0030065	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	biolink:PhenotypicFeature	hp	MSH:D018242|SNOMEDCT_US:21589007|SNOMEDCT_US:715901002|UMLS:C0700367			http://purl.obolibrary.org/obo/HP_0030066	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	biolink:PhenotypicFeature	hp	MSH:D018241|SNOMEDCT_US:253096008|SNOMEDCT_US:703707001|SNOMEDCT_US:73676002|UMLS:C0684337			http://purl.obolibrary.org/obo/HP_0030067	A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.
HP:0030068	Olfactory esthesioneuroblastoma	biolink:PhenotypicFeature	hp	MSH:D018304|SNOMEDCT_US:422886007|SNOMEDCT_US:68614005|SNOMEDCT_US:76060004|UMLS:C0206717			http://purl.obolibrary.org/obo/HP_0030068	A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.
HP:0030069	Primary central nervous system lymphoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21964009|SNOMEDCT_US:307649006|UMLS:C0280803		Primary CNS lymphoma	http://purl.obolibrary.org/obo/HP_0030069	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39781001|UMLS:C3887678		Central primitive neuroectodermal tumour	http://purl.obolibrary.org/obo/HP_0030070	A primitive neuroectodermal neoplasm that occurs in the central nervous system.
HP:0030071	Medulloepithelioma	biolink:PhenotypicFeature	hp	MSH:D018242|SNOMEDCT_US:39005004|SNOMEDCT_US:715903004|UMLS:C0334596			http://purl.obolibrary.org/obo/HP_0030071	A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.
HP:0030072	Paranasal sinus neoplasm	biolink:PhenotypicFeature	hp	MSH:D010255|NCIT:C3262|SNOMEDCT_US:126675008|UMLS:C0030470		Neoplasm of the paranasal sinuses|Tumor of the paranasal sinuses	http://purl.obolibrary.org/obo/HP_0030072	A tumor that originates in the paranasal sinus.
HP:0030073	obsolete Pharyngeal neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030073	
HP:0030074	Chemodectoma	biolink:PhenotypicFeature	hp	MSH:D002345|SNOMEDCT_US:127028003|SNOMEDCT_US:30699005|UMLS:C0007279		Chemodectomas	http://purl.obolibrary.org/obo/HP_0030074	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	biolink:PhenotypicFeature	hp	MSH:D002285|SNOMEDCT_US:109889007|SNOMEDCT_US:278053004|SNOMEDCT_US:373176000|SNOMEDCT_US:86616005|UMLS:C0007124			http://purl.obolibrary.org/obo/HP_0030075	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	biolink:PhenotypicFeature	hp	MSH:D000071960|SNOMEDCT_US:109888004|UMLS:C0279563			http://purl.obolibrary.org/obo/HP_0030076	
HP:0030077	Bronchial neoplasm	biolink:PhenotypicFeature	hp	MSH:D001984|NCIT:C3262|SNOMEDCT_US:126705004|UMLS:C0006264			http://purl.obolibrary.org/obo/HP_0030077	A tumor originating in a bronchus.
HP:0030078	Lung adenocarcinoma	biolink:PhenotypicFeature	hp	MSH:C538231|NCIT:C2852|SNOMEDCT_US:254626006|UMLS:C0152013			http://purl.obolibrary.org/obo/HP_0030078	
HP:0030079	Cervix cancer	biolink:PhenotypicFeature	hp	MSH:D002583|NCIT:C3262|SNOMEDCT_US:363354003|UMLS:C4048328			http://purl.obolibrary.org/obo/HP_0030079	A tumor of the uterine cervix.
HP:0030080	Burkitt lymphoma	biolink:PhenotypicFeature	hp	MSH:D002051|SNOMEDCT_US:118617000|SNOMEDCT_US:22197008|SNOMEDCT_US:277571004|SNOMEDCT_US:397400006|SNOMEDCT_US:77381001|UMLS:C0006413			http://purl.obolibrary.org/obo/HP_0030080	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	biolink:PhenotypicFeature	hp	UMLS:C4022658			http://purl.obolibrary.org/obo/HP_0030081	Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.
HP:0030082	Abnormal drinking behavior	biolink:PhenotypicFeature	hp	UMLS:C4022657		Abnormal drinking behavior|Abnormal drinking behaviour	http://purl.obolibrary.org/obo/HP_0030082	Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
HP:0030083	Salt craving	biolink:PhenotypicFeature	hp	UMLS:C0240928		Salt craving	http://purl.obolibrary.org/obo/HP_0030083	An excessive desire to eat salt (sodium chloride) or salty foods.
HP:0030084	Clinodactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280304		Curvature of digit|Permanent curving of the finger	http://purl.obolibrary.org/obo/HP_0030084	An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
HP:0030085	Abnormal CSF lactate level	biolink:PhenotypicFeature	hp	UMLS:C4022656			http://purl.obolibrary.org/obo/HP_0030085	Abnormal concentration of lactate in the cerebrospinal fluid.
HP:0030086	Reduced CSF lactate	biolink:PhenotypicFeature	hp	UMLS:C4022655		Hypolactatorachia	http://purl.obolibrary.org/obo/HP_0030086	Decreased concentration of lactate in the cerebrospinal fluid.
HP:0030087	Abnormal serum testosterone level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:166458009|UMLS:C0580454|UMLS:C4022654		Abnormal testosterone level	http://purl.obolibrary.org/obo/HP_0030087	An anomalous concentration of testosterone in the blood.
HP:0030088	Increased serum testosterone level	biolink:PhenotypicFeature	hp	UMLS:C0241358|UMLS:C4072885		Increased testosterone|High serum testosterone level|High serum testosterone levels|Increased serum testosterone levels	http://purl.obolibrary.org/obo/HP_0030088	An elevated circulating testosterone level in the blood.
HP:0030089	Abnormal muscle fiber protein expression	biolink:PhenotypicFeature	hp	UMLS:C4022653		Abnormal muscle fibre protein expression	http://purl.obolibrary.org/obo/HP_0030089	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	biolink:PhenotypicFeature	hp	UMLS:C4022652		Abnormal muscle fibre merosin expression	http://purl.obolibrary.org/obo/HP_0030090	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	biolink:PhenotypicFeature	hp	UMLS:C4021055		Absent muscle fibre merosin|Absent merosin staining in muscle biopsy|Absent muscle fiber laminin alpha 2	http://purl.obolibrary.org/obo/HP_0030091	Lack of merosin protein in the muscle biopsy.
HP:0030092	Reduced muscle fiber merosin	biolink:PhenotypicFeature	hp	UMLS:C4022651		Reduced muscle fibre merosin	http://purl.obolibrary.org/obo/HP_0030092	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	biolink:PhenotypicFeature	hp	UMLS:C4022650		Abnormal muscle fibre laminin beta 1	http://purl.obolibrary.org/obo/HP_0030093	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	biolink:PhenotypicFeature	hp	UMLS:C4022649		Reduced muscle fibre laminin beta 1	http://purl.obolibrary.org/obo/HP_0030094	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	biolink:PhenotypicFeature	hp	UMLS:C4021054		Reduced collagen 6 in muscle	http://purl.obolibrary.org/obo/HP_0030095	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	biolink:PhenotypicFeature	hp	UMLS:C4022648		Abnormal muscle fibre dystrophin expression	http://purl.obolibrary.org/obo/HP_0030096	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	biolink:PhenotypicFeature	hp	UMLS:C4022647			http://purl.obolibrary.org/obo/HP_0030097	Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.
HP:0030098	Reduced muscle dystrophin expression	biolink:PhenotypicFeature	hp	UMLS:C4021053		Reduced dystrophin staining in muscle	http://purl.obolibrary.org/obo/HP_0030098	A decreased amount of dystrophin in muscle fiber tissue.
HP:0030099	Reduced muscle fiber alpha dystroglycan	biolink:PhenotypicFeature	hp	UMLS:C4022646		Reduced muscle fibre alpha dystroglycan	http://purl.obolibrary.org/obo/HP_0030099	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	biolink:PhenotypicFeature	hp	UMLS:C4022645		Abnormal muscle fibre alpha sarcoglycan	http://purl.obolibrary.org/obo/HP_0030100	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	biolink:PhenotypicFeature	hp	UMLS:C4022644		Absent muscle fibre alpha sarcoglycan	http://purl.obolibrary.org/obo/HP_0030101	Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.
HP:0030102	Reduced muscle fiber alpha sarcoglycan	biolink:PhenotypicFeature	hp	UMLS:C4022643		Reduced muscle fibre alpha sarcoglycan	http://purl.obolibrary.org/obo/HP_0030102	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	biolink:PhenotypicFeature	hp	UMLS:C4022642		Abnormal muscle fibre beta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030103	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	biolink:PhenotypicFeature	hp	UMLS:C4022641		Abnormal muscle fibre gamma sarcoglycan	http://purl.obolibrary.org/obo/HP_0030104	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	biolink:PhenotypicFeature	hp	UMLS:C4022640		Abnormal muscle fibre delta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030105	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	biolink:PhenotypicFeature	hp	UMLS:C4022639		Absent muscle fibre beta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030106	Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.
HP:0030107	Reduced muscle fiber beta sarcoglycan	biolink:PhenotypicFeature	hp	UMLS:C4022638		Reduced muscle fibre beta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030107	Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.
HP:0030108	Reduced muscle fiber gamma sarcoglycan	biolink:PhenotypicFeature	hp	UMLS:C4022637		Reduced muscle fibre gamma sarcoglycan	http://purl.obolibrary.org/obo/HP_0030108	Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.
HP:0030109	Absent muscle fiber gamma sarcoglycan	biolink:PhenotypicFeature	hp	UMLS:C4022636		Absent muscle fibre gamma sarcoglycan	http://purl.obolibrary.org/obo/HP_0030109	Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.
HP:0030110	Absent muscle fiber delta sarcoglycan	biolink:PhenotypicFeature	hp	UMLS:C4022635		Absent muscle fibre delta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030110	Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.
HP:0030111	Reduced muscle fiber delta sarcoglycan	biolink:PhenotypicFeature	hp	UMLS:C4022634		Reduced muscle fibre delta sarcoglycan	http://purl.obolibrary.org/obo/HP_0030111	Abnormally reduced amount of delta sarcoglycan in muscle.
HP:0030112	Abnormal muscle fiber alpha dystroglycan	biolink:PhenotypicFeature	hp	UMLS:C4022633		Abnormal muscle fibre alpha dystroglycan	http://purl.obolibrary.org/obo/HP_0030112	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	biolink:PhenotypicFeature	hp	UMLS:C4022632		Abnormal muscle fibre dysferlin	http://purl.obolibrary.org/obo/HP_0030113	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	biolink:PhenotypicFeature	hp	UMLS:C4022631		Absent muscle fibre dysferlin	http://purl.obolibrary.org/obo/HP_0030114	Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.
HP:0030115	Reduced muscle fiber dysferlin	biolink:PhenotypicFeature	hp	UMLS:C4022630		Reduced muscle fibre dysferlin	http://purl.obolibrary.org/obo/HP_0030115	Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.
HP:0030116	Abnormal muscle fiber emerin	biolink:PhenotypicFeature	hp	UMLS:C4022629		Abnormal muscle fibre emerin	http://purl.obolibrary.org/obo/HP_0030116	A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.
HP:0030117	Absent muscle fiber emerin	biolink:PhenotypicFeature	hp	UMLS:C4022628		Absent muscle fibre emerin	http://purl.obolibrary.org/obo/HP_0030117	Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.
HP:0030118	Reduced muscle fiber emerin	biolink:PhenotypicFeature	hp	UMLS:C4022627		Reduced muscle fibre emerin	http://purl.obolibrary.org/obo/HP_0030118	Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.
HP:0030119	Abnormal muscle fiber calpain-3	biolink:PhenotypicFeature	hp	UMLS:C4022626		Abnormal muscle fibre calpain-3	http://purl.obolibrary.org/obo/HP_0030119	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	biolink:PhenotypicFeature	hp	UMLS:C4022625		Absent muscle fibre calpain-3	http://purl.obolibrary.org/obo/HP_0030120	Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.
HP:0030121	Reduced muscle fiber calpain-3	biolink:PhenotypicFeature	hp	UMLS:C4022624		Reduced muscle fibre calpain-3	http://purl.obolibrary.org/obo/HP_0030121	Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.
HP:0030122	Reduced muscle fiber perlecan	biolink:PhenotypicFeature	hp	UMLS:C4022623		Reduced muscle fibre perlecan	http://purl.obolibrary.org/obo/HP_0030122	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	biolink:PhenotypicFeature	hp	UMLS:C4022622		Abnormal muscle fibre lamin A/C	http://purl.obolibrary.org/obo/HP_0030123	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	biolink:PhenotypicFeature	hp	UMLS:C4022621		Reduced muscle fibre lamin A/C	http://purl.obolibrary.org/obo/HP_0030124	A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.
HP:0030125	Sacralization of the fifth lumbar vertebra	biolink:PhenotypicFeature	hp	UMLS:C4021052		L5 sacralization	http://purl.obolibrary.org/obo/HP_0030125	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	Abnormality of the endometrium	biolink:PhenotypicFeature	hp	UMLS:C4022620			http://purl.obolibrary.org/obo/HP_0030126	An anomaly of the inner mucous membrane of the uterus.
HP:0030127	Endometriosis	biolink:PhenotypicFeature	hp	MSH:D004715|SNOMEDCT_US:129103003|SNOMEDCT_US:396224008|UMLS:C0014175			http://purl.obolibrary.org/obo/HP_0030127	The growth of endometrial tissue outside the uterus.
HP:0030129	Impaired ristocetin cofactor assay activity	biolink:PhenotypicFeature	hp	UMLS:C4022619			http://purl.obolibrary.org/obo/HP_0030129	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 Willibrand factor collagen binding activity	biolink:PhenotypicFeature	hp	UMLS:C4022618			http://purl.obolibrary.org/obo/HP_0030130	Reduced ability of von Willibrand 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	biolink:PhenotypicFeature	hp	UMLS:C4022617			http://purl.obolibrary.org/obo/HP_0030131	Deviation from the normal von Willebrand factor multimer pattern.
HP:0030132	Absence of large von Willibrand factor multimers	biolink:PhenotypicFeature	hp	UMLS:C4022616			http://purl.obolibrary.org/obo/HP_0030132	Absence of large von Willebrand Factor multimers on gel electrophoresis.
HP:0030133	Abnormal presence of ultra-large von Willebrand factor multimers	biolink:PhenotypicFeature	hp	UMLS:C4022615			http://purl.obolibrary.org/obo/HP_0030133	Detection of abnormal ultra-large von Willebrand factor multimers.
HP:0030134	Total absence von Willebrand factor multimers	biolink:PhenotypicFeature	hp	UMLS:C4022614			http://purl.obolibrary.org/obo/HP_0030134	Complete absence of all von Willebrand factor multimers.
HP:0030135	Absence of intermediate von Willibrand factor multimers	biolink:PhenotypicFeature	hp	UMLS:C4022613			http://purl.obolibrary.org/obo/HP_0030135	Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.
HP:0030136	Enhanced ristocetin cofactor assay activity	biolink:PhenotypicFeature	hp	UMLS:C4022612			http://purl.obolibrary.org/obo/HP_0030136	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	biolink:PhenotypicFeature	hp	UMLS:C4022611		Prolonged bleeding following circumcision	http://purl.obolibrary.org/obo/HP_0030137	Bleeding that persists for a longer than usual time following circumcision.
HP:0030138	Excessive bleeding from superficial cuts	biolink:PhenotypicFeature	hp	UMLS:C4022610		Excessive bleeding from superficial cuts	http://purl.obolibrary.org/obo/HP_0030138	An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.
HP:0030139	Excessive bleeding after a venipuncture	biolink:PhenotypicFeature	hp	UMLS:C4022609			http://purl.obolibrary.org/obo/HP_0030139	An abnormal high amount of bleeding following the procedure of taking a blood sample.
HP:0030140	Oral cavity bleeding	biolink:PhenotypicFeature	hp	UMLS:C4022608		Bleeding from mouth|Oral cavity bleeding|Oral cavity hemorrhage	http://purl.obolibrary.org/obo/HP_0030140	Recurrent or excessive bleeding from the mouth.
HP:0030141	Abnormality of the posterior hairline	biolink:PhenotypicFeature	hp	UMLS:C4022607		Abnormality of hairline at back of head	http://purl.obolibrary.org/obo/HP_0030141	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60612008|UMLS:C0159060		Abnormal bowel sounds	http://purl.obolibrary.org/obo/HP_0030142	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18101008|UMLS:C0232694		Increased bowel sounds	http://purl.obolibrary.org/obo/HP_0030143	An increased amount of bowel sounds.
HP:0030144	Hypoactive bowel sounds	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15280003|UMLS:C0232695		Decreased bowel sounds	http://purl.obolibrary.org/obo/HP_0030144	An decreased amount of bowel sounds.
HP:0030145	Lack of bowel sounds	biolink:PhenotypicFeature	hp	UMLS:C4022606		Lack of bowel sounds	http://purl.obolibrary.org/obo/HP_0030145	Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.
HP:0030146	Abnormal liver parenchyma morphology	biolink:PhenotypicFeature	hp	UMLS:C4022605			http://purl.obolibrary.org/obo/HP_0030146	A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.
HP:0030147	Truncal titubation	biolink:PhenotypicFeature	hp	UMLS:C2674512			http://purl.obolibrary.org/obo/HP_0030147	Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.
HP:0030148	Heart murmur	biolink:PhenotypicFeature	hp	MSH:D006337|SNOMEDCT_US:414786004|SNOMEDCT_US:421493004|SNOMEDCT_US:88610006|UMLS:C0018808		Heart murmur|Heart murmurs|Cardiac murmur|Cardiac murmurs	http://purl.obolibrary.org/obo/HP_0030148	An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.
HP:0030149	Cardiogenic shock	biolink:PhenotypicFeature	hp	MSH:D012770|SNOMEDCT_US:89138009|UMLS:C0036980		Cardiovascular shock	http://purl.obolibrary.org/obo/HP_0030149	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	biolink:PhenotypicFeature	hp	UMLS:C0549295			http://purl.obolibrary.org/obo/HP_0030150	An abnormally increased number of plasma cells in tissues, exudates, or blood
HP:0030151	Cholangitis	biolink:PhenotypicFeature	hp	MSH:D002761|SNOMEDCT_US:82403002|UMLS:C0008311		Bile duct inflammation	http://purl.obolibrary.org/obo/HP_0030151	Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
HP:0030152	obsolete Biliary tract neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030152	
HP:0030153	Cholangiocarcinoma	biolink:PhenotypicFeature	hp	MSH:D018281|NCIT:C3262|SNOMEDCT_US:312104005|SNOMEDCT_US:70179006|UMLS:C0206698		Bile duct cancer	http://purl.obolibrary.org/obo/HP_0030153	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25345001|UMLS:C0156215		Gall bladder perforation	http://purl.obolibrary.org/obo/HP_0030154	Rupture of the wall of the gallbladder.
HP:0030155	Scrotal pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:20502007|UMLS:C0236078		Scrotal pain	http://purl.obolibrary.org/obo/HP_0030155	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.
HP:0030156	Bence Jones Proteinuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274771005|UMLS:C0004968			http://purl.obolibrary.org/obo/HP_0030156	The presence of free monoclonal immunoglobulin light chains in the urine.
HP:0030157	Flank pain	biolink:PhenotypicFeature	hp	MSH:D021501|SNOMEDCT_US:247355005|UMLS:C0016199		Kidney pain|Flank pain	http://purl.obolibrary.org/obo/HP_0030157	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.
HP:0030158	Cervical ectropion	biolink:PhenotypicFeature	hp	MSH:D002579|SNOMEDCT_US:61253004|SNOMEDCT_US:79342006|UMLS:C0007869|UMLS:C0269189		Cervical ectopy|Cervical erosion	http://purl.obolibrary.org/obo/HP_0030158	Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu
HP:0030159	Cervical polyp	biolink:PhenotypicFeature	hp	MSH:D002583|SNOMEDCT_US:123841004|SNOMEDCT_US:65576009|UMLS:C0007855|UMLS:C0007873		Cervical tumor	http://purl.obolibrary.org/obo/HP_0030159	Abnormal growth of tissue projecting from a mucous membrane of the endocervix.
HP:0030160	Cervicitis	biolink:PhenotypicFeature	hp	MSH:D002575|SNOMEDCT_US:37610005|UMLS:C0007860		Uterine cervix inflammation|Uterine cervicitis	http://purl.obolibrary.org/obo/HP_0030160	Inflammation of the uterine cervix.
HP:0030161	Vaginal pruritus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34363003|UMLS:C0042256			http://purl.obolibrary.org/obo/HP_0030161	A sensation of itching in the vagina.
HP:0030162	Glomerulomegaly	biolink:PhenotypicFeature	hp	UMLS:C4022604			http://purl.obolibrary.org/obo/HP_0030162	Abnormally large size of glomeruli.
HP:0030163	Abnormal vascular physiology	biolink:PhenotypicFeature	hp	UMLS:C4022603			http://purl.obolibrary.org/obo/HP_0030163	Abnormality of vascular function.
HP:0030164	Jaw claudication	biolink:PhenotypicFeature	hp	SNOMEDCT_US:43922008|UMLS:C0239064		Jaw pain while chewing	http://purl.obolibrary.org/obo/HP_0030164	Pain in the jaw or ear induced by chewing or otherwise moving the jaw.
HP:0030165	Temporal artery tortuosity	biolink:PhenotypicFeature	hp	UMLS:C4022602			http://purl.obolibrary.org/obo/HP_0030165	The presence of an increased number of twists and turns of the temporal artery.
HP:0030166	Night sweats	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42984000|UMLS:C0028081		Night sweats|Nocturnal hyperhidrosis	http://purl.obolibrary.org/obo/HP_0030166	Occurence of excessive sweating during sleep.
HP:0030167	Antimitochondrial antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4021051		Serum antimitochrondrial antibodies	http://purl.obolibrary.org/obo/HP_0030167	The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.
HP:0030168	Dilated superficial abdominal veins	biolink:PhenotypicFeature	hp	UMLS:C4021050		Dilatation of the superficial abdominal veins	http://purl.obolibrary.org/obo/HP_0030168	Increase in diameter of the veins located underneath the skin of the abdomen.
HP:0030169	Gastric varix	biolink:PhenotypicFeature	hp	MSH:D004932|SNOMEDCT_US:91109007|UMLS:C0017145		Gastric varices	http://purl.obolibrary.org/obo/HP_0030169	Extreme dilation of the submucusoal veins in the stomach.
HP:0030170	Cystic artery pseudoaneurysm	biolink:PhenotypicFeature	hp	UMLS:C4022601			http://purl.obolibrary.org/obo/HP_0030170	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197824007|UMLS:C0473124			http://purl.obolibrary.org/obo/HP_0030171	A collection of clotted blood surrounding the kidney.
HP:0030172	Peripheral amyelination	biolink:PhenotypicFeature	hp	UMLS:C4022600			http://purl.obolibrary.org/obo/HP_0030172	Congenital absence of the myelin sheath on a nerve.
HP:0030173	Peripheral hypermyelination	biolink:PhenotypicFeature	hp	UMLS:C4021049		Increased peripheral myelination	http://purl.obolibrary.org/obo/HP_0030173	Increased amount of peripheral myelination.
HP:0030174	Increased peripheral myelin thickness	biolink:PhenotypicFeature	hp	UMLS:C4022599			http://purl.obolibrary.org/obo/HP_0030174	Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.
HP:0030175	Myelin tomacula	biolink:PhenotypicFeature	hp	UMLS:C4020904		Tomacula	http://purl.obolibrary.org/obo/HP_0030175	The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).
HP:0030176	Asymmetric peripheral demyelination	biolink:PhenotypicFeature	hp	UMLS:C4022598			http://purl.obolibrary.org/obo/HP_0030176	Loss of myelin from peripheral nerves in a pattern that differs between right and left.
HP:0030177	Abnormality of peripheral nervous system electrophysiology	biolink:PhenotypicFeature	hp	UMLS:C0853150		Abnormal nerve conduction study	http://purl.obolibrary.org/obo/HP_0030177	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	biolink:PhenotypicFeature	hp	UMLS:C4022597		Abnormality of CNS electrophysiology	http://purl.obolibrary.org/obo/HP_0030178	
HP:0030179	Abnormal peripheral action potential amplitude	biolink:PhenotypicFeature	hp	UMLS:C4022596			http://purl.obolibrary.org/obo/HP_0030179	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:414949005|UMLS:C1532837		Oppenheim sign	http://purl.obolibrary.org/obo/HP_0030180	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	biolink:PhenotypicFeature	hp	UMLS:C4021048		Gordon sign	http://purl.obolibrary.org/obo/HP_0030181	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	biolink:PhenotypicFeature	hp	UMLS:C4022595			http://purl.obolibrary.org/obo/HP_0030182	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	biolink:PhenotypicFeature	hp	UMLS:C4021047		VVOR impairment|Visually enhanced vestibulo-ocular reflex impairment	http://purl.obolibrary.org/obo/HP_0030183	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	biolink:PhenotypicFeature	hp	UMLS:C4022594|UMLS:C4280303		Dystonia tremor	http://purl.obolibrary.org/obo/HP_0030185	An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).
HP:0030186	Kinetic tremor	biolink:PhenotypicFeature	hp	MSH:D014202|MSH:D020329|SNOMEDCT_US:30721006|SNOMEDCT_US:609558009|UMLS:C0234376|UMLS:C0270736		Essential tremor	http://purl.obolibrary.org/obo/HP_0030186	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78691002|UMLS:C0231690			http://purl.obolibrary.org/obo/HP_0030187	Nodding movement of the head or body.
HP:0030188	Tremor by anatomical site	biolink:PhenotypicFeature	hp	UMLS:C4022593		Tremor of a body part	http://purl.obolibrary.org/obo/HP_0030188	Tremor classified by the affected body part.
HP:0030190	Oral motor hypotonia	biolink:PhenotypicFeature	hp	UMLS:C4022592			http://purl.obolibrary.org/obo/HP_0030190	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	biolink:PhenotypicFeature	hp	UMLS:C4021046		Abnormal PNS synaptic transmission	http://purl.obolibrary.org/obo/HP_0030191	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	biolink:PhenotypicFeature	hp	UMLS:C4022591			http://purl.obolibrary.org/obo/HP_0030192	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	biolink:PhenotypicFeature	hp	UMLS:C4022590			http://purl.obolibrary.org/obo/HP_0030193	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	biolink:PhenotypicFeature	hp	UMLS:C4022589			http://purl.obolibrary.org/obo/HP_0030194	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	biolink:PhenotypicFeature	hp	UMLS:C4022588			http://purl.obolibrary.org/obo/HP_0030195	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	biolink:PhenotypicFeature	hp	UMLS:C4022587			http://purl.obolibrary.org/obo/HP_0030196	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	biolink:PhenotypicFeature	hp	UMLS:C4022586			http://purl.obolibrary.org/obo/HP_0030197	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	biolink:PhenotypicFeature	hp	UMLS:C4022585			http://purl.obolibrary.org/obo/HP_0030198	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	biolink:PhenotypicFeature	hp	UMLS:C4022584			http://purl.obolibrary.org/obo/HP_0030199	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	biolink:PhenotypicFeature	hp	UMLS:C4022583			http://purl.obolibrary.org/obo/HP_0030200	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	biolink:PhenotypicFeature	hp	UMLS:C4022582			http://purl.obolibrary.org/obo/HP_0030201	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	biolink:PhenotypicFeature	hp	UMLS:C4022581		Favourable response of weakness to acetylcholine esterase inhibitors	http://purl.obolibrary.org/obo/HP_0030202	Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.
HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	biolink:PhenotypicFeature	hp	UMLS:C4022580		Unfavourable response of muscle weakness to acetylcholine esterase inhibitors	http://purl.obolibrary.org/obo/HP_0030203	Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.
HP:0030205	Increased jitter at single fiber EMG	biolink:PhenotypicFeature	hp	UMLS:C4021045		Increased jitter at single fibre EMG|Increased jitter at single fibre electromyography	http://purl.obolibrary.org/obo/HP_0030205	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	biolink:PhenotypicFeature	hp	UMLS:C4022579			http://purl.obolibrary.org/obo/HP_0030206	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	biolink:PhenotypicFeature	hp	MSH:D005409|SNOMEDCT_US:12025005|SNOMEDCT_US:78011002|UMLS:C0016196|UMLS:C0231852		Paradoxical breathing|Flail chest	http://purl.obolibrary.org/obo/HP_0030207	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	Acetylcholine receptor antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4022578			http://purl.obolibrary.org/obo/HP_0030208	The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.
HP:0030209	Calcium channel antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4022577		Ca channel antibody positivity|Ca2+ channel antibody positivity	http://purl.obolibrary.org/obo/HP_0030209	The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.
HP:0030210	Muscle specific kinase antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4021044		Anti-MUSK antibodies	http://purl.obolibrary.org/obo/HP_0030210	The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).
HP:0030211	Slow pupillary light response	biolink:PhenotypicFeature	hp	UMLS:C4022576			http://purl.obolibrary.org/obo/HP_0030211	Reduced velocity and acceleration in the pupillary light response.
HP:0030212	Collectionism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247968005|UMLS:C0424290		Compulsive hoarding	http://purl.obolibrary.org/obo/HP_0030212	Excessive or pathological tendency to save and collect possessions.
HP:0030213	Emotional blunting	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6140007|UMLS:C0233469			http://purl.obolibrary.org/obo/HP_0030213	Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.
HP:0030214	Hypersexuality	biolink:PhenotypicFeature	hp	SNOMEDCT_US:73744004|UMLS:C0312420|UMLS:C0679145		Sex addiction	http://purl.obolibrary.org/obo/HP_0030214	Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.
HP:0030215	Inappropriate crying	biolink:PhenotypicFeature	hp	UMLS:C0860609		Inappropriate crying	http://purl.obolibrary.org/obo/HP_0030215	Uncontrolled episodes of crying, without apparent motivating stimuli.
HP:0030216	Inertia	biolink:PhenotypicFeature	hp	UMLS:C4022575			http://purl.obolibrary.org/obo/HP_0030216	Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).
HP:0030217	Limb apraxia	biolink:PhenotypicFeature	hp	UMLS:C4022574			http://purl.obolibrary.org/obo/HP_0030217	Difficulty in performing the correct execution of limbs movements in absence of motor impairment.
HP:0030218	Punding	biolink:PhenotypicFeature	hp	UMLS:C1963933			http://purl.obolibrary.org/obo/HP_0030218	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	biolink:PhenotypicFeature	hp	MSH:D057180|SNOMEDCT_US:230288001|UMLS:C0338462		Trouble remembering words	http://purl.obolibrary.org/obo/HP_0030219	A progressive loss of the ability to remember the meaning of words, faces and objects.
HP:0030220	Socially inappropriate behavior	biolink:PhenotypicFeature	hp	UMLS:C2220010		Socially inappropriate behavior|Socially inappropriate behaviour	http://purl.obolibrary.org/obo/HP_0030220	Behavior that is not in line with social norms.
HP:0030221	Sweet craving	biolink:PhenotypicFeature	hp	UMLS:C0241314		Sweet craving	http://purl.obolibrary.org/obo/HP_0030221	Excessive desire to eat sweet foods.
HP:0030222	Visual agnosia	biolink:PhenotypicFeature	hp	MSH:D000377|SNOMEDCT_US:25762009|UMLS:C0234502			http://purl.obolibrary.org/obo/HP_0030222	Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.
HP:0030223	Perseveration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:44515000|UMLS:C0233651		Perseverative behaviour|Perseverative behavior	http://purl.obolibrary.org/obo/HP_0030223	Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact.
HP:0030224	Abnormal muscle fiber desmin	biolink:PhenotypicFeature	hp	UMLS:C4022573		Abnormal muscle fibre desmin	http://purl.obolibrary.org/obo/HP_0030224	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	biolink:PhenotypicFeature	hp	UMLS:C4021043		Accumulation of muscle fibre desmin|Muscle fiber desmin-reactive inclusion bodies	http://purl.obolibrary.org/obo/HP_0030225	Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.
HP:0030226	Abnormal muscle fiber myotilin	biolink:PhenotypicFeature	hp	UMLS:C4022572		Abnormal muscle fibre myotilin	http://purl.obolibrary.org/obo/HP_0030226	A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.
HP:0030227	Accumulation of muscle fiber myotilin	biolink:PhenotypicFeature	hp	UMLS:C4022571		Accumulation of muscle fibre myotilin	http://purl.obolibrary.org/obo/HP_0030227	Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.
HP:0030228	Abnormal muscle fiber valosin-containing protein	biolink:PhenotypicFeature	hp	UMLS:C4022570		Abnormal muscle fibre valosin-containing protein	http://purl.obolibrary.org/obo/HP_0030228	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	biolink:PhenotypicFeature	hp	UMLS:C4022569		Accumulation of muscle fibre valosin-containing protein	http://purl.obolibrary.org/obo/HP_0030229	Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.
HP:0030230	Central core regions in muscle fibers	biolink:PhenotypicFeature	hp	UMLS:C4022568		Central core regions in muscle fibres	http://purl.obolibrary.org/obo/HP_0030230	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	biolink:PhenotypicFeature	hp	UMLS:C4022567		Glycogen accumulation in muscle fibre lysosomes	http://purl.obolibrary.org/obo/HP_0030231	An increased amount of glycogen in muscle tissue found specifically in lysosomes.
HP:0030232	Increased sarcoplasmic glycogen	biolink:PhenotypicFeature	hp	UMLS:C4022566			http://purl.obolibrary.org/obo/HP_0030232	Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.
HP:0030233	Bethlem sign	biolink:PhenotypicFeature	hp	UMLS:C4021042		Bethlem phenomenon	http://purl.obolibrary.org/obo/HP_0030233	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	biolink:PhenotypicFeature	hp	UMLS:C4022565		Highly elevated CPK|Highly elevated serum CK|Highly elevated serum CPK|Highly elevated serum phosph-CK|Highly elevated creatine phosphokinase	http://purl.obolibrary.org/obo/HP_0030234	An increased CPK level between 4X and 50X above the upper normal level.
HP:0030235	Extremely elevated creatine kinase	biolink:PhenotypicFeature	hp	UMLS:C4022564		Extremely elevated CPK|Extremely elevated phospho-CK serum level|Extremely elevated serum CK level|Extremely high CPK level|Extremely elevated creatine phosphokinase	http://purl.obolibrary.org/obo/HP_0030235	An increased creatine kinase level more than 50X above the upper normal level.
HP:0030236	Abnormality of muscle size	biolink:PhenotypicFeature	hp	UMLS:C4022563		Abnormality of muscle size	http://purl.obolibrary.org/obo/HP_0030236	Abnormalities of the overall muscle bulk based on clinical observation.
HP:0030237	Hand muscle weakness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298283006|UMLS:C0239831		Hand muscle weakness	http://purl.obolibrary.org/obo/HP_0030237	Reduced strength of the musculature of the hand.
HP:0030239	Hypoplasia of the upper arm musculature	biolink:PhenotypicFeature	hp	UMLS:C4022562		Underdeveloped upper arm muscles	http://purl.obolibrary.org/obo/HP_0030239	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	biolink:PhenotypicFeature	hp	UMLS:C1868170		Deltoid muscle hypoplasia	http://purl.obolibrary.org/obo/HP_0030241	Underdevelopment of the deltoid muscle.
HP:0030242	Portal vein thrombosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17920008|UMLS:C0155773		Blood clot in portal vein	http://purl.obolibrary.org/obo/HP_0030242	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	biolink:PhenotypicFeature	hp	MSH:D006502|SNOMEDCT_US:38739001|UMLS:C0019154		Blood clot in liver vein|Hepatic venous thrombosis	http://purl.obolibrary.org/obo/HP_0030243	An obstruction in the veins of the liver caused by a blood clot (thrombosis).
HP:0030244	Maternal fever in pregnancy	biolink:PhenotypicFeature	hp	UMLS:C4021041		Maternal fever during pregnancy	http://purl.obolibrary.org/obo/HP_0030244	The occurence of an elevated body temperature of the mother during pregnancy.
HP:0030245	Intrapartum fever	biolink:PhenotypicFeature	hp	UMLS:C3829514		Maternal fever during labor	http://purl.obolibrary.org/obo/HP_0030245	The occurence of maternal fever during labor.
HP:0030246	Maternal first trimester fever	biolink:PhenotypicFeature	hp	UMLS:C4022561			http://purl.obolibrary.org/obo/HP_0030246	The occurence of fever in a mother during the first trimester of pregnancy.
HP:0030247	Splanchnic vein thrombosis	biolink:PhenotypicFeature	hp	UMLS:C4022560		Blood clot in splanchnic vein	http://purl.obolibrary.org/obo/HP_0030247	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	biolink:PhenotypicFeature	hp	MSH:D065666|SNOMEDCT_US:95446005|UMLS:C0267412		Blood clot in mesentertic vein	http://purl.obolibrary.org/obo/HP_0030248	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:5862001|UMLS:C0014034			http://purl.obolibrary.org/obo/HP_0030249	A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.
HP:0030250	Pulmonary granulomatosis	biolink:PhenotypicFeature	hp	UMLS:C0856628			http://purl.obolibrary.org/obo/HP_0030250	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.
HP:0030251	Absence of memory B cells	biolink:PhenotypicFeature	hp	UMLS:C4022559			http://purl.obolibrary.org/obo/HP_0030251	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	Absence of mature B cells	biolink:PhenotypicFeature	hp	UMLS:C4022558			http://purl.obolibrary.org/obo/HP_0030252	Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
HP:0030253	Defective T cell proliferation	biolink:PhenotypicFeature	hp	UMLS:C4022557			http://purl.obolibrary.org/obo/HP_0030253	A reduced ability of a T cell population to expand by cell division following T cell activation.
HP:0030254	Nail bed hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C0877087		Nail bed haemorrhage	http://purl.obolibrary.org/obo/HP_0030254	Small areas of bleeding (hemorrhage) under the fingernail or toenail.
HP:0030255	Large intestinal polyposis	biolink:PhenotypicFeature	hp	UMLS:C4022556			http://purl.obolibrary.org/obo/HP_0030255	The presence of multiple polyps in the large intestine.
HP:0030256	Small intestinal polyposis	biolink:PhenotypicFeature	hp	UMLS:C4022555			http://purl.obolibrary.org/obo/HP_0030256	The presence of multiple polyps in the small intestine.
HP:0030257	Freckled genitalia	biolink:PhenotypicFeature	hp	UMLS:C4021040		Freckled genitalia|Genitalia, ephelides	http://purl.obolibrary.org/obo/HP_0030257	One or more brown punctate macules on the skin of the genitalia.
HP:0030258	Hyperpigmented genitalia	biolink:PhenotypicFeature	hp	UMLS:C4020713|UMLS:C4022554		Increased genital pigmentation|Penile melanosis	http://purl.obolibrary.org/obo/HP_0030258	Localized or generalized increased genital pigmentation.
HP:0030259	Hypopigmented genitalia	biolink:PhenotypicFeature	hp	UMLS:C4022553		Decreased genital pigmentation	http://purl.obolibrary.org/obo/HP_0030259	Localized or generalized decreased genital pigmentation.
HP:0030260	Microphallus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276333003|UMLS:C0240701			http://purl.obolibrary.org/obo/HP_0030260	Length of penis more than 2 SD below the mean for age accompanied by hypospadias.
HP:0030261	Absent penis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204908001|SNOMEDCT_US:59981001|UMLS:C0555231		Absent penis|Aphallia|Aplasia of the penis|Penis aplasia	http://purl.obolibrary.org/obo/HP_0030261	Lack of recognizable penile structures.
HP:0030262	Narrow penis	biolink:PhenotypicFeature	hp	UMLS:C4022552		Narrow penis	http://purl.obolibrary.org/obo/HP_0030262	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	biolink:PhenotypicFeature	hp	UMLS:C1407019			http://purl.obolibrary.org/obo/HP_0030263	Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.
HP:0030264	Webbed penis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253852007|UMLS:C0431670		Webbed penis	http://purl.obolibrary.org/obo/HP_0030264	Ventral skinfold extending from penis to scrotum.
HP:0030265	Wide penis	biolink:PhenotypicFeature	hp	UMLS:C4022551		Wide penis	http://purl.obolibrary.org/obo/HP_0030265	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:0030266	obsolete Abnormality of the sacroiliac notch	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030266	
HP:0030267	Calcification of the interosseus membrane of the forearm	biolink:PhenotypicFeature	hp	UMLS:C4022549			http://purl.obolibrary.org/obo/HP_0030267	Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.
HP:0030268	Hyperplastic callus formation	biolink:PhenotypicFeature	hp	UMLS:C4022548			http://purl.obolibrary.org/obo/HP_0030268	Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.
HP:0030269	Increased serum insulin-like growth factor 1	biolink:PhenotypicFeature	hp	UMLS:C2676198		Elevated serum IGF1|Increased serum IGF1|Increased serum insulin-like growth factor 1	http://purl.obolibrary.org/obo/HP_0030269	An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.
HP:0030270	Elevated red cell adenosine deaminase level	biolink:PhenotypicFeature	hp	UMLS:C4022547			http://purl.obolibrary.org/obo/HP_0030270	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	biolink:PhenotypicFeature	hp	UMLS:C4022546			http://purl.obolibrary.org/obo/HP_0030271	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	biolink:PhenotypicFeature	hp	UMLS:C4022545			http://purl.obolibrary.org/obo/HP_0030272	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	biolink:PhenotypicFeature	hp	UMLS:C4022544			http://purl.obolibrary.org/obo/HP_0030273	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	biolink:PhenotypicFeature	hp	UMLS:C4022543		Extra scrotum	http://purl.obolibrary.org/obo/HP_0030274	Additional scrotum, or part of a scrotum in an abnormal location.
HP:0030275	Ectopic scrotum	biolink:PhenotypicFeature	hp	UMLS:C4022542		Abnormal scrotum position	http://purl.obolibrary.org/obo/HP_0030275	Scrotum in a position other than the usual position inferior to the base of the penis.
HP:0030276	Small scrotum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204912007|UMLS:C0431659		Small scrotum|Underdeveloped scrotum	http://purl.obolibrary.org/obo/HP_0030276	Apparently small scrotum for age.
HP:0030277	Abnormal vertebral pedicle morphology	biolink:PhenotypicFeature	hp	UMLS:C4022541			http://purl.obolibrary.org/obo/HP_0030277	Abnormal morphology of a vertebral pedical.
HP:0030278	Hypoplastic vertebral pedicle	biolink:PhenotypicFeature	hp	UMLS:C4022540			http://purl.obolibrary.org/obo/HP_0030278	Underdeveloped vertebral pedicle.
HP:0030279	Hypoplastic L5 vertebral pedicle	biolink:PhenotypicFeature	hp	UMLS:C4022539			http://purl.obolibrary.org/obo/HP_0030279	Underdeveloped pedicle of the fifth lumbar vertebra.
HP:0030280	Rib gap	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249705009|UMLS:C0426827		Rib gap	http://purl.obolibrary.org/obo/HP_0030280	Radiolucent focal defect of a rib shaft.
HP:0030281	Cervical C3/C4 vertebral fusion	biolink:PhenotypicFeature	hp	UMLS:C4022538			http://purl.obolibrary.org/obo/HP_0030281	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	biolink:PhenotypicFeature	hp	UMLS:C1842696		Dorsal rib defect	http://purl.obolibrary.org/obo/HP_0030282	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:422474003|UMLS:C1827299			http://purl.obolibrary.org/obo/HP_0030283	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	biolink:PhenotypicFeature	hp	UMLS:C4022537		Triangle shaped tongue|Triangular tongue	http://purl.obolibrary.org/obo/HP_0030284	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	biolink:PhenotypicFeature	hp	UMLS:C4022536			http://purl.obolibrary.org/obo/HP_0030285	Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.
HP:0030286	Atrophic superior cerebellar peduncle	biolink:PhenotypicFeature	hp	UMLS:C4022535			http://purl.obolibrary.org/obo/HP_0030286	Atrophy of the superior cerebellar peduncle.
HP:0030289	Flattened femoral epiphysis	biolink:PhenotypicFeature	hp	UMLS:C1850642		Flattended end part of thigh bone	http://purl.obolibrary.org/obo/HP_0030289	An abnormal flattening of an epiphysis of femur.
HP:0030290	Unossified sacrum	biolink:PhenotypicFeature	hp	UMLS:C2675562		Absence of sacrum ossification	http://purl.obolibrary.org/obo/HP_0030290	Lack of ossification of the sacrum.
HP:0030291	Lower-limb metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4022534			http://purl.obolibrary.org/obo/HP_0030291	Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.
HP:0030292	Tibial metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4022533			http://purl.obolibrary.org/obo/HP_0030292	Irregularity of the normally smooth surface of a metaphysis of a tibia.
HP:0030293	Fibular metaphyseal irregularity	biolink:PhenotypicFeature	hp	UMLS:C4022532		Irregularity of wide portion of calf bone	http://purl.obolibrary.org/obo/HP_0030293	Irregularity of the normally smooth surface of a metaphysis of a fibula.
HP:0030294	Metaphyseal chondromatosis of tibia	biolink:PhenotypicFeature	hp	UMLS:C4022531			http://purl.obolibrary.org/obo/HP_0030294	
HP:0030295	Metaphyseal chondromatosis of femur	biolink:PhenotypicFeature	hp	UMLS:C4022530			http://purl.obolibrary.org/obo/HP_0030295	
HP:0030296	Metaphyseal chondromatosis of radius	biolink:PhenotypicFeature	hp	UMLS:C4022529			http://purl.obolibrary.org/obo/HP_0030296	
HP:0030297	Metaphyseal chondromatosis of ulna	biolink:PhenotypicFeature	hp	UMLS:C4022528			http://purl.obolibrary.org/obo/HP_0030297	
HP:0030298	Metaphyseal chondromatosis of humerus	biolink:PhenotypicFeature	hp	UMLS:C4021860			http://purl.obolibrary.org/obo/HP_0030298	
HP:0030299	Distal femoral metaphyseal abnormality	biolink:PhenotypicFeature	hp	UMLS:C4022527		Abnormality of wide portion of outermost thighbone	http://purl.obolibrary.org/obo/HP_0030299	An anomaly of the metaphysis of the distal femur (close to the knee).
HP:0030300	10 pairs of ribs	biolink:PhenotypicFeature	hp	UMLS:C4022526		10 pairs of ribs	http://purl.obolibrary.org/obo/HP_0030300	Presence of only 10 (instead of the usual 12) pairs of ribs.
HP:0030301	Abnormality of the anterior commissure	biolink:PhenotypicFeature	hp	UMLS:C4022525			http://purl.obolibrary.org/obo/HP_0030301	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	biolink:PhenotypicFeature	hp	UMLS:C1851087			http://purl.obolibrary.org/obo/HP_0030302	Absence of the anterior commissure.
HP:0030303	Hypoplastic anterior commissure	biolink:PhenotypicFeature	hp	UMLS:C4022524			http://purl.obolibrary.org/obo/HP_0030303	Underdevelopment of the anterior commissure.
HP:0030304	Abnormal number of vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4022523			http://purl.obolibrary.org/obo/HP_0030304	A deviation from the normal number of vertebrae in the spinal column.
HP:0030305	Decreased number of vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4022522			http://purl.obolibrary.org/obo/HP_0030305	
HP:0030306	11 thoracic vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4022521			http://purl.obolibrary.org/obo/HP_0030306	The presence of 11 instead of the normal 12 thoracic vertebrae.
HP:0030307	Flared lower limb metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4022520		Flared metaphysis of lower limb bone	http://purl.obolibrary.org/obo/HP_0030307	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	biolink:PhenotypicFeature	hp	UMLS:C4022519		Flared outermost metaphysis of shankbone|Flared outermost metaphysis of shinbone	http://purl.obolibrary.org/obo/HP_0030308	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.
HP:0030309	Flared distal fibular metaphysis	biolink:PhenotypicFeature	hp	UMLS:C4022518		Flared outermost wide portion of of calf bone	http://purl.obolibrary.org/obo/HP_0030309	The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.
HP:0030310	Upper extremity joint dislocation	biolink:PhenotypicFeature	hp	UMLS:C4022517		Dislocated arm joints	http://purl.obolibrary.org/obo/HP_0030310	Displacement or malalignment of one or more joints in the upper extremity (arm).
HP:0030311	Lower extremity joint dislocation	biolink:PhenotypicFeature	hp	UMLS:C4022516		Dislocated leg joints	http://purl.obolibrary.org/obo/HP_0030311	Displacement or malalignment of one or more joints in the lower extremity (leg).
HP:0030312	Obliteration of the calvarial diploe	biolink:PhenotypicFeature	hp	UMLS:C1860855		Obliteration of cranial cancellous bone	http://purl.obolibrary.org/obo/HP_0030312	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	biolink:PhenotypicFeature	hp	UMLS:C4022515			http://purl.obolibrary.org/obo/HP_0030313	An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.
HP:0030314	Periostosis	biolink:PhenotypicFeature	hp	UMLS:C1409412			http://purl.obolibrary.org/obo/HP_0030314	Abnormal deposition of periosteal bone.
HP:0030318	Angular cheilitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:266429005|UMLS:C0221237		Inflammation of corners of the mouth|Red and sore corners of the mouth|Angular cheilosis|Angular stomatitis|Commissural cheilitis|Inflammation of oral commisures	http://purl.obolibrary.org/obo/HP_0030318	A type of inflammation of the lips involving one or both of the corners of the mouth.
HP:0030319	Weakness of facial musculature	biolink:PhenotypicFeature	hp	UMLS:C4022514		Decreased facial muscle strength|Decreased strength of facial muscles|Face weakness|Facial muscle weakness|Facial weakness|Reduced facial muscle strength|Weakness of face|Weakness of facial musculature|Myasthenia of facial muscles	http://purl.obolibrary.org/obo/HP_0030319	Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
HP:0030320	Increased intervertebral space	biolink:PhenotypicFeature	hp	UMLS:C4022513			http://purl.obolibrary.org/obo/HP_0030320	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	biolink:PhenotypicFeature	hp	UMLS:C4022512		Abnormality of the vertebral artery	http://purl.obolibrary.org/obo/HP_0030321	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	biolink:PhenotypicFeature	hp	UMLS:C1868737			http://purl.obolibrary.org/obo/HP_0030322	Underdevelopment of the vertebral artery.
HP:0030323	Unilateral vertebral artery hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C3279090			http://purl.obolibrary.org/obo/HP_0030323	Underdevelopment of the vertebral artery on one side.
HP:0030324	Bilateral vertebral artery hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4022511			http://purl.obolibrary.org/obo/HP_0030324	Underdevelopment of the vertebral artery on both sides.
HP:0030325	Cervicomedullary schisis	biolink:PhenotypicFeature	hp	UMLS:C4022510			http://purl.obolibrary.org/obo/HP_0030325	Fissure within the spinal cord of the neck.
HP:0030326	Abnormal macrophage count	biolink:PhenotypicFeature	hp	UMLS:C4022509			http://purl.obolibrary.org/obo/HP_0030326	An anomaly in the number of macrophages.
HP:0030327	Abnormal osteoclast count	biolink:PhenotypicFeature	hp	UMLS:C4022508			http://purl.obolibrary.org/obo/HP_0030327	An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.
HP:0030328	Decreased osteoclast count	biolink:PhenotypicFeature	hp	UMLS:C4022507			http://purl.obolibrary.org/obo/HP_0030328	Decreased number of osteoclasts.
HP:0030329	Retinal thinning	biolink:PhenotypicFeature	hp	UMLS:C3549703		Retinal thinning	http://purl.obolibrary.org/obo/HP_0030329	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	biolink:PhenotypicFeature	hp	UMLS:C4022506			http://purl.obolibrary.org/obo/HP_0030330	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	biolink:PhenotypicFeature	hp	UMLS:C4022505			http://purl.obolibrary.org/obo/HP_0030331	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:0030332	obsolete Abnormal T cell morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030332	
HP:0030333	Abnormal alpha-beta T cell morphology	biolink:PhenotypicFeature	hp	UMLS:C4022503			http://purl.obolibrary.org/obo/HP_0030333	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	biolink:PhenotypicFeature	hp	UMLS:C4022502			http://purl.obolibrary.org/obo/HP_0030334	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	biolink:PhenotypicFeature	hp	UMLS:C4021859			http://purl.obolibrary.org/obo/HP_0030335	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	biolink:PhenotypicFeature	hp	UMLS:C4021039		Absence of CD4+CD25+ T regulatory cells|Absence of CD4+CD25+ Tregs	http://purl.obolibrary.org/obo/HP_0030336	Lack of CD4+CD25+ T regulatory cells.
HP:0030337	Elevated CD4-positive, CD25-positive regulatory T cell count	biolink:PhenotypicFeature	hp	UMLS:C4022501			http://purl.obolibrary.org/obo/HP_0030337	An increased number of CD4-positive, CD25-positive regulatory T cells.
HP:0030338	Abnormal circulating gonadotropin level	biolink:PhenotypicFeature	hp	UMLS:C4072886			http://purl.obolibrary.org/obo/HP_0030338	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 level	biolink:PhenotypicFeature	hp	UMLS:C4072887			http://purl.obolibrary.org/obo/HP_0030339	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:0030340	obsolete Increased circulating gonadotropin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030340	
HP:0030341	Decreased circulating follicle stimulating hormone level	biolink:PhenotypicFeature	hp	UMLS:C4072889			http://purl.obolibrary.org/obo/HP_0030341	A reduction of the circulating level of follicle-stimulating hormone (FSH).
HP:0030344	Decreased circulating luteinizing hormone level	biolink:PhenotypicFeature	hp	UMLS:C4072890		Decreased circulating luteinising hormone level	http://purl.obolibrary.org/obo/HP_0030344	A reduction in the circulating level of luteinizing hormone (LH).
HP:0030345	Abnormal circulating luteinizing hormone level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:166374003|UMLS:C0580438		Abnormal luteinizing hormone level|Increased circulating lutropin	http://purl.obolibrary.org/obo/HP_0030345	An anomaly of the circulating level of luteinizing hormone (LH).
HP:0030346	Abnormal circulating follicle-stimulating hormone level	biolink:PhenotypicFeature	hp	UMLS:C4072891			http://purl.obolibrary.org/obo/HP_0030346	An anomaly of the circulating level of follicle-stimulating hormone (FSH).
HP:0030347	Abnormal circulating androgen level	biolink:PhenotypicFeature	hp	UMLS:C4072892			http://purl.obolibrary.org/obo/HP_0030347	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 level	biolink:PhenotypicFeature	hp	UMLS:C4072893			http://purl.obolibrary.org/obo/HP_0030348	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 level	biolink:PhenotypicFeature	hp	UMLS:C4072894			http://purl.obolibrary.org/obo/HP_0030349	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	biolink:PhenotypicFeature	hp	UMLS:C0747241		Red-blue papule	http://purl.obolibrary.org/obo/HP_0030350	A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.
HP:0030351	Urticarial plaque	biolink:PhenotypicFeature	hp	UMLS:C4072895			http://purl.obolibrary.org/obo/HP_0030351	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	biolink:PhenotypicFeature	hp	UMLS:C4072896			http://purl.obolibrary.org/obo/HP_0030352	An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.
HP:0030353	Decreased serum insulin-like growth factor 1	biolink:PhenotypicFeature	hp	UMLS:C4072897			http://purl.obolibrary.org/obo/HP_0030353	A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
HP:0030354	Abnormal serum interferon level	biolink:PhenotypicFeature	hp	UMLS:C4072898			http://purl.obolibrary.org/obo/HP_0030354	Abnormal levels of interferon in the blood.
HP:0030355	Abnormal serum interferon-gamma level	biolink:PhenotypicFeature	hp	UMLS:C4072899			http://purl.obolibrary.org/obo/HP_0030355	Abnormal levels of interferon gamma measured in the blood circulation.
HP:0030356	Increased serum interferon-gamma level	biolink:PhenotypicFeature	hp	UMLS:C4072900			http://purl.obolibrary.org/obo/HP_0030356	An elevation in the concentration of interferon gamma measured in the blood circulation.
HP:0030357	Small cell lung carcinoma	biolink:PhenotypicFeature	hp	MSH:D055752|SNOMEDCT_US:254632001|SNOMEDCT_US:254633006|UMLS:C0149925		Oat cell carcinoma of lung|Oat cell lung cancer|Small cell lung cancer	http://purl.obolibrary.org/obo/HP_0030357	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	biolink:PhenotypicFeature	hp	MSH:D002289|SNOMEDCT_US:254637007|UMLS:C0007131		Non-small cell lung cancer	http://purl.obolibrary.org/obo/HP_0030358	
HP:0030359	Squamous cell lung carcinoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254634000|UMLS:C0149782			http://purl.obolibrary.org/obo/HP_0030359	A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.
HP:0030360	Large cell lung carcinoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254629004|UMLS:C0345958			http://purl.obolibrary.org/obo/HP_0030360	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	biolink:PhenotypicFeature	hp	UMLS:C4072901		Abnormality of icosanoid metabolism	http://purl.obolibrary.org/obo/HP_0030361	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	biolink:PhenotypicFeature	hp	UMLS:C4072902			http://purl.obolibrary.org/obo/HP_0030362	A reduction in the level of carnitine in muscle tissue.
HP:0030363	Primary Caesarian section	biolink:PhenotypicFeature	hp	UMLS:C4072903			http://purl.obolibrary.org/obo/HP_0030363	Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.
HP:0030364	Secondary Caesarian section	biolink:PhenotypicFeature	hp	UMLS:C4072904			http://purl.obolibrary.org/obo/HP_0030364	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	biolink:PhenotypicFeature	hp	MSH:D016064|UMLS:C0080301			http://purl.obolibrary.org/obo/HP_0030365	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	biolink:PhenotypicFeature	hp	UMLS:C4072905			http://purl.obolibrary.org/obo/HP_0030366	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	biolink:PhenotypicFeature	hp	UMLS:C4072906			http://purl.obolibrary.org/obo/HP_0030367	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	biolink:PhenotypicFeature	hp	UMLS:C4072907		Hyperphalangy of index finger	http://purl.obolibrary.org/obo/HP_0030368	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	biolink:PhenotypicFeature	hp	UMLS:C4072908			http://purl.obolibrary.org/obo/HP_0030369	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	biolink:PhenotypicFeature	hp	UMLS:C4072909			http://purl.obolibrary.org/obo/HP_0030370	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	biolink:PhenotypicFeature	hp	UMLS:C4072910			http://purl.obolibrary.org/obo/HP_0030371	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	biolink:PhenotypicFeature	hp	UMLS:C4072911			http://purl.obolibrary.org/obo/HP_0030372	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	biolink:PhenotypicFeature	hp	UMLS:C4072912			http://purl.obolibrary.org/obo/HP_0030373	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	biolink:PhenotypicFeature	hp	UMLS:C4072913			http://purl.obolibrary.org/obo/HP_0030374	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	biolink:PhenotypicFeature	hp	UMLS:C4072914			http://purl.obolibrary.org/obo/HP_0030375	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	biolink:PhenotypicFeature	hp	UMLS:C4072915		Abnormal proportion of CD19+/CD21low B cells	http://purl.obolibrary.org/obo/HP_0030376	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	biolink:PhenotypicFeature	hp	UMLS:C4072916		Increased proportion of CD19+/CD21low B cells	http://purl.obolibrary.org/obo/HP_0030377	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	biolink:PhenotypicFeature	hp	UMLS:C4072917		Decreased proportion of CD19+/CD21low B cells	http://purl.obolibrary.org/obo/HP_0030378	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	biolink:PhenotypicFeature	hp	UMLS:C4072918		Abnormal proportion of CD19+CD38+IgM+ cells	http://purl.obolibrary.org/obo/HP_0030379	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	biolink:PhenotypicFeature	hp	UMLS:C4072919		Decreased proportion of CD19+CD38+IgM+ cells	http://purl.obolibrary.org/obo/HP_0030380	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	biolink:PhenotypicFeature	hp	UMLS:C4072920		Increased proportion of CD19+CD38+IgM+ cells	http://purl.obolibrary.org/obo/HP_0030381	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	biolink:PhenotypicFeature	hp	UMLS:C4072921			http://purl.obolibrary.org/obo/HP_0030383	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	biolink:PhenotypicFeature	hp	UMLS:C4072922			http://purl.obolibrary.org/obo/HP_0030384	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	biolink:PhenotypicFeature	hp	UMLS:C4072923			http://purl.obolibrary.org/obo/HP_0030385	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	biolink:PhenotypicFeature	hp	UMLS:C4072924		Abnormal proportion of CD19+CD27+IgD- cells	http://purl.obolibrary.org/obo/HP_0030386	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	biolink:PhenotypicFeature	hp	UMLS:C4073288		Increased proportion of CD19+CD27+IgD- cells	http://purl.obolibrary.org/obo/HP_0030387	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	biolink:PhenotypicFeature	hp	UMLS:C4072925		Decreased proportion of CD19+CD27+IgD- cells	http://purl.obolibrary.org/obo/HP_0030388	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	biolink:PhenotypicFeature	hp	UMLS:C4072926			http://purl.obolibrary.org/obo/HP_0030389	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	biolink:PhenotypicFeature	hp	UMLS:C4072927			http://purl.obolibrary.org/obo/HP_0030390	An abnormally decreased concentration of leukotriene C4 in the blood circulation.
HP:0030391	Spoken Word Recognition Deficit	biolink:PhenotypicFeature	hp	UMLS:C4072928			http://purl.obolibrary.org/obo/HP_0030391	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	biolink:PhenotypicFeature	hp	MSH:C562943|SNOMEDCT_US:88252006|UMLS:C0431109			http://purl.obolibrary.org/obo/HP_0030392	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:699817008|UMLS:C2348239		Endolymphatic sac tumour|Aggressive papillary middle ear tumor|Heffner tumor|Low-grade adenocarcinoma of endolymphatic sac origin	http://purl.obolibrary.org/obo/HP_0030393	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	biolink:PhenotypicFeature	hp	MSH:D005185|SNOMEDCT_US:276870001|UMLS:C0238122			http://purl.obolibrary.org/obo/HP_0030394	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	biolink:PhenotypicFeature	hp	UMLS:C4072929			http://purl.obolibrary.org/obo/HP_0030396	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	biolink:PhenotypicFeature	hp	UMLS:C4072930			http://purl.obolibrary.org/obo/HP_0030397	Abnormal release of dense granules from platelets.
HP:0030398	Abnormal platelet ATP dense granule secretion	biolink:PhenotypicFeature	hp	UMLS:C4072931			http://purl.obolibrary.org/obo/HP_0030398	Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).
HP:0030399	Abnormal platelet alpha granule secretion	biolink:PhenotypicFeature	hp	UMLS:C4072932			http://purl.obolibrary.org/obo/HP_0030399	Abnormal release of alpha granule contents from platelets.
HP:0030400	Abnormal platelet lysosome secretion	biolink:PhenotypicFeature	hp	UMLS:C4072933			http://purl.obolibrary.org/obo/HP_0030400	Abnormal release of lysosome contents from platelets.
HP:0030401	Abnormal platelet dense granule ATP/ADP ratio	biolink:PhenotypicFeature	hp	UMLS:C4072934			http://purl.obolibrary.org/obo/HP_0030401	Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.
HP:0030402	Abnormal platelet aggregation	biolink:PhenotypicFeature	hp	UMLS:C0541767			http://purl.obolibrary.org/obo/HP_0030402	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	biolink:PhenotypicFeature	hp	MSH:C566800|UMLS:C1868263			http://purl.obolibrary.org/obo/HP_0030403	Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.
HP:0030404	Glucagonoma	biolink:PhenotypicFeature	hp	MSH:D005935|SNOMEDCT_US:128855009|SNOMEDCT_US:16424000|SNOMEDCT_US:302823005|UMLS:C0017689			http://purl.obolibrary.org/obo/HP_0030404	An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.
HP:0030405	Pancreatic endocrine tumor	biolink:PhenotypicFeature	hp	MSH:D007516|SNOMEDCT_US:126864006|SNOMEDCT_US:128878003|SNOMEDCT_US:237596009|SNOMEDCT_US:399528006|SNOMEDCT_US:76345009|UMLS:C0242363		Pancreatic endocrine tumour	http://purl.obolibrary.org/obo/HP_0030405	A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.
HP:0030406	Primary peritoneal carcinoma	biolink:PhenotypicFeature	hp	UMLS:C1514428			http://purl.obolibrary.org/obo/HP_0030406	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	biolink:PhenotypicFeature	hp	MSH:D010871|NCIT:C6966|SNOMEDCT_US:255045009|SNOMEDCT_US:89096009|UMLS:C0917890			http://purl.obolibrary.org/obo/HP_0030407	A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).
HP:0030408	Pineoblastoma	biolink:PhenotypicFeature	hp	MSH:D010871|SNOMEDCT_US:31671006|UMLS:C0205898		Pinealoblastoma	http://purl.obolibrary.org/obo/HP_0030408	Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.
HP:0030409	Renal transitional cell carcinoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:408642003|UMLS:C1319314		Renal urothelial carcinoma|Transitional renal cell carcinoma|renal TCC	http://purl.obolibrary.org/obo/HP_0030409	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	biolink:PhenotypicFeature	hp	MSH:D018266|SNOMEDCT_US:307599002|SNOMEDCT_US:54734006|UMLS:C0206684		Sebaceous carcinoma	http://purl.obolibrary.org/obo/HP_0030410	A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)
HP:0030411	Jejunal adenocarcinoma	biolink:PhenotypicFeature	hp	NCIT:C2852|UMLS:C4072935			http://purl.obolibrary.org/obo/HP_0030411	A malignant epithelial tumor with a glandular organization that originates in the jejunum.
HP:0030412	Ileal adenocarcinoma	biolink:PhenotypicFeature	hp	NCIT:C2852|UMLS:C4072936			http://purl.obolibrary.org/obo/HP_0030412	A malignant epithelial tumor with a glandular organization that originates in the ileum.
HP:0030413	Squamous cell carcinoma of the tongue	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276952000|UMLS:C0349566			http://purl.obolibrary.org/obo/HP_0030413	A carcinoma derived from a squamous epithelial cell of the tongue.
HP:0030414	Verrucous cell carcinoma of the tongue	biolink:PhenotypicFeature	hp	UMLS:C4072937			http://purl.obolibrary.org/obo/HP_0030414	A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.
HP:0030415	Sarcomatoid carcinoma of the tongue	biolink:PhenotypicFeature	hp	UMLS:C2018408		Spindle cell carcinoma of the tongue	http://purl.obolibrary.org/obo/HP_0030415	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	biolink:PhenotypicFeature	hp	MSH:D014846|NCIT:C3262|SNOMEDCT_US:126922007|UMLS:C0042995		Tumor of the vulva|Neoplasm of the vulva	http://purl.obolibrary.org/obo/HP_0030416	A tumor (abnormal growth of tissue) of the female external genital tract (vulva).
HP:0030417	Squamous cell carcinoma of the vulva	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254895003|UMLS:C0280856		Vulval squamous cell carcinoma	http://purl.obolibrary.org/obo/HP_0030417	A cancer that originates in the squamous cells that line the surface of the vulva.
HP:0030418	Vulvar melanoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254896002|UMLS:C0241989			http://purl.obolibrary.org/obo/HP_0030418	A type of vulvar cancer that originates from melanocytes of the vulva.
HP:0030419	Bartholin gland carcinoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276876007|SNOMEDCT_US:399533005|UMLS:C0349561			http://purl.obolibrary.org/obo/HP_0030419	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	biolink:PhenotypicFeature	hp	UMLS:C1336975			http://purl.obolibrary.org/obo/HP_0030420	An adenocarcinoma arising in the vulva.
HP:0030421	Epididymal neoplasm	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:126902008|UMLS:C0346239			http://purl.obolibrary.org/obo/HP_0030421	A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.
HP:0030422	obsolete Papillary cystadenoma of the epididymis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030422	
HP:0030423	Splenic cyst	biolink:PhenotypicFeature	hp	SNOMEDCT_US:79040006|UMLS:C0272407		Cyst on spleen	http://purl.obolibrary.org/obo/HP_0030423	A closed sac located in the spleen.
HP:0030424	Epididymal cyst	biolink:PhenotypicFeature	hp	MSH:D013088|SNOMEDCT_US:43077002|SNOMEDCT_US:49263001|UMLS:C0037859		Epididymal cysts	http://purl.obolibrary.org/obo/HP_0030424	A smooth, extratesticular, spherical cyst in the head of the epididymis.
HP:0030425	Calcified ovarian cyst	biolink:PhenotypicFeature	hp	UMLS:C4072939			http://purl.obolibrary.org/obo/HP_0030425	A cyst of the ovary that exhibits deposition of calcium salts.
HP:0030426	Ossifying fibroma	biolink:PhenotypicFeature	hp	MSH:D018214|SNOMEDCT_US:25603007|SNOMEDCT_US:302862001|SNOMEDCT_US:302863006|SNOMEDCT_US:80699009|UMLS:C0206640			http://purl.obolibrary.org/obo/HP_0030426	A benign central bone tumor composed of fibrous connective tissue within which bone is formed.
HP:0030427	Ossifying fibroma of the jaw	biolink:PhenotypicFeature	hp	UMLS:C4072940			http://purl.obolibrary.org/obo/HP_0030427	A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.
HP:0030428	Cutaneous myxoma	biolink:PhenotypicFeature	hp	NCIT:C6577|UMLS:C1333178			http://purl.obolibrary.org/obo/HP_0030428	A myxoma originating in the skin.
HP:0030429	Juvenile nasopharyngeal angiofibroma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60392001|SNOMEDCT_US:716590006|UMLS:C1367536			http://purl.obolibrary.org/obo/HP_0030429	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	biolink:PhenotypicFeature	hp	MSH:D009463|SNOMEDCT_US:25169009|SNOMEDCT_US:274089002|SNOMEDCT_US:443892003|SNOMEDCT_US:84116009|UMLS:C0027858|UMLS:C0273482		Nerve tumor|Pinched nerve	http://purl.obolibrary.org/obo/HP_0030430	A tumor made up of nerve cells and nerve fibers.
HP:0030431	Osteochondroma	biolink:PhenotypicFeature	hp	MSH:D015831|SNOMEDCT_US:307573009|SNOMEDCT_US:443093007|SNOMEDCT_US:52299001|UMLS:C0029423		Osteocartilaginous exostoses|Osteochondromas	http://purl.obolibrary.org/obo/HP_0030431	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	biolink:PhenotypicFeature	hp	MSH:D002804|SNOMEDCT_US:9001003|UMLS:C0008441			http://purl.obolibrary.org/obo/HP_0030432	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	biolink:PhenotypicFeature	hp	MSH:D010017|SNOMEDCT_US:302859004|SNOMEDCT_US:71666005|UMLS:C0029441			http://purl.obolibrary.org/obo/HP_0030433	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	biolink:PhenotypicFeature	hp	MSH:D018296|SNOMEDCT_US:274901004|SNOMEDCT_US:44155009|UMLS:C0206711			http://purl.obolibrary.org/obo/HP_0030434	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128683008|SNOMEDCT_US:254699007|UMLS:C0346011		Fibrofolliculomas	http://purl.obolibrary.org/obo/HP_0030436	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	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:126850006|UMLS:C0345883		Anal canal tumor	http://purl.obolibrary.org/obo/HP_0030437	
HP:0030438	Anal canal squamous cell carcinoma	biolink:PhenotypicFeature	hp	UMLS:C1332262			http://purl.obolibrary.org/obo/HP_0030438	A squamous cell carcinoma that originates in the anal canal.
HP:0030439	Anal canal adenocarcinoma	biolink:PhenotypicFeature	hp	NCIT:C2852|UMLS:C1332259			http://purl.obolibrary.org/obo/HP_0030439	An adenoma carcinoma that originates in the anal canal.
HP:0030440	Anal margin neoplasm	biolink:PhenotypicFeature	hp	UMLS:C2064234			http://purl.obolibrary.org/obo/HP_0030440	A tumor of the anal margin.
HP:0030441	Anal margin Paget's disease	biolink:PhenotypicFeature	hp	UMLS:C1332270			http://purl.obolibrary.org/obo/HP_0030441	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:255084004|UMLS:C1412037			http://purl.obolibrary.org/obo/HP_0030442	A squamous cell carcinoma that originates in the skin of the anal margin.
HP:0030443	Anal margin basal cell carcinoma	biolink:PhenotypicFeature	hp	UMLS:C1332269			http://purl.obolibrary.org/obo/HP_0030443	A basal cell carcinoma that originates in the anal margin.
HP:0030444	Anal margin melanoma	biolink:PhenotypicFeature	hp	UMLS:C4072941			http://purl.obolibrary.org/obo/HP_0030444	A melanoma that originates in the anal margin.
HP:0030445	Pulmonary carcinoid tumor	biolink:PhenotypicFeature	hp	SNOMEDCT_US:254627002|UMLS:C0280089		Pulmonary carcinoid tumour|Lung carcinoid tumor	http://purl.obolibrary.org/obo/HP_0030445	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	biolink:PhenotypicFeature	hp	UMLS:C4072942		Atypical pulmonary carcinoid tumour	http://purl.obolibrary.org/obo/HP_0030446	
HP:0030447	Merkel cell skin cancer	biolink:PhenotypicFeature	hp	MSH:D015266|SNOMEDCT_US:253001006|SNOMEDCT_US:254729005|SNOMEDCT_US:5052009|UMLS:C0007129		Anaplastic carcinoma of the skin|Cutaneous APUDoma|Merkel cell cancer of the skin|Neuroendocrine carcinoma of the skin|Neuroendocrine tumor of the skin|Primary small cell carcinoma of the skin|Primary undifferentiated carcinoma of the skin	http://purl.obolibrary.org/obo/HP_0030447	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	biolink:PhenotypicFeature	hp	MSH:D012509|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424413001|SNOMEDCT_US:424952003|UMLS:C1261473		Soft tissue sarcomas	http://purl.obolibrary.org/obo/HP_0030448	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	biolink:PhenotypicFeature	hp	MSH:D000032|SNOMEDCT_US:386641000|UMLS:C0000820			http://purl.obolibrary.org/obo/HP_0030449	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	Neuroplasm of the autonomic nervous system	biolink:PhenotypicFeature	hp	NCIT:C5112|UMLS:C4072943			http://purl.obolibrary.org/obo/HP_0030450	A tumor that arises from an element of the autonomic nervous system.
HP:0030451	Mesenteric cyst	biolink:PhenotypicFeature	hp	MSH:D008639|SNOMEDCT_US:253802003|SNOMEDCT_US:27970007|UMLS:C0025467			http://purl.obolibrary.org/obo/HP_0030451	A closed fluid filled sac originating from the mesentary.
HP:0030452	Chylolymphatic mesenteric cyst	biolink:PhenotypicFeature	hp	UMLS:C4072944			http://purl.obolibrary.org/obo/HP_0030452	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	biolink:PhenotypicFeature	hp	UMLS:C4072945			http://purl.obolibrary.org/obo/HP_0030453	
HP:0030454	Abnormal electrooculogram	biolink:PhenotypicFeature	hp	SNOMEDCT_US:442770004|UMLS:C0159104		Abnormal EOG	http://purl.obolibrary.org/obo/HP_0030454	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	biolink:PhenotypicFeature	hp	UMLS:C4072946			http://purl.obolibrary.org/obo/HP_0030455	
HP:0030456	Abnormality of pattern onset/offset visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072947		Abnormality of pattern onset/offset VEP	http://purl.obolibrary.org/obo/HP_0030456	
HP:0030457	Abnormal amplitude of pattern onset/offset visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072948		Abnormal amplitude of pattern onset/offset VEP	http://purl.obolibrary.org/obo/HP_0030457	
HP:0030458	Abnormal timing of pattern onset/offset visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072949			http://purl.obolibrary.org/obo/HP_0030458	
HP:0030460	Abnormal timing of pattern reversal visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072950			http://purl.obolibrary.org/obo/HP_0030460	
HP:0030461	Abnormal timing of flash visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072951			http://purl.obolibrary.org/obo/HP_0030461	
HP:0030462	Abnormal amplitude of flash visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072952			http://purl.obolibrary.org/obo/HP_0030462	
HP:0030463	Asymmetrical distribution of flash visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072953		Crossed asymmetry of flash visual evoked potentials	http://purl.obolibrary.org/obo/HP_0030463	
HP:0030464	Asymmetrical distribution of pattern reversal visual evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4072954		Crossed asymmetry of pattern reversal visual evoked potentials	http://purl.obolibrary.org/obo/HP_0030464	
HP:0030465	Undetectable light-adapted electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072955		Absent photopic (cone) responses on ERG|non-detectable photopic ERG	http://purl.obolibrary.org/obo/HP_0030465	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	biolink:PhenotypicFeature	hp	UMLS:C4072956			http://purl.obolibrary.org/obo/HP_0030466	
HP:0030467	Abnormal pattern electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072957			http://purl.obolibrary.org/obo/HP_0030467	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	biolink:PhenotypicFeature	hp	UMLS:C4072958			http://purl.obolibrary.org/obo/HP_0030468	
HP:0030469	Abnormal dark-adapted electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072959			http://purl.obolibrary.org/obo/HP_0030469	
HP:0030470	Abnormal dark-adapted bright flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072960			http://purl.obolibrary.org/obo/HP_0030470	
HP:0030471	Abnormal dark-adapted dim flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072961			http://purl.obolibrary.org/obo/HP_0030471	
HP:0030472	Abnormal light-adapted single flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072962			http://purl.obolibrary.org/obo/HP_0030472	
HP:0030473	Abnormal light-adapted flicker electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072963		Abnormal light-adapted 30Hz flicker ERG|Abnormal light-adapted flicker ERG|Abnormal light-adapted 30Hz flicker electroretinogram|Abnormal light-adapted flicker electroretinogram	http://purl.obolibrary.org/obo/HP_0030473	
HP:0030474	Undetectable dark-adapted electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072964			http://purl.obolibrary.org/obo/HP_0030474	
HP:0030475	Abnormal timing of dark-adapted dim flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072965			http://purl.obolibrary.org/obo/HP_0030475	
HP:0030476	Abnormal amplitude of dark-adapted dim flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072966			http://purl.obolibrary.org/obo/HP_0030476	
HP:0030477	Abnormal timing of dark-adapted bright flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072967			http://purl.obolibrary.org/obo/HP_0030477	
HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072968			http://purl.obolibrary.org/obo/HP_0030478	
HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072969			http://purl.obolibrary.org/obo/HP_0030479	
HP:0030480	Abnormal timing of light-adapted flicker electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072970			http://purl.obolibrary.org/obo/HP_0030480	
HP:0030481	Abnormal amplitude of light-adapted single flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072971			http://purl.obolibrary.org/obo/HP_0030481	
HP:0030482	Abnormal timing of light-adapted single flash electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072972			http://purl.obolibrary.org/obo/HP_0030482	
HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	biolink:PhenotypicFeature	hp	UMLS:C4072973			http://purl.obolibrary.org/obo/HP_0030483	An abnormal reduction in the amplitude of the a-wave.
HP:0030484	Supernormal dark-adapted bright flash electroretinogram b-wave	biolink:PhenotypicFeature	hp	UMLS:C4072974			http://purl.obolibrary.org/obo/HP_0030484	
HP:0030485	Abnormal amplitude of pattern electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072975			http://purl.obolibrary.org/obo/HP_0030485	
HP:0030486	Abnormal timing of pattern electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072976			http://purl.obolibrary.org/obo/HP_0030486	
HP:0030487	Abnormal P50/N95 ratio of pattern electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072977			http://purl.obolibrary.org/obo/HP_0030487	
HP:0030488	Abnormal central response of multifocal electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072978			http://purl.obolibrary.org/obo/HP_0030488	
HP:0030489	Abnormal paracentral response of multifocal electroretinogram	biolink:PhenotypicFeature	hp	UMLS:C4072979			http://purl.obolibrary.org/obo/HP_0030489	
HP:0030490	Exudative vitreoretinopathy	biolink:PhenotypicFeature	hp	UMLS:C4072980			http://purl.obolibrary.org/obo/HP_0030490	
HP:0030491	Choriocapillaris atrophy	biolink:PhenotypicFeature	hp	UMLS:C3275758			http://purl.obolibrary.org/obo/HP_0030491	Atrophy of the capillary lamina of choroid.
HP:0030493	Abnormality of foveal pigmentation	biolink:PhenotypicFeature	hp	UMLS:C4072981			http://purl.obolibrary.org/obo/HP_0030493	An anomaly of the pigmentation in the fovea centralis.
HP:0030494	Macular microaneurysm/hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C4072982			http://purl.obolibrary.org/obo/HP_0030494	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	biolink:PhenotypicFeature	hp	UMLS:C4072983		Abnormality of macular vasculature	http://purl.obolibrary.org/obo/HP_0030495	Any structural anomaly of the blood vessels of the macula.
HP:0030496	Macular exudate	biolink:PhenotypicFeature	hp	UMLS:C4072984		Macular exudates|Macular exudation	http://purl.obolibrary.org/obo/HP_0030496	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	biolink:PhenotypicFeature	hp	UMLS:C4072985			http://purl.obolibrary.org/obo/HP_0030497	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	biolink:PhenotypicFeature	hp	UMLS:C4072986			http://purl.obolibrary.org/obo/HP_0030498	Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.
HP:0030499	Macular drusen	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247154004|UMLS:C0677628		Lipid accumulation in macula	http://purl.obolibrary.org/obo/HP_0030499	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	biolink:PhenotypicFeature	hp	UMLS:C4072987			http://purl.obolibrary.org/obo/HP_0030500	
HP:0030501	Macular crystals	biolink:PhenotypicFeature	hp	UMLS:C4072988			http://purl.obolibrary.org/obo/HP_0030501	Crystalline deposits in the macula.
HP:0030502	Retinoschisis	biolink:PhenotypicFeature	hp	MSH:D041441|SNOMEDCT_US:44268007|UMLS:C0152439			http://purl.obolibrary.org/obo/HP_0030502	Splitting of the neuroretinal layers of the retina.
HP:0030503	Macular telangiectasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:232024000|UMLS:C0339480		Juxtafoveal telangiectasia|Parafoveal telangiectasia	http://purl.obolibrary.org/obo/HP_0030503	
HP:0030504	Grouped congenital hypertrophy of retinal pigment epithelium	biolink:PhenotypicFeature	hp	UMLS:C4072989		Bear track congenital hypertrophy of retinal pigment epithelium	http://purl.obolibrary.org/obo/HP_0030504	
HP:0030505	Nummular pigmentation of the fundus	biolink:PhenotypicFeature	hp	UMLS:C4072990		Nummular pigmentation of the retina	http://purl.obolibrary.org/obo/HP_0030505	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	biolink:PhenotypicFeature	hp	UMLS:C4072991			http://purl.obolibrary.org/obo/HP_0030506	
HP:0030507	Retinal crystals	biolink:PhenotypicFeature	hp	UMLS:C4072992			http://purl.obolibrary.org/obo/HP_0030507	Crystalline deposits in the retina.
HP:0030508	Retinal cavernous hemangioma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:312937006|UMLS:C0730304		Retinal cavernous haemangioma	http://purl.obolibrary.org/obo/HP_0030508	
HP:0030509	Retinal racemose hemangioma	biolink:PhenotypicFeature	hp	UMLS:C4072993		Retinal racemose haemangioma	http://purl.obolibrary.org/obo/HP_0030509	
HP:0030510	Combined hamartoma of the retinal pigment epithelium and retina	biolink:PhenotypicFeature	hp	UMLS:C1862062			http://purl.obolibrary.org/obo/HP_0030510	
HP:0030511	Bradyopsia	biolink:PhenotypicFeature	hp	MSH:C564243|SNOMEDCT_US:711163009|UMLS:C1842073		Difficulty seeing moving objects	http://purl.obolibrary.org/obo/HP_0030511	Difficulty in seeing moving objects.
HP:0030512	Difficulty adjusting to changes in luminance	biolink:PhenotypicFeature	hp	UMLS:C4072994			http://purl.obolibrary.org/obo/HP_0030512	
HP:0030513	Difficulty adjusting from light to dark	biolink:PhenotypicFeature	hp	UMLS:C4072995			http://purl.obolibrary.org/obo/HP_0030513	
HP:0030514	Difficulty adjusting from dark to light	biolink:PhenotypicFeature	hp	UMLS:C4072996			http://purl.obolibrary.org/obo/HP_0030514	
HP:0030515	Moderately reduced visual acuity	biolink:PhenotypicFeature	hp	SNOMEDCT_US:397542006|UMLS:C1301510		Moderate visual impairment|Moderate reduction in visual acuity|Moderate vision loss|Moderate visual loss	http://purl.obolibrary.org/obo/HP_0030515	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	biolink:PhenotypicFeature	hp	MSH:D006423|SNOMEDCT_US:34063005|UMLS:C0271202		Homonymous hemianopsia	http://purl.obolibrary.org/obo/HP_0030516	
HP:0030517	Heteronymous hemianopia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:344104004|SNOMEDCT_US:345121001|UMLS:C0271207		Heteronymous hemianopsia	http://purl.obolibrary.org/obo/HP_0030517	
HP:0030518	Congruous homonymous hemianopia	biolink:PhenotypicFeature	hp	UMLS:C4072997		Congruous hemianopsia	http://purl.obolibrary.org/obo/HP_0030518	
HP:0030519	Congruous heteronymous hemianopia	biolink:PhenotypicFeature	hp	UMLS:C4072998			http://purl.obolibrary.org/obo/HP_0030519	
HP:0030520	Binasal hemianopia	biolink:PhenotypicFeature	hp	MSH:D006423|SNOMEDCT_US:87278000|UMLS:C0271208			http://purl.obolibrary.org/obo/HP_0030520	
HP:0030521	Bitemporal hemianopia	biolink:PhenotypicFeature	hp	MSH:D006423|SNOMEDCT_US:61917005|UMLS:C0221184			http://purl.obolibrary.org/obo/HP_0030521	
HP:0030522	Mild constriction of peripheral visual field	biolink:PhenotypicFeature	hp	UMLS:C4072999		Mild peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030522	A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.
HP:0030523	obsolete Peripheral visual field constriction with 40-50 degrees central field preserved	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030523	
HP:0030524	obsolete Peripheral visual field constriction with 30-39 degrees central field preserved	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030524	
HP:0030525	Moderate constriction of peripheral visual field	biolink:PhenotypicFeature	hp	UMLS:C4073002		Moderate peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030525	Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.
HP:0030526	Severe constriction of peripheral visual field	biolink:PhenotypicFeature	hp	UMLS:C4073003		Severe peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030526	Peripheral visual field constriction with 10-19 degrees central field preserved.
HP:0030527	Very severe constriction of peripheral visual field	biolink:PhenotypicFeature	hp	UMLS:C4073004		Very severe peripheral visual field loss	http://purl.obolibrary.org/obo/HP_0030527	Peripheral visual field constriction with <10 degrees central field preserved.
HP:0030528	Paracentral scotoma	biolink:PhenotypicFeature	hp	MSH:D012607|SNOMEDCT_US:64418005|UMLS:C0271197			http://purl.obolibrary.org/obo/HP_0030528	
HP:0030529	Ring scotoma	biolink:PhenotypicFeature	hp	MSH:D012607|SNOMEDCT_US:129625005|UMLS:C0438434			http://purl.obolibrary.org/obo/HP_0030529	
HP:0030530	Arcuate scotoma	biolink:PhenotypicFeature	hp	MSH:D012607|SNOMEDCT_US:15462009|UMLS:C0271198|UMLS:C4280302		Arc-shaped blind spot	http://purl.obolibrary.org/obo/HP_0030530	
HP:0030531	Altitudinal visual field defect	biolink:PhenotypicFeature	hp	UMLS:C4073005			http://purl.obolibrary.org/obo/HP_0030531	
HP:0030532	Visual acuity test abnormality	biolink:PhenotypicFeature	hp	UMLS:C4073006			http://purl.obolibrary.org/obo/HP_0030532	
HP:0030533	Abnormal unaided visual acuity test	biolink:PhenotypicFeature	hp	UMLS:C4073007			http://purl.obolibrary.org/obo/HP_0030533	
HP:0030534	Abnormal best corrected visual acuity test	biolink:PhenotypicFeature	hp	UMLS:C4073008			http://purl.obolibrary.org/obo/HP_0030534	
HP:0030535	Abnormal pinhole visual acuity test	biolink:PhenotypicFeature	hp	UMLS:C4073009			http://purl.obolibrary.org/obo/HP_0030535	
HP:0030536	Unaided visual acuity 0.1 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073010			http://purl.obolibrary.org/obo/HP_0030536	
HP:0030537	Unaided visual acuity 0.2 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073011			http://purl.obolibrary.org/obo/HP_0030537	
HP:0030538	Unaided visual acuity 0.3 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073012			http://purl.obolibrary.org/obo/HP_0030538	
HP:0030539	Unaided visual acuity 0.4 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073013			http://purl.obolibrary.org/obo/HP_0030539	
HP:0030540	Unaided visual acuity 0.5 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073014			http://purl.obolibrary.org/obo/HP_0030540	
HP:0030541	Unaided visual acuity 0.6 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073015			http://purl.obolibrary.org/obo/HP_0030541	
HP:0030542	Unaided visual acuity 0.7 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073016			http://purl.obolibrary.org/obo/HP_0030542	
HP:0030543	Unaided visual acuity 0.8 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073017			http://purl.obolibrary.org/obo/HP_0030543	
HP:0030544	Unaided visual acuity 0.9 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073018			http://purl.obolibrary.org/obo/HP_0030544	
HP:0030545	Unaided visual acuity 1.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073019			http://purl.obolibrary.org/obo/HP_0030545	
HP:0030546	Unaided visual acuity 1.1 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073020			http://purl.obolibrary.org/obo/HP_0030546	
HP:0030547	Unaided visual acuity 1.2 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073021			http://purl.obolibrary.org/obo/HP_0030547	
HP:0030548	Unaided visual acuity 1.3 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073022			http://purl.obolibrary.org/obo/HP_0030548	
HP:0030549	Unaided visual acuity 2.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073023			http://purl.obolibrary.org/obo/HP_0030549	
HP:0030550	Unaided visual acuity 3.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073024			http://purl.obolibrary.org/obo/HP_0030550	
HP:0030551	Visual acuity light perception with projection	biolink:PhenotypicFeature	hp	UMLS:C4073025			http://purl.obolibrary.org/obo/HP_0030551	
HP:0030552	Visual acuity light perception without projection	biolink:PhenotypicFeature	hp	UMLS:C4073026			http://purl.obolibrary.org/obo/HP_0030552	
HP:0030553	Visual acuity no light perception	biolink:PhenotypicFeature	hp	SNOMEDCT_US:63063006|UMLS:C0442774			http://purl.obolibrary.org/obo/HP_0030553	
HP:0030554	Best corrected visual acuity 0.1 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073027			http://purl.obolibrary.org/obo/HP_0030554	
HP:0030555	Best corrected visual acuity 0.2 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073028			http://purl.obolibrary.org/obo/HP_0030555	
HP:0030556	Best corrected visual acuity 0.3 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073029			http://purl.obolibrary.org/obo/HP_0030556	
HP:0030557	Best corrected visual acuity 0.4 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073030			http://purl.obolibrary.org/obo/HP_0030557	
HP:0030558	Best corrected visual acuity 0.5 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073031			http://purl.obolibrary.org/obo/HP_0030558	
HP:0030559	Best corrected visual acuity 0.7 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073032			http://purl.obolibrary.org/obo/HP_0030559	
HP:0030560	Best corrected visual acuity 0.6 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073033			http://purl.obolibrary.org/obo/HP_0030560	
HP:0030561	Best corrected visual acuity 0.8 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073034			http://purl.obolibrary.org/obo/HP_0030561	
HP:0030562	Best corrected visual acuity 0.9 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073035			http://purl.obolibrary.org/obo/HP_0030562	
HP:0030563	Best corrected visual acuity 1.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073036			http://purl.obolibrary.org/obo/HP_0030563	
HP:0030564	Best corrected visual acuity 1.1 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073037			http://purl.obolibrary.org/obo/HP_0030564	
HP:0030565	Best corrected visual acuity 1.2 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073038			http://purl.obolibrary.org/obo/HP_0030565	
HP:0030566	Best corrected visual acuity 1.3 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073039			http://purl.obolibrary.org/obo/HP_0030566	
HP:0030567	Best corrected visual acuity 2.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073040			http://purl.obolibrary.org/obo/HP_0030567	
HP:0030568	Best corrected visual acuity 3.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073041			http://purl.obolibrary.org/obo/HP_0030568	
HP:0030569	Pinhole visual acuity 0.1 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073042			http://purl.obolibrary.org/obo/HP_0030569	
HP:0030570	Pinhole visual acuity 0.2 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073043			http://purl.obolibrary.org/obo/HP_0030570	
HP:0030571	Pinhole visual acuity 0.3 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073044			http://purl.obolibrary.org/obo/HP_0030571	
HP:0030572	Pinhole visual acuity 0.4 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073045			http://purl.obolibrary.org/obo/HP_0030572	
HP:0030573	Pinhole visual acuity 0.5 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073046			http://purl.obolibrary.org/obo/HP_0030573	
HP:0030574	Pinhole visual acuity 0.6 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073047			http://purl.obolibrary.org/obo/HP_0030574	
HP:0030575	Pinhole visual acuity 0.7 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073048			http://purl.obolibrary.org/obo/HP_0030575	
HP:0030576	Pinhole visual acuity 0.8 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073049			http://purl.obolibrary.org/obo/HP_0030576	
HP:0030577	Pinhole visual acuity 0.9 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073050			http://purl.obolibrary.org/obo/HP_0030577	
HP:0030578	Pinhole visual acuity 1.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073051			http://purl.obolibrary.org/obo/HP_0030578	
HP:0030579	Pinhole visual acuity 1.1 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073052			http://purl.obolibrary.org/obo/HP_0030579	
HP:0030580	Pinhole visual acuity 1.2 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073053			http://purl.obolibrary.org/obo/HP_0030580	
HP:0030581	Pinhole visual acuity 1.3 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073054			http://purl.obolibrary.org/obo/HP_0030581	
HP:0030582	Pinhole visual acuity 2.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073055			http://purl.obolibrary.org/obo/HP_0030582	
HP:0030583	Pinhole visual acuity 3.0 LogMAR	biolink:PhenotypicFeature	hp	UMLS:C4073056			http://purl.obolibrary.org/obo/HP_0030583	
HP:0030584	Color vision test abnormality	biolink:PhenotypicFeature	hp	UMLS:C4073057		Colour vision test abnormality	http://purl.obolibrary.org/obo/HP_0030584	
HP:0030585	Red desaturation	biolink:PhenotypicFeature	hp	UMLS:C4073058			http://purl.obolibrary.org/obo/HP_0030585	
HP:0030586	Abnormal Ishihara plate test	biolink:PhenotypicFeature	hp	UMLS:C4073059			http://purl.obolibrary.org/obo/HP_0030586	
HP:0030587	Abnormal Hardy-Rand-Rittler plate test	biolink:PhenotypicFeature	hp	UMLS:C4073060			http://purl.obolibrary.org/obo/HP_0030587	
HP:0030588	Abnormal visual field test	biolink:PhenotypicFeature	hp	UMLS:C0854021			http://purl.obolibrary.org/obo/HP_0030588	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	biolink:PhenotypicFeature	hp	UMLS:C4073061			http://purl.obolibrary.org/obo/HP_0030589	
HP:0030590	Abnormal Amsler grid test	biolink:PhenotypicFeature	hp	UMLS:C4073062			http://purl.obolibrary.org/obo/HP_0030590	
HP:0030591	Abnormal kinetic perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073063			http://purl.obolibrary.org/obo/HP_0030591	
HP:0030592	Abnormal static perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073064			http://purl.obolibrary.org/obo/HP_0030592	
HP:0030593	Abnormal manual kinetic perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073065			http://purl.obolibrary.org/obo/HP_0030593	
HP:0030594	Abnormal automated kinetic perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073066			http://purl.obolibrary.org/obo/HP_0030594	
HP:0030595	Abnormal static automated perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073067			http://purl.obolibrary.org/obo/HP_0030595	
HP:0030596	Abnormal Humphrey SITA 30-2 perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073068			http://purl.obolibrary.org/obo/HP_0030596	
HP:0030597	Abnormal Humphrey SITA 24-2 perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073069			http://purl.obolibrary.org/obo/HP_0030597	
HP:0030598	Abnormal Humphrey SITA 10-2 perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073070			http://purl.obolibrary.org/obo/HP_0030598	
HP:0030599	Abnormal Estermann grid perimetry test	biolink:PhenotypicFeature	hp	UMLS:C4073071			http://purl.obolibrary.org/obo/HP_0030599	
HP:0030601	Abnormal posterior segment imaging	biolink:PhenotypicFeature	hp	UMLS:C4073072			http://purl.obolibrary.org/obo/HP_0030601	
HP:0030602	Abnormal fundus autofluorescence imaging	biolink:PhenotypicFeature	hp	UMLS:C4073073			http://purl.obolibrary.org/obo/HP_0030602	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	biolink:PhenotypicFeature	hp	UMLS:C3665728			http://purl.obolibrary.org/obo/HP_0030603	
HP:0030604	Abnormal fundus fluorescein angiography	biolink:PhenotypicFeature	hp	UMLS:C4073074			http://purl.obolibrary.org/obo/HP_0030604	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	biolink:PhenotypicFeature	hp	UMLS:C4073075			http://purl.obolibrary.org/obo/HP_0030605	
HP:0030606	Abnormal OCT-measured macular thickness	biolink:PhenotypicFeature	hp	UMLS:C4073076			http://purl.obolibrary.org/obo/HP_0030606	
HP:0030607	Reduced OCT-measured macular thickness	biolink:PhenotypicFeature	hp	UMLS:C4073077			http://purl.obolibrary.org/obo/HP_0030607	
HP:0030608	Increased OCT-measured macular thickness	biolink:PhenotypicFeature	hp	UMLS:C4073078			http://purl.obolibrary.org/obo/HP_0030608	
HP:0030609	Photoreceptor layer loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073079			http://purl.obolibrary.org/obo/HP_0030609	Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.
HP:0030610	Photoreceptor outer segment loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073080			http://purl.obolibrary.org/obo/HP_0030610	
HP:0030611	Retinal pigment epithelial loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073081			http://purl.obolibrary.org/obo/HP_0030611	
HP:0030612	Abnormal retinal morphology on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073082			http://purl.obolibrary.org/obo/HP_0030612	
HP:0030613	Abnormal foveal morphology on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073083			http://purl.obolibrary.org/obo/HP_0030613	
HP:0030614	Foveal photoreceptor layer loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073084			http://purl.obolibrary.org/obo/HP_0030614	
HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073085			http://purl.obolibrary.org/obo/HP_0030615	
HP:0030616	Foveal retinal pigment epithelial loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073086			http://purl.obolibrary.org/obo/HP_0030616	
HP:0030617	Abnormal OCT-measured foveal thickness	biolink:PhenotypicFeature	hp	UMLS:C4073087			http://purl.obolibrary.org/obo/HP_0030617	
HP:0030618	Increased OCT-measured foveal thickness	biolink:PhenotypicFeature	hp	UMLS:C4073088			http://purl.obolibrary.org/obo/HP_0030618	
HP:0030619	Reduced OCT-measured foveal thickness	biolink:PhenotypicFeature	hp	UMLS:C4073089			http://purl.obolibrary.org/obo/HP_0030619	
HP:0030620	Inner retinal layer loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073090			http://purl.obolibrary.org/obo/HP_0030620	
HP:0030621	Foveal inner retinal layer loss on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073091			http://purl.obolibrary.org/obo/HP_0030621	
HP:0030622	Abnormal foveal pit on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073092			http://purl.obolibrary.org/obo/HP_0030622	
HP:0030623	Intraretinal hyporeflective spaces on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073093			http://purl.obolibrary.org/obo/HP_0030623	
HP:0030624	Subretinal hyporeflective spaces on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073094			http://purl.obolibrary.org/obo/HP_0030624	
HP:0030625	Hyporeflective spaces on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073095			http://purl.obolibrary.org/obo/HP_0030625	
HP:0030626	Foveal intraretinal hyporeflective spaces on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073096			http://purl.obolibrary.org/obo/HP_0030626	
HP:0030627	Foveal hyporeflective spaces on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073097			http://purl.obolibrary.org/obo/HP_0030627	
HP:0030628	Foveal subretinal hyporeflective spaces on macular OCT	biolink:PhenotypicFeature	hp	UMLS:C4073098			http://purl.obolibrary.org/obo/HP_0030628	
HP:0030629	Perifoveal ring of hyperautofluorescence	biolink:PhenotypicFeature	hp	UMLS:C4073099			http://purl.obolibrary.org/obo/HP_0030629	
HP:0030630	Irregular central macular autofluorescence	biolink:PhenotypicFeature	hp	UMLS:C4073100			http://purl.obolibrary.org/obo/HP_0030630	
HP:0030631	Hyperautofluorescent macular lesion	biolink:PhenotypicFeature	hp	UMLS:C4073101			http://purl.obolibrary.org/obo/HP_0030631	Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
HP:0030632	Hypoautofluorescent macular lesion	biolink:PhenotypicFeature	hp	UMLS:C4073102		Hypo-autofluorescent macular lesion	http://purl.obolibrary.org/obo/HP_0030632	Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
HP:0030633	Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence	biolink:PhenotypicFeature	hp	UMLS:C4073103			http://purl.obolibrary.org/obo/HP_0030633	
HP:0030634	Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence	biolink:PhenotypicFeature	hp	UMLS:C4073104			http://purl.obolibrary.org/obo/HP_0030634	
HP:0030635	Retinal dystrophy with early macular involvement	biolink:PhenotypicFeature	hp	UMLS:C4049066			http://purl.obolibrary.org/obo/HP_0030635	
HP:0030636	Occult macular dystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030636	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	biolink:PhenotypicFeature	hp	UMLS:C0543968		Cone dysfunction|Cone dysfunction syndrome	http://purl.obolibrary.org/obo/HP_0030637	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	biolink:PhenotypicFeature	hp	UMLS:C4073105			http://purl.obolibrary.org/obo/HP_0030638	
HP:0030639	Congenital stationary night blindness with abnormal fundus	biolink:PhenotypicFeature	hp	UMLS:C4073106			http://purl.obolibrary.org/obo/HP_0030639	
HP:0030640	Complete congenital stationary night blindness	biolink:PhenotypicFeature	hp	UMLS:C4048798			http://purl.obolibrary.org/obo/HP_0030640	
HP:0030641	Incomplete congenital stationary night blindness	biolink:PhenotypicFeature	hp	UMLS:C4073107			http://purl.obolibrary.org/obo/HP_0030641	
HP:0030642	Fundus albipunctatus	biolink:PhenotypicFeature	hp	MSH:C562733|SNOMEDCT_US:68222009|UMLS:C0311338			http://purl.obolibrary.org/obo/HP_0030642	
HP:0030643	Vitelliform-like retinal lesions	biolink:PhenotypicFeature	hp	UMLS:C4073108			http://purl.obolibrary.org/obo/HP_0030643	
HP:0030644	Blind-spot enlargment	biolink:PhenotypicFeature	hp	UMLS:C4073109		Blind spot enlargment	http://purl.obolibrary.org/obo/HP_0030644	
HP:0030645	Central	biolink:PhenotypicFeature	hp	SNOMEDCT_US:26216008|UMLS:C0205099			http://purl.obolibrary.org/obo/HP_0030645	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14414005|UMLS:C0205100			http://purl.obolibrary.org/obo/HP_0030646	
HP:0030647	Paracentral	biolink:PhenotypicFeature	hp	UMLS:C4073110			http://purl.obolibrary.org/obo/HP_0030647	
HP:0030648	Midperipheral	biolink:PhenotypicFeature	hp	UMLS:C4073111		Mid-peripheral	http://purl.obolibrary.org/obo/HP_0030648	
HP:0030649	Pericentral	biolink:PhenotypicFeature	hp	UMLS:C4073112			http://purl.obolibrary.org/obo/HP_0030649	
HP:0030650	Focal	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87017008|UMLS:C0205234			http://purl.obolibrary.org/obo/HP_0030650	
HP:0030651	Multifocal	biolink:PhenotypicFeature	hp	SNOMEDCT_US:524008|UMLS:C0205292			http://purl.obolibrary.org/obo/HP_0030651	
HP:0030652	Vitreous haze	biolink:PhenotypicFeature	hp	UMLS:C4073113			http://purl.obolibrary.org/obo/HP_0030652	Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.
HP:0030654	Umbilical cord cyst	biolink:PhenotypicFeature	hp	UMLS:C4073114			http://purl.obolibrary.org/obo/HP_0030654	Any cystic lesion associated with the umbilical cord.
HP:0030655	Umbilical cord knot	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237309005|UMLS:C0344363			http://purl.obolibrary.org/obo/HP_0030655	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	biolink:PhenotypicFeature	hp	UMLS:C4073115			http://purl.obolibrary.org/obo/HP_0030656	Focal dilation of the umbilical vein.
HP:0030657	Umbilical cord hematoma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:86256001|UMLS:C0269855		Umbilical cord haematoma	http://purl.obolibrary.org/obo/HP_0030657	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:51519001|UMLS:C0266788		Marginal cord insertion	http://purl.obolibrary.org/obo/HP_0030658	Insertion of the umbilical cord within 2 cm from the placental edge.
HP:0030659	Velamentous cord insertion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77278008|UMLS:C0266789			http://purl.obolibrary.org/obo/HP_0030659	Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.
HP:0030660	Furcate cord insertion	biolink:PhenotypicFeature	hp	UMLS:C4073116			http://purl.obolibrary.org/obo/HP_0030660	Branching of the umbilical cord before its insertion into the placenta.
HP:0030661	Vitreous snowballs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:417393008|UMLS:C1563272			http://purl.obolibrary.org/obo/HP_0030661	Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.
HP:0030662	Vitreous inflammatory cells	biolink:PhenotypicFeature	hp	UMLS:C4073117			http://purl.obolibrary.org/obo/HP_0030662	The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.
HP:0030663	Optically empty vitreous	biolink:PhenotypicFeature	hp	UMLS:C4073118			http://purl.obolibrary.org/obo/HP_0030663	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:61282003|UMLS:C0231616			http://purl.obolibrary.org/obo/HP_0030664	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	biolink:PhenotypicFeature	hp	MSH:D001259|UMLS:C0750940		Holmes' tremor	http://purl.obolibrary.org/obo/HP_0030665	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	biolink:PhenotypicFeature	hp	MSH:D015861|SNOMEDCT_US:61267008|UMLS:C0035320		Retinal neovascularisation	http://purl.obolibrary.org/obo/HP_0030666	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247100001|UMLS:C0474355			http://purl.obolibrary.org/obo/HP_0030667	A type of retinal neovascularization that affects the periphery of the retina.
HP:0030668	Periorbital dermoid cyst	biolink:PhenotypicFeature	hp	UMLS:C4073119			http://purl.obolibrary.org/obo/HP_0030668	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	biolink:PhenotypicFeature	hp	UMLS:C4073120			http://purl.obolibrary.org/obo/HP_0030669	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	biolink:PhenotypicFeature	hp	UMLS:C4073121			http://purl.obolibrary.org/obo/HP_0030670	A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.
HP:0030671	Abnormal common tendinous ring morphology	biolink:PhenotypicFeature	hp	UMLS:C4073122		Abnormality of the common tendinous ring	http://purl.obolibrary.org/obo/HP_0030671	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95800001|UMLS:C0521770			http://purl.obolibrary.org/obo/HP_0030672	The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.
HP:0030673	Erosive vitreoretinopathy	biolink:PhenotypicFeature	hp	MSH:C536075|SNOMEDCT_US:232064001|UMLS:C1840452			http://purl.obolibrary.org/obo/HP_0030673	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	biolink:PhenotypicFeature	hp	UMLS:C2673646			http://purl.obolibrary.org/obo/HP_0030674	Onset prior to birth.
HP:0030675	Contracture of proximal interphalangeal joints of 2nd-5th fingers	biolink:PhenotypicFeature	hp	UMLS:C4073123			http://purl.obolibrary.org/obo/HP_0030675	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	biolink:PhenotypicFeature	hp	UMLS:C4048833		Devil ear	http://purl.obolibrary.org/obo/HP_0030676	Sharp pointed superior portion of the ear, with variable overfolding of the helix.
HP:0030677	Mozart ear	biolink:PhenotypicFeature	hp	UMLS:C4073124			http://purl.obolibrary.org/obo/HP_0030677	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	biolink:PhenotypicFeature	hp	UMLS:C4073125			http://purl.obolibrary.org/obo/HP_0030679	A hypopigmented spot in the shape of a leaf from the mountain ash tree.
HP:0030680	Abnormality of cardiovascular system morphology	biolink:PhenotypicFeature	hp	UMLS:C4049796		Cardiovascular malformations	http://purl.obolibrary.org/obo/HP_0030680	Any structural anomaly of the heart and great vessels.
HP:0030681	Abnormal morphology of myocardial trabeculae	biolink:PhenotypicFeature	hp	UMLS:C4073289			http://purl.obolibrary.org/obo/HP_0030681	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	biolink:PhenotypicFeature	hp	UMLS:C1960469			http://purl.obolibrary.org/obo/HP_0030682	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	biolink:PhenotypicFeature	hp	MSH:D014627|SNOMEDCT_US:30800001|UMLS:C0042267		Vulvovaginitis	http://purl.obolibrary.org/obo/HP_0030683	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	biolink:PhenotypicFeature	hp	UMLS:C4073126			http://purl.obolibrary.org/obo/HP_0030684	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	biolink:PhenotypicFeature	hp	UMLS:C4073127			http://purl.obolibrary.org/obo/HP_0030685	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	biolink:PhenotypicFeature	hp	UMLS:C4073128			http://purl.obolibrary.org/obo/HP_0030686	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	biolink:PhenotypicFeature	hp	UMLS:C4073129			http://purl.obolibrary.org/obo/HP_0030687	A deviation from the normal concentration of glucagon in the blood circulation.
HP:0030688	Increased glucagon level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:131106002|UMLS:C1295677			http://purl.obolibrary.org/obo/HP_0030688	An elevated concentration of glucagon in the blood circulation.
HP:0030689	Decreased glucagon level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:131107006|UMLS:C1295678			http://purl.obolibrary.org/obo/HP_0030689	A reduced concentration of glucagon in the blood circulation.
HP:0030690	Gingival cleft	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109622003|UMLS:C0426489			http://purl.obolibrary.org/obo/HP_0030690	A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.
HP:0030691	Divergence nystagmus	biolink:PhenotypicFeature	hp	UMLS:C4073130			http://purl.obolibrary.org/obo/HP_0030691	A condition in which both eyes beat outward simultaneously.
HP:0030692	Brain neoplasm	biolink:PhenotypicFeature	hp	MSH:D001932|NCIT:C2907|SNOMEDCT_US:126952004|SNOMEDCT_US:254935002|UMLS:C0006118		Brain tumor|Brain tumour	http://purl.obolibrary.org/obo/HP_0030692	A benign or malignant neoplasm that arises from or metastasizes to the brain.
HP:0030693	Supratentorial neoplasm	biolink:PhenotypicFeature	hp	MSH:D010871|MSH:D015173|NCIT:C3328|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941|UMLS:C0038874		Pineal parenchymal tumor|Pineal parenchymal tumour	http://purl.obolibrary.org/obo/HP_0030693	A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.
HP:0030694	Pineal parenchymal cell neoplasm	biolink:PhenotypicFeature	hp	MSH:D010871|SNOMEDCT_US:127026004|SNOMEDCT_US:359619007|SNOMEDCT_US:47598005|UMLS:C0031941			http://purl.obolibrary.org/obo/HP_0030694	
HP:0030706	Ranula	biolink:PhenotypicFeature	hp	MSH:D011900|SNOMEDCT_US:14919007|UMLS:C2242813		Sublingual cyst|Sublingual ptyalocele	http://purl.obolibrary.org/obo/HP_0030706	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	biolink:PhenotypicFeature	hp	MSH:C562992|UMLS:C4082952		Unilateral pulmonary agenesis	http://purl.obolibrary.org/obo/HP_0030707	Lack of development of one lung.
HP:0030708	Myeloschisis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:360530005|UMLS:C0266507			http://purl.obolibrary.org/obo/HP_0030708	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	biolink:PhenotypicFeature	hp	MSH:D008591|SNOMEDCT_US:203994003|SNOMEDCT_US:414667000|UMLS:C0025312			http://purl.obolibrary.org/obo/HP_0030709	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253120005|UMLS:C0431344			http://purl.obolibrary.org/obo/HP_0030710	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	biolink:PhenotypicFeature	hp	MSH:D052202|UMLS:C1399870			http://purl.obolibrary.org/obo/HP_0030711	Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.
HP:0030712	Uterine synechiae	biolink:PhenotypicFeature	hp	MSH:D006175|SNOMEDCT_US:48236007|UMLS:C0156372		Asherman syndrome	http://purl.obolibrary.org/obo/HP_0030712	Adhesions or scar tissue that form inside the cavity of the uterus.
HP:0030713	Vein of Galen aneurysmal malformation	biolink:PhenotypicFeature	hp	MSH:C536535|SNOMEDCT_US:253194008|UMLS:C0431420		Median prosencephalic arteriovenous fistula|Vein of Galen aneurysm|Vein of Galen malformation	http://purl.obolibrary.org/obo/HP_0030713	Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.
HP:0030714	Subchorionic thrombohematoma	biolink:PhenotypicFeature	hp	UMLS:C1390676		Breus' mole	http://purl.obolibrary.org/obo/HP_0030714	A large maternal clot that separates the chorionic plate from the villous chorion.
HP:0030715	Bronchial atresia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:50513008|UMLS:C0265776		Congenital bronchial atresia	http://purl.obolibrary.org/obo/HP_0030715	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	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:203923004|UMLS:C0702169			http://purl.obolibrary.org/obo/HP_0030716	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:57341009|UMLS:C0270250			http://purl.obolibrary.org/obo/HP_0030717	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	biolink:PhenotypicFeature	hp	Fyler:1771|Fyler:2859|SNOMEDCT_US:67751000119106|UMLS:C0748427		Dilated right atrium|Enlarged heart right atrium|Right atrial dilatation	http://purl.obolibrary.org/obo/HP_0030718	Increase in size of the right atrium.
HP:0030719	Unguarded tricuspid valve	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253381001|UMLS:C0344745		Rudimentary tricuspid valve leaflets|Unguarded tricuspid valve orifice	http://purl.obolibrary.org/obo/HP_0030719	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	biolink:PhenotypicFeature	hp	UMLS:C4280801			http://purl.obolibrary.org/obo/HP_0030720	Cyst on the surface of the placenta consisting of amnion and chorion.
HP:0030721	Tetraphocomelia	biolink:PhenotypicFeature	hp	UMLS:C1849370			http://purl.obolibrary.org/obo/HP_0030721	Phocomelia involving all four extremities.
HP:0030722	Ectopic liver	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253813000|UMLS:C0431603			http://purl.obolibrary.org/obo/HP_0030722	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	biolink:PhenotypicFeature	hp	UMLS:C4280800			http://purl.obolibrary.org/obo/HP_0030723	Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.
HP:0030724	Central nervous system cyst	biolink:PhenotypicFeature	hp	MSH:D020863|SNOMEDCT_US:277333006|UMLS:C0349606		CNS cyst|Cyst of the central nervous system	http://purl.obolibrary.org/obo/HP_0030724	A fluid-filled sac (cyst) located within the central nervous system.
HP:0030725	Neurenteric cyst	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:253127008|SNOMEDCT_US:41353005|UMLS:C0027806			http://purl.obolibrary.org/obo/HP_0030725	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	biolink:PhenotypicFeature	hp	UMLS:C4280799			http://purl.obolibrary.org/obo/HP_0030726	A neurenteric cyst located in the spine.
HP:0030727	Intracranial neurenteric cyst	biolink:PhenotypicFeature	hp	UMLS:C4280680			http://purl.obolibrary.org/obo/HP_0030727	A neurenteric cyst located within the skull.
HP:0030728	Meromelia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:60220000|UMLS:C0265549			http://purl.obolibrary.org/obo/HP_0030728	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	biolink:PhenotypicFeature	hp	UMLS:C4280798		Frontoethmoid meningocele	http://purl.obolibrary.org/obo/HP_0030729	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	biolink:PhenotypicFeature	hp	UMLS:C4280797			http://purl.obolibrary.org/obo/HP_0030730	A herniation of meninges through a congenital bone defect in the skull in the parietal region.
HP:0030731	Carcinoma	biolink:PhenotypicFeature	hp	MSH:D002277|NCIT:C2916|SNOMEDCT_US:68453008|UMLS:C0007097			http://purl.obolibrary.org/obo/HP_0030731	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	biolink:PhenotypicFeature	hp	UMLS:C4255215		Tricuspid valve dysplasia	http://purl.obolibrary.org/obo/HP_0030732	A congenital malformation of the tricuspid valve characterized by leaflet deformation.
HP:0030733	Vesicoallantoic abdominal wall defect	biolink:PhenotypicFeature	hp	UMLS:C4280796			http://purl.obolibrary.org/obo/HP_0030733	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	biolink:PhenotypicFeature	hp	UMLS:C2609249			http://purl.obolibrary.org/obo/HP_0030735	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:281561000|UMLS:C0559459			http://purl.obolibrary.org/obo/HP_0030736	A teratoma arising in the sacro-coccygeal region.
HP:0030737	Altman type I sacrococcygeal teratoma	biolink:PhenotypicFeature	hp	UMLS:C4280795			http://purl.obolibrary.org/obo/HP_0030737	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	biolink:PhenotypicFeature	hp	UMLS:C4280794			http://purl.obolibrary.org/obo/HP_0030738	A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.
HP:0030739	Altman type III sacrococcygeal teratoma	biolink:PhenotypicFeature	hp	UMLS:C4280793			http://purl.obolibrary.org/obo/HP_0030739	A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.
HP:0030740	Anomalous muscle bundle of the right ventricle	biolink:PhenotypicFeature	hp	UMLS:C4280792		Right ventricular anomalous muscle bundle	http://purl.obolibrary.org/obo/HP_0030740	An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.
HP:0030741	Mediastinal teratoma	biolink:PhenotypicFeature	hp	NCIT:C6438|UMLS:C1334682		Teratoma of the mediastinum	http://purl.obolibrary.org/obo/HP_0030741	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:370483001|UMLS:C1299892		Mittendorf dot	http://purl.obolibrary.org/obo/HP_0030742	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	biolink:PhenotypicFeature	hp	UMLS:C4280791		Bergmeister papilla	http://purl.obolibrary.org/obo/HP_0030743	Persistance of a posterior remnant of the hyaloid artery located at the optic disc.
HP:0030744	Hyaloid vascular remnant and retrolental mass	biolink:PhenotypicFeature	hp	UMLS:C4280790			http://purl.obolibrary.org/obo/HP_0030744	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:233990006|UMLS:C0398357		Congenital ductus arteriosus aneurysm|Ductus arteriosus aneurysm	http://purl.obolibrary.org/obo/HP_0030745	A saccular or fusiform dilation and elongation of the ductus arteriosus.
HP:0030746	Intraventricular hemorrhage	biolink:PhenotypicFeature	hp	SNOMEDCT_US:23276006|UMLS:C0240059		Intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030746	Bleeding into the ventricles of the brain.
HP:0030747	Preterm intraventricular hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C4280789		Preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030747	Intraventricular hemorrhage that occurs in a premature infant.
HP:0030748	Grade I preterm intraventricular hemorrhage	biolink:PhenotypicFeature	hp	SNOMEDCT_US:276650005|UMLS:C0475737		Grade I preterm intraventricular haemorrhage|Germinal matrix hemorrhage	http://purl.obolibrary.org/obo/HP_0030748	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	biolink:PhenotypicFeature	hp	UMLS:C4280788		Grade II preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030749	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	biolink:PhenotypicFeature	hp	UMLS:C4280787		Grade III preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030750	Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.
HP:0030751	Grade IV preterm intraventricular hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C4280786		Grade IV preterm intraventricular haemorrhage	http://purl.obolibrary.org/obo/HP_0030751	Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.
HP:0030752	Dacryocystocele	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42758002|UMLS:C0155241		Timo cyst	http://purl.obolibrary.org/obo/HP_0030752	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	biolink:PhenotypicFeature	hp	UMLS:C4280785		Intrauterine foetal demise of one twin after midgestation|Single-twin demise	http://purl.obolibrary.org/obo/HP_0030753	Loss of one twin occurring after midgestation (17 weeks gestation).
HP:0030754	Allantoic cyst	biolink:PhenotypicFeature	hp	MSH:D014496|SNOMEDCT_US:17234001|UMLS:C0041915			http://purl.obolibrary.org/obo/HP_0030754	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	biolink:PhenotypicFeature	hp	NCIT:C3403|UMLS:C4280784			http://purl.obolibrary.org/obo/HP_0030755	A teratoma located in the craniofacial region.
HP:0030756	Erythrodontia	biolink:PhenotypicFeature	hp	UMLS:C4280783		Red teeth	http://purl.obolibrary.org/obo/HP_0030756	Reddish, brown opalescent discoloration of teeth in normal light.
HP:0030757	Tooth abscess	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299709002|UMLS:C0518988		Dental abscess|Dentoalveolar abscess	http://purl.obolibrary.org/obo/HP_0030757	A pocket of pus located within a region of a tooth.
HP:0030758	Periapical tooth abscess	biolink:PhenotypicFeature	hp	UMLS:C4280782			http://purl.obolibrary.org/obo/HP_0030758	A tooth abscess that occurs at the tip of the root (apex) of a tooth.
HP:0030759	Adipocyte hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4280781		Fat cell hypertrophy	http://purl.obolibrary.org/obo/HP_0030759	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197660000|UMLS:C0151650		Kidney fibrosis	http://purl.obolibrary.org/obo/HP_0030760	Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.
HP:0030761	obsolete Renal glomerular fibrosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030761	
HP:0030762	Mesangiolysis	biolink:PhenotypicFeature	hp	UMLS:C4054531			http://purl.obolibrary.org/obo/HP_0030762	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	biolink:PhenotypicFeature	hp	UMLS:C4280779		Amniotic shelf	http://purl.obolibrary.org/obo/HP_0030763	A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.
HP:0030764	Ochronosis	biolink:PhenotypicFeature	hp	MSH:D009794|SNOMEDCT_US:410042009|UMLS:C0028817			http://purl.obolibrary.org/obo/HP_0030764	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	biolink:PhenotypicFeature	hp	MSH:D020184|SNOMEDCT_US:89675003|UMLS:C0037320		Night terror|Pavor nocturnus|Sleep terrors	http://purl.obolibrary.org/obo/HP_0030765	Episodes of intense fear, screaming and flailing although affected individuals are still asleep.
HP:0030766	Ear pain	biolink:PhenotypicFeature	hp	MSH:D004433|SNOMEDCT_US:16001004|SNOMEDCT_US:162356005|UMLS:C0013456		Ear pain|Pain in the ear|Otalgia	http://purl.obolibrary.org/obo/HP_0030766	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:31248004|UMLS:C0266725			http://purl.obolibrary.org/obo/HP_0030767	Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.
HP:0030769	Exencephaly	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:84461004|UMLS:C0266453			http://purl.obolibrary.org/obo/HP_0030769	A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.
HP:0030770	Craniorachischisis	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:32219008|UMLS:C0152426			http://purl.obolibrary.org/obo/HP_0030770	A neural tube defect in which both the brain and spinal cord remain open to varying degrees.
HP:0030771	Mallet finger	biolink:PhenotypicFeature	hp	SNOMEDCT_US:64298006|UMLS:C0158473			http://purl.obolibrary.org/obo/HP_0030771	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205211001|UMLS:C0431996			http://purl.obolibrary.org/obo/HP_0030772	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	biolink:PhenotypicFeature	hp	MSH:D015835|SNOMEDCT_US:49823009|UMLS:C0152134			http://purl.obolibrary.org/obo/HP_0030773	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	biolink:PhenotypicFeature	hp	MSH:D008933|SNOMEDCT_US:125429001|UMLS:C0026244			http://purl.obolibrary.org/obo/HP_0030774	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	biolink:PhenotypicFeature	hp	UMLS:C4280778			http://purl.obolibrary.org/obo/HP_0030775	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	biolink:PhenotypicFeature	hp	UMLS:C4280777		Modic type 1 vertebral endplate changes	http://purl.obolibrary.org/obo/HP_0030776	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	biolink:PhenotypicFeature	hp	UMLS:C4280776		Modic type 2 vertebral endplate changes	http://purl.obolibrary.org/obo/HP_0030777	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	biolink:PhenotypicFeature	hp	UMLS:C4280775		Modic type 3 vertebral endplate changes	http://purl.obolibrary.org/obo/HP_0030778	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:55709000|UMLS:C0266680			http://purl.obolibrary.org/obo/HP_0030779	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	biolink:PhenotypicFeature	hp	UMLS:C4280774			http://purl.obolibrary.org/obo/HP_0030780	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	biolink:PhenotypicFeature	hp	UMLS:C4280773			http://purl.obolibrary.org/obo/HP_0030781	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 serum interleukin level	biolink:PhenotypicFeature	hp	UMLS:C4280772		Abnormal serum IL level	http://purl.obolibrary.org/obo/HP_0030782	An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.
HP:0030783	Increased circulating interleukin 6	biolink:PhenotypicFeature	hp	UMLS:C4280771		Increased serum IL-6|Increased serum interleukin-6	http://purl.obolibrary.org/obo/HP_0030783	An increased concentration of interleukin-6 in the circulation.
HP:0030784	Anomia	biolink:PhenotypicFeature	hp	MSH:D000849|SNOMEDCT_US:10325006|UMLS:C0003113		Amnesic aphasia|Amnestic aphasia|Anomic aphasia|Nominal aphasia	http://purl.obolibrary.org/obo/HP_0030784	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	biolink:PhenotypicFeature	hp	UMLS:C4280770		Intrathoracic cystic hygroma|Thoracic cystic lymphangioma	http://purl.obolibrary.org/obo/HP_0030785	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:56170001|UMLS:C0085635			http://purl.obolibrary.org/obo/HP_0030786	Perceived flashes of light.
HP:0030787	Cerumen abnormality	biolink:PhenotypicFeature	hp	UMLS:C4280769			http://purl.obolibrary.org/obo/HP_0030787	Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.
HP:0030788	Impacted cerumen	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18070006|UMLS:C0021092			http://purl.obolibrary.org/obo/HP_0030788	Blockage of the external auditory canal by a buildup of earwax.
HP:0030789	Excessive cerumen	biolink:PhenotypicFeature	hp	UMLS:C1382811			http://purl.obolibrary.org/obo/HP_0030789	An increased quantity of earwax.
HP:0030790	Abnormal cerumen color	biolink:PhenotypicFeature	hp	UMLS:C4280768		Abnormal cerumen colour|Abnormal cerumen pigmentation	http://purl.obolibrary.org/obo/HP_0030790	An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.
HP:0030791	Abnormal jaw morphology	biolink:PhenotypicFeature	hp	UMLS:C4280767			http://purl.obolibrary.org/obo/HP_0030791	A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.
HP:0030792	Jaw neoplasm	biolink:PhenotypicFeature	hp	MSH:D007573|SNOMEDCT_US:126634001|UMLS:C0022364			http://purl.obolibrary.org/obo/HP_0030792	A tumor originating in the jaw (mandible or maxilla).
HP:0030793	Jaw swelling	biolink:PhenotypicFeature	hp	UMLS:C4280766			http://purl.obolibrary.org/obo/HP_0030793	Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).
HP:0030794	Abnormal C-peptide level	biolink:PhenotypicFeature	hp	UMLS:C4280765		Abnormal C peptide level	http://purl.obolibrary.org/obo/HP_0030794	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	biolink:PhenotypicFeature	hp	UMLS:C4280764		Reduced C peptide level	http://purl.obolibrary.org/obo/HP_0030795	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	biolink:PhenotypicFeature	hp	UMLS:C4280763		Increased C peptide level	http://purl.obolibrary.org/obo/HP_0030796	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	biolink:PhenotypicFeature	hp	UMLS:C4280762			http://purl.obolibrary.org/obo/HP_0030797	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	biolink:PhenotypicFeature	hp	UMLS:C4280761			http://purl.obolibrary.org/obo/HP_0030798	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	biolink:PhenotypicFeature	hp	MSH:D003398|SNOMEDCT_US:4191007|UMLS:C0265534			http://purl.obolibrary.org/obo/HP_0030799	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	biolink:PhenotypicFeature	hp	UMLS:C4280760			http://purl.obolibrary.org/obo/HP_0030800	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	biolink:PhenotypicFeature	hp	UMLS:C4280759			http://purl.obolibrary.org/obo/HP_0030801	A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.
HP:0030802	Lower eyelid retraction	biolink:PhenotypicFeature	hp	SNOMEDCT_US:700264006|UMLS:C1861656			http://purl.obolibrary.org/obo/HP_0030802	Inferior malposition of the lower eyelid margin without eyelid eversion.
HP:0030803	Platonychia	biolink:PhenotypicFeature	hp	UMLS:C1853986			http://purl.obolibrary.org/obo/HP_0030803	Abnormal flat nail.
HP:0030804	Trachyonychia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69192004|UMLS:C0546956			http://purl.obolibrary.org/obo/HP_0030804	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	biolink:PhenotypicFeature	hp	UMLS:C4280758		Absent lunulae|Lunulae absent|Lunula absent	http://purl.obolibrary.org/obo/HP_0030805	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	biolink:PhenotypicFeature	hp	UMLS:C4280757			http://purl.obolibrary.org/obo/HP_0030806	Nails whose growth is quicker than normal.
HP:0030807	Abnormal nail growth	biolink:PhenotypicFeature	hp	UMLS:C1610609			http://purl.obolibrary.org/obo/HP_0030807	Nail whose growth pattern or speed deviates from normal.
HP:0030808	Ragged cuticle	biolink:PhenotypicFeature	hp	UMLS:C4280756			http://purl.obolibrary.org/obo/HP_0030808	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	biolink:PhenotypicFeature	hp	UMLS:C4280755			http://purl.obolibrary.org/obo/HP_0030809	Any structural anomaly of the tongue.
HP:0030810	Abnormal tongue physiology	biolink:PhenotypicFeature	hp	UMLS:C4280754			http://purl.obolibrary.org/obo/HP_0030810	Any functional anomaly of the tongue.
HP:0030811	Tongue pain	biolink:PhenotypicFeature	hp	MSH:D005926|SNOMEDCT_US:30731004|UMLS:C0017672		Painful tongue	http://purl.obolibrary.org/obo/HP_0030811	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.
HP:0030812	Enlarged tonsils	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46689006|UMLS:C0272386		Enlargment of tonsils|Tonsillar hypertrophy|tonsils large/hypertrophy	http://purl.obolibrary.org/obo/HP_0030812	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249393008|SNOMEDCT_US:300277007|UMLS:C0576999		Hypoplastic tonsils|Tonsillar hypoplasia	http://purl.obolibrary.org/obo/HP_0030813	Lack of observable tonsillar tissue.
HP:0030814	Orange discolored tonsils	biolink:PhenotypicFeature	hp	UMLS:C4280753		Orange discoloured tonsils|Orange colored tonsils|Orange coloured tonsils|Orange tonsils|Tonsils with orange deposits	http://purl.obolibrary.org/obo/HP_0030814	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	biolink:PhenotypicFeature	hp	UMLS:C0238467		Tongue lipoma	http://purl.obolibrary.org/obo/HP_0030815	A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.
HP:0030816	Gingival recession	biolink:PhenotypicFeature	hp	MSH:D005889|SNOMEDCT_US:4356008|UMLS:C0017572		Gum recession|Receding gums	http://purl.obolibrary.org/obo/HP_0030816	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	biolink:PhenotypicFeature	hp	UMLS:C4280752			http://purl.obolibrary.org/obo/HP_0030817	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:238718006|SNOMEDCT_US:86393005|UMLS:C0263526		Median nail dystrophy	http://purl.obolibrary.org/obo/HP_0030818	The presense of a depressed line ("canal") in the center of the nail.
HP:0030819	Ski jump nail	biolink:PhenotypicFeature	hp	UMLS:C4280751		Upslanting nail|Upward angulation of nail	http://purl.obolibrary.org/obo/HP_0030819	Nails that slope upward at the free edge.
HP:0030820	Hooded eyelid	biolink:PhenotypicFeature	hp	UMLS:C3277348			http://purl.obolibrary.org/obo/HP_0030820	Eyelid partly covered by skin when eyes are open.
HP:0030821	Hooded lower eyelid	biolink:PhenotypicFeature	hp	UMLS:C4280750			http://purl.obolibrary.org/obo/HP_0030821	Lower eyelid partly covered by skin when eyes are open.
HP:0030822	Hooded upper eyelid	biolink:PhenotypicFeature	hp	UMLS:C4280749			http://purl.obolibrary.org/obo/HP_0030822	Upper eyelid partly covered by skin when eyes are open.
HP:0030823	Scleral thickening	biolink:PhenotypicFeature	hp	UMLS:C2674403		Thick sclera	http://purl.obolibrary.org/obo/HP_0030823	Increased dimension of the sclera in the anterior-posterior axis.
HP:0030824	Mizuo phenomenon	biolink:PhenotypicFeature	hp	UMLS:C4280748		Mizuo-Nakamura phenomenon	http://purl.obolibrary.org/obo/HP_0030824	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247144003|UMLS:C0423420		Foveal reflex absent|Loss of foveal reflex	http://purl.obolibrary.org/obo/HP_0030825	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	biolink:PhenotypicFeature	hp	UMLS:C4280682		Muscle twitches in eye lid|Muscle twitches in eyelid|Twitching around eyes|Eyelid fluttering|Fasciculation of the eyelid	http://purl.obolibrary.org/obo/HP_0030826	Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.
HP:0030828	Wheezing	biolink:PhenotypicFeature	hp	MSH:D012135|SNOMEDCT_US:56018004|UMLS:C0043144		Wheezing	http://purl.obolibrary.org/obo/HP_0030828	A high-pitched whistling sound associated with labored breathing.
HP:0030829	Abnormal breath sound	biolink:PhenotypicFeature	hp	SNOMEDCT_US:301273002|UMLS:C0231856			http://purl.obolibrary.org/obo/HP_0030829	An anomalous (adventitious) sound produced by the breathing process.
HP:0030830	Crackles	biolink:PhenotypicFeature	hp	MSH:D012135|SNOMEDCT_US:48409008|UMLS:C0034642		Crepitations|Rales	http://purl.obolibrary.org/obo/HP_0030830	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	biolink:PhenotypicFeature	hp	MSH:D012135|SNOMEDCT_US:24612001|UMLS:C0035508			http://purl.obolibrary.org/obo/HP_0030831	Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.
HP:0030832	Vitreous strands	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28167005|UMLS:C0271408			http://purl.obolibrary.org/obo/HP_0030832	Fiber- or rope-like opacities located within the vitreous humor.
HP:0030833	Neck pain	biolink:PhenotypicFeature	hp	MSH:D019547|SNOMEDCT_US:81680005|UMLS:C0007859		Neck pain	http://purl.obolibrary.org/obo/HP_0030833	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.
HP:0030834	Shoulder pain	biolink:PhenotypicFeature	hp	MSH:D020069|SNOMEDCT_US:45326000|UMLS:C0037011		Shoulder pain	http://purl.obolibrary.org/obo/HP_0030834	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.
HP:0030835	Elbow pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:74323005|UMLS:C0239266		Elbow pain	http://purl.obolibrary.org/obo/HP_0030835	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.
HP:0030836	Wrist pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202482009|SNOMEDCT_US:56608008|UMLS:C0221785		Wrist pain	http://purl.obolibrary.org/obo/HP_0030836	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.
HP:0030837	Finger pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18876004|UMLS:C0239589		Finger pain	http://purl.obolibrary.org/obo/HP_0030837	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.
HP:0030838	Hip pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:49218002|UMLS:C0019559		Hip pain	http://purl.obolibrary.org/obo/HP_0030838	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
HP:0030839	Knee pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:30989003|UMLS:C0231749		Pain under knee cap|Knee pain	http://purl.obolibrary.org/obo/HP_0030839	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
HP:0030840	Ankle pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202490009|SNOMEDCT_US:247373008|UMLS:C0238656		Ankle pain	http://purl.obolibrary.org/obo/HP_0030840	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
HP:0030841	Toe pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:285365001|UMLS:C0241416		Toe pain	http://purl.obolibrary.org/obo/HP_0030841	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.
HP:0030842	Choking episodes	biolink:PhenotypicFeature	hp	UMLS:C4280747			http://purl.obolibrary.org/obo/HP_0030842	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:16573007|UMLS:C0268407		Amyloid cardiomyopathy	http://purl.obolibrary.org/obo/HP_0030843	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	biolink:PhenotypicFeature	hp	UMLS:C4280746			http://purl.obolibrary.org/obo/HP_0030844	Absent response to a pattern electroretinogram (PERG).
HP:0030845	Heliotrope rash of eyelid	biolink:PhenotypicFeature	hp	UMLS:C4280745			http://purl.obolibrary.org/obo/HP_0030845	Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.
HP:0030846	Abnormality of venous physiology	biolink:PhenotypicFeature	hp	UMLS:C4280744			http://purl.obolibrary.org/obo/HP_0030846	An anomaly of venous function.
HP:0030847	Abnormal jugular venous pressure	biolink:PhenotypicFeature	hp	SNOMEDCT_US:62436006|UMLS:C0520860			http://purl.obolibrary.org/obo/HP_0030847	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22447003|UMLS:C0520861			http://purl.obolibrary.org/obo/HP_0030848	Increased jugular venous pressure.
HP:0030849	Hepatojugular reflux	biolink:PhenotypicFeature	hp	SNOMEDCT_US:72196001|UMLS:C0239949			http://purl.obolibrary.org/obo/HP_0030849	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	biolink:PhenotypicFeature	hp	UMLS:C0855322			http://purl.obolibrary.org/obo/HP_0030850	An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.
HP:0030851	Low pulse pressure	biolink:PhenotypicFeature	hp	UMLS:C4280743			http://purl.obolibrary.org/obo/HP_0030851	Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).
HP:0030852	High pulse pressure	biolink:PhenotypicFeature	hp	UMLS:C0855323			http://purl.obolibrary.org/obo/HP_0030852	Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).
HP:0030853	Heterotaxy	biolink:PhenotypicFeature	hp	Fyler:0190|Fyler:190|MSH:D059446|SNOMEDCT_US:14821001|SNOMEDCT_US:24614000|UMLS:C0266642		Heterotaxia	http://purl.obolibrary.org/obo/HP_0030853	An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.
HP:0030854	Scleral staphyloma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111534007|UMLS:C0155359		Staphyloma	http://purl.obolibrary.org/obo/HP_0030854	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:231888000|UMLS:C0339206			http://purl.obolibrary.org/obo/HP_0030855	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87819007|UMLS:C0155360			http://purl.obolibrary.org/obo/HP_0030856	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	biolink:PhenotypicFeature	hp	UMLS:C4280742			http://purl.obolibrary.org/obo/HP_0030857	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	biolink:PhenotypicFeature	hp	MSH:D016739|SNOMEDCT_US:32709003|UMLS:C0085281		Addictive behaviour	http://purl.obolibrary.org/obo/HP_0030858	A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains.
HP:0030859	Anti-topoisomerase I antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4280741		Top1 antibody positivity|Topoisomerase (DNA) I antibody positivity	http://purl.obolibrary.org/obo/HP_0030859	The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.
HP:0030860	Abnormal CSF amyloid level	biolink:PhenotypicFeature	hp	UMLS:C4280740		Abnormal CSF A[beta]42 level	http://purl.obolibrary.org/obo/HP_0030860	Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).
HP:0030861	Decreased CSF amyloid level	biolink:PhenotypicFeature	hp	UMLS:C4280739			http://purl.obolibrary.org/obo/HP_0030861	Reduced concentration of amyloid in the cerebrospinal fluid (CSF).
HP:0030862	Elevated CSF amyloid level	biolink:PhenotypicFeature	hp	UMLS:C4280738			http://purl.obolibrary.org/obo/HP_0030862	Increased concentration of amyloid in the cerebrospinal fluid (CSF).
HP:0030863	Nasal flaring	biolink:PhenotypicFeature	hp	SNOMEDCT_US:21558008|SNOMEDCT_US:248568003|UMLS:C0277873			http://purl.obolibrary.org/obo/HP_0030863	Widening of the nostrils upon inhalation as a manifestation of respiratory distress.
HP:0030864	Intercostal retractions	biolink:PhenotypicFeature	hp	SNOMEDCT_US:6442005|UMLS:C0425470		Chest retractions	http://purl.obolibrary.org/obo/HP_0030864	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	biolink:PhenotypicFeature	hp	UMLS:C4280737		Prominent elbow	http://purl.obolibrary.org/obo/HP_0030865	Abnormal increased size of the elbow joint.
HP:0030866	Large knee	biolink:PhenotypicFeature	hp	UMLS:C4280736			http://purl.obolibrary.org/obo/HP_0030866	Abnormally increased size of the knee joint.
HP:0030867	Vertical orbital dystopia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253243008|UMLS:C0431460		Eyes at different heights|Misaligned eyes|Unequal eye height	http://purl.obolibrary.org/obo/HP_0030867	The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.
HP:0030868	Monorchism	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87310001|UMLS:C0266429		Monorchidism	http://purl.obolibrary.org/obo/HP_0030868	Having only one testis in the scrotum.
HP:0030869	Anorchism	biolink:PhenotypicFeature	hp	MSH:C537770|SNOMEDCT_US:371015003|UMLS:C1261504			http://purl.obolibrary.org/obo/HP_0030869	An abnormality of XY sexual development characterized by the absence of both testes at birth.
HP:0030870	Abnormality of spinal facet joint	biolink:PhenotypicFeature	hp	UMLS:C4280735		Abnormality of Z-joint|Abnormality of apophyseal joint|Abnormality of zygapophyseal joint|Abnormality of zygapophysial joint	http://purl.obolibrary.org/obo/HP_0030870	An anomaly of the small joints located between and behind adjacent vertebrae.
HP:0030871	Facet joint arthrosis	biolink:PhenotypicFeature	hp	UMLS:C4280734		Facet arthritis	http://purl.obolibrary.org/obo/HP_0030871	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	biolink:PhenotypicFeature	hp	UMLS:C4280733			http://purl.obolibrary.org/obo/HP_0030872	An abnormality of the cardiac ventricular function.
HP:0030873	Anti-centromere antibody positivity	biolink:PhenotypicFeature	hp	UMLS:C4280732		ACA positivity|Anti-centromere antibody positivity|Anticentromere antibody positivity	http://purl.obolibrary.org/obo/HP_0030873	The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.
HP:0030874	Oxygen desaturation on exertion	biolink:PhenotypicFeature	hp	UMLS:C4280731		O2 desaturation on exertion	http://purl.obolibrary.org/obo/HP_0030874	Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.
HP:0030875	Abnormality of pulmonary circulation	biolink:PhenotypicFeature	hp	UMLS:C4280730		Abnormal pulmonary circulation|Abnormality of respiratory circulation	http://purl.obolibrary.org/obo/HP_0030875	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:30261008|UMLS:C0520850		Increased pulmonary arterial wedge pressure|Increased pulmonary artery occlusion pressure	http://purl.obolibrary.org/obo/HP_0030876	Pulmonary capillary wedge pressure (PCWP) above 15mmHg.
HP:0030877	Reduced FEV1/FVC ratio	biolink:PhenotypicFeature	hp	UMLS:C4280729		Obstructive deficit on pulmonary function test|Obstructive deficit on pulmonary function testing	http://purl.obolibrary.org/obo/HP_0030877	Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
HP:0030878	Abnormality on pulmonary function testing	biolink:PhenotypicFeature	hp	UMLS:C4280728		Abnormal pulmonary function test|Abnormal spirometry test	http://purl.obolibrary.org/obo/HP_0030878	Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
HP:0030879	Interlobular septal thickening on pulmonary HRCT	biolink:PhenotypicFeature	hp	UMLS:C4280727			http://purl.obolibrary.org/obo/HP_0030879	Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.
HP:0030880	Raynaud phenomenon	biolink:PhenotypicFeature	hp	MSH:D011928|SNOMEDCT_US:266261006|UMLS:C0034735		Raynaud's phenomenon|Raynaud disease	http://purl.obolibrary.org/obo/HP_0030880	
HP:0030881	Shoulder impingement	biolink:PhenotypicFeature	hp	UMLS:C1655733			http://purl.obolibrary.org/obo/HP_0030881	Trapping and compression of the rotator cuff tendons during shoulder movements.
HP:0030882	Coronary artery aneurysm	biolink:PhenotypicFeature	hp	Fyler:3129|UMLS:C4255100		Coronary arterial dilatation|Coronary artery dilatation|Coronary artery ectasia	http://purl.obolibrary.org/obo/HP_0030882	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	biolink:PhenotypicFeature	hp	MSH:D057925|SNOMEDCT_US:432473000|UMLS:C2936290		Femoral acetabular impingement	http://purl.obolibrary.org/obo/HP_0030883	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	biolink:PhenotypicFeature	hp	UMLS:C4280681		Gastro-jejunal tube feeding in infancy	http://purl.obolibrary.org/obo/HP_0030884	Feeding problem necessitating gastrojejunal tube feeding.
HP:0030885	Recurrent parasitic infections	biolink:PhenotypicFeature	hp	UMLS:C4280726			http://purl.obolibrary.org/obo/HP_0030885	Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.
HP:0030886	Abnormal lymphocyte apoptosis	biolink:PhenotypicFeature	hp	UMLS:C4280725			http://purl.obolibrary.org/obo/HP_0030886	A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.
HP:0030887	Increased lymphocyte apoptosis	biolink:PhenotypicFeature	hp	UMLS:C4280724			http://purl.obolibrary.org/obo/HP_0030887	A elevation in the rate of apoptosis in lymphocytes.
HP:0030888	C3 nephritic factor positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030888	The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).
HP:0030889	Congenital shortened small intestine	biolink:PhenotypicFeature	hp			Short bowel	http://purl.obolibrary.org/obo/HP_0030889	Substantially shortened length of the small intestine as a result of a developmental defect.
HP:0030890	Hyperintensity of cerebral white matter on MRI	biolink:PhenotypicFeature	hp			White matter hyperintensity	http://purl.obolibrary.org/obo/HP_0030890	A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
HP:0030891	Periventricular white matter hyperdensities	biolink:PhenotypicFeature	hp			PVWMH|Periventricular cerebral white matter hyperdensities|Periventricular white matter hyperintensities	http://purl.obolibrary.org/obo/HP_0030891	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 hyperdensities	biolink:PhenotypicFeature	hp			DWMH|Deep white matter hyperintensities	http://purl.obolibrary.org/obo/HP_0030892	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030893	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030894	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	biolink:PhenotypicFeature	hp			Abnormal GI motility	http://purl.obolibrary.org/obo/HP_0030895	An anomaly of the muscular contractions that propel food though the gastrointestinal tract.
HP:0030896	Abnormal gastrointestinal transit time	biolink:PhenotypicFeature	hp			Abnormal GI transit time	http://purl.obolibrary.org/obo/HP_0030896	A deviation from the normal amount of time required for food to pass through the intestines.
HP:0030897	Decreased intestinal transit time	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030897	A reduction in the length of time required for food to pass through the intestines.
HP:0030898	Pruritis on abdomen	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030898	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030899	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	biolink:PhenotypicFeature	hp			Itchy feet|Itchy foot	http://purl.obolibrary.org/obo/HP_0030900	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030901	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030902	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	biolink:PhenotypicFeature	hp			Palmar grasp reflex	http://purl.obolibrary.org/obo/HP_0030903	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	biolink:PhenotypicFeature	hp			Myerson's sign	http://purl.obolibrary.org/obo/HP_0030904	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030905	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	biolink:PhenotypicFeature	hp			Persistent nutritive suckle swallow	http://purl.obolibrary.org/obo/HP_0030906	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030907	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	biolink:PhenotypicFeature	hp			Anti-LKM-1 positive	http://purl.obolibrary.org/obo/HP_0030908	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	biolink:PhenotypicFeature	hp			Anti-liver cytosol antibody-1 positivity	http://purl.obolibrary.org/obo/HP_0030909	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030911	Two clitorides located side by side.
HP:0030912	Duplicated clitoris	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030912	Supernumerary clitoris.
HP:0030913	Exaggerated rugosity of the labia majora	biolink:PhenotypicFeature	hp			Scrotum-like labia majora	http://purl.obolibrary.org/obo/HP_0030913	Marked rugae formation of the skin of the labia majora.
HP:0030914	Abnormal peristalsis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030914	An anomaly of the wave-like muscle contractions of the digestive tract.
HP:0030915	Cerebellar edema	biolink:PhenotypicFeature	hp			Cerebellar oedema|Edema of the cerebellum|Oedema of the cerebellum	http://purl.obolibrary.org/obo/HP_0030915	Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.
HP:0030917	Low APGAR score	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030917	
HP:0030918	Low 1-minute APGAR score	biolink:PhenotypicFeature	hp			Low one-minute APGAR score	http://purl.obolibrary.org/obo/HP_0030918	
HP:0030919	Low 5-minute APGAR score	biolink:PhenotypicFeature	hp			Low five-minute APGAR score	http://purl.obolibrary.org/obo/HP_0030919	
HP:0030920	5-minute APGAR score of 0	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030920	
HP:0030921	5-minute APGAR score of 1	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030921	
HP:0030922	5-minute APGAR score of 2	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030922	
HP:0030923	5-minute APGAR score of 3	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030923	
HP:0030924	5-minute APGAR score of 4	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030924	
HP:0030925	5-minute APGAR score of 5	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030925	
HP:0030926	5-minute APGAR score of 6	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030926	
HP:0030927	1-minute APGAR score of 0	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030927	
HP:0030928	1-minute APGAR score of 1	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030928	
HP:0030929	1-minute APGAR score of 2	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030929	
HP:0030930	1-minute APGAR score of 3	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030930	
HP:0030931	1-minute APGAR score of 4	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030931	
HP:0030932	1-minute APGAR score of 5	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030932	
HP:0030933	1-minute APGAR score of 6	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030933	
HP:0030934	Oral erythroplakia	biolink:PhenotypicFeature	hp			Oral erythroplasia	http://purl.obolibrary.org/obo/HP_0030934	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030935	A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.
HP:0030936	Abnormal layering of muscularis propria	biolink:PhenotypicFeature	hp			Muscularis propria malformation|Segmental additional circular muscle coat	http://purl.obolibrary.org/obo/HP_0030936	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030937	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030938	Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.
HP:0030939	Palpebral thickening	biolink:PhenotypicFeature	hp			Eyelid thickening|Thick eyelids|Thickened but nonswollen eyelids|Thickened eyelid	http://purl.obolibrary.org/obo/HP_0030939	An increased thickness of the eyelid not related to acute inflammation.
HP:0030943	Vulvodynia	biolink:PhenotypicFeature	hp			Vulvar pain	http://purl.obolibrary.org/obo/HP_0030943	Pain in the vulvar area
HP:0030946	Conjunctival papillae	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030946	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030947	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	biolink:PhenotypicFeature	hp			Elevated serum GGT	http://purl.obolibrary.org/obo/HP_0030948	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030949	An abnormal accumulation of protein in the glomerulus.
HP:0030950	Pulmonary venous hypertension	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030950	An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.
HP:0030951	Skeletal muscle fibrosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030951	Excessive formation of fibrous bands of scar tissue in between muscle fibers.
HP:0030952	Birdshot choroidal lesions	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030952	Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.
HP:0030953	Conjunctival hyperemia	biolink:PhenotypicFeature	hp			Conjunctival hyperaemia|Conjunctival injection|Conjunctival vascular congestion	http://purl.obolibrary.org/obo/HP_0030953	Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.
HP:0030955	Alcoholism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030955	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030956	An anomaly of the electrical conduction physiology of the heart.
HP:0030957	Ventricular septal aneurysm	biolink:PhenotypicFeature	hp			Ventricular septal dilatation	http://purl.obolibrary.org/obo/HP_0030957	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	biolink:PhenotypicFeature	hp	Fyler:2346		Interventricular septum membranous part aneurysm|Aneurysm of the membranous ventricular septum	http://purl.obolibrary.org/obo/HP_0030958	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	biolink:PhenotypicFeature	hp			Aneurysm of the muscular ventricular septum	http://purl.obolibrary.org/obo/HP_0030959	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:0030960	obsolete Abnormal pupillary morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030960	
HP:0030961	Microspherophakia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030961	Lens of the eye is smaller than normal and spherically shaped.
HP:0030962	Abnormal morphology of the great vessels	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030962	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:0030963	obsolete Abnormal aortic morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030963	
HP:0030964	Abnormal aortic physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030964	
HP:0030965	Aortic stiffness	biolink:PhenotypicFeature	hp			Increased aortic stiffness	http://purl.obolibrary.org/obo/HP_0030965	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030966	An abnormality of the structure of the pulmonary artery.
HP:0030967	Abnormal pulmonary artery physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030967	An abnormality of the function of the pulmonary artery.
HP:0030968	Abnormal pulmonary vein morphology	biolink:PhenotypicFeature	hp	Fyler:3000			http://purl.obolibrary.org/obo/HP_0030968	An abnormality of the structure of the pulmonary veins.
HP:0030969	Abnormal pulmonary vein physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030969	An abnormality of the function of the pulmonary veins.
HP:0030970	Abnormal vena cava physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030970	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:0030971	obsolete Abnormal vena cava morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030971	
HP:0030972	Abnormal systemic blood pressure	biolink:PhenotypicFeature	hp			Abnormal systemic BP	http://purl.obolibrary.org/obo/HP_0030972	A chronic deviation from normal pressure in the systemic arterial system.
HP:0030973	Postexertional malaise	biolink:PhenotypicFeature	hp			Exercise-induced fatigue|Exercise-induced malaise|Postexertional fatigue	http://purl.obolibrary.org/obo/HP_0030973	A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.
HP:0030974	Cryptozoospermia	biolink:PhenotypicFeature	hp			Cryptospermia	http://purl.obolibrary.org/obo/HP_0030974	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	biolink:PhenotypicFeature	hp			Vaulted pontine tegmentum	http://purl.obolibrary.org/obo/HP_0030975	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030976	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030977	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030978	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	biolink:PhenotypicFeature	hp			Dilated choroidal vessels	http://purl.obolibrary.org/obo/HP_0030979	Enlargement of the large blood vessels in the choroid.
HP:0030980	Reduced brain glutamine level by MRS	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030980	An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0030981	Abnormal CSF/serum albumin ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030981	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030983	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030984	A deviation from the normal concentration of serum bile acid concentration.
HP:0030985	Decreased serum bile concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030985	A reduction in the concentration of bile acid in the blood.
HP:0030986	Biliary epithelial hyperplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030986	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030987	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030988	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030989	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030990	Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.
HP:0030991	Sclerosing cholangitis	biolink:PhenotypicFeature	hp			Fibrous cholangitis	http://purl.obolibrary.org/obo/HP_0030991	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030992	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	biolink:PhenotypicFeature	hp			Duplicated pancreatic duct	http://purl.obolibrary.org/obo/HP_0030993	A congenital anomaly characterized by the presence of two separate pancreatic ducts.
HP:0030994	Pancreas divisum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030994	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030995	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030996	Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.
HP:0030997	Atretic vas deferens	biolink:PhenotypicFeature	hp			Atresia of the vas deferens|Vas deferens atresia	http://purl.obolibrary.org/obo/HP_0030997	Abnormal closure or blockage of the vas deferens.
HP:0030998	Cerebrospinal fluid rhinorrhoea	biolink:PhenotypicFeature	hp			CSF rhinorrhoea	http://purl.obolibrary.org/obo/HP_0030998	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0030999	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031000	Deterioration or loss of the tissues of the saccule of the vestibule.
HP:0031001	Minifascicle formation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031001	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031002	Inflammation of a nerve.
HP:0031003	Polyneuritis	biolink:PhenotypicFeature	hp			Multiple neuritis	http://purl.obolibrary.org/obo/HP_0031003	Simulataneous inflammation of multiple nerves.
HP:0031004	Hemiareflexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031004	Areflexia that is limited to one side of the body.
HP:0031005	Hyperalgesia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031005	Abnormally increased sensitivity to pain.
HP:0031006	Acroparesthesia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031006	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	biolink:PhenotypicFeature	hp			Jaw dystonia induced by speaking	http://purl.obolibrary.org/obo/HP_0031007	
HP:0031008	Lingual dystonia	biolink:PhenotypicFeature	hp			Tongue dystonia	http://purl.obolibrary.org/obo/HP_0031008	Involuntary protrusions, movements, spams and contortions of the tongue.
HP:0031009	Ainhum	biolink:PhenotypicFeature	hp			Dactylolysis spontanea	http://purl.obolibrary.org/obo/HP_0031009	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	biolink:PhenotypicFeature	hp			Hyperphalangy of third finger	http://purl.obolibrary.org/obo/HP_0031010	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	biolink:PhenotypicFeature	hp			Sudanophilic lesion	http://purl.obolibrary.org/obo/HP_0031011	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	biolink:PhenotypicFeature	hp			TCFA	http://purl.obolibrary.org/obo/HP_0031012	Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031013	A reduction of joint mobility resulting from changes involving the articular surfaces.
HP:0031014	Arteria lusoria	biolink:PhenotypicFeature	hp			Aberrant right subclavian artery|Lusorian artery	http://purl.obolibrary.org/obo/HP_0031014	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	biolink:PhenotypicFeature	hp			Idiopathic non-cirrhotic portal hypertension|Incomplete septal cirrhosis|Non cirrhotic portal fibrosis|Obliterative portal venopathy	http://purl.obolibrary.org/obo/HP_0031015	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	biolink:PhenotypicFeature	hp			Zebra stripe sign	http://purl.obolibrary.org/obo/HP_0031016	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031017	Multiple defects in the atrial septum.
HP:0031018	Eccrine syringofibroadenoma	biolink:PhenotypicFeature	hp			Acrosyringeal adenomatosis|Eccrine syringofibroadenomatous hyperplasia|Syringofibroadenoma	http://purl.obolibrary.org/obo/HP_0031018	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031019	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031020	A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.
HP:0031021	Squamous Papilloma	biolink:PhenotypicFeature	hp	NCIT:C3712			http://purl.obolibrary.org/obo/HP_0031021	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	biolink:PhenotypicFeature	hp	NCIT:C6038			http://purl.obolibrary.org/obo/HP_0031022	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	biolink:PhenotypicFeature	hp	NCIT:C6559			http://purl.obolibrary.org/obo/HP_0031023	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031024	A benign skin adnexal tumor of eccrine differentiation.
HP:0031025	Gastric leiomyosarcoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031025	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	biolink:PhenotypicFeature	hp			Snail-like pelvis|Snail-shaped ilia|Schneckenbecken dysplasia	http://purl.obolibrary.org/obo/HP_0031026	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031027	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	biolink:PhenotypicFeature	hp			Milk-like serum|Plasma lactescence	http://purl.obolibrary.org/obo/HP_0031028	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	biolink:PhenotypicFeature	hp			Increased plasma CEA	http://purl.obolibrary.org/obo/HP_0031029	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	biolink:PhenotypicFeature	hp			Increased plasma CA125	http://purl.obolibrary.org/obo/HP_0031030	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031031	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031032	A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.
HP:0031033	Impaired urinary acidification	biolink:PhenotypicFeature	hp			Renal acidification defect	http://purl.obolibrary.org/obo/HP_0031033	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031034	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031035	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	biolink:PhenotypicFeature	hp			Decreased plasma GH-binding protein	http://purl.obolibrary.org/obo/HP_0031036	A decreased blood concentration of growth hormone binding protein.
HP:0031037	Reduced insulin-like factor 3 level	biolink:PhenotypicFeature	hp			Reduced plasma INSL3 level	http://purl.obolibrary.org/obo/HP_0031037	Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.
HP:0031038	Spermatogenesis maturation arrest	biolink:PhenotypicFeature	hp			Meiotic maturation arrest of spermatogenesis	http://purl.obolibrary.org/obo/HP_0031038	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031039	A type of maturation arrest in which only spermatogonia or spermatocytes are found.
HP:0031040	Late spermatogenesis maturation arrest	biolink:PhenotypicFeature	hp			Maturation arrest of spermatogenesis at spermatid stage	http://purl.obolibrary.org/obo/HP_0031040	A type of maturation arrest in which spermatids are detected without spermatozoa.
HP:0031041	Obstruction of the superior vena cava	biolink:PhenotypicFeature	hp			Superior vena cava obstruction|Superior vena cava syndrome	http://purl.obolibrary.org/obo/HP_0031041	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	biolink:PhenotypicFeature	hp			Raspberry tongue	http://purl.obolibrary.org/obo/HP_0031042	Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.
HP:0031043	Type A4 brachydactyly	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031043	A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.
HP:0031044	Type A5 brachydactyly	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031044	A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.
HP:0031045	Acral blistering	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031045	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	biolink:PhenotypicFeature	hp			Agenesis of the soft palate	http://purl.obolibrary.org/obo/HP_0031046	A developmental defect characterized by lack of a soft palate.
HP:0031047	Paraproteinemia	biolink:PhenotypicFeature	hp			Monoclonal hypergammaglobulinemia	http://purl.obolibrary.org/obo/HP_0031047	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031048	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031049	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031050	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031051	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031052	Increased blood concentration of vascular endothelial growth factor (VEGF).
HP:0031053	Coarctation in the transverse aortic arch	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031053	Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.
HP:0031054	Long segment coarctation of the aorta	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031054	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031055	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	biolink:PhenotypicFeature	hp			Intracranial fusiform aneurysm	http://purl.obolibrary.org/obo/HP_0031056	A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.
HP:0031057	Skin fissure	biolink:PhenotypicFeature	hp			Cracked skin	http://purl.obolibrary.org/obo/HP_0031057	A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.
HP:0031058	Impairment of activities of daily living	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031058	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031059	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031060	This applies to an individual who needs help with dressing or needs to be completely dressed.
HP:0031061	Impaired toileting ability	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031061	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031062	Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.
HP:0031063	Impaired feeding ability	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031063	Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.
HP:0031064	Impaired continence	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031064	Partial or total incontinence of bowel or bladder.
HP:0031065	Abnormal ovarian morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031065	
HP:0031066	Abnormal ovarian physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031066	Any anomaly of ovarian function.
HP:0031067	Empty ovarian follicle	biolink:PhenotypicFeature	hp			Empty follicle syndrome	http://purl.obolibrary.org/obo/HP_0031067	A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.
HP:0031068	Increased femoral torsion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031068	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 exceeds this range.
HP:0031069	Abnormal femoral torsion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031069	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:0031070	Decreased femoral torsion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031070	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 is below this range.
HP:0031071	Abnormal endocrine morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031071	Any anomaly of the structure of an organ ofthe endocrine system.
HP:0031072	Abnormal endocrine physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031072	Any anomaly of the function of the endocrine system.
HP:0031073	Abnormal response to endocrine stimulation test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031073	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	biolink:PhenotypicFeature	hp			Abnormal response to adrenocorticotropic-hormone stimulation test|Abnormal response to corticotropin stimulation test	http://purl.obolibrary.org/obo/HP_0031074	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031075	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031076	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	biolink:PhenotypicFeature	hp			Abnormal response to CRH stimulation test	http://purl.obolibrary.org/obo/HP_0031077	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031078	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031079	Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
HP:0031080	Abnormal response to glucagon stimulation test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031080	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031081	Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.
HP:0031082	Impaired growth-hormone response to glucagon stimulation test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031082	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	biolink:PhenotypicFeature	hp			Abnormal response to hCG stimulation test	http://purl.obolibrary.org/obo/HP_0031083	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031084	An abnormally high increase in insulin levels following a glucagon stimulation test.
HP:0031085	Decreased prealbumin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031085	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	biolink:PhenotypicFeature	hp			Undescended ovary	http://purl.obolibrary.org/obo/HP_0031086	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	biolink:PhenotypicFeature	hp			Absent adolescent growth spurt	http://purl.obolibrary.org/obo/HP_0031087	The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.
HP:0031088	Vaginal dryness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031088	Persistent vaginal dryness.
HP:0031089	Palatal edema	biolink:PhenotypicFeature	hp			Palatal oedema|Palate edema	http://purl.obolibrary.org/obo/HP_0031089	Swelling related to fluid accumulation within the palate.
HP:0031090	Finger dactylitis	biolink:PhenotypicFeature	hp			Sausage fingers	http://purl.obolibrary.org/obo/HP_0031090	Fingers appear swollen and plump owing to inflammation of the complete finger.
HP:0031091	Toe dactylitis	biolink:PhenotypicFeature	hp			Sausage toes	http://purl.obolibrary.org/obo/HP_0031091	Toes appear swollen and plump owing to inflammation of the complete toe.
HP:0031092	Spindle-shaped finger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031092	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031093	Any anomaly of the structure of the breast.
HP:0031094	Abnormal breast physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031094	Any anomaly of the function of the breast.
HP:0031095	Abnormal humerus morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031095	Any anomaly of the structure of the humerus.
HP:0031096	Delayed vertebral ossification	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031096	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	biolink:PhenotypicFeature	hp			Abnormal TSH level|Abnormal circulating thyrotropin concentration|Abnormal thyrotropin level	http://purl.obolibrary.org/obo/HP_0031097	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	biolink:PhenotypicFeature	hp			Decreased plasma TSH|Decreased thyrotropin level	http://purl.obolibrary.org/obo/HP_0031098	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031099	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031100	A reduced concentration of inhibin B in the blood.
HP:0031101	Abnormal antimullerian hormone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031101	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 antimullerian hormone level	biolink:PhenotypicFeature	hp			Increased plasma AMH	http://purl.obolibrary.org/obo/HP_0031102	An elevation above the normal range of the antimullerian hormone in the circulation.
HP:0031103	Decreased antimullerian hormone level	biolink:PhenotypicFeature	hp			Decreased plasma AMH	http://purl.obolibrary.org/obo/HP_0031103	A reduction below the normal range of the antimullerian hormone in the circulation.
HP:0031104	Insulin receptor antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031104	The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.
HP:0031105	Abnormal uterus morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031105	Any anomaly of the structure of the uterus
HP:0031106	T-shaped uterus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031106	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	biolink:PhenotypicFeature	hp			Thin fibula	http://purl.obolibrary.org/obo/HP_0031107	Reduced width of the cross sectional diameter of the fibula.
HP:0031108	Triceps weakness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031108	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	biolink:PhenotypicFeature	hp			Lactation incapacity	http://purl.obolibrary.org/obo/HP_0031109	Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.
HP:0031110	Twin-to-twin transfusion	biolink:PhenotypicFeature	hp			Twin to twin transfusion syndrome	http://purl.obolibrary.org/obo/HP_0031110	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	biolink:PhenotypicFeature	hp			Skin hamartoma	http://purl.obolibrary.org/obo/HP_0031111	A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.
HP:0031117	Purely bicuspid aortic valve	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031117	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031118	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031119	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031120	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031121	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031122	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031123	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031124	Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).
HP:0031125	Decreased platelet alpha-2A-adrenergic receptor	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031125	Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.
HP:0031126	Impaired clot retraction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031126	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031127	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031128	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031129	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	biolink:PhenotypicFeature	hp			Impaired Ca ionophore-induced platelet aggregation|Impaired Ca2+ ionophore-induced platelet aggregation	http://purl.obolibrary.org/obo/HP_0031130	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031131	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031132	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031133	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031134	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	biolink:PhenotypicFeature	hp			Physical trauma triggered symptoms	http://purl.obolibrary.org/obo/HP_0031135	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031136	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031137	Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.
HP:0031138	Abnormal B-type natriuretic peptide level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031138	A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).
HP:0031139	Frog-leg posture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031139	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031140	An abnormal appearance of the liver or any of its components on sonography (ultrasound).
HP:0031141	Increased hepatic echogenicity	biolink:PhenotypicFeature	hp			Hyperechogenic liver	http://purl.obolibrary.org/obo/HP_0031141	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031142	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	biolink:PhenotypicFeature	hp			Hypoechogenic liver	http://purl.obolibrary.org/obo/HP_0031143	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031144	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031145	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031146	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	biolink:PhenotypicFeature	hp			VMA	http://purl.obolibrary.org/obo/HP_0031150	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	biolink:PhenotypicFeature	hp			VMT	http://purl.obolibrary.org/obo/HP_0031151	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	biolink:PhenotypicFeature	hp			FTMH	http://purl.obolibrary.org/obo/HP_0031152	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	biolink:PhenotypicFeature	hp			Membranous anomaly|Membranous vitreous|Membranous vitreous phenotype	http://purl.obolibrary.org/obo/HP_0031153	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031154	Vitreous humor of the eye displaying beaded bundles of irregular diameters.
HP:0031155	Increased Arden ratio of electrooculogram	biolink:PhenotypicFeature	hp			Increased Arden ratio of EOG	http://purl.obolibrary.org/obo/HP_0031155	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031156	Decreased platelet cell membrane concentration of glycoprotein Ib.
HP:0031157	Carotid cavernous fistula	biolink:PhenotypicFeature	hp			Caroticocavernous fistula	http://purl.obolibrary.org/obo/HP_0031157	An abnormal connection between a carotid artery and the cavernous sinus.
HP:0031158	Widened atrophic scar	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031158	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031159	A reduction in the thickness of Descemet's membrane.
HP:0031160	Myelokathexis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031160	Impaired egress of mature neutrophils from bone marrow causing neutropenia.
HP:0031161	Reduced brain glutamate level by MRS	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031161	An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0031162	Impaired oropharyngeal swallow response	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031162	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	biolink:PhenotypicFeature	hp			Low femur bone density	http://purl.obolibrary.org/obo/HP_0031163	Reduced bone mineral density of the femur.
HP:0031164	Growth arrest lines	biolink:PhenotypicFeature	hp			Growth resumption lines|Harris lines	http://purl.obolibrary.org/obo/HP_0031164	Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.
HP:0031165	Multifocal seizures	biolink:PhenotypicFeature	hp			Multifocal onset seizures	http://purl.obolibrary.org/obo/HP_0031165	Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).
HP:0031166	Eyelid myokymia	biolink:PhenotypicFeature	hp			Myokymia orbicularis|Orbicularis myokymia	http://purl.obolibrary.org/obo/HP_0031166	Involuntary, fine, continuous, undulating contractions of the eyelid.
HP:0031167	Triggered by ingestion of potassium-rich food	biolink:PhenotypicFeature	hp			Triggered by ingestion of K-rich food|Potassium-rich food triggered symptoms	http://purl.obolibrary.org/obo/HP_0031167	Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.
HP:0031169	Postterm pregnancy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031169	A pregnancy that extends to 42 weeks of gestation or beyond.
HP:0031170	Female fetal virilization	biolink:PhenotypicFeature	hp			Female foetal virilization	http://purl.obolibrary.org/obo/HP_0031170	Fetal masculinization of female external genitalia.
HP:0031171	Femoral spur	biolink:PhenotypicFeature	hp			Spurring of femur	http://purl.obolibrary.org/obo/HP_0031171	A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.
HP:0031172	Sectoral retinitis pigmentosa	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031172	A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.
HP:0031173	Tibial spur	biolink:PhenotypicFeature	hp			Spurring of tibiae	http://purl.obolibrary.org/obo/HP_0031173	A bony projection (spur, osteophyte) originating from the tibia.
HP:0031174	Double-layered patella	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031174	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031175	A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.
HP:0031176	Absent thoracic vertebra	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031176	A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.
HP:0031177	Finger flexor weakness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031177	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031178	Head is bent in the posterior direction in a permanent fashion.
HP:0031179	Nuchal rigidity	biolink:PhenotypicFeature	hp			Meningism	http://purl.obolibrary.org/obo/HP_0031179	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	biolink:PhenotypicFeature	hp			Erythema chronicum migrans	http://purl.obolibrary.org/obo/HP_0031180	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031181	Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.
HP:0031185	Increased NT-proBNP level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031185	An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).
HP:0031186	Abnormal circulating deoxycorticosterone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031186	An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.
HP:0031187	Abnormality of circulating pregnenolone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031187	An abnormality of the concentration of pregnenolone in the blood.
HP:0031188	Genital edema	biolink:PhenotypicFeature	hp			Genital oedema	http://purl.obolibrary.org/obo/HP_0031188	A buildup of fluid that causes swelling in the soft tissues of the genital area.
HP:0031189	Wrist drop	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031189	A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.
HP:0031190	Superficial dermal perivascular inflammatory infiltrate	biolink:PhenotypicFeature	hp			Superficial perivascular inflammatory infiltrate	http://purl.obolibrary.org/obo/HP_0031190	Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.
HP:0031191	Deep dermal perivascular inflammatory infiltrate	biolink:PhenotypicFeature	hp			Deep perivascular inflammatory infiltrate	http://purl.obolibrary.org/obo/HP_0031191	Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.
HP:0031192	Abnormal morphology of left ventricular trabeculae	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031192	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031193	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031194	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031195	An increased number and density of the trabeculae in the apex (tip) of the left ventricle.
HP:0031196	Thin myocardium compact layer	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031196	Reduced thickness of the outer, dense layer of the myocardium.
HP:0031197	Cellular urinary casts	biolink:PhenotypicFeature	hp			Cellular casts	http://purl.obolibrary.org/obo/HP_0031197	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031198	A type of cellular urinary cast composed of renal tubular epithelial cells.
HP:0031199	Acellular urinary casts	biolink:PhenotypicFeature	hp			Acellular casts	http://purl.obolibrary.org/obo/HP_0031199	A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.
HP:0031200	Hyaline casts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031200	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031201	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031202	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031203	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031204	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	biolink:PhenotypicFeature	hp			Reduced leukocyte acid lipase activity	http://purl.obolibrary.org/obo/HP_0031205	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031206	Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.
HP:0031207	Hepatic hemangioma	biolink:PhenotypicFeature	hp			Hemangioma of the liver|Liver hemangioma	http://purl.obolibrary.org/obo/HP_0031207	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	biolink:PhenotypicFeature	hp			Increased pituitary glycoprotein alpha subunit level|Increased pituitary glycoprotein polypeptide alpha subunit level	http://purl.obolibrary.org/obo/HP_0031208	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	biolink:PhenotypicFeature	hp			Decreased lipoprotein lipase level	http://purl.obolibrary.org/obo/HP_0031209	Reduction in the level of lipoprotein lipase in the blood.
HP:0031210	Abnormal circulating hyaluronic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031210	A deviation from the normal concentration of hyaluronic acid in the blood.
HP:0031211	Elevated cholesterol ester level	biolink:PhenotypicFeature	hp			Elevated cholesteryl ester level|Increased cholesterol esters|Increased cholesteryl esters	http://purl.obolibrary.org/obo/HP_0031211	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031212	
HP:0031213	Elevated circulating 17-hydroxyprogesterone	biolink:PhenotypicFeature	hp			Elevated circulating 17-OHP	http://purl.obolibrary.org/obo/HP_0031213	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031214	
HP:0031215	Decreased circulating dehydroepiandrosterone-sulfate level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031215	A reduced concentration of dehydroepiandrosterone-sulfate in the blood.
HP:0031216	Increased circulating progesterone	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031216	An elevated concentration of progesterone in the blood.
HP:0031217	Hot flashes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031217	Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.
HP:0031218	Inappropriate antidiuretic hormone secretion	biolink:PhenotypicFeature	hp			Inappropriate ADH secretion|SIADH|Syndrome of inappropriate antidiuretic hormone secretion	http://purl.obolibrary.org/obo/HP_0031218	A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.
HP:0031219	Reduced radioactive iodine uptake	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031219	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031220	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031221	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031222	An elevated concentration of thyroxine-binding globulin (TBG) in the blood.
HP:0031223	Focal pancreatic islet hyperplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031223	Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.
HP:0031224	Diffuse pancreatic islet hyperplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031224	Hyperplasia of the islets of Langerhans with a generalized distribution.
HP:0031225	Intrapulmonary shunt	biolink:PhenotypicFeature	hp			Intrapulmonary shunting	http://purl.obolibrary.org/obo/HP_0031225	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031226	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031227	A teratoma arising in the nasopharyngeal region.
HP:0031228	Abnormal incisura morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031228	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031229	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031230	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031231	Width of the incisura from the anterior to posterior border less than that observed in the average population.
HP:0031232	Increased incisura width	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031232	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	biolink:PhenotypicFeature	hp			Squaring of the inferior scapulae|Squaring of the scapula	http://purl.obolibrary.org/obo/HP_0031233	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031234	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031235	Collection of neutrophils in the epidermis.
HP:0031236	Predominantly dermal neutrophilic infiltrate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031236	Collection of neutrophils in the dermis.
HP:0031237	Internally nucleated skeletal muscle fibers	biolink:PhenotypicFeature	hp			Internally nucleated skeletal muscle fibres	http://purl.obolibrary.org/obo/HP_0031237	An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells).
HP:0031238	Necklace skeletal muscle fibers	biolink:PhenotypicFeature	hp			Necklace skeletal muscle fibres	http://purl.obolibrary.org/obo/HP_0031238	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031239	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031240	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031241	A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.
HP:0031242	Decreased circulating chylomicron concentration	biolink:PhenotypicFeature	hp			Decreased circulating chylomicron levels|Hypochylomicronemia	http://purl.obolibrary.org/obo/HP_0031242	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	biolink:PhenotypicFeature	hp			Decreased circulating very-low-density lipoprotein levels	http://purl.obolibrary.org/obo/HP_0031243	A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.
HP:0031244	Swollen lip	biolink:PhenotypicFeature	hp			Swelling of the lip	http://purl.obolibrary.org/obo/HP_0031244	Enlargement of the lip typically due to fluid buildup or inflammation.
HP:0031245	Productive cough	biolink:PhenotypicFeature	hp			Wet cough	http://purl.obolibrary.org/obo/HP_0031245	A cough that produces phlegm or mucus.
HP:0031246	Nonproductive cough	biolink:PhenotypicFeature	hp			Dry cough|Dry coughing	http://purl.obolibrary.org/obo/HP_0031246	A cough that does not produce phlegm or mucus.
HP:0031247	Whooping cough	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031247	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	biolink:PhenotypicFeature	hp			Itchy palm	http://purl.obolibrary.org/obo/HP_0031248	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	biolink:PhenotypicFeature	hp			Metallic taste in mouth|Metallic taste|Dysgeusia	http://purl.obolibrary.org/obo/HP_0031249	A distortion of the sense of taste, often characterized by the sensation of a metallic taste.
HP:0031250	Lip fissure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031250	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031251	Any anomaly of a subclavian artery.
HP:0031252	Dilated left subclavian artery	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031252	Abnormally increased caliber of the left subclavian artery.
HP:0031253	Anomalous origin of left subclavian artery	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031253	Origin of the left subclavian artery from an anomalous anatomical location.
HP:0031254	Thalamic arteriovenous malformation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031254	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031255	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031256	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031257	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031258	A state of sudden and severe confusion.
HP:0031259	Oophoritis	biolink:PhenotypicFeature	hp			Inflammed ovary	http://purl.obolibrary.org/obo/HP_0031259	An inflammation of the ovary or ovaries.
HP:0031260	Triangular tibia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031260	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031261	An abnormal growth that projects from the mucous membrane of the urinary bladder.
HP:0031263	Abnormal renal corpuscle morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031263	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	biolink:PhenotypicFeature	hp			Abnormal morphology of Bowman capsule|Abnormal morphology of Bowman's capsule|Abnormal renal glomerular capsule morphology	http://purl.obolibrary.org/obo/HP_0031264	A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.
HP:0031265	Abnormal glomerular visceral epithelial cell morphology	biolink:PhenotypicFeature	hp			Abnormal podocyte morphology|Abnormal visceral epithelial cell morphology	http://purl.obolibrary.org/obo/HP_0031265	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	biolink:PhenotypicFeature	hp			Loss of primary podocyte processes	http://purl.obolibrary.org/obo/HP_0031266	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031267	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031268	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031269	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	biolink:PhenotypicFeature	hp			Poor CD25 upregulation upon TCR activation|Reduced IL2RA upregulation upon TCR activation	http://purl.obolibrary.org/obo/HP_0031270	Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).
HP:0031271	Absent ankle pulse	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031271	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031272	Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.
HP:0031273	Shock	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031273	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031274	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031275	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031276	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031278	Any structural anomaly of the thoracic duct.
HP:0031279	Abnormal response to gonadotropin-releasing hormone stimulation test	biolink:PhenotypicFeature	hp			Abnormal response to GnRH stimulation test	http://purl.obolibrary.org/obo/HP_0031279	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031280	An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.
HP:0031281	Sialadenitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031281	Inflammation of a salivary gland.
HP:0031282	Malalignment of the great toenail	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031282	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031283	The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.
HP:0031284	Flushing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031284	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031285	Any structural anomaly in the areas surrounding the hair follicles.
HP:0031286	Perifollicular erythema	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031286	Redness surrounding the hair follicles.
HP:0031287	Seborrheic keratosis	biolink:PhenotypicFeature	hp			Senile wart|Basal cell papilloma|Seborrheic verruca	http://purl.obolibrary.org/obo/HP_0031287	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031288	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031289	A papule with white color.
HP:0031290	Tuberous xanthoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031290	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031291	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	biolink:PhenotypicFeature	hp			Skin abscess	http://purl.obolibrary.org/obo/HP_0031292	A circumscribed area of pus or necrotic debris in the skin.
HP:0031293	Digital pitting scar	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031293	Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.
HP:0031294	Hypoplastic right atrium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031294	Underdeveloped, small right heart atrium.
HP:0031295	Left atrial enlargement	biolink:PhenotypicFeature	hp	Fyler:3011|Fyler:3020		Enlarged heart left atrium	http://purl.obolibrary.org/obo/HP_0031295	Increase in size of the left atrium.
HP:0031296	Atrial septal hypertrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031296	An abnormal increase in the thickness of the atrial septum.
HP:0031297	Unroofed coronary sinus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031297	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	biolink:PhenotypicFeature	hp			Coronary sinus dilatation|Enlarged coronary sinus	http://purl.obolibrary.org/obo/HP_0031298	Abnormal increase in size of the coronary sinus.
HP:0031299	Elevated left atrial pressure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031299	An abnormal increase in magnitude of the pressure in the left atrium.
HP:0031300	Abnormal circulating properdin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031300	A deviation from the normal concentration of properdin in the blood.
HP:0031301	Peripheral arterial calcification	biolink:PhenotypicFeature	hp			Peripheral artery calcification	http://purl.obolibrary.org/obo/HP_0031301	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	biolink:PhenotypicFeature	hp			Lower extremity peripheral artery calcification	http://purl.obolibrary.org/obo/HP_0031302	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031303	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031304	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031305	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031306	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031307	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031308	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031309	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031310	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031311	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031313	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031314	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031315	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031316	A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.
HP:0031317	Fatty replacement of ventricular myocardial tissue	biolink:PhenotypicFeature	hp			Fatty infiltration of cardiac ventricle|Intramyocardial fat infiltration	http://purl.obolibrary.org/obo/HP_0031317	Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.
HP:0031318	Myofiber disarray	biolink:PhenotypicFeature	hp			Myocardial fiber disarray	http://purl.obolibrary.org/obo/HP_0031318	A nonparallel arrangement of cardiac myocytes.
HP:0031319	Cardiomyocyte hypertrophy	biolink:PhenotypicFeature	hp			Myocyte cellular hypertrophy	http://purl.obolibrary.org/obo/HP_0031319	An abnormal increase in the volume of cardiac myocytes.
HP:0031320	Cardiomyocyte mitochondrial proliferation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031320	An abnormal increase in the number of mitochondria per cardiac myocyte.
HP:0031321	Myocardial immune cell infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031321	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031322	An increase in the number of lymphocytes in myocardial tissue.
HP:0031323	Myocardial eosinophilic infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031323	An increase in the number of eosinophils in myocardial tissue.
HP:0031324	Myocardial multinucleated giant cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031324	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031325	The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.
HP:0031326	Monoclonal light chain cardiac amyloidosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031326	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	biolink:PhenotypicFeature	hp			TTR cardiac amyloidosis	http://purl.obolibrary.org/obo/HP_0031327	A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.
HP:0031328	Perivascular cardiac fibrosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031328	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.
HP:0031329	Interstitial cardiac fibrosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031329	A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.
HP:0031330	Perivascular myocardial immune cell infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031330	An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.
HP:0031331	Abnormal cardiomyocyte morphology	biolink:PhenotypicFeature	hp			Abnormal cardiac muscle cell morphology	http://purl.obolibrary.org/obo/HP_0031331	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031332	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	biolink:PhenotypicFeature	hp			Myocardial sarcomere disarray	http://purl.obolibrary.org/obo/HP_0031333	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031334	Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.
HP:0031335	Abnormal cardiomyocyte mitochondrial morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031335	An anomaly of the structure of mitochondria within cardiomyocytes.
HP:0031336	Intranuclear cardiomyocyte mitochondria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031336	Abnormal localization of mitochondria within the nuclei of cardiomyocytes.
HP:0031337	Abnormal cardiomyocyte connexin43 staining	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031337	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031338	Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.
HP:0031339	Abnormal cadiomyocyte dystrophin staining	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031339	Anomalous staining of dystrophin in cardiomyocytes.
HP:0031340	Abnormal lysosomal morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031340	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031341	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031342	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031343	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031344	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031345	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031346	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031347	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	biolink:PhenotypicFeature	hp	Fyler:0700|Fyler:700		D-TGA|D-loop transposition of the great arteries	http://purl.obolibrary.org/obo/HP_0031348	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	biolink:PhenotypicFeature	hp			L-TGA	http://purl.obolibrary.org/obo/HP_0031349	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031350	A malignant soft tissue neoplasm that arises from the heart.
HP:0031351	Calcified amorphous tumor of the heart	biolink:PhenotypicFeature	hp			Calcified amorphous tumour of the heart	http://purl.obolibrary.org/obo/HP_0031351	A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.
HP:0031352	Chest tightness	biolink:PhenotypicFeature	hp			Tightness in chest	http://purl.obolibrary.org/obo/HP_0031352	An unpleasant sensation of tightness or pressure in the chest.
HP:0031353	Otitis media with effusion	biolink:PhenotypicFeature	hp			Fluid behind eardrum	http://purl.obolibrary.org/obo/HP_0031353	Otitis media characterized by thick or sticky fluid behind the tympanic membrane.
HP:0031354	Sleep onset Insomnia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031354	Difficulty initiating sleep, that is, increased sleep onset latency.
HP:0031355	Maintenance insomnia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031355	Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.
HP:0031356	Terminal insomnia	biolink:PhenotypicFeature	hp			Late insomnia	http://purl.obolibrary.org/obo/HP_0031356	A type of insomnia characterized by waking up (too) early in the morning.
HP:0031357	Glomeruloid hemangioma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031357	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031358	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031359	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031360	A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.
HP:0031361	Zebra bodies	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031361	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:0031362	Sex-limited autosomal recessive inheritance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031362	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 homozygotes in a sex-specific manner (i.e. only in males or only in females).
HP:0031363	Palpable purpura	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031363	A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).
HP:0031364	Ecchymosis	biolink:PhenotypicFeature	hp			Ecchymoses	http://purl.obolibrary.org/obo/HP_0031364	A purpuric lesion that is larger than 1 cm in diameter.
HP:0031365	Macular purpura	biolink:PhenotypicFeature	hp			Flat purpura	http://purl.obolibrary.org/obo/HP_0031365	Purpura that is flat (non-palpable, not raised).
HP:0031366	Palate neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031366	A neoplasm that affects the hard palate, soft palate, or uvula.
HP:0031367	Metaphyseal striations	biolink:PhenotypicFeature	hp			Striated metaphysis	http://purl.obolibrary.org/obo/HP_0031367	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031368	A hole (perforation) in the wall of the intestine.
HP:0031369	Colon perforation	biolink:PhenotypicFeature	hp			Perforation of the colon	http://purl.obolibrary.org/obo/HP_0031369	A hole (perforation) in the wall of the colon.
HP:0031370	Small intestinal perforation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031370	A hole (perforation) in the wall of the small intestine.
HP:0031371	Rectal perforation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031371	A hole (perforation) in the wall of the rectum.
HP:0031372	Cold paresis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031372	Increased muscle weakness upon exposure to cold temperatures.
HP:0031373	Stiff tongue	biolink:PhenotypicFeature	hp			Tongue stiffness	http://purl.obolibrary.org/obo/HP_0031373	Increased rigidity and reduced mobility of the tongue.
HP:0031374	Ankle weakness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031374	Reduced strength of the muscles that lift or otherwise move the foot at the ankle.
HP:0031375	Refractory	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031375	Applies to a sign or symptom that is difficult to treat or cure.
HP:0031377	Abnormal cell proliferation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031377	Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.
HP:0031378	Abnormal lymphocyte proliferation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031378	Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.
HP:0031379	Abnormal T cell proliferation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031379	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031380	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	biolink:PhenotypicFeature	hp			Reduced lymphocyte proliferation to mitogen	http://purl.obolibrary.org/obo/HP_0031381	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	biolink:PhenotypicFeature	hp			Defective lymphocyte proliferation to anti-CD3|Defective proliferation of lymphocytes following anti-CD3 stimulation	http://purl.obolibrary.org/obo/HP_0031382	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031383	Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.
HP:0031384	Reduced T cell CD40 expression	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031384	A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.
HP:0031385	Megakaryocyte nucleus hypolobulation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031385	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031386	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031387	The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.
HP:0031388	Megakaryocyte nucleus hyperlobulation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031388	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031389	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031390	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031391	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	biolink:PhenotypicFeature	hp			Abnormal proportion of CD4+ T cells|Abnormal proportion of CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031392	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	biolink:PhenotypicFeature	hp			Abnormal proportion of CD8+ T cells|Abnormal proportion of CD8-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031393	Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.
HP:0031394	Abnormal CD4:CD8 ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031394	Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.
HP:0031396	Abnormal proportion of naive T cells	biolink:PhenotypicFeature	hp			Abnormal naive T cell proportion|Abnormal proportion of naive thymus-derived, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031396	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	biolink:PhenotypicFeature	hp			Decreased proportion of naive thymus-derived, alpha-beta T cells|Reduced proportion of naive T cells	http://purl.obolibrary.org/obo/HP_0031397	An abnormally decreased proportion of naive T cells relative to the total number of T cells.
HP:0031398	Increased proportion of naive T cells	biolink:PhenotypicFeature	hp			Elevated proportion of naive T cells|Increased proportion of naive thymus-derived, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0031398	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	biolink:PhenotypicFeature	hp			Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution|Abnormal DN Treg distribution|Abnormal Double negative Treg distribution|Abnormal double-negative alpha-beta regulatory T cell distribution	http://purl.obolibrary.org/obo/HP_0031399	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031401	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	biolink:PhenotypicFeature	hp			Impaired Ag-specific T cell proliferation|Impaired cellular adaptive immune response|Antigen-specific T cell proliferation defect|Impaired activated T cell proliferation	http://purl.obolibrary.org/obo/HP_0031402	Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.
HP:0031403	Impaired pathogen-specific CD8 cytoxicity	biolink:PhenotypicFeature	hp			Pathogen-specific CD8 cytoxicity defect	http://purl.obolibrary.org/obo/HP_0031403	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	biolink:PhenotypicFeature	hp			Impaired adaptive immune response	http://purl.obolibrary.org/obo/HP_0031404	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031405	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	biolink:PhenotypicFeature	hp			Abnormal cytokine signalling	http://purl.obolibrary.org/obo/HP_0031406	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	biolink:PhenotypicFeature	hp			Impaired cytokine signalling|Cytokine signaling defect	http://purl.obolibrary.org/obo/HP_0031407	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031408	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031409	Any anomaly of lymphocyte function.
HP:0031410	Abnormal distribution of CD56 bright/dim natural killer cells	biolink:PhenotypicFeature	hp			Abnormal distribution of CD56 bright/dim NK cells	http://purl.obolibrary.org/obo/HP_0031410	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	biolink:PhenotypicFeature	hp	Fyler:4013			http://purl.obolibrary.org/obo/HP_0031411	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031412	
HP:0031413	Short telomere length	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031413	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	biolink:PhenotypicFeature	hp			High serum 25-hydroxycholecalciferol|High serum calcidiol	http://purl.obolibrary.org/obo/HP_0031414	An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.
HP:0031415	High serum calcitriol	biolink:PhenotypicFeature	hp	UMLS:C1833331		High serum 1,25-dihydroxycholecalciferol|High serum 1,25-dihydroxyvitamin D3|Increased serum 1,25-dihydroxyvitamin D3|Increased serum calcitriol	http://purl.obolibrary.org/obo/HP_0031415	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031416	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	biolink:PhenotypicFeature	hp			Nasal Discharge|Runny Nose	http://purl.obolibrary.org/obo/HP_0031417	Increased discharge of mucus from the nose.
HP:0031418	Increased body mass index	biolink:PhenotypicFeature	hp			Increased BMI	http://purl.obolibrary.org/obo/HP_0031418	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	biolink:PhenotypicFeature	hp			Reduced androgen-binding protein level	http://purl.obolibrary.org/obo/HP_0031419	A decreased concentration of sex-hormone binding protein in the circulation.
HP:0031420	Small yellow foveal lesion with surrounding gray zone	biolink:PhenotypicFeature	hp			Small yellow foveal lesion with surrounding grey zone|Laser pointer-induced maculopathy|Laser pointer-induced retinopathy|Light induced retinopathy|Photic retinopathy|Solar retinitis|Solar retinopathy	http://purl.obolibrary.org/obo/HP_0031420	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031421	Reduced size of the superior frontal portion of the cerebral cortex.
HP:0031422	Abnormal morphology of the cerebellar cortex	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031422	Any structural anomaly of the cortex of the cerebellum.
HP:0031423	Small cerebellar cortex	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031423	Reduced size of the cerebellar cortex.
HP:0031424	Abnormal circulating beta-C-terminal telopeptide level	biolink:PhenotypicFeature	hp			Abnormal circulating beta-CTx level|Abnormal circulating beta-CrossLaps level	http://purl.obolibrary.org/obo/HP_0031424	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 level	biolink:PhenotypicFeature	hp			Increased circulating beta-CTx level|Increased circulating beta-CrossLaps level	http://purl.obolibrary.org/obo/HP_0031425	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 level	biolink:PhenotypicFeature	hp			Decreased circulating beta-CTx level|Decreased circulating beta-CrossLaps level	http://purl.obolibrary.org/obo/HP_0031426	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031427	A deviation from the normal concentration of osteocalcin in the blood circulation.
HP:0031428	Increased circulating osteocalcin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031428	An elevated level of osteocalcin in the blood.
HP:0031429	Decreased circulating osteocalcin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031429	A reduced level of osteocalcin in the blood.
HP:0031430	Oligoclonal T cell expansion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031430	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031431	Repetitive use of words, phrases, intonation, or sounds of speech, often of the speech of others.
HP:0031432	Persistent repetition of actions	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031432	Repeated and inappropriate mechanical repetition of actions.
HP:0031433	Alexithymia	biolink:PhenotypicFeature	hp			Unaware of others' emotions	http://purl.obolibrary.org/obo/HP_0031433	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 speech prosody	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031434	An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.
HP:0031435	Monotonic speech	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031435	A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.
HP:0031436	Increased pitch variability of speech	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031436	A speech pattern characterized by abnormally elevated variability of the pitch of the voice.
HP:0031437	Pregnancy exposure	biolink:PhenotypicFeature	hp			Exposure during pregnancy	http://purl.obolibrary.org/obo/HP_0031437	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031438	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031439	A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.
HP:0031440	obsolete Abnormal tricuspid valve morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031440	
HP:0031441	Abnormal tricuspid valve annulus morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031441	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031442	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031443	Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.
HP:0031444	Dilatation of the tricuspid annulus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031444	An increase in the diameter of the ring (annulus) of the tricuspid valve.
HP:0031445	Oral mucosa nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031445	A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.
HP:0031446	Erosion of oral mucosa	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031446	Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.
HP:0031447	Penile freckling	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031447	Multiple pigmented macules located on the skin of the penis.
HP:0031448	Herpetiform vesicles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031448	Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.
HP:0031449	Perineal hemangioma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031449	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031450	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031451	An abnormal increase in the amount of subcutaneous fat in the legs.
HP:0031452	Lichenoid skin lesion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031452	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031453	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031454	A cystic lesions that forms a benign tumor of an apocrine sweat gland.
HP:0031455	Presacral ganglioneuroma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031455	A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.
HP:0031456	Ectopic pregnancy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031456	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031457	Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image).
HP:0031458	Adenoiditis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031458	An inflammation of the adenoid tissue.
HP:0031459	Soft tissue neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031459	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031460	A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].
HP:0031461	Intramuscular Myxoma	biolink:PhenotypicFeature	hp			IM Myxoma	http://purl.obolibrary.org/obo/HP_0031461	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031462	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031463	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031464	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031465	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031466	A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.
HP:0031467	Negative affectivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031467	A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.
HP:0031468	Separation insecurity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031468	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031469	Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.
HP:0031472	Risk taking	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031472	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 of personal danger.
HP:0031473	Hostility	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031473	Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.
HP:0031474	Pulmonary chondroma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031474	A benign cartilaginous tumors of the lung.
HP:0031475	Status epilepticus without prominent motor symptoms	biolink:PhenotypicFeature	hp			Nonconvulsive status epilepticus	http://purl.obolibrary.org/obo/HP_0031475	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031476	Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).
HP:0031477	obsolete Abnormal mitral valve morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031477	
HP:0031478	Abnormal mitral valve annulus morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031478	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031479	An increase in the diameter of the ring (annulus) of the mitral valve.
HP:0031480	Abnormal mitral valve leaflet morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031480	Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.
HP:0031481	Abnormal mitral valve physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031481	Any functional anomaly of the mitral valve.
HP:0031482	Abnormal regional left ventricular contraction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031482	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031483	Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.
HP:0031484	Cold-induced hemolysis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031484	A form of hemolytic anemia that can be triggered by cold temperatures.
HP:0031485	Subperiosteal bone formation	biolink:PhenotypicFeature	hp			Periosteal reaction	http://purl.obolibrary.org/obo/HP_0031485	The formation of new bone along the cortex and underneath the periosteum of a bone.
HP:0031486	Vascular malformation of the lip	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031486	An anomaly of blood vessels located in the lip.
HP:0031487	Capillary malformation of the lip	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031487	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	biolink:PhenotypicFeature	hp			Atypical connection between arteries and veins	http://purl.obolibrary.org/obo/HP_0031488	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031489	A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.
HP:0031490	Hemangioma of the lip	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031490	A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.
HP:0031491	Continuous spike and waves during slow sleep	biolink:PhenotypicFeature	hp			CSWS	http://purl.obolibrary.org/obo/HP_0031491	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031492	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031493	A tumor that arises from a gland cell.
HP:0031494	Ovarian mucinous tumor	biolink:PhenotypicFeature	hp			Ovarian mucinous tumour|Mucinous neoplasm of the ovary	http://purl.obolibrary.org/obo/HP_0031494	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031495	
HP:0031496	Mucinous cystic neoplasm of the pancreas	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031496	Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.
HP:0031497	Mucinous colorectal carcinoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031497	A subtype of colorectal carcinoma with mucin lakes.
HP:0031498	Mucinous gastric carcinoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031498	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031499	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031500	An abnormal enlargement or swelling in the abdomen.
HP:0031501	Pelvic mass	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031501	An abnormal enlargement or swelling in the pelvic region.
HP:0031502	Trophoblastic tumor	biolink:PhenotypicFeature	hp			Trophoblastic tumour	http://purl.obolibrary.org/obo/HP_0031502	A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].
HP:0031503	Night gasping	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031503	Waking up at night gasping for breath.
HP:0031504	Foamy urine	biolink:PhenotypicFeature	hp			Frothy urine	http://purl.obolibrary.org/obo/HP_0031504	Urine has an increased amount of frothy fine bubbles.
HP:0031505	Abnormal circulating T4 level	biolink:PhenotypicFeature	hp			Abnormal circulating thyroxine level	http://purl.obolibrary.org/obo/HP_0031505	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 level	biolink:PhenotypicFeature	hp			Increased circulating thyroxine level	http://purl.obolibrary.org/obo/HP_0031506	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 level	biolink:PhenotypicFeature	hp			Reduced T4 plasma level|Decreased circulating thyroxine level	http://purl.obolibrary.org/obo/HP_0031507	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 thyroid hormone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031508	Any deviation from the normal range of the hormones produced by the thyroid gland.
HP:0031509	Dry nipple	biolink:PhenotypicFeature	hp			Abnormally dry skin in the area of the nipple of the breast.	http://purl.obolibrary.org/obo/HP_0031509	
HP:0031510	Linear earlobe crease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031510	A transverse linear fissure (crease) in the lobule of the ear.
HP:0031511	Diagonal earlobe crease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031511	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031512	
HP:0031513	Luse bodies	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031513	Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.
HP:0031514	Increased proportion of exhausted T cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031514	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031515	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	biolink:PhenotypicFeature	hp			Metaphase I oocyte meiotic arrest|Oocyte meiotic arrest at metaphase I	http://purl.obolibrary.org/obo/HP_0031516	Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.
HP:0031517	Verruciform xanthoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031517	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031518	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031519	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031520	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.
HP:0031521	Vaginal clear cell adenocarcinoma	biolink:PhenotypicFeature	hp			Clear cell adenocarcinoma of the vagina	http://purl.obolibrary.org/obo/HP_0031521	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	biolink:PhenotypicFeature	hp			Clear cell carcinoma of cervix	http://purl.obolibrary.org/obo/HP_0031522	A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.
HP:0031523	Salivary gland oncocytoma	biolink:PhenotypicFeature	hp			Parotid oncocytoma	http://purl.obolibrary.org/obo/HP_0031523	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031524	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031525	Keratoacanthoma (KA) is a common benign epithelial tumour 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	biolink:PhenotypicFeature	hp			Sub-retinal fluid	http://purl.obolibrary.org/obo/HP_0031526	Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.
HP:0031527	Intraretinal fluid	biolink:PhenotypicFeature	hp			Intra-retinal fluid	http://purl.obolibrary.org/obo/HP_0031527	Edema/fluid accumulating within the retinal layers.
HP:0031528	Subretinal deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031528	Deposits accumulating between the outer retina and the retinal pigment epithelium.
HP:0031529	Focal subretinal deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031529	Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.
HP:0031530	Multifocal subretinal deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031530	Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.
HP:0031531	Sub-RPE deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031531	Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.
HP:0031532	Focal sub-RPE deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031532	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031533	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031534	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031535	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031536	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031537	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031538	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031539	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031540	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031541	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	biolink:PhenotypicFeature	hp			Myelin-like whorls in vacuolated fibres	http://purl.obolibrary.org/obo/HP_0031542	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	biolink:PhenotypicFeature	hp			Elevated circulating O-propionylcarnitine concentration|Elevated plasma palmitoleylcarnitine, C16:1|Elevated plasma propionylcarnitine, C3:0|Elevated propionylcarnitine level	http://purl.obolibrary.org/obo/HP_0031544	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031545	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	biolink:PhenotypicFeature	hp			Abnormality of cardiac conduction|Abnormality of cardiac conduction system|Cardiac conduction abnormalities|Cardiac conduction defects|Heart conduction disorder	http://purl.obolibrary.org/obo/HP_0031546	Any anomaly of the progression of electrical impulses through the heart.
HP:0031547	Abnormal QT interval	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031547	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	biolink:PhenotypicFeature	hp			Follicular infundibulum tumour|Basal cell hamartoma with follicular differentiation	http://purl.obolibrary.org/obo/HP_0031548	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	biolink:PhenotypicFeature	hp			Skin pseudolymphoma|Spiegler-Fendt sarcoid	http://purl.obolibrary.org/obo/HP_0031549	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031550	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031551	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031552	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031553	Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.
HP:0031554	Reduced granulocyte CD55 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031554	Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.
HP:0031555	Reduced granulocyte CD59 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031555	Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.
HP:0031556	Reduced granulocyte CD16 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031556	Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.
HP:0031557	Reduced fibroblast CD55 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031557	Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.
HP:0031558	Reduced fibroblast CD59 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031558	Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.
HP:0031559	Reduced fibroblast CD16 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031559	Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.
HP:0031560	Coronary cameral fistula	biolink:PhenotypicFeature	hp	Fyler:2233			http://purl.obolibrary.org/obo/HP_0031560	An abnormal communication between coronary artery and a cardiac chamber.
HP:0031561	Coronary cameral fistula to right ventricle	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031561	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	biolink:PhenotypicFeature	hp	Fyler:2780			http://purl.obolibrary.org/obo/HP_0031562	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	biolink:PhenotypicFeature	hp	Fyler:2240			http://purl.obolibrary.org/obo/HP_0031563	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031564	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	biolink:PhenotypicFeature	hp	Fyler:3817			http://purl.obolibrary.org/obo/HP_0031565	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	biolink:PhenotypicFeature	hp	Fyler:1652			http://purl.obolibrary.org/obo/HP_0031566	Any structural anomaly of the pulmonary valve leaflets.
HP:0031567	Abnormal aortic valve cusp morphology	biolink:PhenotypicFeature	hp	Fyler:1480			http://purl.obolibrary.org/obo/HP_0031567	Any structural anomaly of the aortic valve leaflets.
HP:0031568	Thickened aortic valve cusp	biolink:PhenotypicFeature	hp	Fyler:1486			http://purl.obolibrary.org/obo/HP_0031568	An abnormally increased thickness of a leaflet of the aortic valve.
HP:0031569	Absent aortic valve cusps	biolink:PhenotypicFeature	hp	Fyler:1484		Absent aortic valve	http://purl.obolibrary.org/obo/HP_0031569	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	biolink:PhenotypicFeature	hp			Tessier facial cleft number 0	http://purl.obolibrary.org/obo/HP_0031570	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031571	A type of facial cleft located near to but not directly on the midline of the face.
HP:0031572	Tessier number 1 facial cleft	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031572	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031573	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031574	A facial cleft characterized by involvement of the orbit.
HP:0031575	Tessier number 3 facial cleft	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031575	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031576	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031577	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	biolink:PhenotypicFeature	hp			Tessier facial cleft number 6	http://purl.obolibrary.org/obo/HP_0031578	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	biolink:PhenotypicFeature	hp			Tessier cleft number 7|Tessier facial cleft number 7	http://purl.obolibrary.org/obo/HP_0031579	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	biolink:PhenotypicFeature	hp			Tessier facial cleft number 8	http://purl.obolibrary.org/obo/HP_0031580	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031581	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031582	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031583	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031584	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031585	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	biolink:PhenotypicFeature	hp			Tessier facial cleft number 14	http://purl.obolibrary.org/obo/HP_0031586	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031587	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	biolink:PhenotypicFeature	hp			Unhappy demeanour	http://purl.obolibrary.org/obo/HP_0031588	A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.
HP:0031589	Suicidal ideation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031589	Frequent thinking about or preoccupation with killing onself.
HP:0031590	Asthenopia	biolink:PhenotypicFeature	hp			Eye strain	http://purl.obolibrary.org/obo/HP_0031590	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	biolink:PhenotypicFeature	hp			Enlarged inferior vena cava valve|Giant Eustachian valve	http://purl.obolibrary.org/obo/HP_0031591	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031592	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031593	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	biolink:PhenotypicFeature	hp			PR interval depression|PTa depression	http://purl.obolibrary.org/obo/HP_0031594	A reduction in voltage of the PR segment below baseline.
HP:0031595	Abnormal P wave	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031595	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031596	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	biolink:PhenotypicFeature	hp			PR interval elevation|PTa elevation	http://purl.obolibrary.org/obo/HP_0031597	An increase in voltage of the PR segment above baseline.
HP:0031598	Notched P wave	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031598	V-shaped cut (notch) in the middle of the P wave.
HP:0031599	P mitrale	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031599	A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.
HP:0031600	P wave inversion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031600	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031601	The presence of tall, peaked P waves in EKG lead II.
HP:0031602	Abnormal mucociliary clearance	biolink:PhenotypicFeature	hp			Abnormal mucociliary transport	http://purl.obolibrary.org/obo/HP_0031602	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	biolink:PhenotypicFeature	hp			Abnormal saccharine test	http://purl.obolibrary.org/obo/HP_0031603	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	biolink:PhenotypicFeature	hp			Bony carotid canal agenesis	http://purl.obolibrary.org/obo/HP_0031604	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031605	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031606	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031607	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031609	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	biolink:PhenotypicFeature	hp			Multiple shoulder dislocation	http://purl.obolibrary.org/obo/HP_0031610	Shoulder dislocation occurring repeated times.
HP:0031611	Sub-inner limiting membrane hemorrhage	biolink:PhenotypicFeature	hp			Sub-ILM hemorrhage|Sub-ILM haemorrhage|Sub-inner limiting membrane haemorrhage	http://purl.obolibrary.org/obo/HP_0031611	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031613	Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.
HP:0031614	Inferior retinal coloboma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031614	A notch or cleft of the lower part of the retina.
HP:0031615	Hypopyon	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031615	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031616	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+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031618	Faint anterior chamber flare.
HP:0031619	Anterior chamber flare grade 2+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031619	Moderate anterior chamber flare (iris and lens details clear).
HP:0031620	Anterior chamber flare grade 3+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031620	Marked anterior chamber flare (iris and lens details hazy).
HP:0031621	Anterior chamber flare grade 4+	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031621	Intense anterior chamber flare (fibrin/plastic aqueous).
HP:0031622	Brown anomaly	biolink:PhenotypicFeature	hp			Brown syndrome	http://purl.obolibrary.org/obo/HP_0031622	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	biolink:PhenotypicFeature	hp			Drooping brow	http://purl.obolibrary.org/obo/HP_0031623	Drooping of the upper eyebrow below the superior orbital rim.
HP:0031624	Moderate myopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031624	A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.
HP:0031625	Pseudoaneurysm	biolink:PhenotypicFeature	hp			A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.	http://purl.obolibrary.org/obo/HP_0031625	
HP:0031626	Coronary ostial atresia	biolink:PhenotypicFeature	hp			Atresia of coronary ostium	http://purl.obolibrary.org/obo/HP_0031626	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031627	Pathological deposition of calcium salts in the globus pallidus.
HP:0031628	Aborted sudden cardiac death	biolink:PhenotypicFeature	hp			Sudden cardiac arrest	http://purl.obolibrary.org/obo/HP_0031628	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	biolink:PhenotypicFeature	hp			Clumsy tandem walking	http://purl.obolibrary.org/obo/HP_0031629	Reduced ability to walk in a straight line while placing the feet heel to toe.
HP:0031630	Abnormal subpleural morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031630	Any structural anomaly located between the pleura and the chest wall.
HP:0031631	Subpleural honeycombing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031631	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031632	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	biolink:PhenotypicFeature	hp	Fyler:2732			http://purl.obolibrary.org/obo/HP_0031633	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031634	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	biolink:PhenotypicFeature	hp			Anomalous origin of the left common carotid artery from the brachiocephalic trunk	http://purl.obolibrary.org/obo/HP_0031635	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031636	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031637	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031638	The left anterior descending artery (LAD) branches off from the pulmonary artery.
HP:0031639	Absent left main coronary artery	biolink:PhenotypicFeature	hp			Absent LMCA	http://purl.obolibrary.org/obo/HP_0031639	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031640	Any structural anomaly of the radial artery.
HP:0031643	Fusiform ascending tubular aorta aneurysm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031643	An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.
HP:0031644	Fusiform abdominal aortic aneurysm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031644	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031645	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031646	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031647	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031648	A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.
HP:0031649	Aortic rupture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031649	Tearing of the aortic wall generally associated with profuse internal bleeding.
HP:0031650	Abnormal atrioventricular valve physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031650	Any functional defect of the mitral or tricuspid valve.
HP:0031651	Abnormal tricuspid valve physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031651	Any functional defect of the tricuspid valve.
HP:0031652	Abnormal aortic valve physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031652	
HP:0031653	Abnormal heart valve physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031653	Any functional abnormality of a cardiac valve.
HP:0031654	Abnormal pulmonary valve physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031654	Any functional anomaly of the pumonary valve.
HP:0031655	Quadricuspid aortic valve	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031655	The presence of an aortic valve with four instead of the normal three cusps (flaps).
HP:0031656	Systolic anterior motion of the mitral valve	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031656	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031657	Any abnormal noise generated by the beating heart.
HP:0031658	Third heart sound	biolink:PhenotypicFeature	hp			S3|Ventricular gallop	http://purl.obolibrary.org/obo/HP_0031658	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	biolink:PhenotypicFeature	hp			S4|Atrial gallop|Presystolic gallop	http://purl.obolibrary.org/obo/HP_0031659	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031660	Abnormally increased volume of the first heart sound.
HP:0031661	Abnormal second heart sound	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031661	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	biolink:PhenotypicFeature	hp			Fixed splitting of S2	http://purl.obolibrary.org/obo/HP_0031662	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	biolink:PhenotypicFeature	hp			Paradoxical splitting of S2|Reversed splitting of S2|Reversed splitting of the second heart sound	http://purl.obolibrary.org/obo/HP_0031663	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031664	A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.
HP:0031665	Midsystolic murmur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031665	A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.
HP:0031666	Late systolic murmur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031666	A murmur that occurs in the latter phase of systole.
HP:0031667	Holosystolic murmur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031667	A heart murmur that occurs during the entire systolic phase from S1 to S2.
HP:0031668	Diastolic heart murmur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031668	A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.
HP:0031669	Middiastolic murmur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031669	A murmur that occurs in the middle of the diastolic phase.
HP:0031670	Continuous heart murmur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031670	A murmur that occurs in both systole and diastole.
HP:0031671	Typical atrial flutter	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031671	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031672	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	biolink:PhenotypicFeature	hp			Orthodromic AVRT	http://purl.obolibrary.org/obo/HP_0031673	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	biolink:PhenotypicFeature	hp			Antidromic AVRT	http://purl.obolibrary.org/obo/HP_0031674	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031675	A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).
HP:0031676	Monomorphic ventricular tachycardia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031676	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031677	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031678	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031679	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031680	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031681	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031682	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031683	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031684	An atherosclerotic lesion located in the renal artery.
HP:0031685	Abnormal stool composition	biolink:PhenotypicFeature	hp			Abnormal faeces composition|Abnormal feces composition	http://purl.obolibrary.org/obo/HP_0031685	
HP:0031686	Increased stool alpha1-antitrypsin concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031686	An abnormally elevated amount of alpha1-antitrypsin in the feces.
HP:0031687	Abnormally loud pulmonic component of the second heart sound	biolink:PhenotypicFeature	hp			Accentuation of the pulmonic component of the second heart sound	http://purl.obolibrary.org/obo/HP_0031687	
HP:0031688	Erythroid dysplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031688	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	biolink:PhenotypicFeature	hp			Dysmegakaryopoiesis	http://purl.obolibrary.org/obo/HP_0031689	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031690	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031691	An unusually severe viral infection.
HP:0031692	Severe cytomegalovirus infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031692	An unusually severe infection by cytomegalovirus.
HP:0031693	Severe Epstein Barr virus infection	biolink:PhenotypicFeature	hp			Fulminant infectious mononucleosis|Severe EBV infection	http://purl.obolibrary.org/obo/HP_0031693	An unusually severe Epstein Barr virus (EBV) infection.
HP:0031694	Severe adenovirus infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031694	An unusually severe adenovirus infection.
HP:0031695	Severe parainfluenza infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031695	An unusually severe infection by a parainfluenza virus.
HP:0031696	Disseminated viral infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031696	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031697	A dissemination viral infection caused by a live attenuated vaccine virus.
HP:0031698	obsolete Disseminated Bacillus Calmette-Guerin infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031698	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:0031699	Disseminated cryptosporidium infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031699	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031700	A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.
HP:0031701	Anterior chamber inflammatory cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031701	The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.
HP:0031702	Anterior chamber red blood cells	biolink:PhenotypicFeature	hp			Anterior chamber RBCs	http://purl.obolibrary.org/obo/HP_0031702	The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.
HP:0031703	Abnormal ear morphology	biolink:PhenotypicFeature	hp	Fyler:4867			http://purl.obolibrary.org/obo/HP_0031703	Any structural anomaly of the ear.
HP:0031704	Abnormal ear physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031704	Any functional anomaly of the ear.
HP:0031705	Compensatory head posture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031705	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031706	A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.
HP:0031707	Compensatory face turn to the right	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031707	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031708	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031709	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031710	A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.
HP:0031711	Asymmetric abdominal aortic aneurysm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031711	An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).
HP:0031713	Constant exotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031713	A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.
HP:0031714	Distance exotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031714	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031715	An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).
HP:0031716	Cyclic exotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031716	A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.
HP:0031717	Alternating exotropia	biolink:PhenotypicFeature	hp			Alternating strabismus	http://purl.obolibrary.org/obo/HP_0031717	A type of exotropia in which either eye may be used for fixation.
HP:0031718	Consecutive exotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031718	Exotropia in an individual who has previously had esotropia or esophoria.
HP:0031719	True distance exotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031719	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031720	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	biolink:PhenotypicFeature	hp			Secondary exotropia	http://purl.obolibrary.org/obo/HP_0031721	A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.
HP:0031722	Near esotropia	biolink:PhenotypicFeature	hp			Non-accomodative convergence excess esotropia	http://purl.obolibrary.org/obo/HP_0031722	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	biolink:PhenotypicFeature	hp			Sensory esotropia	http://purl.obolibrary.org/obo/HP_0031723	Convergent squint which follows loss or impairment of vision.
HP:0031724	Microtropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031724	A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.
HP:0031725	Hypophoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031725	A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.
HP:0031726	Incyclotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031726	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031727	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	biolink:PhenotypicFeature	hp			Mild hyperopia	http://purl.obolibrary.org/obo/HP_0031728	A form of hypermetropia with not more than +2.00 diopters.
HP:0031729	Moderate hypermetropia	biolink:PhenotypicFeature	hp			Moderate hyperopia	http://purl.obolibrary.org/obo/HP_0031729	A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.
HP:0031730	Axial myopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031730	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031731	Increased lacrimation owing to overproduction of tears.
HP:0031732	Increased basal tear production	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031732	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031733	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031734	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031736	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031737	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031738	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031739	A functional anomaly of the inferior or superior oblique muscle.
HP:0031740	Abnormal horizontal rectus muscle physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031740	A functional anomaly of the medial rectus muscle or lateral rectus muscle.
HP:0031741	Inferior oblique muscle underaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031741	Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031742	Inferior rectus muscle underaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031742	Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031743	Inferior rectus muscle overaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031743	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031744	Decreased strength of the superior rectus muscle.
HP:0031745	Superior rectus muscle overaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031745	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031746	Mechanical limitation of the range of movement of the superior rectus muscle.
HP:0031747	Superior rectus muscle underaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031747	Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031748	Abnormal vertical rectus muscle physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031748	A functional anomaly of the superior or inferior rectus muscle.
HP:0031749	Abnormal lateral rectus muscle physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031749	A functional anomaly of the lateral rectus muscle.
HP:0031750	Lateral rectus muscle weakness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031750	Decreased strength (ability to move) of the lateral rectus muscle.
HP:0031751	Lateral rectus muscle underaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031751	Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031752	Lateral rectus muscle overaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031752	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031753	Decreased strength of the medial rectus muscle.
HP:0031754	Medial rectus muscle overaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031754	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031755	A functional anomaly of a vertical or horizontal rectus muscle.
HP:0031756	Medial rectus muscle underaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031756	Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
HP:0031757	Medial rectus muscle restriction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031757	Mechanical limitation of the range of movement of the medial rectus muscle.
HP:0031758	Lateral rectus muscle restriction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031758	Mechanical limitation of the range of movement of the lateral rectus muscle.
HP:0031759	Basic constant esotropia	biolink:PhenotypicFeature	hp			Basic (constant) esotropia	http://purl.obolibrary.org/obo/HP_0031759	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031760	A form of esotropia in which the angle of deviation is not affected by accommodative effort.
HP:0031761	Infantile constant esotropia	biolink:PhenotypicFeature	hp			Infantile (constant) esotropia	http://purl.obolibrary.org/obo/HP_0031761	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	biolink:PhenotypicFeature	hp			Divergence insufficiency	http://purl.obolibrary.org/obo/HP_0031762	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031763	Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.
HP:0031764	Fully accomodative esotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031764	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	biolink:PhenotypicFeature	hp			Constant esotropia with an accommodative component|Constant esotropia with an accommodative element	http://purl.obolibrary.org/obo/HP_0031765	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031766	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031767	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031768	Fixation of an object in the area adjacent to the fovea.
HP:0031769	Peripheral fixation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031769	Fixation of an object in a peripheral area of the retina.
HP:0031770	Epicanthus palpebralis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031770	A type of epicanthus in which a medial vertical fold is present between upper and lower lids.
HP:0031771	Epicanthus tarsalis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031771	A type of epicanthus in which a primarily upper lid fold is present.
HP:0031772	Abnormal posterior circulating artery morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031772	Any structural anomaly of the posterior circulating artery (PCOM).
HP:0031773	Posterior communicating artery aneurysm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031773	A widening (ballooning) localized in the wall of the posterior communicating artery.
HP:0031774	Posterior communicating artery infundibulum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031774	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	biolink:PhenotypicFeature	hp			Paralytic strabismus	http://purl.obolibrary.org/obo/HP_0031775	An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.
HP:0031776	Cyclotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031776	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031777	A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.
HP:0031778	Incyclophoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031778	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031779	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031780	A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.
HP:0031781	Microtropia with identity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031781	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031782	A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.
HP:0031783	Absent coronary sinus	biolink:PhenotypicFeature	hp	Fyler:2841			http://purl.obolibrary.org/obo/HP_0031783	A developmental defect in which the coronary sinus fails to form.
HP:0031784	Abnormal ascending aorta morphology	biolink:PhenotypicFeature	hp	Fyler:1431			http://purl.obolibrary.org/obo/HP_0031784	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031785	An abnormality in voluntary or involuntary eyelid movements or their control.
HP:0031786	Cogan lid twitch	biolink:PhenotypicFeature	hp			Cogan eyelid twitch|Eyelid twitch|Lid twitch	http://purl.obolibrary.org/obo/HP_0031786	Transient eyelid retraction during refixation from down to straight ahead.
HP:0031787	Oblique astigmatism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031787	Astigmatism in which the refractive power of the vertical meridian is the greatest.
HP:0031788	With the rule astigmatism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031788	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031789	Astigmatism with more plus power on the horizontal meridian.
HP:0031790	Mixed astigmatism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031790	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031791	A type of astigmatism related to an irregular shape of the lens.
HP:0031792	Irregular astigmatism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031792	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	biolink:PhenotypicFeature	hp			Elevated circulating leptin level	http://purl.obolibrary.org/obo/HP_0031793	An increased concentration of leptin in the blood.
HP:0031794	Decreased circulating glycerol level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031794	A decrease below the normal concentration of glycerol in the blood.
HP:0031795	Abnormal circulating glycerol level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031795	Any deviation from the normal concentration of glycerol in the blood.
HP:0031796	Recurrent	biolink:PhenotypicFeature	hp			Intermittent	http://purl.obolibrary.org/obo/HP_0031796	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	biolink:PhenotypicFeature	hp			Natural history of disease	http://purl.obolibrary.org/obo/HP_0031797	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	biolink:PhenotypicFeature	hp			Elevated ApoB level|Elevated apolipoprotein B level	http://purl.obolibrary.org/obo/HP_0031798	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 AI concentration	biolink:PhenotypicFeature	hp			Decreased apo-AI level|Decreased apoA-I level|Decreased apolipoprotein AI level	http://purl.obolibrary.org/obo/HP_0031799	Reduced criculating level of apolipoprotein AI, which 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	biolink:PhenotypicFeature	hp			Elevated APOAII level|Elevated Apo-AII level|Elevated apoA-II level|Elevated apolipoprotein A-II level	http://purl.obolibrary.org/obo/HP_0031800	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031801	Any functional anomaly of the vocal cord.
HP:0031803	Fundus hemorrhage	biolink:PhenotypicFeature	hp			Fundus haemorrhage	http://purl.obolibrary.org/obo/HP_0031803	Bleeding within the fundus of the eye.
HP:0031804	Premacular hemorrhage	biolink:PhenotypicFeature	hp			Premacular haemorrhage	http://purl.obolibrary.org/obo/HP_0031804	
HP:0031805	Intraretinal hemorrhage	biolink:PhenotypicFeature	hp			Intraretinal haemorrhage	http://purl.obolibrary.org/obo/HP_0031805	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031806	Any deviation from the normal number of basophils per volume in the blood circulation.
HP:0031807	Increased basophil count	biolink:PhenotypicFeature	hp			Basophilia	http://purl.obolibrary.org/obo/HP_0031807	An abnormally increased count of basophils per volume in the blood circulation.
HP:0031808	Decreased basophil count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031808	An abnormally reduced count of basophils per volume in the blood circulation.
HP:0031809	Archibald's sign	biolink:PhenotypicFeature	hp			Knuckle dimple|Archibald's metacarpal sign	http://purl.obolibrary.org/obo/HP_0031809	Shortening of the fourth and fifth metacarpals when the fist is clenched.
HP:0031810	Anti-ganglioside antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031810	The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.
HP:0031811	Bilirubinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031811	Presence of conjugated bilirubin in the urine.
HP:0031812	Nitrituria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031812	Presence of nitrites in the urine.
HP:0031813	Colonic eosinophilia	biolink:PhenotypicFeature	hp			Eosinophilic colitis|Eosinophilic infiltration in the colon	http://purl.obolibrary.org/obo/HP_0031813	An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.
HP:0031814	Palilalia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031814	Repetition of one's own words or phrases.
HP:0031815	Abnormal oral physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031815	A functional anomaly of the mouth (which is also known as the oral cavity).
HP:0031816	Abnormal oral morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031816	Any structural anomaly of the mouth, which is also known as the oral cavity.
HP:0031817	Decreased circulating parathyroid hormone level	biolink:PhenotypicFeature	hp			Decreased circulating PTH level|Decreased serum PTH|Decreased serum parathyroid hormone|Decreased serum parathyroid hormone level	http://purl.obolibrary.org/obo/HP_0031817	An abnormally decreased concentration of parathyroid hormone.
HP:0031818	Abnormal waist to hip ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031818	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	biolink:PhenotypicFeature	hp			Increased WHR|Increased waist-hip ratio|Increased waist-to-hip ratio	http://purl.obolibrary.org/obo/HP_0031819	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	biolink:PhenotypicFeature	hp			Decreased WHR|Decreased waist-hip ratio|Decreased waist-to-hip ratio	http://purl.obolibrary.org/obo/HP_0031820	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	biolink:PhenotypicFeature	hp			Abnormal 6-hydroxypurine phosphoribosyltransferase level|Abnormal GMP pyrophosphorylase level|Abnormal GPRT level	http://purl.obolibrary.org/obo/HP_0031821	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	biolink:PhenotypicFeature	hp			Elevated 6-hydroxypurine phosphoribosyltransferase level|Elevated 6-mercaptopurine phosphoribosyltransferase level|Elevated GMP pyrophosphorylase level	http://purl.obolibrary.org/obo/HP_0031822	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	biolink:PhenotypicFeature	hp			Reduced 6-hydroxypurine phosphoribosyltransferase level|Reduced 6-mercaptopurine phosphoribosyltransferase level|Reduced GMP pyrophosphorylase level	http://purl.obolibrary.org/obo/HP_0031823	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031824	Liver mast cell infiltration.
HP:0031825	Freezing of gait	biolink:PhenotypicFeature	hp			Freezing gait	http://purl.obolibrary.org/obo/HP_0031825	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031826	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	biolink:PhenotypicFeature	hp			Abdominal reflex absent	http://purl.obolibrary.org/obo/HP_0031827	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031828	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	biolink:PhenotypicFeature	hp			Absent cremasteric reflex	http://purl.obolibrary.org/obo/HP_0031829	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031830	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031831	A reduced concentration of zinc in the blood.
HP:0031832	Hypermetric downward saccades	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031832	Overshoot of downward saccadic eye movements.
HP:0031833	Hypometric upward saccades	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031833	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031834	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	biolink:PhenotypicFeature	hp			Abnormal superoxide:superoxide oxidoreductase activity	http://purl.obolibrary.org/obo/HP_0031835	An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
HP:0031836	Increased superoxide dismutase level	biolink:PhenotypicFeature	hp			Increased superoxide:superoxide oxidoreductase activity	http://purl.obolibrary.org/obo/HP_0031836	Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
HP:0031837	Decreased superoxide dismutase level	biolink:PhenotypicFeature	hp			Decreased superoxide:superoxide oxidoreductase activity	http://purl.obolibrary.org/obo/HP_0031837	Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
HP:0031838	Presence of xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031838	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031840	The presence of a xenobiotic in urine.
HP:0031841	Positive urine methadone test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031841	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.
HP:0031842	Lymphangiectasis	biolink:PhenotypicFeature	hp			Lymphangiectasia	http://purl.obolibrary.org/obo/HP_0031842	Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.
HP:0031843	Bradyphrenia	biolink:PhenotypicFeature	hp			Slowness of thought	http://purl.obolibrary.org/obo/HP_0031843	Abnormal slowness of thought processes.
HP:0031844	Euphoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031844	A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.
HP:0031845	Abnormal libido	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031845	Any deviation from the normal sexual drive or desire for sexual activity.
HP:0031846	Femur fracture	biolink:PhenotypicFeature	hp	MSH:D005264		Femoral fracture	http://purl.obolibrary.org/obo/HP_0031846	A break or crush injury of the thigh bone (femur).
HP:0031847	Difficulty walking backward	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031847	Reduced ability to walk (ambulate) in a backwards direction.
HP:0031848	Cock-walk gait	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031848	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031849	A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.
HP:0031850	Abnormal hematocrit	biolink:PhenotypicFeature	hp			Abnormal Hct	http://purl.obolibrary.org/obo/HP_0031850	Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.
HP:0031851	Reduced hematocrit	biolink:PhenotypicFeature	hp			Reduced Hct|Low hematocrit	http://purl.obolibrary.org/obo/HP_0031851	A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.
HP:0031853	Isomerism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031853	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	biolink:PhenotypicFeature	hp			Left-sided isomerism	http://purl.obolibrary.org/obo/HP_0031854	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	biolink:PhenotypicFeature	hp			Right-sided isomerism	http://purl.obolibrary.org/obo/HP_0031855	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031856	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031857	Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.
HP:0031858	Esophageal furrows	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031858	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031860	Any abnormality in the variability of the time interval between successive heartbeats.
HP:0031861	Decreased heart rate variability	biolink:PhenotypicFeature	hp			Reduced heart rate variability	http://purl.obolibrary.org/obo/HP_0031861	Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
HP:0031862	Increased heart rate variability	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031862	Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
HP:0031863	Bloodstream infectious agent	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031863	The presence of an infectious agent in the blood circulation.
HP:0031864	Bacteremia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031864	Presence of viable bacteria in the blood.
HP:0031865	Abnormal liver physiology	biolink:PhenotypicFeature	hp			Abnormal hepatic physiology	http://purl.obolibrary.org/obo/HP_0031865	Any functional anomaly of the liver.
HP:0031866	Clasp-knife sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031866	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031867	Increased passive stiffness or tightness of the neck musculature.
HP:0031868	Optic ataxia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031868	Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.
HP:0031869	Recurrent joint dislocation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031869	Dislocation of a given joint repeated times.
HP:0031870	Phosphohydroxylysinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031870	An elevated concentration of phosphohydroxylysine in the urine.
HP:0031871	Abnormal Langerhans cell morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031871	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031872	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	biolink:PhenotypicFeature	hp			Early sleep onset	http://purl.obolibrary.org/obo/HP_0031873	A tendency towards rising very early in the morning and going to bed early in the evening.
HP:0031874	Late chronotype	biolink:PhenotypicFeature	hp			Late sleep onset	http://purl.obolibrary.org/obo/HP_0031874	A tendency towards rising very late in the morning and going to bed late at night.
HP:0031875	Abnormal hepcidin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031875	Any deviation from the normal concentration of hepcidin in the blood circulation.
HP:0031876	Decreased hepcidin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031876	An abnormally reduced concentration of hepcidin in the blood circulation.
HP:0031877	Elevated hepcidin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031877	An abnormally increased concentration of hepcidin in the blood circulation.
HP:0031878	Acromicria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031878	Small hands and feet in proportion to the rest of the body.
HP:0031879	Abnormal eyelid physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031879	Any functional abnormality of the eyelid.
HP:0031880	Eyelid laxity	biolink:PhenotypicFeature	hp			Lid laxity	http://purl.obolibrary.org/obo/HP_0031880	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031881	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	biolink:PhenotypicFeature	hp			Agyria diffuse	http://purl.obolibrary.org/obo/HP_0031882	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031883	An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.
HP:0031884	Abnormal CSF glucose level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031884	A deviation from normal concentration of glucose content in the cerebrospinal fluid.
HP:0031885	Hyperglycorrhachia	biolink:PhenotypicFeature	hp			Increased CSF glucose	http://purl.obolibrary.org/obo/HP_0031885	Abnormally high glucose concentration in the cerebrospinal fluid.
HP:0031886	Abnormal LDL cholesterol concentration	biolink:PhenotypicFeature	hp			Abnormal LDL-C concentration|Abnormal LDL-C level|Abnormal LDLc concentration	http://purl.obolibrary.org/obo/HP_0031886	Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.
HP:0031887	Abnormal chylomicron concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031887	Any deviation from the normal circulating concentration of chylomicrons.
HP:0031888	Abnormal HDL cholesterol concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031888	Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.
HP:0031889	Abnormal VLDL cholesterol concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031889	Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.
HP:0031890	Increased urine urobilinogen	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031890	An elevated concentration of urobilinogen in the urine.
HP:0031891	Decreased eosinophil count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031891	Abnormal reduction in the count of eosinophils in the blood per volume.
HP:0031898	Rouleaux formation	biolink:PhenotypicFeature	hp			Increased rouleaux formation	http://purl.obolibrary.org/obo/HP_0031898	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	biolink:PhenotypicFeature	hp			Abnormal factor V activity	http://purl.obolibrary.org/obo/HP_0031899	Any deviation from the activity of coagulation factor V.
HP:0031900	obsolete Abnormal serum tryptase concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031900	
HP:0031901	Elevated total serum tryptase	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031901	An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.
HP:0031902	obsolete Decreased serum mast cell beta-tryptase concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031902	
HP:0031903	Abnormal circulating selenium concentration	biolink:PhenotypicFeature	hp			Abnormal serum selenium concentration	http://purl.obolibrary.org/obo/HP_0031903	Any deviation from the normal circulating concentration of selenium.
HP:0031904	Abnormal total hemolytic complement activity	biolink:PhenotypicFeature	hp			Abnormal CH50	http://purl.obolibrary.org/obo/HP_0031904	Any deviation from the normal total hemolytic complement activity in the circulation.
HP:0031905	Increased total hemolytic complement activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031905	An abnormally elevated total hemolytic complement activity in the circulation.
HP:0031906	Decreased total hemolytic complement activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031906	An abnormally reduced total hemolytic complement activity in the circulation.
HP:0031907	Anti-mitochondrial M2 antibody positivity	biolink:PhenotypicFeature	hp			AMA-M2 positive|Anti-pyruvate dehydrogenase antibody positivity	http://purl.obolibrary.org/obo/HP_0031907	The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.
HP:0031908	Micrographia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031908	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031909	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031910	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031911	
HP:0031912	Trigeminal anesthesia	biolink:PhenotypicFeature	hp			Trigeminal anaesthesia	http://purl.obolibrary.org/obo/HP_0031912	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031913	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031914	Varying irregularly over time in severity, amount, or amplitude.
HP:0031915	Stable	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031915	This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.
HP:0031917	Digital ulcer	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031917	An open sore on the surface of the skin of a finger or toe.
HP:0031918	Ovarian sex cord-stromal tumor	biolink:PhenotypicFeature	hp			Ovarian sex cord-stromal tumour	http://purl.obolibrary.org/obo/HP_0031918	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	biolink:PhenotypicFeature	hp			Juvenile type ovarian granulosa cell tumour|Ovarian juvenile granulosa cell tumour|Ovarian juvenile granulosa cell tumor	http://purl.obolibrary.org/obo/HP_0031919	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	biolink:PhenotypicFeature	hp			Malignant ovarian granulosa cell tumour	http://purl.obolibrary.org/obo/HP_0031920	An aggressive granulosa cell tumor that arises from the ovary.
HP:0031921	Gastrocnemius myalgia	biolink:PhenotypicFeature	hp			Calf muscle pain|Calf myalgia	http://purl.obolibrary.org/obo/HP_0031921	Pain of the gastrocnemius muscle.
HP:0031922	Renal artery duplication	biolink:PhenotypicFeature	hp			Accessory renal artery|Double renal artery	http://purl.obolibrary.org/obo/HP_0031922	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	biolink:PhenotypicFeature	hp			Haematocolpos	http://purl.obolibrary.org/obo/HP_0031923	Accumulation of blood in the vagina usually due to vaginal obstruction.
HP:0031924	Rope sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031924	The presence of linear erythematous palpable cords, often on the lateral trunk.
HP:0031925	Rosette	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031925	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031926	A type of rosette in which the central lumen or hub is filled with fiber-like processes.
HP:0031927	Flexner-Wintersteiner rosette	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031927	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031928	A type of rosette in which a halo of cells surrounds an empty lumen.
HP:0031929	Perivascular pseudorosette	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031929	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	biolink:PhenotypicFeature	hp			Pineocytomatous rosette	http://purl.obolibrary.org/obo/HP_0031930	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031931	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	biolink:PhenotypicFeature	hp			Left ventricle to aorta tunnel	http://purl.obolibrary.org/obo/HP_0031932	Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.
HP:0031933	Aorto-right ventricular tunnel	biolink:PhenotypicFeature	hp			Right ventricle to aorta tunnel	http://purl.obolibrary.org/obo/HP_0031933	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031934	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031935	Significant luminal narrowing of a long segment of or the entire ascending aorta.
HP:0031936	Delayed ability to walk	biolink:PhenotypicFeature	hp			Delayed walking	http://purl.obolibrary.org/obo/HP_0031936	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	biolink:PhenotypicFeature	hp			Tachylogia	http://purl.obolibrary.org/obo/HP_0031937	Extreme rapidity of speech.
HP:0031938	Abnormal conus terminalis morphology	biolink:PhenotypicFeature	hp			Abnormal conus medullaris morphology	http://purl.obolibrary.org/obo/HP_0031938	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031939	
HP:0031941	Abnormal portal venous system morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031941	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	biolink:PhenotypicFeature	hp			CAPV|Missing portal vein	http://purl.obolibrary.org/obo/HP_0031942	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031943	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031944	An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.
HP:0031945	Elevated N,N-dimethylglycine level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031945	An increased concentration of N,N-dimethylglycine in the circulation.
HP:0031946	Elevated urinary N,N-dimethylglycine level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031946	An increased concentration of N,N-dimethylglycine in the urine.
HP:0031947	Tongue tremor	biolink:PhenotypicFeature	hp			Jerky movements of the tongue	http://purl.obolibrary.org/obo/HP_0031947	An unintentional, oscillating to-and-fro muscle movement affecting the tongue.
HP:0031948	Snowball lesion of corpus callosum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031948	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	biolink:PhenotypicFeature	hp			Recurrent bacterial URI	http://purl.obolibrary.org/obo/HP_0031949	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031950	Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.
HP:0031951	Nocturnal seizures	biolink:PhenotypicFeature	hp			Sleep seizures	http://purl.obolibrary.org/obo/HP_0031951	Seizures that occur while the affected individual is sleeping.
HP:0031952	Neurogenic claudication	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031952	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	biolink:PhenotypicFeature	hp			Senile gait	http://purl.obolibrary.org/obo/HP_0031953	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031954	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	biolink:PhenotypicFeature	hp			Limp	http://purl.obolibrary.org/obo/HP_0031955	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 serum aspartate aminotransferase	biolink:PhenotypicFeature	hp			Elevated serum AST|Aspartate aminotransferase increased|Elevated serum glutamic oxaloacetic transaminase	http://purl.obolibrary.org/obo/HP_0031956	An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
HP:0031957	Spastic hemiparetic gait	biolink:PhenotypicFeature	hp			Wernicke-Mann gait	http://purl.obolibrary.org/obo/HP_0031957	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031958	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031959	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.
HP:0031960	Arm dystonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031960	A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
HP:0031961	Abnormal serum anion gap	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031961	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031962	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031963	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 serum alanine aminotransferase	biolink:PhenotypicFeature	hp			Elevated serum ALT|Alanine aminotransferase increased|Elevated serum glutamic-pyruvic transaminase	http://purl.obolibrary.org/obo/HP_0031964	An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.
HP:0031965	Increased RBC distribution width	biolink:PhenotypicFeature	hp			Increased red blood cell distribution width	http://purl.obolibrary.org/obo/HP_0031965	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	biolink:PhenotypicFeature	hp			Turbid urine	http://purl.obolibrary.org/obo/HP_0031967	The appearance of the urine having visible material in suspension, i.e., appearing cloudy.
HP:0031969	Reduced blood urea nitrogen	biolink:PhenotypicFeature	hp			Reduced BUN	http://purl.obolibrary.org/obo/HP_0031969	An abnormally low concentration of urea nitrogen in the blood.
HP:0031970	Abnormal blood urea nitrogen concentration	biolink:PhenotypicFeature	hp			Abnormal BUN concentration	http://purl.obolibrary.org/obo/HP_0031970	Any deviation from the normal concentration of urea nitrogen in the blood.
HP:0031971	Subaortic ventricular septal bulge	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031971	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031972	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031973	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031974	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031975	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031976	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031977	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031978	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031979	Any deviation from the normal concentration of a carbohydrate in the urine.
HP:0031980	Abnormal urine carboxylic acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031980	Any deviation from the normal concentration of a carboxylic acid in the urine.
HP:0031981	Elevated urine glycolate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031981	An increased concentration of glycolate in the urine.
HP:0031982	Abnormal putamen morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031982	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	biolink:PhenotypicFeature	hp			Abnormal chest radiograph finding (lung)	http://purl.obolibrary.org/obo/HP_0031983	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031984	A piece of food that has gotten stuck in the esophagus and prevents further swallowing.
HP:0031985	Esophageal exudate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031985	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031986	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	biolink:PhenotypicFeature	hp			Poor concentration|Lack of concentration	http://purl.obolibrary.org/obo/HP_0031987	Being unable to focus one's attention or mental effort on a particular object or activity.
HP:0031988	obsolete Muscle spasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031988	
HP:0031989	Perioral spasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031989	A sudden involuntary contraction of the musculature surrounding the mouth.
HP:0031990	Chvostek sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031990	A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.
HP:0031991	Increased urinary excretion of galactosyl hydroxylysine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031991	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031992	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031993	A Hoffman 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031994	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031995	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031996	Crackles that are heard during the inspiratory phase.
HP:0031997	Early inspiratory crackles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031997	Crackles that appear at the beginning of inspiration and end before mid-inspiration.
HP:0031998	Late inspiratory crackles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031998	Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.
HP:0031999	Expiratory crackles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0031999	Crackles that occur during expiration.
HP:0032000	Pleural rub	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032000	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032001	An abnormal pink color of urine.
HP:0032002	Orange urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032002	An abnormal orange color of urine.
HP:0032003	Green urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032003	An abnormal green color of urine.
HP:0032004	Pruritus vulvae	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032004	A sensation of itching in the vulvar region.
HP:0032005	Hemidystonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032005	Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.
HP:0032006	Lip tremor	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032006	An unintentional, oscillating to-and-fro muscle movement affecting the lip.
HP:0032007	Maceration	biolink:PhenotypicFeature	hp			Maceration of the skin|Skin maceration	http://purl.obolibrary.org/obo/HP_0032007	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	biolink:PhenotypicFeature	hp			Fat embolism	http://purl.obolibrary.org/obo/HP_0032008	The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.
HP:0032009	Infantile constant exotropia	biolink:PhenotypicFeature	hp			Infantile (constant) exotropia	http://purl.obolibrary.org/obo/HP_0032009	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	biolink:PhenotypicFeature	hp			Basic (constant) exotropia	http://purl.obolibrary.org/obo/HP_0032010	Constant exotropia for near and distance, presenting after 6 months of age.
HP:0032011	Heterophoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032011	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032012	Manifest deviation of the visual axes not controlled by fusion.
HP:0032013	Hypermetric horizontal saccades	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032013	Overshoot of horizontal (sideways) saccadic eye movements.
HP:0032014	Dysmetric vertical saccades	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032014	Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.
HP:0032015	Dysmetric horizontal saccades	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032015	Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.
HP:0032016	Abnormal sputum	biolink:PhenotypicFeature	hp			Abnormal sputum morphology	http://purl.obolibrary.org/obo/HP_0032016	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032017	An increased proportion of eosinophils in sputum in the differentiated cell count.
HP:0032018	Multiple mononeuropathy	biolink:PhenotypicFeature	hp			Mononeuritis multiplex	http://purl.obolibrary.org/obo/HP_0032018	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	biolink:PhenotypicFeature	hp			Eosinophilic infiltration of skeletal muscle	http://purl.obolibrary.org/obo/HP_0032019	Eosinophil infiltration of skeletal muscle.
HP:0032020	Eosinophilic bladder infiltration	biolink:PhenotypicFeature	hp			Eosinophilic cystitis	http://purl.obolibrary.org/obo/HP_0032020	Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.
HP:0032021	Eosinophilic liver infiltration	biolink:PhenotypicFeature	hp			Eosinophilic hepatitis	http://purl.obolibrary.org/obo/HP_0032021	Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.
HP:0032022	Eosinophilic dermal infiltration	biolink:PhenotypicFeature	hp			Eosinophilic dermatitis	http://purl.obolibrary.org/obo/HP_0032022	Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.
HP:0032023	Eosinophilic gallbladder infiltration	biolink:PhenotypicFeature	hp			Eosinophilic cholecystitis	http://purl.obolibrary.org/obo/HP_0032023	Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.
HP:0032024	Ileal ulcer	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032024	An erosion of the mucous membrane in a portion of the ileum.
HP:0032025	Reduced serum alpha-1-antitrypsin	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032025	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032026	Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.
HP:0032027	Retinal dots	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032027	Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.
HP:0032028	Macular dots	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032028	Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.
HP:0032029	Floppy eyelid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032029	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032030	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032031	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032032	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032033	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032034	Abnormally lax upper eyelid associated with tissue relaxation.
HP:0032035	Lower eyelid laxity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032035	Abnormally lax lower eyelid associated with tissue relaxation.
HP:0032036	Abnormal contrast sensitivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032036	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	biolink:PhenotypicFeature	hp			Mild reduction in visual acuity|Mild vision loss|Mild visual loss	http://purl.obolibrary.org/obo/HP_0032037	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032039	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032040	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032041	A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.
HP:0032043	Odynophagia	biolink:PhenotypicFeature	hp			Painful swallowing	http://purl.obolibrary.org/obo/HP_0032043	Pain experienced with swallowing.
HP:0032044	Decreased vigilance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032044	A reduction in the ability to maintain sustained attention characterized by reduced alertness.
HP:0032045	Hypoplastic carotid canal	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032045	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032046	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032047	A type of focal cortical dysplasia that is characterized by abnormal cortical layering.
HP:0032048	Focal cortical dysplasia type Ia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032048	A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.
HP:0032049	Focal cortical dysplasia type Ib	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032049	A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.
HP:0032050	Focal cortical dysplasia type Ic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032050	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032051	A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.
HP:0032052	Focal cortical dysplasia type IIa	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032052	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032053	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032054	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032055	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 (HS, syn. Ammon's horn sclerosis).
HP:0032056	Focal cortical dysplasia type IIIb	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032056	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032057	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032058	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032059	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	biolink:PhenotypicFeature	hp			Angiolymphoid hyperplasia with eosinophilia	http://purl.obolibrary.org/obo/HP_0032060	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032061	A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter).
HP:0032062	Mallory-Weiss tear	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032062	Vomiting-induced mucosal laceration at the esophago-gastric junction.
HP:0032063	Ankle joint effusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032063	Abnormal accumulation of fluid in or around the ankle joint.
HP:0032064	Gastrointestinal eosinophilia	biolink:PhenotypicFeature	hp			GI eosinophilia|Eosinophilic enteritis|Eosinophilic gastroenteritis|Eosinophilic gastrointestinal disease|Eosinophilic gastrointestinal disorders	http://purl.obolibrary.org/obo/HP_0032064	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	biolink:PhenotypicFeature	hp			Abnormal serum HCO3 concentration	http://purl.obolibrary.org/obo/HP_0032065	Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.
HP:0032066	Decreased serum bicarbonate concentration	biolink:PhenotypicFeature	hp			Decreased serum HCO3 concentration	http://purl.obolibrary.org/obo/HP_0032066	An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.
HP:0032067	Elevated serum bicarbonate concentration	biolink:PhenotypicFeature	hp			Elevated serum HCO3 concentration	http://purl.obolibrary.org/obo/HP_0032067	An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.
HP:0032068	Increased urinary mucus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032068	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032069	The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
HP:0032070	Leptomeningeal enhancement	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032070	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	biolink:PhenotypicFeature	hp			Eosinophilic pulmonary infiltration|Pulmonary eosinophilic infiltrate|Pulmonary eosinophilic infiltration|Pulmonary eosinophilia	http://purl.obolibrary.org/obo/HP_0032071	The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.
HP:0032072	Popliteal synovial cyst	biolink:PhenotypicFeature	hp			Baker's cyst	http://purl.obolibrary.org/obo/HP_0032072	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032073	Aplasia, that is failure to develop, of the fallopian tube.
HP:0032075	Splenopancreatic fusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032075	Fusion of the pancreatic tail and spleen.
HP:0032076	Abnormal male urethral meatus morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032076	
HP:0032077	Male urethral meatus stenosis	biolink:PhenotypicFeature	hp			Meatal stenosis|Meatus stenosis	http://purl.obolibrary.org/obo/HP_0032077	An abnormal narrowing of the urethral opening (meatus) of the penis.
HP:0032078	Angel-shaped phalanx	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032078	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032079	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032081	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032082	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	biolink:PhenotypicFeature	hp			Aortic elastic fibre fragmentation	http://purl.obolibrary.org/obo/HP_0032083	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	biolink:PhenotypicFeature	hp			Aortic elastic fibre thinning	http://purl.obolibrary.org/obo/HP_0032084	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	biolink:PhenotypicFeature	hp			Aortic elastic fibre disorganisation	http://purl.obolibrary.org/obo/HP_0032085	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032086	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032087	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	biolink:PhenotypicFeature	hp			Aortic smooth muscle cell disorganisation	http://purl.obolibrary.org/obo/HP_0032088	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032089	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032090	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032091	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032092	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	biolink:PhenotypicFeature	hp			Increased serum surfactant protein level	http://purl.obolibrary.org/obo/HP_0032094	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032096	A deviation from the normal range of manganese in the blood circulation.
HP:0032097	Hypermanganesemia	biolink:PhenotypicFeature	hp			Increased blood manganese concentration	http://purl.obolibrary.org/obo/HP_0032097	An elevation above the normal concentration of manganese in the blood.
HP:0032098	Hypomanganesemia	biolink:PhenotypicFeature	hp			A reduction below the normal concentration of manganese in the blood.	http://purl.obolibrary.org/obo/HP_0032098	
HP:0032099	Perioral radial furrowing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032099	The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).
HP:0032100	Abnormal doll's eye reflex	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032100	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032101	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032102	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	biolink:PhenotypicFeature	hp			Saccadic oscillations	http://purl.obolibrary.org/obo/HP_0032104	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	biolink:PhenotypicFeature	hp			Macrosaccadic oscillation	http://purl.obolibrary.org/obo/HP_0032105	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	biolink:PhenotypicFeature	hp			Yellowing of the whites of the eyes|Scleral icterus|Yellow conjunctiva|Yellow sclera	http://purl.obolibrary.org/obo/HP_0032106	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032107	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	biolink:PhenotypicFeature	hp			Mild reduction in contrast sensitivity	http://purl.obolibrary.org/obo/HP_0032108	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	biolink:PhenotypicFeature	hp			Moderate reduction in contrast sensitivity	http://purl.obolibrary.org/obo/HP_0032109	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032110	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032111	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032112	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 mode of inheritance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032113	A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected.
HP:0032114	Saccadic intrusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032114	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032116	Horizontal 10-40 degree excursions from fixation and back again.
HP:0032117	obsolete Macrosaccadic oscillation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032117	
HP:0032118	Retinitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032118	Inflammation of the retina of the eye.
HP:0032119	Narrow angle glaucoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032119	A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.
HP:0032120	Abnormal peripheral nervous system physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032120	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	biolink:PhenotypicFeature	hp			Froment thumb sign	http://purl.obolibrary.org/obo/HP_0032121	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032122	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032123	Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).
HP:0032124	Abnormal proportion of unswitched memory B cells	biolink:PhenotypicFeature	hp			Abnormal proportion of non-class-switched memory B cells	http://purl.obolibrary.org/obo/HP_0032124	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	biolink:PhenotypicFeature	hp			Elevated proportion of unswitched memory B cells|Increased proportion of non-class-switched memory B cells	http://purl.obolibrary.org/obo/HP_0032125	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	biolink:PhenotypicFeature	hp			Decreased proportion of non-class-switched memory B cells|Reduced proportion of unswitched memory B cells	http://purl.obolibrary.org/obo/HP_0032126	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032127	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032128	An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.
HP:0032129	Decreased proportion of plasmablasts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032129	A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.
HP:0032130	Mycobacterium abscessus abscessus infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032130	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032131	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032132	A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0032133	Transient decreased circulating total IgG	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032133	A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0032134	Chronic decreased circulating total IgG	biolink:PhenotypicFeature	hp			Chronic decreased total IgG in blood	http://purl.obolibrary.org/obo/HP_0032134	A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
HP:0032135	Decreased circulating IgG subclass level	biolink:PhenotypicFeature	hp			Decreased IgG subclass level in blood	http://purl.obolibrary.org/obo/HP_0032135	A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.
HP:0032136	Decreased circulating IgG1 level	biolink:PhenotypicFeature	hp			Decreased IgG1 level in blood	http://purl.obolibrary.org/obo/HP_0032136	A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.
HP:0032137	Decreased circulating IgG3 level	biolink:PhenotypicFeature	hp			Decreased IgG3 level in blood	http://purl.obolibrary.org/obo/HP_0032137	A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.
HP:0032138	Decreased circulating IgG4 level	biolink:PhenotypicFeature	hp			Decreased IgG4 level in blood	http://purl.obolibrary.org/obo/HP_0032138	A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.
HP:0032139	Reduced isohemagglutinin level	biolink:PhenotypicFeature	hp			Decreased natural antibody to blood group agents|Partial absence of isohemagglutinins	http://purl.obolibrary.org/obo/HP_0032139	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032140	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032141	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	biolink:PhenotypicFeature	hp			Foetor hepaticus	http://purl.obolibrary.org/obo/HP_0032142	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032143	An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.
HP:0032144	Coffee ground vomitus	biolink:PhenotypicFeature	hp			Coffee grounds emesis|Coffee grounds vomiting	http://purl.obolibrary.org/obo/HP_0032144	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	biolink:PhenotypicFeature	hp			Atrophy of sural nerve	http://purl.obolibrary.org/obo/HP_0032145	Wasting of the sural nerve, a sensory nerve in the calf region of the leg.
HP:0032146	HbC hemoglobin	biolink:PhenotypicFeature	hp			HbC haemoglobin|Hemoglobin C	http://purl.obolibrary.org/obo/HP_0032146	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032147	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032148	Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.
HP:0032149	Breakthrough pain	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032149	A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.
HP:0032150	Paroxysmal rectal pain	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032150	Excruciating burning pain in the rectal area that may be triggered by defecation.
HP:0032151	Episodic eosinophilia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032151	Recurrent episodes of marked eosinophilia that resolve spontaneously.
HP:0032152	Keratosis pilaris	biolink:PhenotypicFeature	hp			Chicken skin|Carpet tack sign|Follicular keratosis|Follicular keratotic plug|Follicular plugging|Hyperkeratosis pilaris|Lichen pilaris	http://purl.obolibrary.org/obo/HP_0032152	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032153	A partial dislocation of a joint.
HP:0032154	Aphthous ulcer	biolink:PhenotypicFeature	hp			Canker sore	http://purl.obolibrary.org/obo/HP_0032154	Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
HP:0032155	Abdominal cramps	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032155	A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.
HP:0032156	Skin detachment	biolink:PhenotypicFeature	hp			Detached skin|Epidermal detachment|Skin sloughing	http://purl.obolibrary.org/obo/HP_0032156	Loss of sections of skin either spontaneously or after gentle handling.
HP:0032157	Recurrent genital herpes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032157	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032158	An unusual infection classified by the affected body part.
HP:0032159	Fungal meningitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032159	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032160	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032161	A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.
HP:0032162	Unusual skin infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032162	A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.
HP:0032163	Molluscum contagiosum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032163	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	biolink:PhenotypicFeature	hp			An elevated circulating concentration of folic acid, which is also known as vitamin B9.	http://purl.obolibrary.org/obo/HP_0032164	
HP:0032165	Placental mesenchymal dysplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032165	Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees.
HP:0032166	Unusual gastrointestinal infection	biolink:PhenotypicFeature	hp			Unusual GI infection	http://purl.obolibrary.org/obo/HP_0032166	
HP:0032167	Clostridium difficile enteritis	biolink:PhenotypicFeature	hp			C. difficile enteritis	http://purl.obolibrary.org/obo/HP_0032167	An infection of the small intestine (enteritis) by clostridium difficile.
HP:0032168	Clostridium difficile colitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032168	An infection of the colon (colitis) by clostridium difficile.
HP:0032169	Severe infection	biolink:PhenotypicFeature	hp			Unusual course of infection	http://purl.obolibrary.org/obo/HP_0032169	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032170	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032171	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032172	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032173	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032174	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032175	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	biolink:PhenotypicFeature	hp			Apical cap|Apical pleural thickening	http://purl.obolibrary.org/obo/HP_0032176	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032177	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	biolink:PhenotypicFeature	hp			Flaky paint skin appearance	http://purl.obolibrary.org/obo/HP_0032178	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032179	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032180	An abnormal level of an analyte measured in the blood.
HP:0032181	Anomalous hepatic venous drainage into the left atrium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032181	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	biolink:PhenotypicFeature	hp			Abnormal proportion of CD4+CD29+ cells	http://purl.obolibrary.org/obo/HP_0032182	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	biolink:PhenotypicFeature	hp			Decreased proportion of CD4+CD29+ cells	http://purl.obolibrary.org/obo/HP_0032183	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	biolink:PhenotypicFeature	hp			Increased proportion of CD4+CD29+ cells	http://purl.obolibrary.org/obo/HP_0032184	An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.
HP:0032185	Disseminated molluscum contagiosum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032185	The presense of molluscum contagiosum lesions across multiple areas of the body.
HP:0032186	Anal neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032186	A benign or malignant neoplasm that affects the anal canal or anal margin.
HP:0032187	Anal intraepithelial neoplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032187	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032188	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032189	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032190	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032191	A tear in the cartilaginous pad (meniscus) of the knee.
HP:0032192	Hydatidiform mole	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032192	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032193	An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.
HP:0032195	Abnormal S wave	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032195	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032196	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032197	Abnormal depth of the S wave in lead V5 of the electrocardiogram.
HP:0032198	Decreased prothrombin time	biolink:PhenotypicFeature	hp			Decreased INR|Decreased PT|Decreased international normalized ratio	http://purl.obolibrary.org/obo/HP_0032198	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	biolink:PhenotypicFeature	hp			Abnormal PT	http://purl.obolibrary.org/obo/HP_0032199	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032200	The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.
HP:0032201	Rotator cuff tear	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032201	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032202	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	biolink:PhenotypicFeature	hp			Lymphonodular hyperplasia of the colon	http://purl.obolibrary.org/obo/HP_0032203	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032204	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	biolink:PhenotypicFeature	hp			An increased circulation of galectin-3 in the blood circulation.	http://purl.obolibrary.org/obo/HP_0032205	Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and triggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling.
HP:0032207	Abnormal cerebrospinal fluid metabolite concentration	biolink:PhenotypicFeature	hp			Abnormal CSF metabolite concentration	http://purl.obolibrary.org/obo/HP_0032207	Any deviation from the normal concentration of a metabolite in cerebrospinal fluid.
HP:0032208	Increased urinary type 1 collagen N-terminal telopeptide level	biolink:PhenotypicFeature	hp			Increased urine NTx level|Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine	http://purl.obolibrary.org/obo/HP_0032208	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 level	biolink:PhenotypicFeature	hp			Abnormal circulating free T3 concentration|Abnormal circulating free triiodotyronine concentration	http://purl.obolibrary.org/obo/HP_0032209	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	biolink:PhenotypicFeature	hp			Decreased circulating free triiodothyronine	http://purl.obolibrary.org/obo/HP_0032210	A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
HP:0032211	Increased urinary epithelial cell count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032211	An increased number of epithelial cells per high-power field in urinanalysis.
HP:0032212	Increased urinary squamous epithelial cell count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032212	An increased number of squamous epithelial cells per high-power field in urinanalysis.
HP:0032213	Increased urinary renal tubular epithelial cell count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032213	An increased number of renal tubular epithelial cells per high-power field in urinanalysis.
HP:0032214	Increased urinary transitional epithelial cell count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032214	An increased number of transitional epithelial cells per high-power field in urinanalysis.
HP:0032215	Disseminated cutaneous warts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032215	Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.
HP:0032216	Lymphocytic infiltration of the colorectal mucosa	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032216	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032217	A skin nodule that is unusually hard (indurated).
HP:0032218	Decreased proportion of CD4-positive T cells	biolink:PhenotypicFeature	hp			Decreased proportion of CD4+ cells|Decreased proportion of CD4-positive, alpha-beta T cells|Reduced proportion of CD4-positive cells	http://purl.obolibrary.org/obo/HP_0032218	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	biolink:PhenotypicFeature	hp			Elevated proportion of CD4-positive T cells|Increased proportion of CD4+ T cells|Increased proportion of CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0032219	An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.
HP:0032220	Interface hepatitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032220	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032221	The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.
HP:0032222	Serrated intestinal polyps	biolink:PhenotypicFeature	hp			Serrated polyposis	http://purl.obolibrary.org/obo/HP_0032222	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032223	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032224	The ABO system consists of A and B antigens and antibodies against these antigens.
HP:0032225	Perifollicular fibroma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032225	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032226	Any structural anomaly of the sebaceous glands.
HP:0032227	Sebaceous hyperplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032227	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032228	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	biolink:PhenotypicFeature	hp			p-ANCA positivity	http://purl.obolibrary.org/obo/HP_0032229	The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
HP:0032230	Cytoplasmic antineutrophil antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032230	The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.
HP:0032231	Hypochromia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032231	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	biolink:PhenotypicFeature	hp			Increased circulating CK MB isoform	http://purl.obolibrary.org/obo/HP_0032232	An increased concentration of the MB isoform of creatine kinase in the blood circulation.
HP:0032233	Increased circulating creatine kinase BB isoform	biolink:PhenotypicFeature	hp			Increased circulating CK BB isoform	http://purl.obolibrary.org/obo/HP_0032233	An increased concentration of the BB isoform of creatine kinase in the blood circulation.
HP:0032234	Increased circulating creatine kinase MM isoform	biolink:PhenotypicFeature	hp			Increased circulating CK MM isoform	http://purl.obolibrary.org/obo/HP_0032234	An increased concentration of the MM isoform of creatine kinase in the blood circulation.
HP:0032235	Anti-La/SS-B antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032235	The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.
HP:0032236	Increased circulating immature neutrophil count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032236	An abnormally increased number of immature neutrophils in the peripheral blood circulation.
HP:0032237	Increased circulating myelocyte count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032237	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032238	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	biolink:PhenotypicFeature	hp			Increased circulating band form neutrophils|Left shift	http://purl.obolibrary.org/obo/HP_0032239	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032240	An increased concentration of E selectin in the blood circulation.
HP:0032241	Cervical neoplasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032241	A tumor (abnormal growth of tissue) of the uterine cervix.
HP:0032242	Cervical intraepithelial neoplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032242	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032243	Any deviation from the normal concentration of a metabolite in a tissue.
HP:0032244	Decreased serum thromboxane B2	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032244	A reduction in the concentration of thromboxane B2 in the blood circulation.
HP:0032245	Abnormal metabolism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032245	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032247	Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.
HP:0032248	Persistent viremia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032248	Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.
HP:0032249	Coccidioidomycosis	biolink:PhenotypicFeature	hp			Valley fever	http://purl.obolibrary.org/obo/HP_0032249	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032250	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032251	
HP:0032252	Granuloma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032252	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032253	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	biolink:PhenotypicFeature	hp			Elevated serum copper|Hypercupremia	http://purl.obolibrary.org/obo/HP_0032254	An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.
HP:0032255	Opportunistic fungal infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032255	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032256	Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.
HP:0032257	Disseminated histoplasmosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032257	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032258	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032259	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032260	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032261	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	biolink:PhenotypicFeature	hp			Pulmonary TB	http://purl.obolibrary.org/obo/HP_0032262	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	biolink:PhenotypicFeature	hp			Increased BP	http://purl.obolibrary.org/obo/HP_0032263	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	biolink:PhenotypicFeature	hp			Presence of anti-N-methyl-D-aspartate Receptor antibody in blood|Presence of anti-NMDAR antibody in blood	http://purl.obolibrary.org/obo/HP_0032264	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	biolink:PhenotypicFeature	hp			Cerebrospinal fluid autoimmune antibody positivity	http://purl.obolibrary.org/obo/HP_0032265	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	biolink:PhenotypicFeature	hp			Presence of NMDAR antibody in CSF|Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF|Presence of anti-NMDAR antibody in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0032266	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032267	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032268	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032269	Bifrontal flattening of the fetal head as observed by prenatal ultrasonographic examination, an appearance that is said to resemble a lemon.
HP:0032270	Optic nerve tram-track sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032270	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	biolink:PhenotypicFeature	hp			Extrapulmonary TB	http://purl.obolibrary.org/obo/HP_0032271	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032272	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	biolink:PhenotypicFeature	hp			Increased circulating N-acetyl aspartate level|Increased circulating N-acetyl aspartic acid level|Increased circulating N-acetyl-L-aspartic acid level|Increased circulating N-acetylaspartate level|Increased circulating NAA level	http://purl.obolibrary.org/obo/HP_0032273	An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.
HP:0032274	Increased CSF N-Acetylaspartic acid concentration	biolink:PhenotypicFeature	hp			Increased N-acetyl aspartate levels in CSF|Increased N-acetyl aspartic acid levels in CSF|Increased N-acetyl-L-aspartic acid levels in CSF|Increased N-acetylaspartate levels in CSF|Increased NAA levels in CSF	http://purl.obolibrary.org/obo/HP_0032274	An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).
HP:0032275	Recurrent shingles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032275	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032276	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032277	
HP:0032278	2-hydroxyglutarate aciduria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032278	An increase in the level of 2-hydroxyglutaric acid in the urine.
HP:0032281	Abnormal base excess	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032281	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032282	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032283	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032284	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032285	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032286	Ultra-low vision but with retained ability to perceive the difference between light and dark.
HP:0032287	Ultra-low vision with no light perception	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032287	Ultra-low vision with complete lack of light and form perception.
HP:0032288	Polyclonal elevation of circulating IgG	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032288	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032289	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032290	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032291	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032292	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032293	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032294	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032295	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032296	An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.
HP:0032297	Increased circulating IgG3 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032297	An abnormally increased concentration of the IgG3 subtype in the blood circulation.
HP:0032298	Increased circulating IgG1 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032298	An abnormally increased concentration of the IgG1 subtype in the blood circulation.
HP:0032299	Increased circulating IgG2 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032299	An abnormally increased concentration of the IgG2 subtype in the blood circulation.
HP:0032300	Increased circulating IgG4 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032300	An abnormally increased concentration of the IgG4 subtype in the blood circulation.
HP:0032301	Genital warts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032301	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032302	The presence of free monoclonal kappa immunoglobulin light chains in the urine.
HP:0032303	Lambda Bence Jones proteinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032303	The presence of free monoclonal lambda immunoglobulin light chains in the urine.
HP:0032304	Abnormal mannose-binding protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032304	Any deviation from the normal concentration of mannose-binding protein in the blood circulation.
HP:0032305	Decreased mannose-binding protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032305	An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.
HP:0032306	Increased mannose-binding protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032306	An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.
HP:0032308	Increased circulating procalcitonin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032308	An elevated concentration of procalcitonin in the blood circulation.
HP:0032309	Abnormal granulocyte count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032309	Any deviation from the normal cell count per volume of granulocytes in the blood circulation.
HP:0032310	Granulocytosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032310	An increased count of granulocytes in the peripheral blood circulation.
HP:0032311	Increased circulating globulin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032311	An abnormally elevated concentration of globulins in the blood.
HP:0032312	Decreased circulating globulin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032312	An abnormally reduced concentration of globulins in the blood.
HP:0032313	Frontotemporal hypertrichosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032313	Excessive, increased hair growth located in the region of the forehead and temple.
HP:0032314	Abnormal areolar morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032314	An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.
HP:0032315	Areolar fullness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032315	The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.
HP:0032316	Family history	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032316	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032317	A close blood relative had cancer.
HP:0032318	Family history of heart disease	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032318	A close blood relative had heart disease.
HP:0032319	Health status	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032319	Health status of a family member with respect to the disease being investigated in a proband.
HP:0032320	Affected	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032320	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032321	This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.
HP:0032322	Healthy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032322	No history of any serious disease, including the disease being investigated in the proband.
HP:0032323	Periodic fever	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032323	Episodic fever that recurs at regular intervals.
HP:0032324	Non-periodic recurrent fever	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032324	Episodic fever that recurs at irregular intervals.
HP:0032325	Lacunar stroke	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032325	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	biolink:PhenotypicFeature	hp			MRSA infection	http://purl.obolibrary.org/obo/HP_0032326	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032327	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032328	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032329	An abnormally elevated concentration of 11-deoxycortisol in the urine.
HP:0032330	Increased urinary 11-deoxycorticosterone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032330	An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.
HP:0032331	Increased urinary 11-deoxytetrahydrocorticosterone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032331	An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.
HP:0032332	Oligoclonal elevation of circulating IgM	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032332	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032333	A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.
HP:0032334	Oligoclonal elevation of circulating IgA	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032334	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032335	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032336	
HP:0032337	Monoclonal elevation of circulating IgE	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032337	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032338	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032339	A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.
HP:0032340	obsolete Abnormal spirometry test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032340	
HP:0032341	Reduced forced vital capacity	biolink:PhenotypicFeature	hp			Reduced FVC|Decreased forced vital capacity	http://purl.obolibrary.org/obo/HP_0032341	An abnormal reduction in the amount of air a person can expel following maximal insipiration.
HP:0032342	Reduced forced expiratory volume in one second	biolink:PhenotypicFeature	hp			An abnormal reduction in the amount of air a person can forcefully expel in one second.	http://purl.obolibrary.org/obo/HP_0032342	
HP:0032344	Upslanting toenail	biolink:PhenotypicFeature	hp			Ski-jump toenail|Upturned toenail	http://purl.obolibrary.org/obo/HP_0032344	Upturned concavity of toenails.
HP:0032345	Elevated cancer Ag 19-9 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032345	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032346	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	biolink:PhenotypicFeature	hp			Macular amyloidosis	http://purl.obolibrary.org/obo/HP_0032347	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032348	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032349	A increased concentration of serine in the urine.
HP:0032350	Sulfocysteinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032350	A increased concentration of sulfocysteine in the urine.
HP:0032351	Phenylalaninuria	biolink:PhenotypicFeature	hp			Increased level of phenylalanine in urine	http://purl.obolibrary.org/obo/HP_0032351	Increased level of phenylalanine in urine.
HP:0032352	Methioninuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032352	Increased level of methionine in urine.
HP:0032353	Leucinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032353	Increased level of leucine in urine.
HP:0032355	Decreased peak expiratory flow	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032355	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	biolink:PhenotypicFeature	hp			Decreased pre bronchodilator forced vital capacity|Decreased prebronchodilator forced vital capacity	http://purl.obolibrary.org/obo/HP_0032356	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	biolink:PhenotypicFeature	hp			Decreased post bronchodilator forced vital capacity|Decreased postbronchodilator forced vital capacity	http://purl.obolibrary.org/obo/HP_0032357	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	biolink:PhenotypicFeature	hp			Decreased post bronchodilator forced expiratory volume in one second|Decreased postbronchodilator forced expiratory volume in one second	http://purl.obolibrary.org/obo/HP_0032358	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%	biolink:PhenotypicFeature	hp			Decreased FEF25-75%	http://purl.obolibrary.org/obo/HP_0032359	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%	biolink:PhenotypicFeature	hp			Decreased pre-bronchodilator FEF25-75%|Decreased pre bronchodilator forced expiratory flow 25-75%|Decreased prebronchodilator forced expiratory flow 25-75%	http://purl.obolibrary.org/obo/HP_0032360	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%	biolink:PhenotypicFeature	hp			Decreased post-bronchodilator FEF25-75%|Decreased post bronchodilator forced expiratory flow 25-75%|Decreased postbronchodilator forced expiratory flow 25-75%	http://purl.obolibrary.org/obo/HP_0032361	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032362	An abnormally elevated concentration of corticosterone in the blood.
HP:0032363	Decreased circulating corticosterone level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032363	An abnormally reduced concentration of corticosterone in the blood.
HP:0032364	obsolete Abnormal CSF amino acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032364	
HP:0032365	Exacerbated by aspirin ingestion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032365	Applied to a sign or symptom that is worsened by ingestion of aspirin.
HP:0032366	Positive direct antiglobulin test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032366	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	biolink:PhenotypicFeature	hp			Abnormal somatotropin level	http://purl.obolibrary.org/obo/HP_0032367	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032368	An abnormally low blood pH (usually defined as less than 7.35).
HP:0032369	Alkalemia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032369	An abnormally high blood pH (usually defined as 7.41 or above).
HP:0032370	Blood group A	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032370	ABO phenotype A, corresponding to the genotype AO or AA.
HP:0032371	Isoleucinuria	biolink:PhenotypicFeature	hp			Hyperisoleucinuria	http://purl.obolibrary.org/obo/HP_0032371	An increased concentration of isoleucine in the urine.
HP:0032372	Increased peripheral blast count	biolink:PhenotypicFeature	hp			Elevated blast count|Elevated circulating blasts|Increased peripheral myeloblast count	http://purl.obolibrary.org/obo/HP_0032372	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032373	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032374	Presence of the Duffy Fya antigen.
HP:0032375	Duffy Fyb positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032375	Presence of the Duffy Fyb antigen.
HP:0032376	Anti-beta 2 glycoprotein I antibody positivity	biolink:PhenotypicFeature	hp			Anti-B2GPI positivity	http://purl.obolibrary.org/obo/HP_0032376	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	biolink:PhenotypicFeature	hp			Increased urinary alpha-1-acid glycoprotein	http://purl.obolibrary.org/obo/HP_0032377	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032378	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	biolink:PhenotypicFeature	hp			Sun allergy	http://purl.obolibrary.org/obo/HP_0032379	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	biolink:PhenotypicFeature	hp			Acute vesiculation and crusting and scarring following sun exposure	http://purl.obolibrary.org/obo/HP_0032381	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032382	Inheritance of both homologues of a chromosome pair from the same parent.
HP:0032383	Uniparental heterodisomy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032383	A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.
HP:0032384	Uniparental isodisomy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032384	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	biolink:PhenotypicFeature	hp			Abnormal circulating transferrin level	http://purl.obolibrary.org/obo/HP_0032385	Any deviation from the normal concentration of transferrin in the blood circulation.
HP:0032386	Elevated circulating transferrin concentration	biolink:PhenotypicFeature	hp			Elevated transferrin level	http://purl.obolibrary.org/obo/HP_0032386	An abnormally increased concentration of transferrin in the blood circulation.
HP:0032387	Reduced circulating transferrin concentration	biolink:PhenotypicFeature	hp			Reduced transferrin level	http://purl.obolibrary.org/obo/HP_0032387	An abnormally decreased concentration of transferrin in the blood circulation.
HP:0032388	Periventricular nodular heterotopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032388	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032389	A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.
HP:0032390	Periventricular ribbonlike heterotopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032390	Heterotopia that forms a continuous wavy line along the ventricular wall.
HP:0032391	Subcortical heterotopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032391	A form of heterotopia were the mislocalized gray matter is located deep within the white matter.
HP:0032392	Nodular subcortical heterotopia in peritrigonal regions	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032392	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032393	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032394	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	biolink:PhenotypicFeature	hp			Giant heterotopia	http://purl.obolibrary.org/obo/HP_0032395	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032396	Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.
HP:0032397	Citrullinuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032397	An increased concentration of citrulline in the urine.
HP:0032398	Dysgyria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032398	An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.
HP:0032399	Dysgyria with normal cortical thickness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032399	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032400	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032401	A increased concentration of aspartic acid in the urine.
HP:0032403	Asparaginuria	biolink:PhenotypicFeature	hp			Increased level of asparagine in urine|Increased urine asparagine level	http://purl.obolibrary.org/obo/HP_0032403	An increased concentration of asparagine in the urine.
HP:0032404	Testicular mass	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032404	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	biolink:PhenotypicFeature	hp			Increased level of phosphoserine in urine	http://purl.obolibrary.org/obo/HP_0032405	An increased level of phosphoserine in the urine.
HP:0032406	Unilateral perisylvian polymicrogyria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032406	A type of perisylvian polymicrogyria that largely affects one side of the brain.
HP:0032407	Bilateral perisylvian polymicrogyria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032407	A type of perisylvian polymicrogyria that affects both sides of the brain.
HP:0032408	Breast mass	biolink:PhenotypicFeature	hp			Breast lump	http://purl.obolibrary.org/obo/HP_0032408	A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.
HP:0032409	Subcortical band heterotopia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032409	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	biolink:PhenotypicFeature	hp			Bilateral generalised polymicrogyria|Diffuse polymicrogyria	http://purl.obolibrary.org/obo/HP_0032410	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	biolink:PhenotypicFeature	hp			Occipital subcortical band heterotopia|Subcortical band heterotopia posterior predominant	http://purl.obolibrary.org/obo/HP_0032411	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	biolink:PhenotypicFeature	hp			Frontal subcortical band heterotopia|Subcortical band heterotopia anterior predominant	http://purl.obolibrary.org/obo/HP_0032412	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	biolink:PhenotypicFeature	hp			Subcortical band heterotopia diffuse	http://purl.obolibrary.org/obo/HP_0032413	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032414	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032415	Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.
HP:0032416	Retinal microaneurysm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032416	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	biolink:PhenotypicFeature	hp	PMID:32866505		Periglomerular fibrotic thickening	http://purl.obolibrary.org/obo/HP_0032417	Circumferential fibrosis in the interstitium surrounding Bowman's capsule
HP:0032418	Abnormal HDL subfraction concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032418	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032419	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032420	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032421	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032422	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032423	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032424	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032425	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032426	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032427	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032428	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032429	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032430	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032431	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032432	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032433	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032434	Separation of the umbilical cord occurs at an abnormally late timepoint.
HP:0032435	Neonatal omphalitis	biolink:PhenotypicFeature	hp			Omphalitis	http://purl.obolibrary.org/obo/HP_0032435	An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.
HP:0032436	Abnormal C-reactive protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032436	Any deviation from the normal concentration of C-reactive protein in the blood circulation.
HP:0032437	Reduced C-reactive protein level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032437	An abnormal decrease of the C-reactive protein level in serum.
HP:0032438	Platelet anisocytosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032438	Abnormally increased variability in the size of platelets.
HP:0032439	Airborn particle hypersensitivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032439	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032440	ABO phenotype B, corresponding to the genotype BO or BB.
HP:0032441	Blood group AB	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032441	ABO phenotype AB, corresponding to the genotype AB.
HP:0032442	Blood group O	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032442	ABO phenotype O, corresponding to the genotype OO.
HP:0032443	Past medical history	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032443	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	biolink:PhenotypicFeature	hp			s/p organ transplantation	http://purl.obolibrary.org/obo/HP_0032444	The affected individual has received an organ transplant previous to the current medical encounter.
HP:0032445	Pulmonary cyst	biolink:PhenotypicFeature	hp			Lung cyst	http://purl.obolibrary.org/obo/HP_0032445	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	biolink:PhenotypicFeature	hp			Pulmonary bullae	http://purl.obolibrary.org/obo/HP_0032446	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032447	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032448	A condition in which production of hydrochloric acid in the stomach is absent.
HP:0032449	Abnormal dermoepidermal hemidesmosome morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032449	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032450	Detection of arsenic in the blood circulation.
HP:0032451	Oral melanotic macule	biolink:PhenotypicFeature	hp			Melanotic macule of oral mucosa	http://purl.obolibrary.org/obo/HP_0032451	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032452	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032453	Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.
HP:0032454	Labial melanotic macule	biolink:PhenotypicFeature	hp			Labial melanotic freckle	http://purl.obolibrary.org/obo/HP_0032454	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032455	Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.
HP:0032456	Unlayered lissencephaly	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032456	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032457	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	biolink:PhenotypicFeature	hp			Medullary cavity obliteration|Narrowing of bone marrow canal|Narrowing of bone medullary canal|Narrowing of the marrow cavity	http://purl.obolibrary.org/obo/HP_0032458	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032459	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032460	Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
HP:0032461	obsolete Tiger-tail banding	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032461	
HP:0032462	Increased circulating palmitate level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032462	An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.
HP:0032463	Reduced circulating fibronectin level	biolink:PhenotypicFeature	hp			Decreased plasma fibronectin	http://purl.obolibrary.org/obo/HP_0032463	A reduction below the normal concentration of fibronectin the the blood circulation.
HP:0032464	Ureteral hypoplasia	biolink:PhenotypicFeature	hp			Hypoplasia of the ureter|Ureter hypoplasia	http://purl.obolibrary.org/obo/HP_0032464	Underdevelopment of the ureter.
HP:0032465	Bladder trabeculation	biolink:PhenotypicFeature	hp			Trabecular bladder	http://purl.obolibrary.org/obo/HP_0032465	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	biolink:PhenotypicFeature	hp			Aplastic olfactory bulb|Olfactory bulb aplasia	http://purl.obolibrary.org/obo/HP_0032466	Lack of formation (congenital absence) of the olfactory bulb.
HP:0032467	Past obstetric history	biolink:PhenotypicFeature	hp			Maternal medical history	http://purl.obolibrary.org/obo/HP_0032467	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032468	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032469	Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.
HP:0032470	Monilethrix	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032470	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032471	Polymicrogyria affecting one or multiple small areas of the cerebral cortex.
HP:0032472	Abnormal urine urobilinogen level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032472	An abnormal concentration of urobilinogen in the urine.
HP:0032473	Decreased urine urobilinogen	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032473	An abnormally reduced concentration of urobilinogen in the urine.
HP:0032475	6-layered lissencephaly	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032475	
HP:0032476	Abnormal circulating vitamin B6 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032476	An abnormal concentration of vitamin B6 in the blood circulation.
HP:0032477	Elevated circulating vitamin B6 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032477	An abnormally increased concentration of vitamin B6 in the blood circulation.
HP:0032478	Lateral spinal meningocele	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032478	Protrusion of the arachnoid and dura through spinal foramina.
HP:0032479	Preimplantation lethality	biolink:PhenotypicFeature	hp			Preimplantation embryonic lethality	http://purl.obolibrary.org/obo/HP_0032479	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032480	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032481	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	biolink:PhenotypicFeature	hp			Decreased pituitary glycoprotein alpha subunit level|Decreased pituitary glycoprotein polypeptide alpha subunit level	http://purl.obolibrary.org/obo/HP_0032482	An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).
HP:0032483	Abnormal fecal test result	biolink:PhenotypicFeature	hp			Abnormal faecal test result	http://purl.obolibrary.org/obo/HP_0032483	Abnormal level of metabolite or other abnormal analyte result in a stool test.
HP:0032484	Elevated fecal sodium	biolink:PhenotypicFeature	hp			Elevated faecal sodium	http://purl.obolibrary.org/obo/HP_0032484	An elevated concentration of sodium in feces.
HP:0032485	Abnormal fecal osmolality	biolink:PhenotypicFeature	hp			Abnormal faecal osmolality	http://purl.obolibrary.org/obo/HP_0032485	Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.
HP:0032486	Elevated fecal osmolality	biolink:PhenotypicFeature	hp			Elevated faecal osmolality	http://purl.obolibrary.org/obo/HP_0032486	Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.
HP:0032487	Reduced fecal osmolality	biolink:PhenotypicFeature	hp			Reduced faecal osmolality	http://purl.obolibrary.org/obo/HP_0032487	Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.
HP:0032488	Abnormal fecal pH	biolink:PhenotypicFeature	hp			Abnormal faecal pH	http://purl.obolibrary.org/obo/HP_0032488	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	biolink:PhenotypicFeature	hp			Elevated faecal pH	http://purl.obolibrary.org/obo/HP_0032489	Abnormally high fecal pH, i.e., abnormal alkalinity of feces.
HP:0032490	Decreased fecal pH	biolink:PhenotypicFeature	hp			Decreased faecal pH	http://purl.obolibrary.org/obo/HP_0032490	Abnormally low fecal pH, i.e., abnormal acidity of feces.
HP:0032491	Increased circulating argininosuccinic acid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032491	An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.
HP:0032492	Anti-myelin oligodendrocyte glycoprotein antibody positivity	biolink:PhenotypicFeature	hp			Anti-MOG antibody positivity	http://purl.obolibrary.org/obo/HP_0032492	Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.
HP:0032493	Increased circulating trypsinogen	biolink:PhenotypicFeature	hp			Increased immunoreactive trypsinogen	http://purl.obolibrary.org/obo/HP_0032493	An abnormally high concentration of trypsinogen in the blood circulation.
HP:0032495	Abnormal terminal:vellus ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032495	A deviation from the normal proportion of terminal to vellus hairs.
HP:0032496	Elevated terminal:vellus ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032496	An increased proportion of terminal hairs compared to vellus hairs.
HP:0032497	Reduced terminal:vellus ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032497	A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.
HP:0032499	Giant neutrophil granules	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032499	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	biolink:PhenotypicFeature	hp			Aggravated by tobacco use|Exacerbated by smoking|Smoking or tobacco use exacerbates symptoms	http://purl.obolibrary.org/obo/HP_0032500	Applied to a sign or symptom that is worsened by smoking tobacco products.
HP:0032501	Exacerbated by contraceptive medication	biolink:PhenotypicFeature	hp			Contraceptive pills aggravate symptoms	http://purl.obolibrary.org/obo/HP_0032501	Applied to a sign or symptom that is worsened by taking contraceptive medication.
HP:0032502	Exacerbated by barbiturate medication	biolink:PhenotypicFeature	hp			Barbiturates produce worsening	http://purl.obolibrary.org/obo/HP_0032502	Applied to a sign or symptom that is worsened by taking barbituates.
HP:0032503	Ameliorated by ethanol ingestion	biolink:PhenotypicFeature	hp			Ethanol reduces manifestations	http://purl.obolibrary.org/obo/HP_0032503	Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).
HP:0032504	Lhermitte's sign	biolink:PhenotypicFeature	hp			Barber chair phenomenon|Lhermitte's phenomenon	http://purl.obolibrary.org/obo/HP_0032504	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032505	Pharyngeal spasms provoked by an attempt to drink.
HP:0032506	Alien limb phenomenon	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032506	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	biolink:PhenotypicFeature	hp			Fasciculations, labiomental	http://purl.obolibrary.org/obo/HP_0032507	Fasciculations affecting the tongue muscle and the musculature of the chin.
HP:0032508	Polyembolokoilamania	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032508	Habitual insertion of foreign bodies into bodily orifices.
HP:0032509	Onychotillomania	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032509	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032510	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.
HP:0032511	Superiorly positioned umbilicus	biolink:PhenotypicFeature	hp			The position of the umbilicus (belly button) is abnormally high (superior).	http://purl.obolibrary.org/obo/HP_0032511	
HP:0032513	Four-vessel umbilical cord	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032513	Four-vessel umbilical cord containing two arteries and two veins.
HP:0032514	Duplicated lacrimal punctum	biolink:PhenotypicFeature	hp			Double lacrimal puncta|Lacrimal punctum, duplication	http://purl.obolibrary.org/obo/HP_0032514	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032515	A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.
HP:0032516	Invasive dermatophyte infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032516	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032517	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032518	A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.
HP:0032519	Increased Burr cell count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032519	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032520	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	biolink:PhenotypicFeature	hp			Spasmodic upper-body squeeze	http://purl.obolibrary.org/obo/HP_0032521	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	biolink:PhenotypicFeature	hp			Immunosupressive therapy improves condition	http://purl.obolibrary.org/obo/HP_0032522	Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.
HP:0032523	Tendon thickening	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032523	An abnormal increase in the thickness (diameter) of a tendon.
HP:0032524	Long thumb	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032524	Length of the thumb is greater than normal.
HP:0032525	Aggravated by acetylcholinesterase inhibitor	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032525	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032526	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	biolink:PhenotypicFeature	hp			Low set umbilicus|Low-set umbilicus	http://purl.obolibrary.org/obo/HP_0032527	The position of the umbilicus (belly button) is abnormally low (inferior).
HP:0032528	Elevated urinary 4-hydroxybutyric acid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032528	An increased amount of 4-hydroxybutyric acid in the urine.
HP:0032529	Elevated circulating gamma-aminobutyric acid concentration	biolink:PhenotypicFeature	hp			Elevated circulating GABA concentration	http://purl.obolibrary.org/obo/HP_0032529	An increased concentration of gamma-aminobutyric acid (GABA) in the blood circulation.
HP:0032530	Decreased succinic semialdehyde dehydrogenase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032530	Reduced level of succinic semialdehyde dehydrogenase (SSADH).
HP:0032531	Elevated CSF gamma-aminobutyric acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032531	
HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration	biolink:PhenotypicFeature	hp			Elevated CSF GHB levels|Elevated CSF gamma-hydroxybutyric acid	http://purl.obolibrary.org/obo/HP_0032532	Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).
HP:0032533	Elevated circulating acetone concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032533	An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.
HP:0032534	Exacerbated by methylxanthine ingestion	biolink:PhenotypicFeature	hp			Methylxanthines produce worsening	http://purl.obolibrary.org/obo/HP_0032534	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)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032535	Applies to an abnormality that is situated in the neck.
HP:0032536	Increased number of lymph nodes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032536	An abnormally elevated number of lymph nodes in an anatomical region.
HP:0032537	Delayed fracture healing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032537	A delay in healing of a fracture past the expected duration.
HP:0032538	Pretibial dimple	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032538	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032539	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032540	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	biolink:PhenotypicFeature	hp			Knuckle pads on dorsal aspect of finger joints	http://purl.obolibrary.org/obo/HP_0032541	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032542	Applied to a sign or symptom that is worsened by being pregnant.
HP:0032543	Lithoptysis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032543	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032544	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	biolink:PhenotypicFeature	hp			Rigid abdomen	http://purl.obolibrary.org/obo/HP_0032545	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032546	A voluntary contraction of the abdominal wall musculature to avoid pain.
HP:0032547	Low intraocular pressure	biolink:PhenotypicFeature	hp			Ocular hypotony	http://purl.obolibrary.org/obo/HP_0032547	An abnormal decrease of the pressure within the eye.
HP:0032548	Increased placental thickness	biolink:PhenotypicFeature	hp			Placental thickness increased	http://purl.obolibrary.org/obo/HP_0032548	Abnormally elevated placental thickness.
HP:0032549	Persistent asymmetrical tonic neck reflex	biolink:PhenotypicFeature	hp			Persistent fencer's reflex|Tonic neck reflex asymmetrical and persistent	http://purl.obolibrary.org/obo/HP_0032549	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032550	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	biolink:PhenotypicFeature	hp			Haemorrhoids|Piles	http://purl.obolibrary.org/obo/HP_0032551	Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.
HP:0032552	Abnormal pulse	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032552	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032553	A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.
HP:0032554	Absent pulse	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032554	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032555	Increased amplitude (strength) of the pulse.
HP:0032556	Circumoral cyanosis	biolink:PhenotypicFeature	hp			Bluish lips	http://purl.obolibrary.org/obo/HP_0032556	Persistent blue color of the skin that surrounds the mouth.
HP:0032557	History of bone marrow transplant	biolink:PhenotypicFeature	hp			Status post hematopoietic stem cell transplantation	http://purl.obolibrary.org/obo/HP_0032557	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032558	Sperm cells lacking flagella.
HP:0032559	Short sperm flagella	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032559	Sperm cells with abnormally short flagella.
HP:0032560	Coiled sperm flagella	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032560	Sperm cells whose flagella are twisted (coiled).
HP:0032561	Microcephalic sperm head	biolink:PhenotypicFeature	hp			Small-head sperm	http://purl.obolibrary.org/obo/HP_0032561	Decreased size of the head of sperm.
HP:0032562	Tapered sperm head	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032562	Sperm with cigar-shaped heads that gradually dimish in diameter (taper).
HP:0032563	Dacryocytosis	biolink:PhenotypicFeature	hp			Dacryocytes|Tear-drop shaped erythrocytes	http://purl.obolibrary.org/obo/HP_0032563	Presence of teardrop-shaped red blood cells.
HP:0032564	Ileitis	biolink:PhenotypicFeature	hp			Inflammation of the ileum	http://purl.obolibrary.org/obo/HP_0032564	Inflammation of the ileum.
HP:0032565	Vaginal mucosal ulceration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032565	
HP:0032566	Oval macrocytosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032566	Enlarged, oval-shaped erythrocytes (red blood cells).
HP:0032567	Lipiduria	biolink:PhenotypicFeature	hp			Urinary lipid excretion	http://purl.obolibrary.org/obo/HP_0032567	An increased lipid content in the urine.
HP:0032568	Urinary mulberry cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032568	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032569	
HP:0032570	Pontine ischemic lacunes	biolink:PhenotypicFeature	hp			Pontine ischaemic lacunes	http://purl.obolibrary.org/obo/HP_0032570	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032571	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032572	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032573	Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.
HP:0032574	Elevated uridine in urine	biolink:PhenotypicFeature	hp			Elevated uridine in urine	http://purl.obolibrary.org/obo/HP_0032574	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	biolink:PhenotypicFeature	hp			Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration	http://purl.obolibrary.org/obo/HP_0032575	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032576	Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.
HP:0032577	Clonal T cell receptor rearrangement	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032577	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032578	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032579	A benign focal growth composed of vascular tissue.
HP:0032580	Abnormal bulbus cordis morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032580	Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.
HP:0032581	Abnormal renal insterstitial morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032581	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032582	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032583	
HP:0032584	Renal interstitial neutrophil infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032584	Increased numbers of neutrophils in the interstitial tissues of the kidney.
HP:0032585	Renal interstitial eosinophil infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032585	Increased numbers of eosinophils in the interstitial tissues of the kidney.
HP:0032586	Renal interstitial plasma cell infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032586	Increased numbers of plasma cells in the interstitial tissues of the kidney.
HP:0032587	Renal interstitial calcium oxalate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032587	The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.
HP:0032588	Hand apraxia	biolink:PhenotypicFeature	hp			Lack of purposeful hand use	http://purl.obolibrary.org/obo/HP_0032588	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032589	Infiltration of the renal tubular epithelium by lymphocytes.
HP:0032590	Renal neutrophilic tubulitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032590	Infiltration of the renal tubular epithelium by neutrophils.
HP:0032591	Renal interstitial hemosiderin	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032591	Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.
HP:0032592	Aplasia of the right hemidiaphragm	biolink:PhenotypicFeature	hp			Right diaphragmatic hernia	http://purl.obolibrary.org/obo/HP_0032592	Congenital absence of the right-sided diaphragm.
HP:0032593	Myoglobin casts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032593	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	biolink:PhenotypicFeature	hp			Denuded tubular basement membrane	http://purl.obolibrary.org/obo/HP_0032594	Naked basement membranes without tubular epithelium.
HP:0032595	Renal tubular epithelial cell detachment	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032595	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032596	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032597	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032598	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032599	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032600	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032601	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032602	Tubular epithelium with nucleoli clearly visible at 100-fold magnification.
HP:0032603	Renal tubular epithelial cell simplification	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032603	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032604	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	biolink:PhenotypicFeature	hp			High N/C ratio of renal tubular epithelial cells	http://purl.obolibrary.org/obo/HP_0032605	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032606	Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.
HP:0032607	Renal tubular epithelial cell swelling	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032607	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032608	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	biolink:PhenotypicFeature	hp			Endocrinization pattern of tubular atrophy|Renal tubular atrophy, endocrine-type	http://purl.obolibrary.org/obo/HP_0032609	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	biolink:PhenotypicFeature	hp			Renal tubulointerstitial mycobacterial organisms	http://purl.obolibrary.org/obo/HP_0032610	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032611	Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.
HP:0032612	Triphalangeal hallux	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032612	A hallux (big toe) with three phalanges in a single, proximo-distal axis.
HP:0032613	Renal interstitial amyloid deposits	biolink:PhenotypicFeature	hp			Renal interstitial amyloid|Renal interstitial amyloid deposition|Renal interstitial amyloidosis	http://purl.obolibrary.org/obo/HP_0032613	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032614	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	biolink:PhenotypicFeature	hp			Diffusion weighted imaging (DWI) abnormality|Diffusion weighted magnetic resonance imaging (DWI) abnormality|MRI diffusion abnormality of the cerebrum	http://purl.obolibrary.org/obo/HP_0032615	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	biolink:PhenotypicFeature	hp			Renal interstitial immunoglobulin deposition	http://purl.obolibrary.org/obo/HP_0032616	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	biolink:PhenotypicFeature	hp			Renal interstitial haemorrhage	http://purl.obolibrary.org/obo/HP_0032617	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	biolink:PhenotypicFeature	hp			Renal parenchymal necrosis	http://purl.obolibrary.org/obo/HP_0032618	Cell death (necrosis) affecting one or more parts of the kidney.
HP:0032619	Perinephric abscess	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032619	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	biolink:PhenotypicFeature	hp			Renal abscess|Renal parenchymal abcess	http://purl.obolibrary.org/obo/HP_0032620	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	biolink:PhenotypicFeature	hp			Condensed chromatin of renal tubular epithelial cells	http://purl.obolibrary.org/obo/HP_0032621	At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.
HP:0032622	Tubular luminal dilatation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032622	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	biolink:PhenotypicFeature	hp			Tubular casts	http://purl.obolibrary.org/obo/HP_0032623	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032624	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032625	Casts that contain red blood cells and are located within the tubuli of the kidney.
HP:0032626	Intratubular vancomycin casts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032626	Intratubular casts composed of vancomycin aggregates and uromodulin.
HP:0032627	Intratubular leukocyte casts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032627	Casts that contain white blood cells and are located within the tubuli of the kidney.
HP:0032628	Renal intratubular crystals	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032628	
HP:0032629	Intratubular dihydroxyadenuria crystals	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032629	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032630	The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.
HP:0032631	Intratubular hemoglobin casts	biolink:PhenotypicFeature	hp			Intratubular haemoglobin casts	http://purl.obolibrary.org/obo/HP_0032631	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032632	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	biolink:PhenotypicFeature	hp			Intratubular Tamm-Horsfall (uromodulin) casts	http://purl.obolibrary.org/obo/HP_0032633	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032634	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032635	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	biolink:PhenotypicFeature	hp			Renal tubulointerstitial viral inclusions	http://purl.obolibrary.org/obo/HP_0032636	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	biolink:PhenotypicFeature	hp			Renal interstitial oedema	http://purl.obolibrary.org/obo/HP_0032637	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	biolink:PhenotypicFeature	hp			Elevated urine mevalonate|Elevated urine mevalonate levels|Mevalonate aciduria	http://purl.obolibrary.org/obo/HP_0032638	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032639	An increased concentration of cystine within white blood cells.
HP:0032640	Elevated circulating CCL18 level	biolink:PhenotypicFeature	hp			Increased C-C motif chemokine ligand 18 concentration	http://purl.obolibrary.org/obo/HP_0032640	An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.
HP:0032641	Renal interstitial granulomas	biolink:PhenotypicFeature	hp			Renal interstitial granulomata	http://purl.obolibrary.org/obo/HP_0032641	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	biolink:PhenotypicFeature	hp			Renal interstitial necrotizing granulomata	http://purl.obolibrary.org/obo/HP_0032642	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	biolink:PhenotypicFeature	hp			Renal interstitial non-necrotizing granulomata	http://purl.obolibrary.org/obo/HP_0032643	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032644	Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.
HP:0032645	Renal interstitial mononuclear cell infiltration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032645	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032646	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032647	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032648	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	biolink:PhenotypicFeature	hp			Skew foot|Skew-foot	http://purl.obolibrary.org/obo/HP_0032649	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032650	Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.
HP:0032651	Elevated CSF chitinase-3-like protein 1 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032651	Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.
HP:0032652	Elevated CSF chitotriosidase 1 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032652	Increased concentration of chitotriosidase 1 in cerebrospinal fluid.
HP:0032653	Elevated lactate:pyruvate ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032653	An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.
HP:0032654	Impaired flow-mediated arterial dilatation	biolink:PhenotypicFeature	hp			Endothelial dysfunction	http://purl.obolibrary.org/obo/HP_0032654	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032655	A reduced concentration of tocopherol in fat tissue.
HP:0032656	Febrile status epilepticus	biolink:PhenotypicFeature	hp			Fever-induced status epilepticus	http://purl.obolibrary.org/obo/HP_0032656	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032657	An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.
HP:0032658	Status epilepticus with prominent motor symptoms	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032658	Status epilepticus with prominent motor signs during the prolonged seizure.
HP:0032659	Non-convulsive status epilepticus with coma	biolink:PhenotypicFeature	hp			Subtle status epilepticus	http://purl.obolibrary.org/obo/HP_0032659	A type of status epilepticus without prominent motor symptoms and in the presence of coma.
HP:0032660	Convulsive status epilepticus	biolink:PhenotypicFeature	hp			Tonic-clonic status epilepticus	http://purl.obolibrary.org/obo/HP_0032660	A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between. comment:  source:  seeAlso: Tonic-clonic status epilepticus
HP:0032661	Generalized convulsive status epilepticus	biolink:PhenotypicFeature	hp			Generalised convulsive status epilepticus	http://purl.obolibrary.org/obo/HP_0032661	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	biolink:PhenotypicFeature	hp			Focal onset seizure evolving into bilateral convulsive status epilepticus|Focal-onset seizure evolving into generalized convulsive status epilepticus|Partial onset seizure evolving into convulsive status epilepticus|Partial-onset seizure evolving into convulsive status epilepticus|Secondarily generalised tonic-clonic status epilepticus|Secondarily generalized convulsive status epilepticus|Secondarily generalized tonic-clonic status epilepticus	http://purl.obolibrary.org/obo/HP_0032662	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032663	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032664	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	biolink:PhenotypicFeature	hp			Jacksonian status epilepticus	http://purl.obolibrary.org/obo/HP_0032665	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032666	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032667	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032668	A type of myoclonic status epilepticus in the absence of coma.
HP:0032669	Myoclonic status epilepticus with coma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032669	A type of myoclonic status epilepticus in the presence of coma.
HP:0032670	Tonic status epilepticus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032670	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032671	A type of status epilepticus without prominent motor symptoms in the absence of coma.
HP:0032672	Autonomic status epilepticus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032672	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032673	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	biolink:PhenotypicFeature	hp			Skin wound	http://purl.obolibrary.org/obo/HP_0032674	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032675	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	biolink:PhenotypicFeature	hp			Chronic nonhealing cutaneous wound	http://purl.obolibrary.org/obo/HP_0032676	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	biolink:PhenotypicFeature	hp			Generalised onset motor seizure|Generalised-onset motor seizure|Generalized onset motor seizure	http://purl.obolibrary.org/obo/HP_0032677	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032678	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	biolink:PhenotypicFeature	hp			Focal seizure without motor onset|Partial seizure without motor onset	http://purl.obolibrary.org/obo/HP_0032679	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	biolink:PhenotypicFeature	hp			Cognitive aura|Cognitive seizure|Partial cognitive seizure	http://purl.obolibrary.org/obo/HP_0032680	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032681	A focal aware cognitive seizure during which awareness is retained throughout the seizure.
HP:0032682	Focal aware non-motor seizure	biolink:PhenotypicFeature	hp			Focal non-motor aware seizure	http://purl.obolibrary.org/obo/HP_0032682	A focal non-motor seizure in which awareness is retained throughout the seizure.
HP:0032683	obsolete Focal aware cognitive seizure with impaired attention	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032683	
HP:0032684	Focal aware cognitive seizure with auditory agnosia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032684	A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.
HP:0032685	Focal cognitive seizure with auditory agnosia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032685	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032686	A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.
HP:0032687	Focal cognitive seizure with memory impairment	biolink:PhenotypicFeature	hp			Amnestic aura|Amnestic seizure	http://purl.obolibrary.org/obo/HP_0032687	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032688	A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.
HP:0032689	Focal cognitive seizure with dissociation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032689	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032690	A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.
HP:0032691	Focal cognitive seizure with dyscalculia/acalculia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032691	A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.
HP:0032692	Focal cognitive seizure with forced thinking	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032692	A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.
HP:0032693	Focal cognitive seizure with neglect	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032693	A focal cognitive seizure characterized by neglect as the initial semiological manifestation.
HP:0032694	Focal cognitive seizure with dyslexia/alexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032694	A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.
HP:0032695	obsolete Illusory auras	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032695	
HP:0032696	Focal cognitive seizure with receptive dysphasia/aphasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032696	A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.
HP:0032697	obsolete Focal cognitive seizure with deja vu/jamais vu	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032697	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:0032698	Focal cognitive seizure with conduction dysphasia/aphasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032698	A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.
HP:0032699	Focal cognitive seizure with dysgraphia/agraphia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032699	A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.
HP:0032700	Focal cognitive seizure with left-right confusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032700	A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.
HP:0032701	Focal cognitive seizure with anomia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032701	A focal cognitive seizure characterized by anomia as the initial semiological manifestation.
HP:0032702	Focal cognitive seizure with expressive dysphasia/aphasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032702	A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.
HP:0032703	obsolete Hallucinatory aura	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032703	
HP:0032704	Focal aware cognitive seizure with illusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032704	A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.
HP:0032705	Focal aware cognitive seizure with forced thinking	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032705	A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.
HP:0032706	Focal aware cognitive seizure with left-right confusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032706	A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.
HP:0032707	Focal aware cognitive seizure with dyslexia/alexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032707	A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.
HP:0032708	Focal aware cognitive seizure with anomia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032708	A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.
HP:0032709	Focal aware cognitive seizure with dysgraphia/agraphia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032709	A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.
HP:0032710	Focal aware cognitive seizure with receptive dysphasia/aphasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032710	A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.
HP:0032711	Focal aware clonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032711	A type of focal clonic seizure during which awareness is fully retained throughout.
HP:0032712	Focal impaired awareness motor seizure	biolink:PhenotypicFeature	hp			Focal motor impaired awareness seizure	http://purl.obolibrary.org/obo/HP_0032712	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	biolink:PhenotypicFeature	hp			Focal motor impaired awareness seizure with version	http://purl.obolibrary.org/obo/HP_0032713	A focal motor seizure with version characterized by impaired awareness at some point during the seizure.
HP:0032714	Focal impaired awareness bilateral motor seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032714	A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.
HP:0032715	Focal bilateral motor seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032715	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	biolink:PhenotypicFeature	hp			Focal non-motor impaired awareness seizure	http://purl.obolibrary.org/obo/HP_0032716	A focal non-motor seizure characterized by impaired awareness at some point during the seizure.
HP:0032717	Focal impaired awareness motor seizure with dystonia	biolink:PhenotypicFeature	hp			Focal motor impaired awareness seizure with dystonia	http://purl.obolibrary.org/obo/HP_0032717	A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.
HP:0032718	Focal motor seizure with dystonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032718	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	biolink:PhenotypicFeature	hp			Focal motor impaired awareness seizure with dysarthria/anarthria	http://purl.obolibrary.org/obo/HP_0032719	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032720	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032721	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032722	A type of focal tonic seizure during which awareness is fully retained throughout.
HP:0032723	Focal aware motor seizure with dystonia	biolink:PhenotypicFeature	hp			Focal motor aware seizure with dystonia	http://purl.obolibrary.org/obo/HP_0032723	A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.
HP:0032724	Focal impaired awareness tonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032724	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032725	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032726	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032727	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032728	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032729	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032730	A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032731	Focal aware hyperkinetic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032731	A type of focal hypermotor seizure during which awareness is fully retained throughout.
HP:0032732	Focal aware motor seizure with paresis/paralysis	biolink:PhenotypicFeature	hp			Focal motor aware seizure with paresis/paralysis	http://purl.obolibrary.org/obo/HP_0032732	A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.
HP:0032733	Focal aware motor seizure with dysarthria/anarthria	biolink:PhenotypicFeature	hp			Focal motor aware seizure with dysarthria/anarthria	http://purl.obolibrary.org/obo/HP_0032733	A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.
HP:0032734	Focal aware emotional seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032734	A focal emotional seizure during which awareness is retained throughout the seizure.
HP:0032735	Focal aware emotional seizure with anger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032735	Focal emotional seizure with anger in which awareness is retained throughout.
HP:0032736	Focal emotional seizure with anger	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032736	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032737	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032738	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032739	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	biolink:PhenotypicFeature	hp			Focal autonomic seizures without altered responsiveness|Localized autonomic seizures without altered responsiveness|Partial autonomic seizures without altered responsiveness	http://purl.obolibrary.org/obo/HP_0032740	A focal autonomic seizure characterised by retained awareness throughout the seizure.
HP:0032741	Focal aware emotional seizure with paranoia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032741	Focal emotional seizure with paranoia in which awareness is retained throughout.
HP:0032742	Focal aware emotional seizure with pleasure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032742	Focal emotional seizure with pleasure in which awareness is retained throughout.
HP:0032743	Focal aware emotional seizure with crying	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032743	Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.
HP:0032744	Focal aware emotional seizure with agitation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032744	Focal emotional seizure with agitation in which awareness is retained throughout.
HP:0032745	Focal aware emotional seizure with laughing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032745	Focal emotional seizure with laughing in which awareness is retained throughout.
HP:0032746	Focal impaired awareness emotional seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032746	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032747	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032748	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032749	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032750	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032751	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032752	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032753	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032754	A focal sensory seizure during which awareness is retained throughout the seizure.
HP:0032755	Focal impaired awareness autonomic seizure	biolink:PhenotypicFeature	hp			Focal autonomic seizure with altered responsiveness|Localized autonomic seizure with altered responsiveness|Partial autonomic seizure with altered responsiveness	http://purl.obolibrary.org/obo/HP_0032755	A focal autonomic seizure characterised by impaired awareness at some point within the seizure.
HP:0032756	Focal impaired awareness cognitive seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032756	A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.
HP:0032757	Focal aware hemiclonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032757	A focal hemiclonic seizure in which awareness is retained throughout.
HP:0032758	Focal aware myoclonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032758	A type of focal myoclonic seizure during which awareness is fully retained throughout.
HP:0032759	Focal sensory seizure with vestibular features	biolink:PhenotypicFeature	hp			Focal vestibular seizure|Partial vestibular seizure|Vestibular aura	http://purl.obolibrary.org/obo/HP_0032759	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032760	A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.
HP:0032761	Focal aware autonomic seizure with pallor/flushing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032761	A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.
HP:0032762	Focal autonomic seizure with pallor/flushing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032762	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032763	A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.
HP:0032764	Focal autonomic seizure with erection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032764	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032765	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032766	A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.
HP:0032767	Focal autonomic seizure with piloerection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032767	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032768	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032769	An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.
HP:0032770	Focal aware autonomic seizure with erection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032770	A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.
HP:0032771	Focal autonomic seizure with lacrimation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032771	A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.
HP:0032772	Focal impaired awareness autonomic seizure with piloerection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032772	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032773	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032774	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032775	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032776	
HP:0032777	Focal impaired awareness autonomic seizure with pallor/flushing	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032777	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032778	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032779	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032780	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032781	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032782	A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.
HP:0032783	Focal aware autonomic seizure with piloerection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032783	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032784	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032785	A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.
HP:0032786	Migrating focal seizure	biolink:PhenotypicFeature	hp			Migrating partial seizure	http://purl.obolibrary.org/obo/HP_0032786	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032787	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032788	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	biolink:PhenotypicFeature	hp			Focal aware behaviour arrest seizure	http://purl.obolibrary.org/obo/HP_0032789	A focal behavior arrest seizure characterised by retained awareness throughout the seizure.
HP:0032790	Focal impaired awareness behavior arrest seizure	biolink:PhenotypicFeature	hp			Focal impaired awareness behaviour arrest seizure	http://purl.obolibrary.org/obo/HP_0032790	A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure.
HP:0032791	Focal impaired awareness cognitive seizure with anomia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032791	A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.
HP:0032792	Tonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032792	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032793	A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.
HP:0032794	Myoclonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032794	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	biolink:PhenotypicFeature	hp			Generalised myoclonic-tonic-clonic seizure|Generalised onset myoclonic-tonic-clonic seizure|Generalised-onset myoclonic-tonic-clonic seizure|Generalized-onset myoclonic-tonic-clonic seizure|generalized onset myoclonic-tonic-clonic seizure	http://purl.obolibrary.org/obo/HP_0032795	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032796	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032797	Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.
HP:0032798	Focal impaired awareness cognitive seizure with neglect	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032798	A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.
HP:0032799	Focal impaired awareness hemiclonic seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032799	A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.
HP:0032800	Focal aware sensory seizure with vestibular features	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032800	A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.
HP:0032801	Focal impaired awareness cognitive seizure with memory impairment	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032801	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032802	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032803	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032804	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032805	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032806	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032807	A seizure occurring within the neonatal period (28 days beyond the full term date).
HP:0032808	Neonatal seizure with electrographic correlate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032808	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032809	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	biolink:PhenotypicFeature	hp			Cephalic aura|Focal seizure with cephalic sensation|Partial seizure with cephalic sensation	http://purl.obolibrary.org/obo/HP_0032810	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032811	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032812	
HP:0032813	Neonatal electro-clinical motor seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032813	Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.
HP:0032814	Neonatal electro-clinical clonic seizure	biolink:PhenotypicFeature	hp			Neonatal electroclinical clonic seizure	http://purl.obolibrary.org/obo/HP_0032814	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	biolink:PhenotypicFeature	hp			Neonatal electroclinical myoclonic seizure	http://purl.obolibrary.org/obo/HP_0032815	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032816	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032817	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032818	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032819	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032820	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032821	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032822	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	biolink:PhenotypicFeature	hp			Neonatal electro-clinical seizure with behaviour arrest|Neonatal electroclinical seizure with behavioural arrest	http://purl.obolibrary.org/obo/HP_0032823	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032824	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 motor seizure	biolink:PhenotypicFeature	hp			Neonatal electroclinical sequential motor seizure	http://purl.obolibrary.org/obo/HP_0032825	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032826	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032827	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032828	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	biolink:PhenotypicFeature	hp			Neonatal electroclinical motor seizure with automatism	http://purl.obolibrary.org/obo/HP_0032829	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032830	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032831	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032832	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032833	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032834	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032835	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032836	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032837	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032838	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032839	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032840	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032841	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	biolink:PhenotypicFeature	hp			Generalised onset epileptic spasm|Generalised-onset epileptic spasm|Generalized onset epileptic spasm	http://purl.obolibrary.org/obo/HP_0032842	A type of epileptic spasm of generalized onset.
HP:0032843	Focal-onset epileptic spasm	biolink:PhenotypicFeature	hp			Focal onset epileptic spasm	http://purl.obolibrary.org/obo/HP_0032843	A type of epileptic spasm of focal onset.
HP:0032844	Focal impaired awareness epileptic spasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032844	A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.
HP:0032845	Focal aware epileptic spasm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032845	A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.
HP:0032846	Focal motor seizure with negative myoclonus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032846	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032847	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032848	A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.
HP:0032849	Aphasic status epilepticus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032849	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032850	A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.
HP:0032851	Focal aware sensory seizure with visual features	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032851	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032852	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032853	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032854	Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.
HP:0032855	Photosensitive myoclonic-tonic-clonic seizure	biolink:PhenotypicFeature	hp			Photically induced myoclonic-tonic-clonic seizure	http://purl.obolibrary.org/obo/HP_0032855	Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.
HP:0032856	Focal aware bilateral motor seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032856	A type of focal bilateral motor seizure during which awareness is fully retained throughout.
HP:0032857	Focal aware motor seizure with negative myoclonus	biolink:PhenotypicFeature	hp			Focal motor aware seizure with negative myoclonus	http://purl.obolibrary.org/obo/HP_0032857	A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.
HP:0032858	Focal impaired awareness motor seizure with negative myoclonus	biolink:PhenotypicFeature	hp			Focal motor impaired awareness seizure with negative myoclonus	http://purl.obolibrary.org/obo/HP_0032858	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	biolink:PhenotypicFeature	hp			Focal motor impaired awareness seizure with paresis/paralysis	http://purl.obolibrary.org/obo/HP_0032859	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	biolink:PhenotypicFeature	hp			Absence status epilepticus|Generalised non-convulsive status epilepticus without coma|Petit mal status epilepticus	http://purl.obolibrary.org/obo/HP_0032860	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	biolink:PhenotypicFeature	hp			Focal non-convulsive status epilepticus with impairment of awareness	http://purl.obolibrary.org/obo/HP_0032861	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	biolink:PhenotypicFeature	hp			Focal inhibitory status epilepticus	http://purl.obolibrary.org/obo/HP_0032862	A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.
HP:0032863	Typical absence status epilepticus	biolink:PhenotypicFeature	hp			Simple absence status epilepticus	http://purl.obolibrary.org/obo/HP_0032863	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032864	A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.
HP:0032865	Myoclonic absence status epilepticus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032865	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032866	A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.
HP:0032867	Refractory status epilepticus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032867	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032868	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	biolink:PhenotypicFeature	hp			Aura continua|Focal non-convulsive status epilepticus with retained awareness|Focal non-convulsive status epilepticus without impairment of awareness	http://purl.obolibrary.org/obo/HP_0032869	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032870	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032871	A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.
HP:0032872	Focal impaired awareness cognitive seizure with illusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032872	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032873	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032874	A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.
HP:0032875	obsolete Focal impaired awareness cognitive seizure with impaired responsiveness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032875	
HP:0032876	Focal aware cognitive seizure with conduction dysphasia/aphasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032876	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032877	A seizure characterized by sensations of feeling hot and then cold.
HP:0032878	Focal impaired awareness sensory seizure with cephalic sensation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032878	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032879	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032880	A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.
HP:0032881	obsolete Focal aware cognitive seizure with impaired responsiveness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032881	
HP:0032882	Focal impaired awareness cognitive seizure with deja vu/jamais vu	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032882	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032883	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032884	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032885	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032886	A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.
HP:0032887	Generalized atonic seizure	biolink:PhenotypicFeature	hp			Generalised atonic seizure	http://purl.obolibrary.org/obo/HP_0032887	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032888	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032889	A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.
HP:0032890	Focal impaired awareness sensory seizure with somatosensory features	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032890	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	biolink:PhenotypicFeature	hp			Focal motor aware seizure with version	http://purl.obolibrary.org/obo/HP_0032891	A focal motor seizure with version characterized by retained awareness throughout the seizure.
HP:0032892	Infection-related seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032892	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032893	Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.
HP:0032894	Seizure precipitated by febrile infection	biolink:PhenotypicFeature	hp			Fever induced seizure	http://purl.obolibrary.org/obo/HP_0032894	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032895	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032896	Seizure precipitated by listening to music or other complex sounds.
HP:0032897	Focal impaired awareness sensory seizure with gustatory features	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032897	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032898	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032899	A type of focal automatism seizure characterized by orofacial automatisms at onset.
HP:0032900	Focal manual automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032900	A type of focal automatism seizure characterized by manual automatisms at onset.
HP:0032901	Focal pedal automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032901	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032902	A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.
HP:0032903	Focal vocal automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032903	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032904	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032905	A type of focal automatism seizure characterized by involuntary sexual behavior at onset.
HP:0032906	Focal head nodding automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032906	A type of focal automatism seizure characterized by involuntary head nodding at onset.
HP:0032907	Focal undressing automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032907	A type of focal automatism seizure characterized by involuntary undressing at onset.
HP:0032908	Focal aware undressing automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032908	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032909	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032910	A type of focal automatism seizure during which awareness is fully retained throughout.
HP:0032911	Focal aware orofacial automatism seizure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032911	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032912	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032913	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032914	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032915	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032916	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032917	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032918	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032919	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032920	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032921	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032922	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032923	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032924	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032925	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032926	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032927	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 neurofilamant light chain	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032928	Definition: 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032929	Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.
HP:0032930	Lacunar halos around chondrocytes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032930	Concentric rings around the chondrocytes.
HP:0032931	obsolete Focal impaired awareness cognitive seizure with impaired attention	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032931	
HP:0032932	Increased circulating pancreatic triacylglycerol lipase level	biolink:PhenotypicFeature	hp			Elevated circulating pancreatic triacylglycerol lipase activity	http://purl.obolibrary.org/obo/HP_0032932	An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).
HP:0032933	Airway hyperresponsiveness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032933	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032934	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032935	Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.
HP:0032936	Intrusion symptom	biolink:PhenotypicFeature	hp			Re-experiencing symptom	http://purl.obolibrary.org/obo/HP_0032936	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032937	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032938	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032939	Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).
HP:0032940	Dissociative reaction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032940	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032941	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032942	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032943	A deviation of urine pH from the normal range of 4.5 to 7.8.
HP:0032944	Alkaline urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032944	Urine pH of 8 or higher.
HP:0032945	Renal interstitial inflammation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032945	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032946	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032947	Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.
HP:0032948	Renal interstitial fibrosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032948	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032949	The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.
HP:0032950	Abnormal renal tubular lumen morphology	biolink:PhenotypicFeature	hp			Abnormal renal tubular luminal morphology	http://purl.obolibrary.org/obo/HP_0032950	Abnormal structure or form of the lumen (opening) of kidney tubules.
HP:0032951	Renal tubular viral cytopathic changes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032951	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	biolink:PhenotypicFeature	hp			Common-type renal tubular atrophy	http://purl.obolibrary.org/obo/HP_0032952	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032953	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032954	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032955	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032956	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	biolink:PhenotypicFeature	hp			Acanthocyturia	http://purl.obolibrary.org/obo/HP_0032957	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032958	The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.
HP:0032959	Intratubular calcium oxalate casts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032959	Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.
HP:0032960	Intratubular calcium phosphate casts	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032960	Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.
HP:0032961	Magnesium ammonium phosphate crystalluria	biolink:PhenotypicFeature	hp			Struvite urinary crystals	http://purl.obolibrary.org/obo/HP_0032961	Magnesium ammonium phosphate crystals in the urine.
HP:0032962	Tubular microcystic change	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032962	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032963	A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.
HP:0032964	Uric acid crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032964	The presence of uric acid crystals in the urine.
HP:0032965	Interstitial emphysema	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032965	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	biolink:PhenotypicFeature	hp			Centriacinar emphysema	http://purl.obolibrary.org/obo/HP_0032966	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032967	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032968	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032969	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032970	
HP:0032971	Computed tomographic halo sign	biolink:PhenotypicFeature	hp			CT halo sign	http://purl.obolibrary.org/obo/HP_0032971	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032972	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032973	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	biolink:PhenotypicFeature	hp			Abnormal cell differential of broncho-alveolar fluid	http://purl.obolibrary.org/obo/HP_0032974	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	biolink:PhenotypicFeature	hp			Abnormal biochemical composition of broncho-alveolar fluid|Abnormal level of proteins in the broncho-alveolar fluid	http://purl.obolibrary.org/obo/HP_0032975	Any deviation from the normal concentration of protein in the bronchoalveolar fluid.
HP:0032976	Elevated bronchoalveolar lavage fluid lymphocyte proportion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032976	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	biolink:PhenotypicFeature	hp			Elevated level of neutrophils in broncho-alveolar lavage fluid	http://purl.obolibrary.org/obo/HP_0032977	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032978	Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.
HP:0032979	Hemosiderin-laden macrophages in bronchoalveolar fluid	biolink:PhenotypicFeature	hp			Accumulation of hemosiderin laden alveolar macrophages|Siderophages in bronchoalveolar fluid	http://purl.obolibrary.org/obo/HP_0032979	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032980	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032981	Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.
HP:0032982	obsolete Intraalveolar phospholipid accumulation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032982	
HP:0032983	Atoll sign	biolink:PhenotypicFeature	hp			Reversed halo sign	http://purl.obolibrary.org/obo/HP_0032983	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032984	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032985	Accumulation of inhaled, nondigestable particles in macrophages.
HP:0032986	Smoker-inclusions in alveolar macrophages	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032986	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032987	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	biolink:PhenotypicFeature	hp			Head lag|Headlag	http://purl.obolibrary.org/obo/HP_0032988	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032989	Delayed ahcievement of the ability to roll front to back and back to front.
HP:0032990	Localized pulmonary hemorrhage	biolink:PhenotypicFeature	hp			Localised pulmonary haemorrhage	http://purl.obolibrary.org/obo/HP_0032990	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032991	An abnormal form or number of the pulmonary fissures.
HP:0032992	Abnormal pulmonary fissure architecture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032992	An abnormal form or location of a pulmonary fissure.
HP:0032993	Abnormal pulmonary fissure count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032993	A deviation from the normal number of pulmonary fissures.
HP:0032994	Supernumerary pulmonary fissure	biolink:PhenotypicFeature	hp			increased pulmonary fissure count	http://purl.obolibrary.org/obo/HP_0032994	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	biolink:PhenotypicFeature	hp			Reduced pulmonary fissure count	http://purl.obolibrary.org/obo/HP_0032995	Lack of one or more of the normal pulmonary fissures.
HP:0032996	Abnormal cystatin C level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032996	Any deviation from the normal concentration of cystatin C in serum or plasma.
HP:0032997	Decreased cystatin C level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032997	A decreased concentration of cystatin C in the blood circulation.
HP:0032998	Increased cystatin C level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0032998	A elevated concentration of cystatin C in the blood circulation.
HP:0032999	Increased fecal porphyrin	biolink:PhenotypicFeature	hp			Increased faecal porphyrin	http://purl.obolibrary.org/obo/HP_0032999	Abnormally high concentration of fecal porphyrins in feces.
HP:0033000	Subglottic laryngitis	biolink:PhenotypicFeature	hp			Croup|Laryngitis|Pseudocroup|Spasmodic croup|Subglottic laryngitis|Viral croup	http://purl.obolibrary.org/obo/HP_0033000	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	biolink:PhenotypicFeature	hp			Laryngeal papillomas|Laryngeal papillomatosis	http://purl.obolibrary.org/obo/HP_0033001	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033002	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033003	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033004	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033005	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033006	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033007	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	biolink:PhenotypicFeature	hp			Increased Z-disk width|Widened z-discs	http://purl.obolibrary.org/obo/HP_0033008	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	biolink:PhenotypicFeature	hp			Increased faecal coproporphyrin 1|Elevated fecal coproporphyrin 1|Elevated stool coproporphyrin 1|High fecal coproporphyrin 1|High stool coproporphyrin 1	http://purl.obolibrary.org/obo/HP_0033009	Abnormally high concentration of coproporphyrin 3 in feces.
HP:0033010	Increased fecal coproporphyrin 3	biolink:PhenotypicFeature	hp			Increased faecal coproporphyrin 3|Elevated fecal coproporphyrin 3|Elevated stool coproporphyrin 3|High fecal coproporphyrin 3|High stool coproporphyrin 3	http://purl.obolibrary.org/obo/HP_0033010	Abnormally high concentration of coproporphyrin 3 in feces
HP:0033011	Platystencephaly	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033011	Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.
HP:0033012	Abnormal salivary metabolite concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033012	Any deviation from the normal concentration of a metabolite in saliva.
HP:0033013	Abnormal salivary cortisol level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033013	Any deviation from the normal concentration of cortisol in saliva.
HP:0033014	Decreased salivary cortisol level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033014	Abnormally reduced concentration of cortisol in saliva.
HP:0033015	Increased salivary cortisol level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033015	Abnormally elevated concentration of cortisol in saliva.
HP:0033016	Chronic decreased circulating IgD	biolink:PhenotypicFeature	hp			Chronic decreased IgM in blood	http://purl.obolibrary.org/obo/HP_0033016	A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.
HP:0033017	Transient decreased circulating IgD	biolink:PhenotypicFeature	hp			Transient decreaseed IgD in blood	http://purl.obolibrary.org/obo/HP_0033017	A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.
HP:0033018	Chronic absent circulating IgD	biolink:PhenotypicFeature	hp			Chronic (near) absent IgM in blood	http://purl.obolibrary.org/obo/HP_0033018	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	biolink:PhenotypicFeature	hp	NCIT:C3054			http://purl.obolibrary.org/obo/HP_0033019	A neoplasm that affects the male reproductive system.
HP:0033020	Female reproductive system neoplasm	biolink:PhenotypicFeature	hp	NCIT:C3053			http://purl.obolibrary.org/obo/HP_0033020	A neoplasm that affects the female reproductive system.
HP:0033021	Transient decreased circulating IgE	biolink:PhenotypicFeature	hp			Transient decreased IgE in blood	http://purl.obolibrary.org/obo/HP_0033021	A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.
HP:0033022	Chronic decreased circulating IgE	biolink:PhenotypicFeature	hp			Chronic decreased IgE in blood	http://purl.obolibrary.org/obo/HP_0033022	A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.
HP:0033023	Chronic absent circulating IgE	biolink:PhenotypicFeature	hp			Chronic (near) absent IgE in blood	http://purl.obolibrary.org/obo/HP_0033023	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033024	A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.
HP:0033025	Chronic absent circulating total IgG	biolink:PhenotypicFeature	hp			Chronic (near) absent total IgG in blood	http://purl.obolibrary.org/obo/HP_0033025	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033026	A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.
HP:0033027	Retinal peau d'orange	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033027	A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.
HP:0033028	Anti-ribonucleoprotein antibody positivity	biolink:PhenotypicFeature	hp			Anti-RNP-antibodies|Anti-Scl-34 antibody positivity|Anti-U3 ribonucleoprotein antibody positivity	http://purl.obolibrary.org/obo/HP_0033028	The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.  Comment: High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus (SLE).
HP:0033029	Anti-Jo-1 antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033029	The presence of autoantibodies in the serum that react to the histidyl-tRNA-synthetase.
HP:0033030	Anti-glomerular basement membrane-antibody positivity	biolink:PhenotypicFeature	hp			Anti-GBM-antibody positivity	http://purl.obolibrary.org/obo/HP_0033030	The presence of autoantibodies in the serum that react to the glomerular basement membrane.
HP:0033031	Hyperpyrexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033031	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	biolink:PhenotypicFeature	hp			Munchausen syndrome by proxy	http://purl.obolibrary.org/obo/HP_0033032	Applies to a sign or symptom that is induced by an abusive adult (usually a parent).
HP:0033033	Anti-MDA5 antibody positivity	biolink:PhenotypicFeature	hp			Increased level of anti-melanoma differentiation-associated protein 5 antibodies	http://purl.obolibrary.org/obo/HP_0033033	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033034	The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.
HP:0033035	Abnormal Schwann cell morphology	biolink:PhenotypicFeature	hp			Abnormal neurilemmal cell morphology|Abnormal neurilemmocyte morphology	http://purl.obolibrary.org/obo/HP_0033035	Abormality 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	biolink:PhenotypicFeature	hp			Low nasal nitric oxide level	http://purl.obolibrary.org/obo/HP_0033036	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	biolink:PhenotypicFeature	hp			Migratory polyarthritis	http://purl.obolibrary.org/obo/HP_0033037	
HP:0033038	Anti-RNA-polymerase-III-autoantibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033038	The presence of autoantibodies in the serum that react to RNA-polymerase III.
HP:0033039	Increased circulating precipitin level	biolink:PhenotypicFeature	hp			Increased level of antigen-precipitating IgG antibodies	http://purl.obolibrary.org/obo/HP_0033039	The presence of high titers of antigen-precipitating IgG in the serum.
HP:0033040	Anti-Sm-autoantibody positivity	biolink:PhenotypicFeature	hp			Anti-Smith autoantibody	http://purl.obolibrary.org/obo/HP_0033040	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	biolink:PhenotypicFeature	hp			Hypercytokinemia	http://purl.obolibrary.org/obo/HP_0033041	Excessive or uncontrolled release of proinflammatory cytokines.
HP:0033042	Abnormal chorion morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033042	Any structural anomaly of the fetal part of the placenta, which is known as the chorion.
HP:0033043	Edematous chorionic villi	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033043	Swelling of the chorionic villi owing to fluid accumulation.
HP:0033044	Motor regression	biolink:PhenotypicFeature	hp			Regression of motor skills	http://purl.obolibrary.org/obo/HP_0033044	Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.
HP:0033045	Bipedal edema	biolink:PhenotypicFeature	hp			Bipedal oedema	http://purl.obolibrary.org/obo/HP_0033045	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	biolink:PhenotypicFeature	hp			Malakoplakia	http://purl.obolibrary.org/obo/HP_0033046	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033047	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	biolink:PhenotypicFeature	hp			Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)	http://purl.obolibrary.org/obo/HP_0033048	Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).
HP:0033049	Globus pallidus hypointensity on susceptibility-weighted imaging	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033049	Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).
HP:0033050	Pharyngalgia	biolink:PhenotypicFeature	hp			Sore throat|Throat pain|Pharyngodynia	http://purl.obolibrary.org/obo/HP_0033050	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033051	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033052	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033053	Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.
HP:0033054	Myoclonic tremor	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033054	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	biolink:PhenotypicFeature	hp			Ineffective planning	http://purl.obolibrary.org/obo/HP_0033055	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	biolink:PhenotypicFeature	hp			Impaired ability to organise	http://purl.obolibrary.org/obo/HP_0033056	Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.
HP:0033057	Decreased serum terminal complement component	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033057	Reduced level 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 serum complement C7	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033058	A reduced level of the complement component C7 in the blood circulation.
HP:0033059	Decreased serum complement C6	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033059	A reduced level of the complement component C6 in the blood circulation.
HP:0033060	Decreased serum complement C5	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033060	A reduced level of the complement component C5 in the blood circulation.
HP:0033061	Increased factor IX activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033061	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033062	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	biolink:PhenotypicFeature	hp			Short sleep	http://purl.obolibrary.org/obo/HP_0033063	A tendency to sleep less hours than usual while feeling well rested.
HP:0033064	Renal interstitial globotriaosylceramide inclusions	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033064	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033065	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	biolink:PhenotypicFeature	hp			Heavy albuminuria	http://purl.obolibrary.org/obo/HP_0033066	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033067	
HP:0033068	Medication crystalluria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033068	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033069	An increased number of IgG4+ plasma cells in the interstitial space of the kidney.
HP:0033070	Impaired self monitoring	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033070	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033071	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033072	Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.
HP:0033073	Urate tophus	biolink:PhenotypicFeature	hp			Urate tophi	http://purl.obolibrary.org/obo/HP_0033073	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	biolink:PhenotypicFeature	hp			Steroid-responsive anaemia|Prednisone-responsive anemia	http://purl.obolibrary.org/obo/HP_0033074	Amelioration of anemia upon treatment with a steroid medication.
HP:0033075	Inappropriately normal thyroid-stimulating hormone level	biolink:PhenotypicFeature	hp			Inappropriately normal TSH	http://purl.obolibrary.org/obo/HP_0033075	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 level	biolink:PhenotypicFeature	hp			Abnormal circulating free thyroxine level	http://purl.obolibrary.org/obo/HP_0033076	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033077	An elevated concentration of free thyroxine (fT4) in the blood circulation.
HP:0033078	Decreased circulating free T4 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033078	A reduced concentration of free thyroxine (fT4) in the blood circulation.
HP:0033079	Aplasia/Hypoplasia of the thyroid gland	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033079	Absence or underdevelopment of the thyroid gland.
HP:0033080	Abnormal TSH response to thyrotrophin-releasing hormone stimulation test	biolink:PhenotypicFeature	hp			Abnormal TSH response to TRH stimulation test	http://purl.obolibrary.org/obo/HP_0033080	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033081	Failure to increase serum TSH levels in response to a TRH stimulation test.
HP:0033082	Reduced TSH response to thyrotrophin-releasing hormone stimulation test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033082	A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.
HP:0033083	Increased circulating farnesol concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033083	An elevated level of farnesol in the blood circulation.
HP:0033084	Abnormal antral follicle count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033084	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033085	A count of antral follicles that is lower than normal for age.
HP:0033086	Increased antral follicle count	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033086	A count of antral follicles that is higher than normal for age.
HP:0033087	Quotidian fever	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033087	Fever that occurs at daily intervals.
HP:0033088	Valinuria	biolink:PhenotypicFeature	hp			Increased valine in urine	http://purl.obolibrary.org/obo/HP_0033088	Urine valine level above the normal range.
HP:0033089	Branched-chain aminoaciduria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033089	An increased level of a branched chain family amino acid in the urine.
HP:0033090	Increased aromatic amino acid level in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033090	An elevated level of an aromatic amino acid in the urine.
HP:0033091	Tyrosinuria	biolink:PhenotypicFeature	hp			Increased tyrosine in urine	http://purl.obolibrary.org/obo/HP_0033091	An abnormally increased level of tyrosine in the urine.
HP:0033092	Increased urine succinate level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033092	An increase in the level of succinate in the urine.
HP:0033093	Increased glutamine family amino acid level in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033093	An elevated level of an glutamine family amino acid in the urine.
HP:0033094	Increased urine glutamate level	biolink:PhenotypicFeature	hp			Increased glutamic acid in urine	http://purl.obolibrary.org/obo/HP_0033094	An increased concentration of glutamate in the urine.
HP:0033095	Increased sulfur amino acid level in urine	biolink:PhenotypicFeature	hp			Increased sulphur amino acid level in urine|An elevated level of a sulfur-containing amino acid in the urine.|Increased sulfur-containing amino acid level in urine	http://purl.obolibrary.org/obo/HP_0033095	
HP:0033096	Increased aspartate family amino acid level in urine	biolink:PhenotypicFeature	hp			An elevated level of an aspartate family amino acid in the urine.	http://purl.obolibrary.org/obo/HP_0033096	
HP:0033097	Increased urine proteinogenic amino acid derivative level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033097	An elevated urine level of a compound that is derived from an amino acid.
HP:0033098	Increased urinary non-proteinogenic amino acid level	biolink:PhenotypicFeature	hp			Elevated urinary non-proteinogenic amino acid level	http://purl.obolibrary.org/obo/HP_0033098	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033099	An increased level of a serine family amino acid in the urine.
HP:0033100	Increased proteinogenic amino acid level in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033100	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033101	An abnormally increased level of aconitic acid in the urine.
HP:0033102	Monkey wrench femoral neck	biolink:PhenotypicFeature	hp			Monkey wrench appearance of femoral neck|Monkey wrench configuration of the proximal femur|Swedish key appearance of femoral neck|Swedish key configuration of the proximal femur	http://purl.obolibrary.org/obo/HP_0033102	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	biolink:PhenotypicFeature	hp			Elevated circulating YKL40 level|Elevated circulating chitinase 3-like 1 level	http://purl.obolibrary.org/obo/HP_0033103	Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.
HP:0033104	Inappropriate absence of fever	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033104	Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.
HP:0033105	Interhypothalamic Adhesion	biolink:PhenotypicFeature	hp			Hypothalamic adhesion	http://purl.obolibrary.org/obo/HP_0033105	An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.
HP:0033106	Elevated D-dimers	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033106	An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.
HP:0033107	Abnormal circulating proteinogenic amino acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033107	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033108	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033109	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	biolink:PhenotypicFeature	hp			Elevated circulating homoalanine concentration	http://purl.obolibrary.org/obo/HP_0033110	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	biolink:PhenotypicFeature	hp			Increased urine 3-hydroxyisovaleric acid level	http://purl.obolibrary.org/obo/HP_0033111	Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.
HP:0033112	Elevated circulating apolipoprotein C-III concentration	biolink:PhenotypicFeature	hp			Elevated APOC3 level|Elevated apolipoprotein C-III level	http://purl.obolibrary.org/obo/HP_0033112	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	biolink:PhenotypicFeature	hp			Triple rhythm	http://purl.obolibrary.org/obo/HP_0033113	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033114	A type of gallop rhytm in which both the third and the fourth sounds are present.
HP:0033115	Elevated circulating tenascin-C level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033115	Abnormally increased concentration of tenascin-C in the blood circulation.
HP:0033116	Duodenal gastric metaplasia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033116	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033117	Inflammation of the lining of the upper small intestine (duodenum).
HP:0033118	Abnormal right ventricular function	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033118	Anomalous physiology (function) of the right ventricle.
HP:0033119	Elevated right ventricular systolic pressure	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033119	Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.
HP:0033120	Nummular eczema	biolink:PhenotypicFeature	hp			Discoid eczema|Nummular dermatitis	http://purl.obolibrary.org/obo/HP_0033120	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	biolink:PhenotypicFeature	hp			Seal-like barking cough	http://purl.obolibrary.org/obo/HP_0033121	A cough with a characteristic sound that has been compared to a seal's bark.
HP:0033122	Absent P wave	biolink:PhenotypicFeature	hp			Absence of P wave on electrocardiography	http://purl.obolibrary.org/obo/HP_0033122	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033123	Abnormally increased level of osteopontin in the blood circulation
HP:0033124	Increased serum sorbitol concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033124	An increased level of sorbitol in the blood circulation.
HP:0033125	Follicular lymphoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033125	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	biolink:PhenotypicFeature	hp			Skin necrosis	http://purl.obolibrary.org/obo/HP_0033126	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033127	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033128	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033129	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033130	Anomalous echogenicity of the kidney on ultrasound examination.
HP:0033131	Renal medullary hyperechogenicity	biolink:PhenotypicFeature	hp			Increased renal medullary echogenicity	http://purl.obolibrary.org/obo/HP_0033131	Increased echogenecity of the medullary region of the kidney.
HP:0033132	Renal cortical hyperechogenicity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033132	Increased echogenecity of the kidney cortex.
HP:0033133	Renal cortical hypoechogeneity	biolink:PhenotypicFeature	hp			Hypoechogenic renal cortex	http://purl.obolibrary.org/obo/HP_0033133	
HP:0033134	Abdominal adhesions	biolink:PhenotypicFeature	hp			Intra-abdominal adhesion	http://purl.obolibrary.org/obo/HP_0033134	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033135	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033136	An inflammed lymph node that is filled with pus.
HP:0033137	Abnormal pulmonary alveolar system morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033137	A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.
HP:0033138	Right atrial thrombus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033138	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033139	Concentration of uracil in the blood is above the normal range.
HP:0033140	Blake's pouch cyst	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033140	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033141	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033142	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033143	Inflammation of the lining of the middle section of the small intestine.
HP:0033144	Abnormal circulating ceruloplasmin concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033144	Any deviation of the concentration of ceruloplasmin in the blood from the normal range.
HP:0033145	Increased circulating ceruloplasmin concentration	biolink:PhenotypicFeature	hp			Elevated concentration of ceruloplasmin in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033145	
HP:0033146	Elevated circulating methylsuccinic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033146	Increased concentration of methylsuccinic acid in the blood circulation.
HP:0033147	Abnormal circulating short-chain fatty-acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033147	Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.
HP:0033148	Increased circulating isovaleric acid concentration	biolink:PhenotypicFeature	hp			Increased circulating isovalerate|Isovalericacidemia	http://purl.obolibrary.org/obo/HP_0033148	Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.
HP:0033149	Intrahepatic bile duct dilatation	biolink:PhenotypicFeature	hp			Dilatation of intrahepatic biliary ducts	http://purl.obolibrary.org/obo/HP_0033149	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033150	An abscess located at the junction of the anal canal and the rectum.
HP:0033151	Abnormal pharynx morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033151	A structural anomaly of the pharynx.
HP:0033152	Abnormal pharynx physiology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033152	A functional anomaly of the pharynx.
HP:0033153	Elevated circulating dodecenoylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated plasma dodecenoylcarnitine concentration	http://purl.obolibrary.org/obo/HP_0033153	An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.
HP:0033154	Elevated circulating deoxypyridinoline concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033154	An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the bloood circulation.
HP:0033155	Elevated circulating L-alloisoleucine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033155	Abnormally increased concentration of L-alloisoleucine in the blood circulation.
HP:0033156	Elevated urine L-alloisoleucine level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033156	Abnormally increased level of L-alloisoleucine in the urine.
HP:0033157	Elevated circulating 3-methylhistidine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033157	Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.
HP:0033158	Reduced respiratory ciliary beating frequency	biolink:PhenotypicFeature	hp			Dminished respiratory ciliary beat frequency	http://purl.obolibrary.org/obo/HP_0033158	An abnormal reduction in the number of beats per unit time of the respiratory cilia.
HP:0033159	Reduced urinary inosine level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033159	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033160	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033161	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033162	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033163	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033164	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033165	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033166	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033167	A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.
HP:0033168	Reduced mevalonate kinase activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033168	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	biolink:PhenotypicFeature	hp			Reduced TLC|Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.	http://purl.obolibrary.org/obo/HP_0033169	
HP:0033170	Abnormal skinfold thickness measurement	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033170	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033171	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033172	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033173	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033174	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	biolink:PhenotypicFeature	hp			Elevated circulating L-pyroglutamic acid concentration	http://purl.obolibrary.org/obo/HP_0033175	Concentration of L-pyroglutamic acid in the blood is above the normal range.
HP:0033176	Submandibular lymph node enlargement	biolink:PhenotypicFeature	hp			Submandibular lymphadenopathy	http://purl.obolibrary.org/obo/HP_0033176	Increased size of the lymph nodes that are located beneath the mandible (lower jaw).
HP:0033177	Elevated circulating suberic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033177	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	biolink:PhenotypicFeature	hp			Increased serum IL-8|Increased serum interleukin 8|Increased serum interleukin-8	http://purl.obolibrary.org/obo/HP_0033178	An increased concentration of interleukin-8 in the circulation.
HP:0033179	Elevated circulating aconitic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033179	An increased concentration of aconitic acid in the blood circulation.
HP:0033180	Torsion of appendix of testis	biolink:PhenotypicFeature	hp			Twisted vestigial remnant of the Muellerian duct	http://purl.obolibrary.org/obo/HP_0033180	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	biolink:PhenotypicFeature	hp			A severe pyogenic infection of the epidural space.	http://purl.obolibrary.org/obo/HP_0033181	
HP:0033182	Increased circulating cathepsin D level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033182	An increase in concentration of cathepsin D in the blood circulation.
HP:0033183	Bilobed right lung	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033183	A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.
HP:0033184	Triggered by infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033184	
HP:0033185	Triggered by EBV infection	biolink:PhenotypicFeature	hp			Triggered by Epstein Barr virus infection	http://purl.obolibrary.org/obo/HP_0033185	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033186	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	biolink:PhenotypicFeature	hp			Imidodipeptiduria	http://purl.obolibrary.org/obo/HP_0033187	Elevated levels of proline-containing dipeptides in urine.
HP:0033188	Cystic acne	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033188	A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.
HP:0033189	Radiculomegaly	biolink:PhenotypicFeature	hp			Long dental root|Root gigantism	http://purl.obolibrary.org/obo/HP_0033189	Elongated tooth root.
HP:0033190	Hypertrichotic hyperpigmented patch	biolink:PhenotypicFeature	hp			Cutaneous hyperpigmentation with overlying hypertrichosis	http://purl.obolibrary.org/obo/HP_0033190	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033191	An increased concentration of selenium in the blood circulation.
HP:0033192	Decreased circulating selenium concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033192	An abnormally reduced concentration of selenium in the blood circulation.
HP:0033193	Ballooning hepatocyte degeneration	biolink:PhenotypicFeature	hp			Ballooning degeneration of hepatocytes	http://purl.obolibrary.org/obo/HP_0033193	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033194	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033195	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	biolink:PhenotypicFeature	hp			Hepatic portal inflammation	http://purl.obolibrary.org/obo/HP_0033196	Infiltration of portal fields by inflammatory cells.
HP:0033197	Hepatic lobular inflammation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033197	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033198	Applies to a sign or symptom that is provoked or brought about by infection by a virus.
HP:0033199	Increased circulating interleukin 10	biolink:PhenotypicFeature	hp			Increased serum interleukin 10	http://purl.obolibrary.org/obo/HP_0033199	An elevation of the concentration of interleukin 10 in the blood circulation.
HP:0033200	Triceps hyporeflexia	biolink:PhenotypicFeature	hp			Hyporeflexia of triceps	http://purl.obolibrary.org/obo/HP_0033200	Reduced intensity of the triceps tendon reflex.
HP:0033201	Biceps hyporeflexia	biolink:PhenotypicFeature	hp			Hyporeflexia of biceps	http://purl.obolibrary.org/obo/HP_0033201	Reduced intensity of the biceps tendon reflex.
HP:0033202	Brachioradialis hyporeflexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033202	Reduced intensity of the brachioradialis tendon reflex.
HP:0033203	Brachioradialis hyperreflexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033203	Increased intensity of the brachioradialis reflex.
HP:0033204	Triceps hyperreflexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033204	Increased intensity of the triceps reflex.
HP:0033205	Biceps hyperreflexia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033205	Increased intensity of the biceps reflex.
HP:0033206	Hyperactive Achilles reflex	biolink:PhenotypicFeature	hp			Hyperactive ankle jerk reflex|Hyperactive ankle reflex	http://purl.obolibrary.org/obo/HP_0033206	Increased intensity of the Achilles reflex.
HP:0033207	Increased proportion autoreactive unresponsive CD21-/low B cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033207	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033208	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033209	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033210	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033211	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033212	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	biolink:PhenotypicFeature	hp			Elevated urine octanedioic acid level	http://purl.obolibrary.org/obo/HP_0033213	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033214	Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.
HP:0033215	Obliterative abnormality of the renal glomerulus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033215	
HP:0033216	Glomerular hyalinosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033216	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033217	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033218	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033219	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	biolink:PhenotypicFeature	hp			Elevated urinary 2-ethylhydracylic acid|Elevated urinary 2-methylbutyrylglycine	http://purl.obolibrary.org/obo/HP_0033220	An increased concentration of 2-ethylhydracylic acid in the urine.
HP:0033221	Increased CD4:CD8 ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033221	An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.
HP:0033222	Decreased CD4:CD8 ratio	biolink:PhenotypicFeature	hp			Inverted CD4/CD8 ratio|Inverted CD4:CD8 ratio	http://purl.obolibrary.org/obo/HP_0033222	An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.
HP:0033223	Abnormal glomerular parietal epithelial cell morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033223	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	biolink:PhenotypicFeature	hp			Hyperplasia of the glomerular parietal epithelial cell	http://purl.obolibrary.org/obo/HP_0033224	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	biolink:PhenotypicFeature	hp			Hypertrophy of the glomerular parietal epithelial cell	http://purl.obolibrary.org/obo/HP_0033225	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	biolink:PhenotypicFeature	hp			Capsular hyaline drops within Bowman's capsule	http://purl.obolibrary.org/obo/HP_0033226	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033227	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	biolink:PhenotypicFeature	hp			Areflexia of triceps	http://purl.obolibrary.org/obo/HP_0033228	Inability to elicit triceps tendon reflex.
HP:0033229	Brachioradialis areflexia	biolink:PhenotypicFeature	hp			Areflexia of brachioradialis	http://purl.obolibrary.org/obo/HP_0033229	Inability to elicit brachioradialis tendon reflex.
HP:0033230	Biceps areflexia	biolink:PhenotypicFeature	hp			Areflexia of biceps	http://purl.obolibrary.org/obo/HP_0033230	Inability to elicit biceps tendon reflex.
HP:0033231	Abnormal glomerular mesangial cellularity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033231	Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.
HP:0033232	Abnormal glomerular mesangial matrix morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033232	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033233	Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.
HP:0033234	Mesangial hyaline deposition	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033234	Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.
HP:0033235	Difficulty descending stairs	biolink:PhenotypicFeature	hp			Difficulty walking down stairs	http://purl.obolibrary.org/obo/HP_0033235	Reduced ability to desscend stairs.
HP:0033236	Cognitive fatigue	biolink:PhenotypicFeature	hp			Central fatigue	http://purl.obolibrary.org/obo/HP_0033236	A failure to sustain attention that requires self-motivation to optimize performance.
HP:0033237	Visceral epithelial cell detachment	biolink:PhenotypicFeature	hp			Detachment of visceral epithelial cells|Podocyte detachment	http://purl.obolibrary.org/obo/HP_0033237	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033238	Cytoplasmic projections into the urinary space from the luminal side of the podocyte.
HP:0033239	Visceral epithelial cell capping	biolink:PhenotypicFeature	hp			Podocyte cap	http://purl.obolibrary.org/obo/HP_0033239	Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.
HP:0033240	Elevated RV/TLC ratio	biolink:PhenotypicFeature	hp			Hyperinflation on pulmonary function test|Overinflation on pulmonary function test	http://purl.obolibrary.org/obo/HP_0033240	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033241	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033242	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033243	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033244	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	biolink:PhenotypicFeature	hp			Abnormal alveolar epithelial type II cell morphology|Abnormal pulmonary type II cell morphology|Abnormal type II pneumocyte morphology	http://purl.obolibrary.org/obo/HP_0033245	Any structural abnormality of alveolar type 2 (ATII) cells.
HP:0033246	Type II pneumocyte hypertrophy	biolink:PhenotypicFeature	hp			Hypertrophic alveolar type II cells|Hypertrophic alveolar type II pneumocytes	http://purl.obolibrary.org/obo/HP_0033246	Increase in size of type II pneumocytes.
HP:0033247	Pulmonary amyloidosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033247	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033248	Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.
HP:0033249	Focal substantia nigra T2 hyperintensity	biolink:PhenotypicFeature	hp			Focal substantia nigra T2 hyperintense lesion	http://purl.obolibrary.org/obo/HP_0033249	Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.
HP:0033250	Nailfold capillary tortuosity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033250	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	biolink:PhenotypicFeature	hp			Elevated RV	http://purl.obolibrary.org/obo/HP_0033251	Increase in the amount of air remaining in a person's lungs after ful exhalation.
HP:0033252	Palmar hyperlinearity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033252	Exaggerated skin markings (dermatoglyphics) on the palms of the hand.
HP:0033253	Reduced circulating interferon gamma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033253	A reduction in the concentration of interferon gamma measured in the blood circulation.
HP:0033254	Anorectal stricture	biolink:PhenotypicFeature	hp			Stricture of the anorectum	http://purl.obolibrary.org/obo/HP_0033254	Narrowing of the anorectum associated with inflammation or scar tissue.
HP:0033255	Congenital lobar overinflation	biolink:PhenotypicFeature	hp			Congenital lobar emphysema	http://purl.obolibrary.org/obo/HP_0033255	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033256	Inflammation of the entire colon.
HP:0033257	Delayed ability to walk with support	biolink:PhenotypicFeature	hp			Delayed ability to cruise	http://purl.obolibrary.org/obo/HP_0033257	A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.
HP:0033258	Sudden unexpected death in epilepsy	biolink:PhenotypicFeature	hp			SUDEP	http://purl.obolibrary.org/obo/HP_0033258	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033259	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033260	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033261	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	biolink:PhenotypicFeature	hp			Transphyseal distal humerus fracture	http://purl.obolibrary.org/obo/HP_0033262	A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.
HP:0033263	Absent platelet dense granules	biolink:PhenotypicFeature	hp			Absent platelet dense bodies	http://purl.obolibrary.org/obo/HP_0033263	Lack of platelet dense granules, a type of platelet organelles.
HP:0033264	Enlarged platelet dense granules	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033264	Increased size of platelet dense granules.
HP:0033265	Podocyte myelin figures	biolink:PhenotypicFeature	hp			Podocyte myelin inclusions	http://purl.obolibrary.org/obo/HP_0033265	Lamellated intracytoplasmic lipid inclusions within podocytes.
HP:0033266	Glomerular pseudocrescent	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033266	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033267	Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.
HP:0033268	Deflation of the glomerular tuft	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033268	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	biolink:PhenotypicFeature	hp			Collapse of glomerular capillary walls	http://purl.obolibrary.org/obo/HP_0033269	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	biolink:PhenotypicFeature	hp			Glomerular congestion	http://purl.obolibrary.org/obo/HP_0033270	Global distention of glomerular capillaries with intraluminal intact red blood cells.
HP:0033271	Glomerular capillary microaneurysm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033271	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033272	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033273	Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.
HP:0033274	Glomerular endotheliosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033274	Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.
HP:0033275	Glomerular endothelial tubuloreticular inclusion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033275	Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.
HP:0033276	obsolete Glomerular endocapillary hypercellularity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033276	
HP:0033277	Glomerular fibrinoid necrosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033277	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033278	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033279	An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.
HP:0033280	Paratracheal lymphadenopathy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033280	Enlargement of lymph nodes surrounding the trachea.
HP:0033281	Circulating nucleated red blood cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033281	The presence of nucleated red blood cells in the peripheral blood circulation.
HP:0033282	Abnormal glomerular basement membrane morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033282	Any abnormal sttructure of the glomerular basement membrane.
HP:0033283	Segmentally thickened glomerular basement membrane	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033283	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033284	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033285	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033286	
HP:0033287	Glomerular basement membrane lucencies	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033287	Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.
HP:0033288	Glomerular basement membrane spikes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033288	
HP:0033289	Glomerular basement membrane wrinkling	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033289	Irregular folding of the glomerular basement membrane with an intact lamina densa.
HP:0033290	Glomerular subendothelial widening	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033290	Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.
HP:0033291	Glomerular karyhorrhectic debris	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033291	Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.
HP:0033292	Glomerular fibrin thrombus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033292	An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.
HP:0033293	Glomerular hyaline pseudothrombus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033293	Intracapillary amorphous, eosinophilic material consisting of immune deposits.
HP:0033294	Glomerular lipoprotein thrombus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033294	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033295	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	biolink:PhenotypicFeature	hp			Binucleated podocytes	http://purl.obolibrary.org/obo/HP_0033296	Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.
HP:0033297	Multinucleated visceral epithelial cells	biolink:PhenotypicFeature	hp			Multinucleated podocytes|Podocyte multinucleation	http://purl.obolibrary.org/obo/HP_0033297	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033298	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033299	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033300	Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.
HP:0033301	Elevated circulating 1-methylhistidine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033301	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033302	An abnormally increased concentration of 4-Hydroxyphenylacetic acid in the blood circulation.
HP:0033303	Elevated urinary monocarboxylic acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033303	Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.
HP:0033304	Elevated urine 4-hydroxyphenylacetic acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033304	Increased amount of 4-hydroxyphenylacetic acid in the urine.
HP:0033305	Abnormal circulating fetuin A concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033305	Any deviation from the normal concentration of fetuin A in the blood circulation.
HP:0033306	Decreased circulating fetuin A concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033306	A reduction below normal of fetuin A in the blood circulation.
HP:0033307	Increased circulating fetuin A concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033307	An elevation above normal of fetuin A in the blood circulation.
HP:0033308	Patellar overgrowth	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033308	Excessive growth of the kneecap (patella).
HP:0033309	Ileoileal intussusception	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033309	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033310	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033311	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033312	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	biolink:PhenotypicFeature	hp			Collagenization of the urinary space	http://purl.obolibrary.org/obo/HP_0033313	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	biolink:PhenotypicFeature	hp			Hyperplasia of visceral epithelial cells|Podocyte hyperplasia	http://purl.obolibrary.org/obo/HP_0033314	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033315	Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.
HP:0033316	Glomerular crescent formation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033316	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033317	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033318	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033319	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033320	Loss of mesangial cells segmentally or globally.
HP:0033321	Glomerular obsolescence	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033321	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033322	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033323	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033324	Increased concentration of homovanillic acid in the blood circulation.
HP:0033325	Elevated circulating sebacic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033325	Increased concentration of sebacic acid in the blood circulation.
HP:0033326	Elevated circulating hydroxyphenlyllactic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033326	An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.
HP:0033327	Nail psoriasis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033327	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033328	Enlargement 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:0033329	Abnormal postural reflex	biolink:PhenotypicFeature	hp			Abnormal postural reaction	http://purl.obolibrary.org/obo/HP_0033329	Anomaly of the physiological response to maintain the body's posture when movement and position is altered.
HP:0033330	Impaired neck-righting reflex	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033330	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033331	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033332	An increased concentration of serum amyloid A in the blood circulation.
HP:0033333	Jaw contracture	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033333	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033334	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033335	An anomaly in the development of the embryo in a stage prior to implantation.
HP:0033336	Zygotic cleavage failure	biolink:PhenotypicFeature	hp			Failure of zygotic cell division	http://purl.obolibrary.org/obo/HP_0033336	Failure of a fertilized oocyte to undergo the first round of cell division.
HP:0033337	Abnormal gametogenesis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033337	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033338	Anomalous oocyte meiosis
HP:0033339	Increased circulating inosine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033339	An increased concentration of inosine in the blood circulation.
HP:0033340	Increased circulating guanosine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033340	Increased concentration of guanosine in the blood circulation.
HP:0033341	Elevated circulating sitosterol concentration	biolink:PhenotypicFeature	hp			Elevated circulating beta-sitosterol concentration	http://purl.obolibrary.org/obo/HP_0033341	An increased concentration of beta-sitosterol in the blood circulation.
HP:0033342	Anti-aquaporin 4 antibody positivity	biolink:PhenotypicFeature	hp			Anti-AQP4 antibody positivity	http://purl.obolibrary.org/obo/HP_0033342	The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.
HP:0033343	Mucoid diarrhea	biolink:PhenotypicFeature	hp			Mucous diarrhea	http://purl.obolibrary.org/obo/HP_0033343	Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.
HP:0033344	Pleural cobblestoning	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033344	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033345	Pain (An unpleasant sensory and emotional experience) along the course of a nerve.
HP:0033346	Psychic epileptic aura	biolink:PhenotypicFeature	hp			Psychic aura	http://purl.obolibrary.org/obo/HP_0033346	Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.
HP:0033347	Cognitive epileptic aura	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033347	A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.
HP:0033348	Epileptic aura	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033348	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	biolink:PhenotypicFeature	hp			Acute repetitive seizures|Crescendo seizures|Cyclical seizures|Recurrent seizures|Seizure flurries|Serial seizures	http://purl.obolibrary.org/obo/HP_0033349	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	biolink:PhenotypicFeature	hp			Elevated FEV1	http://purl.obolibrary.org/obo/HP_0033350	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	biolink:PhenotypicFeature	hp			Esophageal candidiasis	http://purl.obolibrary.org/obo/HP_0033351	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	biolink:PhenotypicFeature	hp			Pulmonary arterial hypertension crisis	http://purl.obolibrary.org/obo/HP_0033352	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033353	Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).
HP:0033354	Abnormal urine metabolite level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033354	Any deviation from the normal concentration of a metabolite in urine.
HP:0033355	Increased urine deoxypyridinoline level	biolink:PhenotypicFeature	hp			Elevated urinary DPD	http://purl.obolibrary.org/obo/HP_0033355	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033356	An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.
HP:0033357	Limited head rotation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033357	Reduced range of motion turning the head side to side.
HP:0033358	Abnormal urine osmolality	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033358	A deviation from the normal range of concentration of particles in urine.
HP:0033359	Hyperosthenuria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033359	An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.
HP:0033360	Impaired ability to shift attention	biolink:PhenotypicFeature	hp			Impaired task shifting	http://purl.obolibrary.org/obo/HP_0033360	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033361	An open sore of the nasal mucosa.
HP:0033362	Recurrent coughing spasms	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033362	Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.
HP:0033363	Hyaline membranes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033363	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033364	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033365	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033366	A type of lipoid pneumonia in which the source of the lipids is external to the body.
HP:0033367	Orthodeoxia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033367	Low level of blood oxygen induced by changing from a recumbent to an upright position.
HP:0033368	Platypnea	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033368	A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.
HP:0033369	Cavitating leukodystrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033369	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	biolink:PhenotypicFeature	hp			Endobronchial telangiectasia	http://purl.obolibrary.org/obo/HP_0033370	Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.
HP:0033371	Bronchocentric granulomatosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033371	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033372	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033373	Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).
HP:0033374	Decreased KCO	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033374	Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).
HP:0033375	Anthracosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033375	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033376	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033377	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033378	Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.
HP:0033379	Bilateral superior vena cava	biolink:PhenotypicFeature	hp			Bilateral SVC	http://purl.obolibrary.org/obo/HP_0033379	The presence of a left and a right superior vena cava.
HP:0033380	Nasal chondritis	biolink:PhenotypicFeature	hp			Nose chondritis	http://purl.obolibrary.org/obo/HP_0033380	Inflammation of the cartilage of the nose.
HP:0033381	Elevated circulating stearoylcarnitine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033381	Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.
HP:0033382	Elevated circulating palmitoylcarnitine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033382	Abnormally increased concentration of palmitoylcarnitine in the blood circulation.
HP:0033383	Decreased compound muscle action potential amplitude	biolink:PhenotypicFeature	hp			Decreased CMAP amplitude	http://purl.obolibrary.org/obo/HP_0033383	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033384	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	biolink:PhenotypicFeature	hp			Elevated urine hydroxylysyl-pyridinoline level	http://purl.obolibrary.org/obo/HP_0033385	An increased amount of pyridinoline in the urine.
HP:0033386	Abnormal circulating collagen degradation product concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033386	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033387	An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.
HP:0033388	Abnormal bronchial artery morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033388	Any structural abnormality of a bronchial artery.
HP:0033389	Bronchopulmonary anastomosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033389	Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.
HP:0033390	Bronchial artery dilatation	biolink:PhenotypicFeature	hp			Bronchial artery enlargement|Dilatation of a bronchial artery	http://purl.obolibrary.org/obo/HP_0033390	Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.
HP:0033391	Bronchial artery hypertrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033391	Increase in the volume of bronchial artery wall due to the enlargement of its component cells.
HP:0033392	Perivascular pre-capillary pulmonary artery inflammation	biolink:PhenotypicFeature	hp			Perivascular inflammation of arterioles in the pulmonary circulation|Perivascular inflammation of pre-capillary pulmonary arteries	http://purl.obolibrary.org/obo/HP_0033392	Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).
HP:0033393	Irregularly shaped sperm tail	biolink:PhenotypicFeature	hp			Sperm flagella with irregular caliber	http://purl.obolibrary.org/obo/HP_0033393	Irregular or changing caliber (diameter) along the tail of the sperm.
HP:0033394	Anti-carbonic anhydrase II antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033394	The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.
HP:0033395	Antilactoferrin antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033395	The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.
HP:0033396	Glomerular extracapillary fibrin	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033396	Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.
HP:0033397	Bowman-space proteinaceous debris	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033397	The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.
HP:0033398	Pleural plaque	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033398	Deposits of hyalinized collagen fibres in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).
HP:0033399	Persistent fever	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033399	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	biolink:PhenotypicFeature	hp			Acute abdominal pain	http://purl.obolibrary.org/obo/HP_0033400	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033401	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033402	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033403	Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain and swelling of the affected testis.
HP:0033404	Intestinal ischemia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033404	Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the digit. 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033405	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033406	An increased concentration of o-phosphoethanolamine in the blood circulation.
HP:0033407	Elevated urine acetoacetic acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033407	Elevated amount of acetoacetic acid in the urine.
HP:0033408	Elevated circulating acetoacetic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033408	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033409	An increased amount of 2-hydroxybutyric acid in the urine.
HP:0033410	Elevated circulating cartilage oligomeric matrix protein concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033410	An increased blood concentration of cartilage oligomeric matrix protein (COMP).
HP:0033411	Lower extremity akinesia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033411	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	biolink:PhenotypicFeature	hp			Akinesia of the upper extremities	http://purl.obolibrary.org/obo/HP_0033412	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	biolink:PhenotypicFeature	hp			Hypokinesia of the upper extremities	http://purl.obolibrary.org/obo/HP_0033413	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	biolink:PhenotypicFeature	hp			Hypokinesia of the lower extremities	http://purl.obolibrary.org/obo/HP_0033414	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033415	The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.
HP:0033416	Hip adductor weakness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033416	Reduced ability to bring the leg toward the midline of the body.
HP:0033417	Elevated circulating hydroxybutyric acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033417	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033418	Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.
HP:0033419	Elevated circulating 3-hydroxybutyric acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033419	Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.
HP:0033420	Pulmonary arterial plexiform lesion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033420	Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.
HP:0033421	Pulmonary artery intimal thickening	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033421	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033422	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033423	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033424	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033425	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	biolink:PhenotypicFeature	hp			Venous air embolism	http://purl.obolibrary.org/obo/HP_0033426	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033427	Focal accumulation of dilated pulmonary capillaries.
HP:0033428	Systemic autoinflammation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033428	Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.
HP:0033429	Neuroinflammation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033429	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033430	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	biolink:PhenotypicFeature	hp			CMV colitis	http://purl.obolibrary.org/obo/HP_0033431	A form of cytomegalovirus infection characterized by infection and inflammation of the colon.
HP:0033432	Opportunistic viral infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033432	
HP:0033433	Ileocecal ulcer	biolink:PhenotypicFeature	hp			Ileo-cecal ulcer	http://purl.obolibrary.org/obo/HP_0033433	An erosion of the mucous membrane in the region connecting the ileum and cecum.
HP:0033434	Nasal septum perforation	biolink:PhenotypicFeature	hp			Nasal-septum perforation|Perforation of the nasal septum	http://purl.obolibrary.org/obo/HP_0033434	A full-thickness defect of the nasal septum.
HP:0033435	Abnormal circulating keto acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033435	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033436	An abnormally increased concentration of 3-methyl-2-oxovaleric acid in the blood circulation.
HP:0033437	Elevated circulating 4-methyl-2-oxopentanoic acid concentration	biolink:PhenotypicFeature	hp			Increased circulating alpha-ketoisocaproic acid concentration	http://purl.obolibrary.org/obo/HP_0033437	Abnormal increase of the concentration of 4-methyl-2-oxopentanoic acid in the blood circulation.
HP:0033438	Elevated circulating myoglobin concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033438	An increased blood concentration of myoglobin.
HP:0033439	Elevated circulating decenoylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating O-decenoylcarnitine concentration|Elevated plasma decenoylcarnitine, C10:1	http://purl.obolibrary.org/obo/HP_0033439	Increased concentration of decenoylcarnitine in the blood circulation.
HP:0033440	Elevated circulating octenoylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating O-octenoylcarnitine concentration|Elevated plasma octenoylcarnitine, C8:1	http://purl.obolibrary.org/obo/HP_0033440	Increased concentration of octenoylcarnitine in the blood circulation.
HP:0033441	Elevated circulating hexanoylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating O-hexanoylcarnitine concentration|Elevated plasma hexanoylcarnitine, C6:0	http://purl.obolibrary.org/obo/HP_0033441	Increased concentration of hexanoylcarnitine in the blood circulation.
HP:0033442	Elevated circulating glutarylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating O-glutarylcarnitine concentration|Elevated plasma glutarylcarnitine, C5-DC	http://purl.obolibrary.org/obo/HP_0033442	Increased concentration of glutarylcarnitine in the blood circulation.
HP:0033443	Elevated circulating propionylcarnitine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033443	Increased concentration of propionylcarnitine in the blood circulation.
HP:0033444	Elevated circulating dodecanoylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating O-dodecanoylcarnitine concentration|Elevated plasma dodecanoylcarnitine, C12:0	http://purl.obolibrary.org/obo/HP_0033444	Increased concentration of dodecanoylcarnitine in the blood circulation.
HP:0033445	Reduced circulating acylcarnitine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033445	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	biolink:PhenotypicFeature	hp			Elevated circulating O-butyrylcarnitine concentration	http://purl.obolibrary.org/obo/HP_0033446	Increased concentration of O-butyrylcarnitine in the blood circulation.
HP:0033447	Elevated circulating isovalerylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating O-isovalerylcarnitine concentration	http://purl.obolibrary.org/obo/HP_0033447	Increased concentration of O-isovalerylcarnitine in the blood circulation.
HP:0033448	Increased mid-arm muscle circumference	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033448	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033449	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033450	Any deviation from normal concentration of albumin in the blood circulation.
HP:0033451	Increased circulating prealbumin concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033451	An elevation above the normal concentration of prealbumin in the blood circulation.
HP:0033452	Decreased circulating prealbumin concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033452	A reduction from the normal concentration of prealbumin in the blood circulation.
HP:0033453	Limited neck extension	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033453	Reduced abilty to move the head back towards the ceiling so that one is looking upwards.
HP:0033454	Tube feeding	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033454	Feeding problem necessitating food and nutrient delivery via a tube.
HP:0033455	Elevated urinary dicarboxylic acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033455	Increased amount of a dicarboxylic acid in the urine.
HP:0033456	Elevated urine keto acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033456	Increased amount of a keta acid in the urine.
HP:0033457	Elevated urine 3-methyl-2-oxovaleric acid level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033457	Increased amount of 3-methyl-2-oxovaleric acid in the urine.
HP:0033458	Elevated urine 4-methyl-2-oxopentanoic acid level	biolink:PhenotypicFeature	hp			Increased urine alpha-ketoisocaproic acid level	http://purl.obolibrary.org/obo/HP_0033458	Increased amount of 4-methyl-2-oxopentanoic acid in the urine.
HP:0033459	Decreased circulating apolipoprotein concentration	biolink:PhenotypicFeature	hp			Decreased apolipoprotein level	http://purl.obolibrary.org/obo/HP_0033459	Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).
HP:0033460	Increased circulating apolipoprotein circulation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033460	Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).
HP:0033461	Elevated circulating 3-hydroxylinoleylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH	http://purl.obolibrary.org/obo/HP_0033461	Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.
HP:0033462	Elevated circulating oleylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated plasma oleylcarnitine, C18:1	http://purl.obolibrary.org/obo/HP_0033462	Increased concentration of oleylcarnitine in the blood circulation.
HP:0033463	obsolete Elevated circulating palmitoleylcarnitine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033463	
HP:0033464	Elevated circulating 3-hydroxypalmitoleylcarnitine concentration	biolink:PhenotypicFeature	hp			Elevated circulating 3-OH-palmitoleylcarnitine concentration|Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH|Increased concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation.	http://purl.obolibrary.org/obo/HP_0033464	
HP:0033465	Elevated circulating tetradecanolycarnitine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033465	Elevated circulating tetradecanoyl concentration.
HP:0033466	Weak grip	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033466	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033467	A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.
HP:0033468	10-minute APGAR score of 0	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033468	
HP:0033469	10-minute APGAR score of 1	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033469	
HP:0033470	10-minute APGAR score of 2	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033470	
HP:0033471	10-minute APGAR score of 3	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033471	
HP:0033472	10-minute APGAR score of 4	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033472	
HP:0033473	10-minute APGAR score of 5	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033473	
HP:0033474	10-minute APGAR score of 6	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033474	
HP:0033475	Limited shoulder abduction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033475	Decreased ability to move the arm away from the midline of the body.
HP:0033476	Extractable nuclear antigen positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033476	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033477	A deviation from the normal concentration of lipoprotein lipase in the blood circulation.
HP:0033478	Increased circulating lipoprotein lipase concentration	biolink:PhenotypicFeature	hp			Elevated lipoprotein lipase level	http://purl.obolibrary.org/obo/HP_0033478	Increased concentration of lipoprotein lipase in the blood circulation.
HP:0033479	Abnormal circulating bilirubin concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033479	
HP:0033480	Hypobilirubinemia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033480	Decreased circulation of bilirubin in the blood circulation.
HP:0033481	Limited lateral neck flexion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033481	Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.
HP:0033482	Limited shoulder flexion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033482	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033483	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	biolink:PhenotypicFeature	hp			Elevated plasma linoleylcarnitine, C18:2	http://purl.obolibrary.org/obo/HP_0033484	Increased concentration of linoleylcarnitine in the blood circulation.
HP:0033485	Glomerular basement membrane disruption	biolink:PhenotypicFeature	hp			Disruption of the glomerular basement membrane|Glomerular basement membrane rupture	http://purl.obolibrary.org/obo/HP_0033485	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033486	Anomalous appearance or structure of the surface of the glomerular basement membrane.
HP:0033487	Glomerular basement membranes powdery deposit	biolink:PhenotypicFeature	hp			Glomerular basement membranes with powdery deposit	http://purl.obolibrary.org/obo/HP_0033487	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	biolink:PhenotypicFeature	hp			Glomerular endocapillary hypercellularity consisting of leukocytes	http://purl.obolibrary.org/obo/HP_0033488	Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.
HP:0033489	Glomerular endocapillary neutrophil hypercellularity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033489	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033490	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033491	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033492	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	biolink:PhenotypicFeature	hp			Increased glomerular mesangial matrix	http://purl.obolibrary.org/obo/HP_0033493	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033494	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033495	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	biolink:PhenotypicFeature	hp			Segmental glomerulosclerosis, perihilar pattern	http://purl.obolibrary.org/obo/HP_0033496	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	biolink:PhenotypicFeature	hp			Segmental glomerulosclerosis, tip variant	http://purl.obolibrary.org/obo/HP_0033497	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033498	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033499	Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.
HP:0033500	Subendothelial glomerular basement membrane electron dense deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033500	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033501	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033502	Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.
HP:0033503	Elevated CSF fumarate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033503	An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.
HP:0033504	Elevated circulating fumarate concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033504	An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.
HP:0033505	Livedo reticularis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033505	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033506	An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.
HP:0033507	Decreased esterified to free carnitine ratio	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033507	A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.
HP:0033508	EBV meningitis	biolink:PhenotypicFeature	hp			Epstein-Barr virus meningitis	http://purl.obolibrary.org/obo/HP_0033508	Inflammation of the meninges related to infection by Epstein-Barr virus.
HP:0033509	EBV encephalitis	biolink:PhenotypicFeature	hp			Epstein-Barr virus encephalitis	http://purl.obolibrary.org/obo/HP_0033509	Inflamation of the brain related to infection by Epstein-Barr virus.
HP:0033510	Cutaneous horn	biolink:PhenotypicFeature	hp			Cornu cutaneum	http://purl.obolibrary.org/obo/HP_0033510	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033511	Chronic compulsive drug seeking and continued use despite harmful consequences.
HP:0033512	Stimulant addiction	biolink:PhenotypicFeature	hp			Stimulant dependence	http://purl.obolibrary.org/obo/HP_0033512	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	biolink:PhenotypicFeature	hp			Cocaine dependence	http://purl.obolibrary.org/obo/HP_0033513	Addiction to cocaine.
HP:0033514	Amphetamine addiction	biolink:PhenotypicFeature	hp			Amphetamine dependence|Dextroamphetamine addiction|Dextroamphetamine dependence	http://purl.obolibrary.org/obo/HP_0033514	Addiction to amphetamine or dextroamphetamine.
HP:0033515	Opioid addiction	biolink:PhenotypicFeature	hp			Opioid dependence	http://purl.obolibrary.org/obo/HP_0033515	Addiction to opioids.
HP:0033516	Benzodiazepine addiction	biolink:PhenotypicFeature	hp			Benzodiazepine dependence	http://purl.obolibrary.org/obo/HP_0033516	Addiction to a benzodiazepine.
HP:0033517	Heroid addiction	biolink:PhenotypicFeature	hp			Heroin dependence	http://purl.obolibrary.org/obo/HP_0033517	Addiction to heroin.
HP:0033518	Methylphenidate addiction	biolink:PhenotypicFeature	hp			Methylphenidate dependence	http://purl.obolibrary.org/obo/HP_0033518	Addiction to methylphenidate.
HP:0033519	Methamphetamine addiction	biolink:PhenotypicFeature	hp			Methamphetamine dependence	http://purl.obolibrary.org/obo/HP_0033519	Addiction to methamphetamine.
HP:0033520	Paradoxical embolism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033520	Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation. Comment: Paradoxical embolism occurs most commonly through an intracardiac defect at the atrial level, but can also be due to another type of right-to-left-shunt, as for example in pulmonary arteriovenous malformations. Paradoxical embolism may lead to serious complications as ischemic stroke.
HP:0033521	Nasal dryness	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033521	A lack of humidification of the nasal mucosa.
HP:0033522	Cerebral cavernous malformation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033522	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033523	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033524	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	biolink:PhenotypicFeature	hp			Absent central pair complex (9+0 pattern)	http://purl.obolibrary.org/obo/HP_0033525	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033526	Reduced ability to move the foot up toward the shin.
HP:0033527	Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio	biolink:PhenotypicFeature	hp			Decreased plasma testosterone-to-androstenedione ratio	http://purl.obolibrary.org/obo/HP_0033527	A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).
HP:0033528	Abnormal cardiac output	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033528	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033529	Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.
HP:0033530	Increased cardiac index	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033530	An elevated cardiac index, defined as cardiac output divided by body surface area.
HP:0033531	Decreased cardiac index	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033531	A reduced cardiac index, defined as cardiac output divided by body surface area.
HP:0033532	Decreased cardiac output	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033532	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033533	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	biolink:PhenotypicFeature	hp			Elevated circulating BNP concentration|Increased B-type natriuretic peptide|Increased ventricular natriuretic peptide	http://purl.obolibrary.org/obo/HP_0033534	An increased concentration of brain natriuretic peptide in the blood circulation.
HP:0033535	Reduced platelet dense granules	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033535	Decreased number of platelet dense granules, a type of platelet organelle.
HP:0033536	Reduced platelet alpha granules	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033536	A reduced number of platelet alpha granules.
HP:0033537	Mosaic pulmonary attenuation pattern	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033537	Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.
HP:0033538	Aortic annulus calcification	biolink:PhenotypicFeature	hp			Aortic annular calcification	http://purl.obolibrary.org/obo/HP_0033538	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033539	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	biolink:PhenotypicFeature	hp			Reversible pulmonary obstruction	http://purl.obolibrary.org/obo/HP_0033540	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	biolink:PhenotypicFeature	hp			Irreversible pulmonary obstruction	http://purl.obolibrary.org/obo/HP_0033541	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	biolink:PhenotypicFeature	hp			Peribronchial cuffing|Peribronchial thickening	http://purl.obolibrary.org/obo/HP_0033542	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	biolink:PhenotypicFeature	hp			Nicotine dependence	http://purl.obolibrary.org/obo/HP_0033543	Nicotine addition can be defined as chronic compulsive nicotine seeking and continued use despite harmful consequences.
HP:0033544	Mesangial fibril deposition	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033544	Extracellular mesangial accumulation of slender proteinaceous fibers.
HP:0033545	Mesangial fibrillary deposits	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033545	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033546	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033547	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033548	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033549	Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.
HP:0033550	Necrotizing pulmonary granulomatosis	biolink:PhenotypicFeature	hp			Caseating pulmonary granulomatosis	http://purl.obolibrary.org/obo/HP_0033550	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	biolink:PhenotypicFeature	hp			A granuloma located in the lung that is not associated with necrotic changes.|Non-caseating pulmonary granulomatosis	http://purl.obolibrary.org/obo/HP_0033551	
HP:0033552	Chronic villitis	biolink:PhenotypicFeature	hp			Chronic villitis (non-infectious)|Nonspecific chronic villitis|Villitis of unknown etiology	http://purl.obolibrary.org/obo/HP_0033552	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	biolink:PhenotypicFeature	hp			Septic emboli	http://purl.obolibrary.org/obo/HP_0033553	Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.
HP:0033554	Anti-Mi2 antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033554	The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.
HP:0033555	Anti-Ro/SS-A antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033555	The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.
HP:0033556	Anti-nucleoporin 62 antibody positivity	biolink:PhenotypicFeature	hp			Anti-p62 antibody positivity	http://purl.obolibrary.org/obo/HP_0033556	The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.
HP:0033557	Anti-proteinase 3 antibody positivity	biolink:PhenotypicFeature	hp			Anti-PR3 antibody positivity	http://purl.obolibrary.org/obo/HP_0033557	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033558	The presence of autoantibodies in the blood circulation that react against histone antigens.
HP:0033559	Anti-myeloperoxidase antibody positivity	biolink:PhenotypicFeature	hp			Anti-MPO antibody positivity	http://purl.obolibrary.org/obo/HP_0033559	The presence of autoantibodies in the blood circulation that react against myeloperoxidase.
HP:0033560	Anti-PM-Scl antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033560	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	biolink:PhenotypicFeature	hp			Anti-BPI antibody positivity	http://purl.obolibrary.org/obo/HP_0033561	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	biolink:PhenotypicFeature	hp			Anti-gp210 antibody positivity	http://purl.obolibrary.org/obo/HP_0033562	The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.
HP:0033563	Anti-tissue transglutaminase antibody positivity	biolink:PhenotypicFeature	hp			Anti-tTG antibody positivity	http://purl.obolibrary.org/obo/HP_0033563	The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.
HP:0033564	Stasis dermatitis	biolink:PhenotypicFeature	hp			Varicose eczema|Venous eczema	http://purl.obolibrary.org/obo/HP_0033564	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	biolink:PhenotypicFeature	hp			Anti-eTG antibody positivity	http://purl.obolibrary.org/obo/HP_0033565	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.
HP:0033566	Abnormal ventricular axis	biolink:PhenotypicFeature	hp			Abnormal QRS axis	http://purl.obolibrary.org/obo/HP_0033566	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	biolink:PhenotypicFeature	hp			RAD|Electrical right axis deviation	http://purl.obolibrary.org/obo/HP_0033567	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	biolink:PhenotypicFeature	hp			Electrical left axis deviation	http://purl.obolibrary.org/obo/HP_0033568	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033569	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033570	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033571	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033572	The presence of autoantibodies in the blood circulation that react against histone H1.
HP:0033573	Anti-H4 antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033573	The presence of autoantibodies in the blood circulation that react against histone H4.
HP:0033574	Anti-H3 antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033574	The presence of autoantibodies in the blood circulation that react against histone H3.
HP:0033575	Anti-H2A antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033575	The presence of autoantibodies in the blood circulation that react against histone H2A.
HP:0033576	Anti-H2B antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033576	The presence of autoantibodies in the blood circulation that react against histone H2B.
HP:0033577	In situ pulmonary artery thrombosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033577	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	biolink:PhenotypicFeature	hp			Precapillary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0033578	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	biolink:PhenotypicFeature	hp			Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge	http://purl.obolibrary.org/obo/HP_0033579	Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.
HP:0033580	Compound motor action potential abnormality	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033580	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033581	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033582	Abnormal accumulation of lymphocytes in the interstitium of the lung.
HP:0033583	Follicular bronchiolitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033583	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	biolink:PhenotypicFeature	hp			NSIP|Nonspecific interstitial pneumonitis|Temporally uniform pulmonary inflammation	http://purl.obolibrary.org/obo/HP_0033584	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033585	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033586	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033587	A circumscribed area of pus or necrotic debris in the vulvar region.
HP:0033588	Labial adhesion	biolink:PhenotypicFeature	hp			Labial agglutination|Synechia vulvae	http://purl.obolibrary.org/obo/HP_0033588	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033589	Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.
HP:0033590	Inguinal abscess	biolink:PhenotypicFeature	hp			Groin abscess	http://purl.obolibrary.org/obo/HP_0033590	A circumscribed area of pus or necrotic debris in the groin (inguinal region).
HP:0033591	Staghorn calculus	biolink:PhenotypicFeature	hp			Staghorn renal stone	http://purl.obolibrary.org/obo/HP_0033591	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033592	The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.
HP:0033593	Anti-H2A-H2B antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033593	The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.
HP:0033594	Elevated urinary 7-biopterin level	biolink:PhenotypicFeature	hp			Primapterinuria	http://purl.obolibrary.org/obo/HP_0033594	An abnormally increased amount of 7-biopterin in the urine.
HP:0033595	Elevated circulating globotriaosylceramide concentration	biolink:PhenotypicFeature	hp			Elevated circulating ceramidetrihexoside concentration	http://purl.obolibrary.org/obo/HP_0033595	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033596	An abnormally increased amount of 3-methylcrotonylglycine in the urine.
HP:0033597	Decreased mucosal sucrase-isomaltase activity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033597	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033598	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033599	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033600	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033601	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033602	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033603	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033604	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	biolink:PhenotypicFeature	hp			Pustulosis	http://purl.obolibrary.org/obo/HP_0033605	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	biolink:PhenotypicFeature	hp			Hematopoietic maturation arrest	http://purl.obolibrary.org/obo/HP_0033606	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033607	A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.
HP:0033608	Pulmonary nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033608	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033609	A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.
HP:0033610	Subsolid pulmonary nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033610	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033611	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033612	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033613	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033614	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033615	Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.
HP:0033616	Accessory cardiac bronchus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033616	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033617	Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.
HP:0033618	Displaced lobar tracheal bronchus	biolink:PhenotypicFeature	hp			Bronchus suis|Pig bronchus	http://purl.obolibrary.org/obo/HP_0033618	Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.
HP:0033619	Typical perifissural nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033619	A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).
HP:0033620	Atypical perifissural nodule	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033620	A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).
HP:0033621	Bronchial diverticula	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033621	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033622	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033623	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	biolink:PhenotypicFeature	hp			History of congenital cytomegalovirus infection	http://purl.obolibrary.org/obo/HP_0033624	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033625	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	biolink:PhenotypicFeature	hp			Elevated non-HDL cholesterol concentration	http://purl.obolibrary.org/obo/HP_0033626	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033627	Increased amount of harderoporphyrin in the urine.
HP:0033628	Bowel irritability	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033628	Intermittent abdominal pain with diarrhea and/or constipation.
HP:0033629	IgG4 autoimmune antibody positivity	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033629	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	biolink:PhenotypicFeature	hp			Mental clouding|Mental fatigue|Mental fog	http://purl.obolibrary.org/obo/HP_0033630	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033631	Inflammation of the vertebrae (vertebral bodies) or spine.
HP:0033632	Abnormal alveolar volume	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033632	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033633	An abnormal reduction in alveolar volume.
HP:0033634	Increased alveolar volume	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033634	An abnormal elevation in alveolar volume.
HP:0033635	Post-capillary pulmonary hypertension	biolink:PhenotypicFeature	hp			Postcapillary pulmonary hypertension	http://purl.obolibrary.org/obo/HP_0033635	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033636	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033637	The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).
HP:0033638	Intralobular septal thickening	biolink:PhenotypicFeature	hp			Intralobular lines	http://purl.obolibrary.org/obo/HP_0033638	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	biolink:PhenotypicFeature	hp			Septic pulmonary emboli	http://purl.obolibrary.org/obo/HP_0033639	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033640	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	biolink:PhenotypicFeature	hp			Aortic cusp calcification|Aortic valve cusp calcification	http://purl.obolibrary.org/obo/HP_0033641	Deposition of calcium salts in the leaflets (cusps) of the aortic valve.
HP:0033642	Mitral valve leaflet calcification	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033642	Deposition of calcium salts in the leaflets (cusps) of the mitral valve.
HP:0033643	Increased circulating very long-chain fatty acid concentration	biolink:PhenotypicFeature	hp			Increased plasma levels of very long-chain fatty acid	http://purl.obolibrary.org/obo/HP_0033643	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	biolink:PhenotypicFeature	hp			Elevated circulating erythropoietin	http://purl.obolibrary.org/obo/HP_0033644	Increased amount 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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033645	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	biolink:PhenotypicFeature	hp			Agenesis of the hippocampal commissure	http://purl.obolibrary.org/obo/HP_0033646	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033647	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033648	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	biolink:PhenotypicFeature	hp			Distal acinar emphysema	http://purl.obolibrary.org/obo/HP_0033649	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033650	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	biolink:PhenotypicFeature	hp			Lung fungus ball	http://purl.obolibrary.org/obo/HP_0033651	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033652	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033653	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033654	Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.
HP:0033655	Pulmonary cavity	biolink:PhenotypicFeature	hp			Pulmonary cavern	http://purl.obolibrary.org/obo/HP_0033655	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033656	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	biolink:PhenotypicFeature	hp			Discoid atelectasis|Platelike atelectasis	http://purl.obolibrary.org/obo/HP_0033657	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	biolink:PhenotypicFeature	hp			Blesovsky syndrome|Comet tail sign|Folded lung syndrome|Helical atelectasis|Pleural pseudotumor|Pleuroma	http://purl.obolibrary.org/obo/HP_0033658	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:0033659	Crazy-paving pattern	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033659	This 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:0033660	Hand paresthesia	biolink:PhenotypicFeature	hp			Hand numbness|Hand tingling	http://purl.obolibrary.org/obo/HP_0033660	Tingling (often refered to as a pins and needles feeling) and numbness in the hand.
HP:0033661	Air crescent	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033661	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033662	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033663	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	biolink:PhenotypicFeature	hp	NCIT:C3788			http://purl.obolibrary.org/obo/HP_0033664	Gangliogliomas are rare tumours of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumours consisting of both dysplastic neuronal and neoplastic glial cells.
HP:0033665	Diminished health-related quality of life	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033665	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	biolink:PhenotypicFeature	hp			Decline in physical functional health|Diminished physical health	http://purl.obolibrary.org/obo/HP_0033666	A reduction in the ability to perform activities of daily living because of illness of functional deficits as compared to previous abilities. 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	biolink:PhenotypicFeature	hp			Mental impairment|Reduced mental health	http://purl.obolibrary.org/obo/HP_0033667	A reduction in the subjective feeling of mental well being.
HP:0033668	Abnormal amygdala morphology	biolink:PhenotypicFeature	hp			Abnormal morphology of the amygdala	http://purl.obolibrary.org/obo/HP_0033668	A structural anomaly of the amygdala.
HP:0033669	Enlarged amygdala	biolink:PhenotypicFeature	hp			Amygdalar enlargement	http://purl.obolibrary.org/obo/HP_0033669	A increase in the volume (size) of the amygdyla.
HP:0033670	Organizing pneumonia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033670	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033671	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	biolink:PhenotypicFeature	hp			Positive carpal Hoffmann Tinel sign	http://purl.obolibrary.org/obo/HP_0033672	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	biolink:PhenotypicFeature	hp			Phalen maneuver	http://purl.obolibrary.org/obo/HP_0033673	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0033674	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:0040004	Abnormality of corneal shape	biolink:PhenotypicFeature	hp	UMLS:C4022500			http://purl.obolibrary.org/obo/HP_0040004	
HP:0040006	Mortality/Aging	biolink:PhenotypicFeature	hp	UMLS:C4022499			http://purl.obolibrary.org/obo/HP_0040006	
HP:0040007	Absent pigmentation of chest	biolink:PhenotypicFeature	hp	UMLS:C4022498		Lack of skin coloring on chest	http://purl.obolibrary.org/obo/HP_0040007	Lack of skin pigmentation (coloring) of the chest.
HP:0040008	Aplasia of facial bones	biolink:PhenotypicFeature	hp	UMLS:C1385254|UMLS:C4022497|UMLS:C4280300|UMLS:C4280301		Failure of development of facial skeleton|Absence of facial bones|Failure of development of facial bones|Missing facial bones|Agenesis of facial bones|Aplasia of facial skeleton	http://purl.obolibrary.org/obo/HP_0040008	
HP:0040009	Hyperparakeratosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:125554003|UMLS:C1265968			http://purl.obolibrary.org/obo/HP_0040009	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	biolink:PhenotypicFeature	hp	UMLS:C4022496			http://purl.obolibrary.org/obo/HP_0040010	
HP:0040011	Flat posterior fossa	biolink:PhenotypicFeature	hp	UMLS:C4022495			http://purl.obolibrary.org/obo/HP_0040011	
HP:0040012	Chromosome breakage	biolink:PhenotypicFeature	hp	MSH:D019457|UMLS:C0376628		High frequency of chromosome breaks in lymphocytes|Increased chromosomal breakage|Increased chromosomal breakage rate|Multiple chromosomal breaks|Tendency to chromosomal breakage	http://purl.obolibrary.org/obo/HP_0040012	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	biolink:PhenotypicFeature	hp	UMLS:C4022493			http://purl.obolibrary.org/obo/HP_0040013	
HP:0040014	Increased mitochondrial number	biolink:PhenotypicFeature	hp	UMLS:C4022492			http://purl.obolibrary.org/obo/HP_0040014	
HP:0040015	Increased activity of mitochondrial respiratory chain	biolink:PhenotypicFeature	hp	UMLS:C4022491			http://purl.obolibrary.org/obo/HP_0040015	
HP:0040016	Prominent coccyx	biolink:PhenotypicFeature	hp	UMLS:C4022490		Prominent tailbone	http://purl.obolibrary.org/obo/HP_0040016	
HP:0040017	Protruding coccyx	biolink:PhenotypicFeature	hp	UMLS:C4022489		Protruding tailbone	http://purl.obolibrary.org/obo/HP_0040017	
HP:0040018	Clinodactyly of hallux	biolink:PhenotypicFeature	hp	UMLS:C4022488|UMLS:C4280299		Curvature of big toe	http://purl.obolibrary.org/obo/HP_0040018	
HP:0040019	Finger clinodactyly	biolink:PhenotypicFeature	hp	SNOMEDCT_US:17268007|UMLS:C0265610|UMLS:C4280298		Curvature of finger	http://purl.obolibrary.org/obo/HP_0040019	
HP:0040020	Radial deviation of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4022487			http://purl.obolibrary.org/obo/HP_0040020	
HP:0040021	Radial deviation of the thumb	biolink:PhenotypicFeature	hp	UMLS:C2168996			http://purl.obolibrary.org/obo/HP_0040021	
HP:0040022	Clinodactyly of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4022486		Curvature of index finger|Second finger clinodactyly	http://purl.obolibrary.org/obo/HP_0040022	
HP:0040023	Clinodactyly of the thumb	biolink:PhenotypicFeature	hp	UMLS:C1856888|UMLS:C4280297		Curvature of thumb	http://purl.obolibrary.org/obo/HP_0040023	
HP:0040024	Clinodactyly of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4022485|UMLS:C4280296		Curvature of middle finger	http://purl.obolibrary.org/obo/HP_0040024	
HP:0040025	Clinodactyly of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4022484|UMLS:C4280295		Curvature of ring finger	http://purl.obolibrary.org/obo/HP_0040025	
HP:0040030	Chorioretinal hypopigmentation	biolink:PhenotypicFeature	hp	UMLS:C4022483			http://purl.obolibrary.org/obo/HP_0040030	
HP:0040031	Chorioretinal hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4022482			http://purl.obolibrary.org/obo/HP_0040031	
HP:0040032	Hypoplasia of the upper eyelids	biolink:PhenotypicFeature	hp	UMLS:C4022481		Small upper eyelid|Decreased size of upper eyelid|Underdevelopment of upper eyelid|Short upper eyelid|Hypotrophic upper eyelid	http://purl.obolibrary.org/obo/HP_0040032	
HP:0040033	Aplasia/Hypoplasia of the fifth metatarsal bone	biolink:PhenotypicFeature	hp	UMLS:C4022480		Absent/small 5th long bone of foot|Absent/underdeveloped 5th long bone of foot	http://purl.obolibrary.org/obo/HP_0040033	
HP:0040034	Abnormality of the second metatarsal bone	biolink:PhenotypicFeature	hp	UMLS:C4022479		Abnormality of the 2nd long bone of foot	http://purl.obolibrary.org/obo/HP_0040034	
HP:0040035	Abnormality of the fourth metatarsal bone	biolink:PhenotypicFeature	hp	UMLS:C4022478		Abnormality of the 4th long bone of foot	http://purl.obolibrary.org/obo/HP_0040035	
HP:0040036	Onychogryposis of fingernail	biolink:PhenotypicFeature	hp	UMLS:C4022477		Overgrowth and curving of fingernail	http://purl.obolibrary.org/obo/HP_0040036	Thickened fingernails.
HP:0040037	obsolete Thin fingernail (obsolete)	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040037	
HP:0040038	obsolete Thin toenail	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040038	
HP:0040039	Onycholysis of fingernails	biolink:PhenotypicFeature	hp	UMLS:C3553044		Detachment of fingernails|Onycholysis of fingernail	http://purl.obolibrary.org/obo/HP_0040039	
HP:0040040	Toenail onycholysis	biolink:PhenotypicFeature	hp	UMLS:C4022476		Detachment of toenails|Onycholysis of toenails	http://purl.obolibrary.org/obo/HP_0040040	Painless and spontaneous separation of a toenail from the nail bed.
HP:0040042	Aplasia of the eccrine sweat glands	biolink:PhenotypicFeature	hp	UMLS:C4022475		Absent eccrine sweat glands	http://purl.obolibrary.org/obo/HP_0040042	
HP:0040043	Hypoplasia of the eccrine sweat glands	biolink:PhenotypicFeature	hp	UMLS:C4022474		Underdeveloped major sweat glands	http://purl.obolibrary.org/obo/HP_0040043	
HP:0040044	Hypoplasia of the diaphragm	biolink:PhenotypicFeature	hp	UMLS:C4022473		Underdeveloped diaphragm	http://purl.obolibrary.org/obo/HP_0040044	
HP:0040045	Abnormal hemidiaphragm morphology	biolink:PhenotypicFeature	hp	UMLS:C4022472		Abnormality of the hemidiaphragms	http://purl.obolibrary.org/obo/HP_0040045	
HP:0040046	Abnormal left hemidiaphragm morphology	biolink:PhenotypicFeature	hp	UMLS:C4022471		Abnormality of the left hemidiaphragm	http://purl.obolibrary.org/obo/HP_0040046	
HP:0040047	Abnormal right hemidiaphragm morphology	biolink:PhenotypicFeature	hp	UMLS:C4022470		Abnormality of the right hemidiaphragm	http://purl.obolibrary.org/obo/HP_0040047	
HP:0040048	obsolete Aplasia of the left hemidiaphragm	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040048	
HP:0040049	Macular edema	biolink:PhenotypicFeature	hp	MSH:D008269|SNOMEDCT_US:37231002|UMLS:C0271051		Macular oedema	http://purl.obolibrary.org/obo/HP_0040049	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	biolink:PhenotypicFeature	hp	UMLS:C4022468		Partial absence of upper eyelashes|Sparse upper eyelashes|Hypotrichosis of upper eyelashes	http://purl.obolibrary.org/obo/HP_0040050	
HP:0040051	Abnormality of upper eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4022467		Abnormality of upper eyelashes	http://purl.obolibrary.org/obo/HP_0040051	
HP:0040052	Abnormality of lower eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4022466		Abnormality of lower eyelashes	http://purl.obolibrary.org/obo/HP_0040052	
HP:0040053	Long lower eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4022465		Increased length of lower eyelashes|Long lower eyelashes|Ciliary trichomegaly of lower eyelashes	http://purl.obolibrary.org/obo/HP_0040053	
HP:0040054	Short upper eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4022464		Decreased length of upper eyelashes|Short upper eyelashes	http://purl.obolibrary.org/obo/HP_0040054	
HP:0040055	Short lower eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4022463		Decreased length of lower eyelashes|Short lower eyelashes	http://purl.obolibrary.org/obo/HP_0040055	
HP:0040056	Absent upper eyelashes	biolink:PhenotypicFeature	hp	UMLS:C4022462|UMLS:C4280255|UMLS:C4280294		Absent upper eyelashes|Failure of development of upper eyelashes|Atrichia of upper eyelashes|Agenesis of upper eyelashes|Aplasia of upper eyelashes	http://purl.obolibrary.org/obo/HP_0040056	
HP:0040057	Abnormality of nasal hair	biolink:PhenotypicFeature	hp	UMLS:C4021858		Abnormality of nasal hair|Abnormality of nose hair	http://purl.obolibrary.org/obo/HP_0040057	
HP:0040059	Calcification of ribs	biolink:PhenotypicFeature	hp	UMLS:C4022461			http://purl.obolibrary.org/obo/HP_0040059	
HP:0040061	Osteosclerosis of the radius	biolink:PhenotypicFeature	hp	UMLS:C4022460			http://purl.obolibrary.org/obo/HP_0040061	
HP:0040062	Slender radius	biolink:PhenotypicFeature	hp	UMLS:C1968813			http://purl.obolibrary.org/obo/HP_0040062	
HP:0040063	Decreased adipose tissue	biolink:PhenotypicFeature	hp	UMLS:C4022459		Decreased fat tissue	http://purl.obolibrary.org/obo/HP_0040063	
HP:0040064	Abnormality of limbs	biolink:PhenotypicFeature	hp	SNOMEDCT_US:445144002|UMLS:C0239337|UMLS:C4073131		Abnormal limbs|Abnormality of limbs|Limb anomaly|Dysmelia	http://purl.obolibrary.org/obo/HP_0040064	
HP:0040065	obsolete Abnormal morphology of bones of the upper limbs	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040065	
HP:0040066	obsolete Abnormal morphology of bones of the lower limbs	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040066	
HP:0040068	Abnormality of limb bone	biolink:PhenotypicFeature	hp	UMLS:C4022456		Abnormality of limb bone	http://purl.obolibrary.org/obo/HP_0040068	
HP:0040069	Abnormal lower limb bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4022455|UMLS:C4022457		Abnormal shape of bones of the lower limbs|Abnormality of lower limb bone|Abnormal morphology of bones of the lower limbs	http://purl.obolibrary.org/obo/HP_0040069	
HP:0040070	Abnormal upper limb bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4022454|UMLS:C4022458		Abnormal shape of bones of the upper limbs|Abnormality of upper limb bone|Abnormal morphology of bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0040070	
HP:0040071	Abnormal morphology of ulna	biolink:PhenotypicFeature	hp	UMLS:C4022453			http://purl.obolibrary.org/obo/HP_0040071	
HP:0040072	Abnormality of forearm bone	biolink:PhenotypicFeature	hp	UMLS:C4022452		Abnormality of forearm bone	http://purl.obolibrary.org/obo/HP_0040072	
HP:0040073	Abnormal forearm bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4022451		Abnormal shape of of forearm bone	http://purl.obolibrary.org/obo/HP_0040073	
HP:0040075	Hypopituitarism	biolink:PhenotypicFeature	hp	MSH:D007018|SNOMEDCT_US:74728003|UMLS:C0020635			http://purl.obolibrary.org/obo/HP_0040075	
HP:0040077	obsolete Abnormal concentration of calcium in blood	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040077	
HP:0040078	Axonal degeneration	biolink:PhenotypicFeature	hp	UMLS:C1837496			http://purl.obolibrary.org/obo/HP_0040078	
HP:0040079	Irregular dentition	biolink:PhenotypicFeature	hp	UMLS:C1856765		Irregular teeth	http://purl.obolibrary.org/obo/HP_0040079	
HP:0040080	Anteverted ears	biolink:PhenotypicFeature	hp	UMLS:C1857055			http://purl.obolibrary.org/obo/HP_0040080	
HP:0040081	Abnormal circulating creatine kinase concentration	biolink:PhenotypicFeature	hp	UMLS:C4022449		Abnormal circulating CK concentration|Abnormal circulating CPK concentration|Abnormal levels of creatine kinase in blood|Abnormal circulation phospho-CK concentration	http://purl.obolibrary.org/obo/HP_0040081	Any deviation from the normal circulating creatine kinase concentration.
HP:0040082	Happy demeanor	biolink:PhenotypicFeature	hp	UMLS:C1856115		Happy demeanor|Happy demeanour	http://purl.obolibrary.org/obo/HP_0040082	A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.
HP:0040083	Toe walking	biolink:PhenotypicFeature	hp	SNOMEDCT_US:250018006|UMLS:C0427144		Toe walking|Toe-walking	http://purl.obolibrary.org/obo/HP_0040083	
HP:0040084	Abnormal circulating renin	biolink:PhenotypicFeature	hp	UMLS:C4021038		Abnormal circulating renin|Abnormal plasma renin	http://purl.obolibrary.org/obo/HP_0040084	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	biolink:PhenotypicFeature	hp	UMLS:C0857898		Abnormal circulating aldosterone|Abnormal plasma aldosterone	http://purl.obolibrary.org/obo/HP_0040085	
HP:0040086	Abnormal prolactin level	biolink:PhenotypicFeature	hp	UMLS:C4022448		Abnormal prolactin level	http://purl.obolibrary.org/obo/HP_0040086	
HP:0040087	Abnormal blood folate concentration	biolink:PhenotypicFeature	hp	UMLS:C4021037		Abnormal serum folate|Abnormality of folate in blood	http://purl.obolibrary.org/obo/HP_0040087	Any deviation from the normal concentration of folate in the blood circulation.
HP:0040088	Abnormal lymphocyte count	biolink:PhenotypicFeature	hp	SNOMEDCT_US:165534000|UMLS:C0580550		Abnormal lymphocyte count|Abnormal lymphocyte counts|Abnormal number of lymphocytes|Abnormal numbers of lymphocytes|Abnormality of lymphocyte number	http://purl.obolibrary.org/obo/HP_0040088	Any abnormality in the total number of lymphocytes in the blood.
HP:0040089	Abnormal natural killer cell count	biolink:PhenotypicFeature	hp	UMLS:C4021036		Abnormal NK cell count|Abnormal natural killer cell count|Abnormal number of natural killer cells|Abnormality of natural killer cell count	http://purl.obolibrary.org/obo/HP_0040089	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	biolink:PhenotypicFeature	hp	UMLS:C4022447		Abnormality of the eardrum	http://purl.obolibrary.org/obo/HP_0040090	An abnormality of the tympanic membrane
HP:0040091	Asymmetry of the size of ears	biolink:PhenotypicFeature	hp	UMLS:C4022446		Asymmetry of the size of ears	http://purl.obolibrary.org/obo/HP_0040091	
HP:0040092	Asymmetry of the shape of the ears	biolink:PhenotypicFeature	hp	UMLS:C4022445		Asymmetry of the shape of the ears	http://purl.obolibrary.org/obo/HP_0040092	
HP:0040093	Asymmetry of the position of the ears	biolink:PhenotypicFeature	hp	UMLS:C4022444		Uneven ears	http://purl.obolibrary.org/obo/HP_0040093	
HP:0040095	Neoplasm of the outer ear	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4022443		Outer ear tumor	http://purl.obolibrary.org/obo/HP_0040095	A tumor (abnormal growth of tissue) of the outer ear.
HP:0040096	Neoplasm of the inner ear	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C1512779		Inner ear tumor	http://purl.obolibrary.org/obo/HP_0040096	A tumor (abnormal growth of tissue) of the inner ear.
HP:0040097	Neoplasm of the ceruminal gland	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:403945001|SNOMEDCT_US:52707009|UMLS:C0334352		Adenoma of the ceruminous gland|Ceruminoma|Ceruminous adenoma	http://purl.obolibrary.org/obo/HP_0040097	A tumor (abnormal growth of tissue) of the ceruminal gland.
HP:0040098	Basalioma of the outer ear	biolink:PhenotypicFeature	hp	UMLS:C4022442			http://purl.obolibrary.org/obo/HP_0040098	
HP:0040099	Abnormality of the round window	biolink:PhenotypicFeature	hp	UMLS:C4022441			http://purl.obolibrary.org/obo/HP_0040099	
HP:0040100	Abnormality of the vestibular window	biolink:PhenotypicFeature	hp	UMLS:C4021035		Abnormality of the oval window	http://purl.obolibrary.org/obo/HP_0040100	
HP:0040101	Cutaneous atresia of the external auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4022440			http://purl.obolibrary.org/obo/HP_0040101	
HP:0040102	Osseous atresia of the external auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4022439			http://purl.obolibrary.org/obo/HP_0040102	
HP:0040103	Cutaneous stenosis of the external auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4022438			http://purl.obolibrary.org/obo/HP_0040103	
HP:0040104	Osseous stenosis of the external auditory canal	biolink:PhenotypicFeature	hp	UMLS:C4022437			http://purl.obolibrary.org/obo/HP_0040104	
HP:0040106	Morphological abnormality of the lateral semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C4021034		Morphological abnormality of the horizontal semicircular canal	http://purl.obolibrary.org/obo/HP_0040106	
HP:0040107	Morphological abnormality of the posterior semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C4022436			http://purl.obolibrary.org/obo/HP_0040107	
HP:0040108	Morphological abnormality of the anterior semicircular canal	biolink:PhenotypicFeature	hp	UMLS:C4022435			http://purl.obolibrary.org/obo/HP_0040108	
HP:0040109	Morphological abnormality of the utricle	biolink:PhenotypicFeature	hp	UMLS:C4022434			http://purl.obolibrary.org/obo/HP_0040109	
HP:0040110	Morphological abnormality of the saccule	biolink:PhenotypicFeature	hp	UMLS:C4022433			http://purl.obolibrary.org/obo/HP_0040110	
HP:0040111	Bilateral external ear deformity	biolink:PhenotypicFeature	hp	UMLS:C4022432			http://purl.obolibrary.org/obo/HP_0040111	
HP:0040112	Abnormal number of tubercles	biolink:PhenotypicFeature	hp	UMLS:C4022431			http://purl.obolibrary.org/obo/HP_0040112	
HP:0040113	Old-aged sensorineural hearing impairment	biolink:PhenotypicFeature	hp	MSH:D011304|SNOMEDCT_US:49526009|UMLS:C0033074		Presbycusis	http://purl.obolibrary.org/obo/HP_0040113	
HP:0040114	Absence of the reflex of the tensor tympani muscle	biolink:PhenotypicFeature	hp	UMLS:C4022430			http://purl.obolibrary.org/obo/HP_0040114	
HP:0040115	Abnormality of the Eustachian tube	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204250005|UMLS:C0262475			http://purl.obolibrary.org/obo/HP_0040115	
HP:0040116	Aplasia of the Eustachian tube	biolink:PhenotypicFeature	hp	SNOMEDCT_US:75231006|UMLS:C0266616		Absent eustachian tube	http://purl.obolibrary.org/obo/HP_0040116	
HP:0040117	Atresia of the Eustachian tube	biolink:PhenotypicFeature	hp	UMLS:C1388953			http://purl.obolibrary.org/obo/HP_0040117	
HP:0040118	Stenosis of the Eustachian tube	biolink:PhenotypicFeature	hp	SNOMEDCT_US:80101003|UMLS:C0271469			http://purl.obolibrary.org/obo/HP_0040118	
HP:0040119	Unilateral conductive hearing impairment	biolink:PhenotypicFeature	hp	UMLS:C4022428			http://purl.obolibrary.org/obo/HP_0040119	
HP:0040120	Abnormality of the reflex of the tensor tympani muscle	biolink:PhenotypicFeature	hp	UMLS:C4022427			http://purl.obolibrary.org/obo/HP_0040120	
HP:0040121	Abnormality of the acoustic reflex	biolink:PhenotypicFeature	hp	UMLS:C4022426		Abnormal auditory reflex|Abnormal middle-ear-muscles (MEM) reflex|Abnormality of stapedial reflex	http://purl.obolibrary.org/obo/HP_0040121	An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.
HP:0040122	Impairment of the the acoustic reflex	biolink:PhenotypicFeature	hp	UMLS:C4022425			http://purl.obolibrary.org/obo/HP_0040122	
HP:0040123	Impairment of the reflex of the tensor tympani muscle	biolink:PhenotypicFeature	hp	UMLS:C4022424			http://purl.obolibrary.org/obo/HP_0040123	
HP:0040124	Patent tuba eustachii	biolink:PhenotypicFeature	hp	UMLS:C4021033		Open tuba eustachii	http://purl.obolibrary.org/obo/HP_0040124	
HP:0040126	Abnormal vitamin B12 level	biolink:PhenotypicFeature	hp	UMLS:C4021032		Abnormal serum cobalamin level	http://purl.obolibrary.org/obo/HP_0040126	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	biolink:PhenotypicFeature	hp	UMLS:C4022423			http://purl.obolibrary.org/obo/HP_0040127	An abnormality of the composition of sweat or the levels of its components.
HP:0040128	Abnormal sweat electrolytes	biolink:PhenotypicFeature	hp	UMLS:C4022422			http://purl.obolibrary.org/obo/HP_0040128	
HP:0040129	Abnormal nerve conduction velocity	biolink:PhenotypicFeature	hp	UMLS:C1866772		Abnormal nerve conduction|Abnormal nerve conduction velocities|Nerve conduction abnormalities	http://purl.obolibrary.org/obo/HP_0040129	
HP:0040130	Abnormal serum iron concentration	biolink:PhenotypicFeature	hp	UMLS:C0235760			http://purl.obolibrary.org/obo/HP_0040130	
HP:0040131	Abnormal motor nerve conduction velocity	biolink:PhenotypicFeature	hp	UMLS:C4021031			http://purl.obolibrary.org/obo/HP_0040131	
HP:0040132	Abnormal sensory nerve conduction velocity	biolink:PhenotypicFeature	hp	UMLS:C4022421			http://purl.obolibrary.org/obo/HP_0040132	
HP:0040133	Abnormal circulating ferritin concentration	biolink:PhenotypicFeature	hp	UMLS:C0853228		Abnormal serum ferritin|Abnormal plasma ferritin	http://purl.obolibrary.org/obo/HP_0040133	A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.
HP:0040134	Abnormal hepatic iron concentration	biolink:PhenotypicFeature	hp	UMLS:C4022420		Abnormal liver iron concentration|Abnormal liver iron level	http://purl.obolibrary.org/obo/HP_0040134	
HP:0040135	Abnormal transferrin saturation	biolink:PhenotypicFeature	hp	UMLS:C4022419			http://purl.obolibrary.org/obo/HP_0040135	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	biolink:PhenotypicFeature	hp	UMLS:C4022418		Comedogenic acne	http://purl.obolibrary.org/obo/HP_0040137	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87412005|UMLS:C0334126		Histiocytosis, mucinous	http://purl.obolibrary.org/obo/HP_0040138	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:189099001|SNOMEDCT_US:36279001|SNOMEDCT_US:416439000|UMLS:C1704214			http://purl.obolibrary.org/obo/HP_0040139	Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.
HP:0040140	Degeneration of the striatum	biolink:PhenotypicFeature	hp	UMLS:C4022417			http://purl.obolibrary.org/obo/HP_0040140	
HP:0040141	Tardive dyskinesia	biolink:PhenotypicFeature	hp	MSH:D000071057|UMLS:C0686347			http://purl.obolibrary.org/obo/HP_0040141	
HP:0040142	Reduced 5-oxoprolinase level	biolink:PhenotypicFeature	hp	MSH:C535322|SNOMEDCT_US:26132002|UMLS:C0268525		5-oxoprolinase deficiency	http://purl.obolibrary.org/obo/HP_0040142	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	biolink:PhenotypicFeature	hp	UMLS:C3552843			http://purl.obolibrary.org/obo/HP_0040143	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237961001|UMLS:C1855995			http://purl.obolibrary.org/obo/HP_0040144	An increase in the level of L-2-hydroxyglutaric acid in the urine.
HP:0040145	Dicarboxylic acidemia	biolink:PhenotypicFeature	hp	UMLS:C4022416			http://purl.obolibrary.org/obo/HP_0040145	
HP:0040146	D-2-hydroxyglutaric acidemia	biolink:PhenotypicFeature	hp	UMLS:C4022415			http://purl.obolibrary.org/obo/HP_0040146	
HP:0040147	L-2-hydroxyglutaric acidemia	biolink:PhenotypicFeature	hp	UMLS:C3888081			http://purl.obolibrary.org/obo/HP_0040147	
HP:0040148	Cortical myoclonus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:698835006|UMLS:C3698239			http://purl.obolibrary.org/obo/HP_0040148	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	biolink:PhenotypicFeature	hp	UMLS:C4015203|UMLS:C4280291|UMLS:C4280292|UMLS:C4280293		Nappy scalp hair texture|Afro-textured scalp hair|Kinky scalp hair texture|Wooly scalp hair	http://purl.obolibrary.org/obo/HP_0040149	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	biolink:PhenotypicFeature	hp	MSH:C565051|UMLS:C1851582			http://purl.obolibrary.org/obo/HP_0040150	
HP:0040151	Epiblepharon of lower lid	biolink:PhenotypicFeature	hp	MSH:C565051|UMLS:C1851583			http://purl.obolibrary.org/obo/HP_0040151	
HP:0040154	Acne inversa	biolink:PhenotypicFeature	hp	MSH:D017497|SNOMEDCT_US:59393003|UMLS:C0162836		Hidradenitis suppurativa|Pyoderma fistulans significa|Smoker's boils|Verneuil's disease	http://purl.obolibrary.org/obo/HP_0040154	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	biolink:PhenotypicFeature	hp	UMLS:C4022414			http://purl.obolibrary.org/obo/HP_0040155	An increased amount of 3-hydroxybutyric acid in the urine.
HP:0040156	Elevated urinary carboxylic acid	biolink:PhenotypicFeature	hp	UMLS:C4022413			http://purl.obolibrary.org/obo/HP_0040156	An increased amount of carboxylic acid in the urine.
HP:0040157	Abnormal intermamillary distance	biolink:PhenotypicFeature	hp	UMLS:C4022412			http://purl.obolibrary.org/obo/HP_0040157	
HP:0040158	Short intermamillary distance	biolink:PhenotypicFeature	hp	UMLS:C4022411			http://purl.obolibrary.org/obo/HP_0040158	
HP:0040159	Abnormal spaced incisors	biolink:PhenotypicFeature	hp	UMLS:C4022410		Abnormal spaced incisors|Abnormality of spacing of front teeth|Abnormality of spacing of incisors	http://purl.obolibrary.org/obo/HP_0040159	
HP:0040160	Generalized osteoporosis	biolink:PhenotypicFeature	hp	MSH:D010024|SNOMEDCT_US:64859006|UMLS:C0029456|UMLS:C3805887		Generalised osteoporosis|Generalized osteoporosis with pathologic fractures	http://purl.obolibrary.org/obo/HP_0040160	
HP:0040161	Localized osteoporosis	biolink:PhenotypicFeature	hp	UMLS:C1398367		Localised osteoporosis	http://purl.obolibrary.org/obo/HP_0040161	
HP:0040162	Orthokeratosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:708474007|UMLS:C1843359			http://purl.obolibrary.org/obo/HP_0040162	Formation of an anuclear keratin layer
HP:0040163	Abnormal pelvis bone morphology	biolink:PhenotypicFeature	hp	UMLS:C4073132		Abnormal shape of pelvis bone	http://purl.obolibrary.org/obo/HP_0040163	
HP:0040164	Lipomas of eyelids	biolink:PhenotypicFeature	hp	UMLS:C4073133		Fatty tumors on the eyelids.	http://purl.obolibrary.org/obo/HP_0040164	Fatty tumors on the eyelids.
HP:0040165	Periostitis	biolink:PhenotypicFeature	hp	MSH:D010522|SNOMEDCT_US:41910004|UMLS:C0031111		Periostalgia	http://purl.obolibrary.org/obo/HP_0040165	Inflammation of the periosteum
HP:0040166	Abnormality of the periosteum	biolink:PhenotypicFeature	hp	UMLS:C4073134			http://purl.obolibrary.org/obo/HP_0040166	
HP:0040167	Facial papilloma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:240533004|UMLS:C0343643		Facial wart|Facial verruca	http://purl.obolibrary.org/obo/HP_0040167	
HP:0040168	obsolete Focal seizures, afebril	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040168	
HP:0040169	Loose anagen hair	biolink:PhenotypicFeature	hp	UMLS:C3554793			http://purl.obolibrary.org/obo/HP_0040169	
HP:0040170	Abnormality of hair growth	biolink:PhenotypicFeature	hp	UMLS:C4073136			http://purl.obolibrary.org/obo/HP_0040170	
HP:0040171	Decreased serum testosterone level	biolink:PhenotypicFeature	hp	SNOMEDCT_US:131078003|UMLS:C1295654|UMLS:C4073137		Decreased testosterone|Decreased serum testosterone level|Decreased serum testosterone levels|Low serum testosterone level|Low serum testosterone levels	http://purl.obolibrary.org/obo/HP_0040171	
HP:0040172	Abnormality of occipitofrontalis muscle	biolink:PhenotypicFeature	hp	UMLS:C4073138			http://purl.obolibrary.org/obo/HP_0040172	
HP:0040173	Abnormality of the tongue muscle	biolink:PhenotypicFeature	hp	UMLS:C4073139		Abnormality of the tongue muscle|Abnormality of lingual muscle	http://purl.obolibrary.org/obo/HP_0040173	
HP:0040174	Abnormality of extrinsic muscle of tongue	biolink:PhenotypicFeature	hp	UMLS:C4073140		Abnormality of extrinsic lingual muscle	http://purl.obolibrary.org/obo/HP_0040174	
HP:0040175	Platelet-activating factor acetylhydrolase deficiency	biolink:PhenotypicFeature	hp	MSH:C566640|UMLS:C3280315			http://purl.obolibrary.org/obo/HP_0040175	Reduced level of platelet-activating factor acetylhydrolase.
HP:0040176	Abnormal circulating phospholipid concentration	biolink:PhenotypicFeature	hp	UMLS:C4073141		Abnormal level of phospholipids	http://purl.obolibrary.org/obo/HP_0040176	Any deviation from the normal concentration of a phospholipid in the blood circulation.
HP:0040177	Abnormal level of platelet-activating factor	biolink:PhenotypicFeature	hp	UMLS:C4073142		Abnormal level of PAF	http://purl.obolibrary.org/obo/HP_0040177	
HP:0040178	Increased level of platelet-activating factor	biolink:PhenotypicFeature	hp	UMLS:C4073143		Increased level of PAF	http://purl.obolibrary.org/obo/HP_0040178	
HP:0040179	Decreased level of platelet-activating factor	biolink:PhenotypicFeature	hp	UMLS:C4073144		Decreased level of PAF	http://purl.obolibrary.org/obo/HP_0040179	
HP:0040180	obsolete Hyperkeratosis pilaris	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040180	
HP:0040181	Chapped lip	biolink:PhenotypicFeature	hp	MSH:D019557|SNOMEDCT_US:16459000|SNOMEDCT_US:238751002|SNOMEDCT_US:248182008|SNOMEDCT_US:402294001|UMLS:C0263449|UMLS:C0424489		Chapped lip|Chapped lips|Dry lips|Cheilitis simplex|Common cheilitis|Perioral dermatitis	http://purl.obolibrary.org/obo/HP_0040181	Cracking, fissuring, and peeling of the skin of the lips.
HP:0040182	Inappropriate sinus tachycardia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:425582007|UMLS:C1881170			http://purl.obolibrary.org/obo/HP_0040182	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:302690004|UMLS:C2945606		Stool holding|Stool soiling	http://purl.obolibrary.org/obo/HP_0040183	
HP:0040184	Oral bleeding	biolink:PhenotypicFeature	hp	MSH:D006472|SNOMEDCT_US:22490002|UMLS:C0029163		Oral bleeding|Oral hemorrhage	http://purl.obolibrary.org/obo/HP_0040184	
HP:0040185	Macrothrombocytopenia	biolink:PhenotypicFeature	hp	UMLS:C2751260		Macrothrombozytopenia	http://purl.obolibrary.org/obo/HP_0040185	
HP:0040186	Maculopapular exanthema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247471006|SNOMEDCT_US:47725002|UMLS:C0423791			http://purl.obolibrary.org/obo/HP_0040186	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	biolink:PhenotypicFeature	hp	MSH:D000071074|SNOMEDCT_US:206376005|UMLS:C0456103			http://purl.obolibrary.org/obo/HP_0040187	Systemic inflammatory response to infection in newborn babies.
HP:0040188	Osteochondrosis	biolink:PhenotypicFeature	hp	MSH:D055034|SNOMEDCT_US:19579005|UMLS:C0029429			http://purl.obolibrary.org/obo/HP_0040188	Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.
HP:0040189	Scaling skin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:14411002|SNOMEDCT_US:271767006|UMLS:C0237849		Scaling skin|flaking skin|peeling skin|scaly skin|Desquamation	http://purl.obolibrary.org/obo/HP_0040189	Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
HP:0040190	White scaling skin	biolink:PhenotypicFeature	hp	UMLS:C4073146		White scaling skin|White scaly skin	http://purl.obolibrary.org/obo/HP_0040190	
HP:0040191	Rectus femoris muscle atrophy	biolink:PhenotypicFeature	hp	UMLS:C2083352		Atrophy of the rectus femoris muscles	http://purl.obolibrary.org/obo/HP_0040191	
HP:0040192	APUdoma	biolink:PhenotypicFeature	hp	MSH:D001079|SNOMEDCT_US:253008000|SNOMEDCT_US:74926005|UMLS:C0003650		amine precursor uptake and decarboxylation tumours	http://purl.obolibrary.org/obo/HP_0040192	An endocrine tumor arising from an APUD cell.
HP:0040193	obsolete Pinealoblastoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040193	
HP:0040194	Increased head circumference	biolink:PhenotypicFeature	hp	UMLS:C4083076		Increased head circumference	http://purl.obolibrary.org/obo/HP_0040194	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271611007|UMLS:C0424688		Decreased head circumference	http://purl.obolibrary.org/obo/HP_0040195	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	biolink:PhenotypicFeature	hp	UMLS:C1836806			http://purl.obolibrary.org/obo/HP_0040196	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	biolink:PhenotypicFeature	hp	MSH:D004678|SNOMEDCT_US:58762006|UMLS:C0014068		Cerebral softening	http://purl.obolibrary.org/obo/HP_0040197	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	biolink:PhenotypicFeature	hp	MSH:C536915|UMLS:C3501843		Nonmedullary thyroid carcinoma|Thyroid cancer, nonmedullary	http://purl.obolibrary.org/obo/HP_0040198	
HP:0040199	obsolete Flat midface	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040199	
HP:0040200	Motor impersistence	biolink:PhenotypicFeature	hp	UMLS:C4073148		Negative chorea	http://purl.obolibrary.org/obo/HP_0040200	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	biolink:PhenotypicFeature	hp	UMLS:C4073149			http://purl.obolibrary.org/obo/HP_0040201	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	biolink:PhenotypicFeature	hp	UMLS:C4073150		Abnormal consumption behaviour	http://purl.obolibrary.org/obo/HP_0040202	
HP:0040203	Abnormal CSF neopterin level	biolink:PhenotypicFeature	hp	UMLS:C4073151			http://purl.obolibrary.org/obo/HP_0040203	Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).
HP:0040204	Elevated CSF neopterin level	biolink:PhenotypicFeature	hp	UMLS:C4073152			http://purl.obolibrary.org/obo/HP_0040204	Increased concentration of neopterin in the cerebrospinal fluid (CSF).
HP:0040205	Decreased CSF neopterin level	biolink:PhenotypicFeature	hp	UMLS:C4073153			http://purl.obolibrary.org/obo/HP_0040205	Decreased concentration of neopterin in the cerebrospinal fluid (CSF).
HP:0040206	Abnormal circulating neopterin concentration	biolink:PhenotypicFeature	hp	UMLS:C4073154			http://purl.obolibrary.org/obo/HP_0040206	Any deviation from the normal concentration of neopterin in the blood circulation.
HP:0040207	Abnormal CSF biopterin level	biolink:PhenotypicFeature	hp	UMLS:C4073155		Abnormal cerebrospinal fluid biopterin level	http://purl.obolibrary.org/obo/HP_0040207	Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).
HP:0040208	Elevated CSF biopterin level	biolink:PhenotypicFeature	hp	UMLS:C4073156			http://purl.obolibrary.org/obo/HP_0040208	Increased concentration of biopterin in the cerebrospinal fluid (CSF).
HP:0040209	Decreased CSF biopterin level	biolink:PhenotypicFeature	hp	UMLS:C4073157		Low CSF BH4 (tetrahydrobiopterin)	http://purl.obolibrary.org/obo/HP_0040209	Decreased concentration of biopterin in the cerebrospinal fluid (CSF).
HP:0040210	Abnormal circulating biopterin concentration	biolink:PhenotypicFeature	hp	UMLS:C4073158			http://purl.obolibrary.org/obo/HP_0040210	A deviation from the normal concentration of biopterin in the blood circulation.
HP:0040211	Abnormal skin morphology of the palm	biolink:PhenotypicFeature	hp	UMLS:C4073159			http://purl.obolibrary.org/obo/HP_0040211	An abnormality of the skin of the palm, that is, the skin of the front of the hand.
HP:0040212	Risus sardonicus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:64314006|UMLS:C0343494		Rictus grin	http://purl.obolibrary.org/obo/HP_0040212	Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.
HP:0040213	Hypopnea	biolink:PhenotypicFeature	hp	SNOMEDCT_US:386614005|UMLS:C0235546			http://purl.obolibrary.org/obo/HP_0040213	Hypopnea is referring to breathing that is abnormally shallow.
HP:0040214	Abnormal insulin level	biolink:PhenotypicFeature	hp	UMLS:C4073160			http://purl.obolibrary.org/obo/HP_0040214	An abnormal concentration of insulin in the body.
HP:0040215	Abnormal circulating insulin level	biolink:PhenotypicFeature	hp	UMLS:C4073161			http://purl.obolibrary.org/obo/HP_0040215	An abnormal concentration of insulin in the blood.
HP:0040216	Hypoinsulinemia	biolink:PhenotypicFeature	hp	UMLS:C2748055			http://purl.obolibrary.org/obo/HP_0040216	A decreased concentration of insulin in the blood.
HP:0040217	Elevated hemoglobin A1c	biolink:PhenotypicFeature	hp	UMLS:C4073162		Elevated HbA1c|Increased HbA1c levels|Elevated haemoglobin A1c|Elevated glycated hemoglobin|Elevated glycosylated hemoglobin	http://purl.obolibrary.org/obo/HP_0040217	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	biolink:PhenotypicFeature	hp	UMLS:C1855767		Reduced NK cell number|Reduced natural killer cell number	http://purl.obolibrary.org/obo/HP_0040218	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	biolink:PhenotypicFeature	hp	UMLS:C4073163		Absent NK cells	http://purl.obolibrary.org/obo/HP_0040219	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	biolink:PhenotypicFeature	hp	UMLS:C4280723			http://purl.obolibrary.org/obo/HP_0040220	
HP:0040221	Hypoplasia of the dental root	biolink:PhenotypicFeature	hp	UMLS:C4280722			http://purl.obolibrary.org/obo/HP_0040221	
HP:0040222	Maternal thrombophilia	biolink:PhenotypicFeature	hp	UMLS:C4280721			http://purl.obolibrary.org/obo/HP_0040222	An increased tendency towards thrombosis in the mother during a pregnancy.
HP:0040223	Pulmonary hemorrhage	biolink:PhenotypicFeature	hp	UMLS:C4280720		Pulmonary haemorrhage|Intrapulmonary hemorrhage	http://purl.obolibrary.org/obo/HP_0040223	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	biolink:PhenotypicFeature	hp	UMLS:C4280719		Abnormality of the fibrinolytic system	http://purl.obolibrary.org/obo/HP_0040224	Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)
HP:0040225	Decrease in high molecular weight von Willebrand factor Multimers	biolink:PhenotypicFeature	hp	UMLS:C4280718		Decrease in HMW VWF multimers	http://purl.obolibrary.org/obo/HP_0040225	A decrease in high molecular weight von Willebrand factor multimers.
HP:0040226	Decreased level of heparin co-factor II	biolink:PhenotypicFeature	hp	UMLS:C4280717		Heparin co-factor II deficiency	http://purl.obolibrary.org/obo/HP_0040226	An abnormality of coagulation related to a decreased concentration of heparin co-factor II
HP:0040227	Decreased level of histidine-rich glycoprotein	biolink:PhenotypicFeature	hp	UMLS:C4280716			http://purl.obolibrary.org/obo/HP_0040227	Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation
HP:0040228	Decreased level of plasminogen	biolink:PhenotypicFeature	hp	UMLS:C4280715		Hypoplasminogenemia	http://purl.obolibrary.org/obo/HP_0040228	A decreased level of Plasminogen
HP:0040229	Decreased level of thrombomodulin	biolink:PhenotypicFeature	hp	UMLS:C4255334		BDCA-3	http://purl.obolibrary.org/obo/HP_0040229	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	biolink:PhenotypicFeature	hp	UMLS:C4280714		Decreased level of tPA	http://purl.obolibrary.org/obo/HP_0040230	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	biolink:PhenotypicFeature	hp	UMLS:C4280713			http://purl.obolibrary.org/obo/HP_0040231	
HP:0040232	Delayed onset bleeding	biolink:PhenotypicFeature	hp	UMLS:C4280712			http://purl.obolibrary.org/obo/HP_0040232	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	biolink:PhenotypicFeature	hp	MSH:C567691|UMLS:C2750514		Reduced factor XIII, subunit A	http://purl.obolibrary.org/obo/HP_0040233	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	biolink:PhenotypicFeature	hp	MSH:C567688|UMLS:C2750481		Reduced factor XIII, subunit B	http://purl.obolibrary.org/obo/HP_0040234	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	biolink:PhenotypicFeature	hp	UMLS:C4280711		Dohle-like leukocyte inclusion bodies|Inclusion bodies in leukocytes	http://purl.obolibrary.org/obo/HP_0040235	The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.
HP:0040236	Hyperfibrinolysis	biolink:PhenotypicFeature	hp	UMLS:C3805089			http://purl.obolibrary.org/obo/HP_0040236	Increased degradation of fibrin, associated with clot instability and bleeding
HP:0040237	Impaired binding of factor VIII to VWF	biolink:PhenotypicFeature	hp	UMLS:C4280710		von Willebrand Disease Type II Normandy	http://purl.obolibrary.org/obo/HP_0040237	Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.
HP:0040238	Impaired neutrophil chemotaxis	biolink:PhenotypicFeature	hp	UMLS:C4280709		Neutrophil migratory defect	http://purl.obolibrary.org/obo/HP_0040238	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	biolink:PhenotypicFeature	hp	UMLS:C4280708			http://purl.obolibrary.org/obo/HP_0040239	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	biolink:PhenotypicFeature	hp	UMLS:C4280707			http://purl.obolibrary.org/obo/HP_0040240	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	biolink:PhenotypicFeature	hp	UMLS:C4280706			http://purl.obolibrary.org/obo/HP_0040241	Increased platelet agglutination in response to low-dose ristocetin
HP:0040242	Muscle hemorrhage	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95422003|UMLS:C0151702		Muscle haemorrhage	http://purl.obolibrary.org/obo/HP_0040242	Bleeding occuring within a muscle
HP:0040243	Prolonged euglobulin clot lysis time	biolink:PhenotypicFeature	hp	UMLS:C4280705			http://purl.obolibrary.org/obo/HP_0040243	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	biolink:PhenotypicFeature	hp	UMLS:C4280704			http://purl.obolibrary.org/obo/HP_0040244	Increased time to coagulation in the Russell's viper venom assay
HP:0040245	Reduced alpha-2-antiplasmin activity	biolink:PhenotypicFeature	hp	UMLS:C4280703			http://purl.obolibrary.org/obo/HP_0040245	Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.
HP:0040246	Reduced antithrombin antigen	biolink:PhenotypicFeature	hp	UMLS:C4280702			http://purl.obolibrary.org/obo/HP_0040246	Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.
HP:0040247	Reduced euglobulin clot lysis time	biolink:PhenotypicFeature	hp	UMLS:C4280701			http://purl.obolibrary.org/obo/HP_0040247	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	biolink:PhenotypicFeature	hp	UMLS:C4280700			http://purl.obolibrary.org/obo/HP_0040248	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	biolink:PhenotypicFeature	hp	UMLS:C4280699			http://purl.obolibrary.org/obo/HP_0040249	Reduced level of plasminogen activator inhibitor 1 antigen.
HP:0040250	Reduced prothrombin antigen	biolink:PhenotypicFeature	hp	UMLS:C4280698			http://purl.obolibrary.org/obo/HP_0040250	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	biolink:PhenotypicFeature	hp	UMLS:C4280697		Hand dimples	http://purl.obolibrary.org/obo/HP_0040251	A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.
HP:0040252	Abnormal size of the clitoris	biolink:PhenotypicFeature	hp	UMLS:C4280696			http://purl.obolibrary.org/obo/HP_0040252	
HP:0040253	Increased size of the clitoris	biolink:PhenotypicFeature	hp	UMLS:C4280695			http://purl.obolibrary.org/obo/HP_0040253	
HP:0040254	Decreased size of the clitoris	biolink:PhenotypicFeature	hp	UMLS:C4280694			http://purl.obolibrary.org/obo/HP_0040254	
HP:0040255	Aplasia/Hypoplasia of the clitoris	biolink:PhenotypicFeature	hp	UMLS:C4280693			http://purl.obolibrary.org/obo/HP_0040255	
HP:0040256	Aplastic/Hypoplastic nasopharyngeal adenoids	biolink:PhenotypicFeature	hp	UMLS:C4280290		Adenoids small or absent	http://purl.obolibrary.org/obo/HP_0040256	Absence or underdevelopment of the nasopharyngeal adenoids.
HP:0040257	Abnormal size of nasopharyngeal adenoids	biolink:PhenotypicFeature	hp	UMLS:C4280692			http://purl.obolibrary.org/obo/HP_0040257	A deviation in the size of nasopharyngeal adenoids.
HP:0040258	Hypoplastic nasopharyngeal adenoids	biolink:PhenotypicFeature	hp	UMLS:C4280691		Underdeveloped nasopharyngeal adenoids	http://purl.obolibrary.org/obo/HP_0040258	Underdevelopment of the nasopharyngeal adenoids.
HP:0040259	Aplastic nasopharyngeal adenoids	biolink:PhenotypicFeature	hp	UMLS:C4280690			http://purl.obolibrary.org/obo/HP_0040259	Absence of the nasopharyngeal adenoids as a developmental defect.
HP:0040260	Decreased size of nasopharyngeal adenoids	biolink:PhenotypicFeature	hp	UMLS:C4280689			http://purl.obolibrary.org/obo/HP_0040260	An abnormal decrease in the size of nasopharyngeal adenoids.
HP:0040261	Increased size of nasopharyngeal adenoids	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111591002|SNOMEDCT_US:276442006|UMLS:C0149825|UMLS:C0455938		Adenoid hypertrophy|Adenoids large	http://purl.obolibrary.org/obo/HP_0040261	An abnormal increase in the size of nasopharyngeal adenoids.
HP:0040262	Glue ear	biolink:PhenotypicFeature	hp	MSH:D010034|SNOMEDCT_US:78868004|UMLS:C0029883			http://purl.obolibrary.org/obo/HP_0040262	Middle ear is filled with glue-like fluid instead of air.
HP:0040263	Jaw ankylosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:285466001|UMLS:C0563350|UMLS:C4280688		Difficulty opening mouth	http://purl.obolibrary.org/obo/HP_0040263	
HP:0040264	Jaw pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274667000|UMLS:C0236000		Jaw pain	http://purl.obolibrary.org/obo/HP_0040264	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.
HP:0040265	Upper limb muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4280687			http://purl.obolibrary.org/obo/HP_0040265	
HP:0040266	Proximal upper limb muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4280686			http://purl.obolibrary.org/obo/HP_0040266	
HP:0040267	Distal upper limb muscle hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C4280685			http://purl.obolibrary.org/obo/HP_0040267	
HP:0040268	Recurrent infections of the middle ear	biolink:PhenotypicFeature	hp	UMLS:C0747085			http://purl.obolibrary.org/obo/HP_0040268	Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections
HP:0040269	Blocked Eustachian tube	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48145001|UMLS:C0149508		Obstruction of Eustachian tube	http://purl.obolibrary.org/obo/HP_0040269	
HP:0040270	Impaired glucose tolerance	biolink:PhenotypicFeature	hp	MP:0005291|UMLS:C0151671		Decreased glucose tolerance|Glucose tolerance decreased	http://purl.obolibrary.org/obo/HP_0040270	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	biolink:PhenotypicFeature	hp	UMLS:C4280684			http://purl.obolibrary.org/obo/HP_0040272	A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.
HP:0040273	Adenocarcinoma of the intestines	biolink:PhenotypicFeature	hp	NCIT:C2852|UMLS:C4280683			http://purl.obolibrary.org/obo/HP_0040273	A malignant epithelial tumor with a glandular organization that originates in the intestines.
HP:0040274	Adenocarcinoma of the small intestine	biolink:PhenotypicFeature	hp	NCIT:C2852|SNOMEDCT_US:424440001|UMLS:C0278803			http://purl.obolibrary.org/obo/HP_0040274	A malignant epithelial tumor with a glandular organization that originates in the small intestine.
HP:0040275	Adenocarcinoma of the large intestine	biolink:PhenotypicFeature	hp	NCIT:C2852|SNOMEDCT_US:408645001|UMLS:C1319315			http://purl.obolibrary.org/obo/HP_0040275	A malignant epithelial tumor with a glandular organization that originates in the large intestine.
HP:0040276	Adenocarcinoma of the colon	biolink:PhenotypicFeature	hp	NCIT:C2852|UMLS:C0338106			http://purl.obolibrary.org/obo/HP_0040276	
HP:0040277	Neoplasm of the pituitary gland	biolink:PhenotypicFeature	hp	NCIT:C3262			http://purl.obolibrary.org/obo/HP_0040277	
HP:0040278	Prolactinoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040278	A benign tumor (adenoma) of the pituitary gland
HP:0040279	Frequency	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040279	Class to represent frequency of phenotypic abnormalities within a patient cohort.
HP:0040280	Obligate	biolink:PhenotypicFeature	hp	ORPHA:453310		Obligate (100%)	http://purl.obolibrary.org/obo/HP_0040280	Always present, i.e. in 100% of the cases.
HP:0040281	Very frequent	biolink:PhenotypicFeature	hp	ORPHA:453311		Very frequent (99-80%)	http://purl.obolibrary.org/obo/HP_0040281	Present in 80% to 99% of the cases.
HP:0040282	Frequent	biolink:PhenotypicFeature	hp	ORPHA:453312		Frequent (79-30%)	http://purl.obolibrary.org/obo/HP_0040282	Present in 30% to 79% of the cases.
HP:0040283	Occasional	biolink:PhenotypicFeature	hp	ORPHA:453313		Occasional (29-5%)	http://purl.obolibrary.org/obo/HP_0040283	Present in 5% to 29% of the cases.
HP:0040284	Very rare	biolink:PhenotypicFeature	hp	ORPHA:453314		Very rare (&lt;4-1%)|Very rare (<4-1%)	http://purl.obolibrary.org/obo/HP_0040284	Present in 1% to 4% of the cases.
HP:0040285	Excluded	biolink:PhenotypicFeature	hp	ORPHA:453315		Excluded (0%)	http://purl.obolibrary.org/obo/HP_0040285	Present in 0% of the cases.
HP:0040286	Abnormal axial muscle morphology	biolink:PhenotypicFeature	hp			Abnormality of axial muscles	http://purl.obolibrary.org/obo/HP_0040286	A structural anomaly of the muscles of the trunk and head.
HP:0040287	Axial muscle atrophy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040287	
HP:0040288	Nasogastric tube feeding	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040288	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	biolink:PhenotypicFeature	hp			CyN	http://purl.obolibrary.org/obo/HP_0040289	Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).
HP:0040290	obsolete Abnormality of skeletal muscles	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040290	
HP:0040291	Skeletal muscle steatosis	biolink:PhenotypicFeature	hp			Steatosis of skeletal muscle|Steatosis of skeletal muscles	http://purl.obolibrary.org/obo/HP_0040291	
HP:0040292	Left hemiplegia	biolink:PhenotypicFeature	hp			Hemiplegia (left)	http://purl.obolibrary.org/obo/HP_0040292	
HP:0040293	Right hemiplegia	biolink:PhenotypicFeature	hp			Hemiplegia (right)	http://purl.obolibrary.org/obo/HP_0040293	
HP:0040294	Duplicated tongue	biolink:PhenotypicFeature	hp			Duplication of tongue|Tongue duplicated|Tongue duplication	http://purl.obolibrary.org/obo/HP_0040294	
HP:0040295	Duplication of the upper lip	biolink:PhenotypicFeature	hp			Double upper lip	http://purl.obolibrary.org/obo/HP_0040295	
HP:0040296	Abnormal location of the eyebrow	biolink:PhenotypicFeature	hp			Abnormal location of eyebrows|Abnormally placed eyebrows	http://purl.obolibrary.org/obo/HP_0040296	
HP:0040297	Preauricular cyst	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040297	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	biolink:PhenotypicFeature	hp			Hyperplastic endometrium	http://purl.obolibrary.org/obo/HP_0040298	
HP:0040299	Decreased circulating free fatty acid level	biolink:PhenotypicFeature	hp			Low fatty acids level	http://purl.obolibrary.org/obo/HP_0040299	
HP:0040300	Abnormal circulating free fatty acid concentration	biolink:PhenotypicFeature	hp			Abnormal circulating free fatty acid level	http://purl.obolibrary.org/obo/HP_0040300	Any deviation from the normal concentration of a free fatty acid in the blood circulation.
HP:0040301	Increased urinary glycerol	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040301	An increased concentration of glycerol in the urine.
HP:0040302	Hyperglycerolemia	biolink:PhenotypicFeature	hp			Pseudohypertriglyceridemia	http://purl.obolibrary.org/obo/HP_0040302	Increased concentration of glycerol in the blood.
HP:0040303	Decreased serum iron	biolink:PhenotypicFeature	hp			Low serum iron	http://purl.obolibrary.org/obo/HP_0040303	
HP:0040304	Duplication of the sella turcica	biolink:PhenotypicFeature	hp			Duplicate sella turcica|Duplicated sella turcica	http://purl.obolibrary.org/obo/HP_0040304	
HP:0040305	Increased male libido	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040305	Increased desire for sexual activity on the part of a male.
HP:0040306	Decreased male libido	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040306	Reduced desire for sexual activity on the part of a male.
HP:0040307	Male sexual dysfunction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040307	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040308	Inability of a male to reach orgasm.
HP:0040309	Increased size of the mandible	biolink:PhenotypicFeature	hp			Large jaw	http://purl.obolibrary.org/obo/HP_0040309	
HP:0040310	Sterile arthritis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040310	An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.
HP:0040311	Symmetric polyarthritis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040311	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	biolink:PhenotypicFeature	hp			Arthritis of temporomandibular joint	http://purl.obolibrary.org/obo/HP_0040312	
HP:0040313	Oligoarthritis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040313	A type of arthritis that affects up to four joints in the first six months of disease.
HP:0040314	Blind vagina	biolink:PhenotypicFeature	hp			Blind-ended vagina	http://purl.obolibrary.org/obo/HP_0040314	The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.
HP:0040315	Tongue edema	biolink:PhenotypicFeature	hp			Tongue oedema	http://purl.obolibrary.org/obo/HP_0040315	An abnormal accumulation of fluid and swelling in the tongue.
HP:0040316	obsolete Aplasia of the penis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040316	
HP:0040317	Blue urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040317	An abnormal blue color of the urine.
HP:0040318	Red urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040318	An abnormal red color of the urine.
HP:0040319	Dark urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040319	An abnormal dark color of the urine.
HP:0040320	Red-brown urine	biolink:PhenotypicFeature	hp			red brown urine	http://purl.obolibrary.org/obo/HP_0040320	An abnormal red-brown color of the urine.
HP:0040321	Dark yellow urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040321	An abnormal dark-yellow color of the urine.
HP:0040322	Purple urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040322	An abnormal purple color of the urine.
HP:0040323	Erythema of the eyelids	biolink:PhenotypicFeature	hp			Erythema of eyelid|Eyelid erythema	http://purl.obolibrary.org/obo/HP_0040323	Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.
HP:0040324	Heliotrope rash	biolink:PhenotypicFeature	hp			Heliotrope erythema	http://purl.obolibrary.org/obo/HP_0040324	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040325	A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.
HP:0040326	Hypoplasia of the olfactory bulb	biolink:PhenotypicFeature	hp			Hypoplasia of olfactory bulb|Hypoplastic olfactory bulb	http://purl.obolibrary.org/obo/HP_0040326	Underdevelopment of the olfactory bulb.
HP:0040327	Abnormal morphology of the olfactory bulb	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040327	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040328	An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.
HP:0040329	Multifocal hyperintensity of cerebral white matter on MRI	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040329	An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.
HP:0040330	Confluent hyperintensity of cerebral white matter on MRI	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040330	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040331	
HP:0040332	Multifocal hypointensity of cerebral white matter on MRI	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040332	
HP:0040333	Confluent hypointensity of cerebral white matter on MRI	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040333	
HP:0040334	Purulent rhinitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0040334	Chronic rhinitis accompanied by pus formation.
HP:0041042	Absent neutrophil lactoferrin	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041042	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041043	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041044	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041045	An increased number of mitochondria detected in neutrophils.
HP:0041046	Increased neutrophil ribosomes	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041046	An increased number of ribosomes detected in neutrophils.
HP:0041047	Bladder outlet obstruction	biolink:PhenotypicFeature	hp			Obstruction of bladder outlet	http://purl.obolibrary.org/obo/HP_0041047	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041048	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	biolink:PhenotypicFeature	hp			Starch intolerance|Amylose-amylopectin intolerance	http://purl.obolibrary.org/obo/HP_0041049	An inability to digest starch.
HP:0041050	Renal tubular cyst	biolink:PhenotypicFeature	hp			Renal tubule cyst	http://purl.obolibrary.org/obo/HP_0041050	Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.
HP:0041051	Ageusia	biolink:PhenotypicFeature	hp			Lost taste|Absent sense of taste|Impaired taste sensation	http://purl.obolibrary.org/obo/HP_0041051	A rare condition that is characterized by a complete loss of taste function of the tongue.
HP:0041052	Agenesis of putamen	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041052	A developmental defect characterized by the absence of the putamen owing to its failure to develop.
HP:0041053	Fractured head	biolink:PhenotypicFeature	hp			bone head	http://purl.obolibrary.org/obo/HP_0041053	A partial or complete breakage of the head.
HP:0041054	obsolete Fractured thoracic segment of trunk	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041054	
HP:0041055	Fractured humerus	biolink:PhenotypicFeature	hp			Broken humerus|Fracture of the humerus|Humeral fracture|Humerus fracture|bone humerus	http://purl.obolibrary.org/obo/HP_0041055	A partial or complete breakage of the humerus.
HP:0041056	Hot cross bun sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041056	A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).
HP:0041057	Transient decreased circulating IgG4	biolink:PhenotypicFeature	hp			Transient decreased IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041057	A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.
HP:0041058	Chronic decreased circulating IgG4	biolink:PhenotypicFeature	hp			Chronic decreased IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041058	A lasting decrease of immunoglobulin G4 (IgG4) in the blood.
HP:0041059	Chronic (near) absent circulating IgG4	biolink:PhenotypicFeature	hp			Chronic (near) absent IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041059	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	biolink:PhenotypicFeature	hp			Chronic partially decreased IgG4 in blood	http://purl.obolibrary.org/obo/HP_0041060	A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.
HP:0041061	Fractured calcaneus	biolink:PhenotypicFeature	hp			bone calcaneus	http://purl.obolibrary.org/obo/HP_0041061	A partial or complete breakage of the calcaneus.
HP:0041062	Transient decreased circulating IgG2	biolink:PhenotypicFeature	hp			Transient decreased IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041062	A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.
HP:0041063	Chronic decreased cirulating IgG2	biolink:PhenotypicFeature	hp			Chronic decreased IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041063	A lasting decrease of immunoglobulin G2 (IgG2) in the blood.
HP:0041064	Fractured knee	biolink:PhenotypicFeature	hp			bone knee	http://purl.obolibrary.org/obo/HP_0041064	A partial or complete breakage of the knee.
HP:0041065	Chronic (near) absent circulating IgG2	biolink:PhenotypicFeature	hp			Chronic (near) absent IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041065	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	biolink:PhenotypicFeature	hp			Chronic partially decreased IgG2 in blood	http://purl.obolibrary.org/obo/HP_0041066	A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.
HP:0041067	Transient decreased circulating IgG1	biolink:PhenotypicFeature	hp			Transient decreased IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041067	A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.
HP:0041068	Chronic decreased circulating IgG1	biolink:PhenotypicFeature	hp			Chronic decreased IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041068	A lasting decrease of immunoglobulin G1 (IgG1) in the blood.
HP:0041069	Chronic (near) absent circulating IgG1	biolink:PhenotypicFeature	hp			Chronic (near) absent IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041069	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	biolink:PhenotypicFeature	hp			Chronic partially decreased IgG1 in blood	http://purl.obolibrary.org/obo/HP_0041070	A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.
HP:0041071	Transient decreased circulating IgG3	biolink:PhenotypicFeature	hp			Transient decreased IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041071	A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.
HP:0041072	Chronic decreased circulating IgG3	biolink:PhenotypicFeature	hp			Chronic decreased IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041072	A lasting decrease of immunoglobulin G3 (IgG3) in the blood.
HP:0041073	Fractured thoracic vertebra	biolink:PhenotypicFeature	hp			bone thoracic vertebra	http://purl.obolibrary.org/obo/HP_0041073	A partial or complete breakage of the thoracic vertebra.
HP:0041074	Chronic (near) absent circulating IgG3	biolink:PhenotypicFeature	hp			Chronic (near) absent IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041074	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	biolink:PhenotypicFeature	hp			Chronic partially decreased IgG3 in blood	http://purl.obolibrary.org/obo/HP_0041075	A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.
HP:0041076	Abnormal immunoglobulin level in body fluid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041076	An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.
HP:0041077	Increased immunoglobulin level in body fluid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041077	An elevation from normal levels of immunoglobulins in body fluids, such as mucous.
HP:0041078	Decreased immunoglobulin level in body fluid	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041078	An reduction from normal levels of immunoglobulins in body fluids, such as mucous.
HP:0041079	Decreased body fat percentage	biolink:PhenotypicFeature	hp			Decreased adipose tissue percentage	http://purl.obolibrary.org/obo/HP_0041079	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041080	A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.
HP:0041081	Fractured lower leg	biolink:PhenotypicFeature	hp			Fracture of the lower leg|Lower extremity fracture|Lower limb fracture	http://purl.obolibrary.org/obo/HP_0041081	Bone fracture anywhere in the tibia, fibula, or ankle.
HP:0041082	Fractured skull	biolink:PhenotypicFeature	hp			bone skull	http://purl.obolibrary.org/obo/HP_0041082	A partial or complete breakage of the skull.
HP:0041083	Fractured phalanx	biolink:PhenotypicFeature	hp			bone phalanx	http://purl.obolibrary.org/obo/HP_0041083	A partial or complete breakage of the phalanx.
HP:0041084	Compression-fractured thoracic vertebra	biolink:PhenotypicFeature	hp			Compression fractured thoracic vertebra|Wedge fractured thoracic vertebra	http://purl.obolibrary.org/obo/HP_0041084	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	biolink:PhenotypicFeature	hp			Compression fractured vertebra|Wedge fractured vertebra	http://purl.obolibrary.org/obo/HP_0041085	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	biolink:PhenotypicFeature	hp			Compression fractured cervical vertebra|Wedge fractured cervical vertebra	http://purl.obolibrary.org/obo/HP_0041086	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	biolink:PhenotypicFeature	hp			Compression fractured lumbar vertebra|Wedge fractured lumbar vertebra	http://purl.obolibrary.org/obo/HP_0041087	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041088	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041089	A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.
HP:0041090	obsolete Avulsion fractured pelvic region of trunk	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041090	
HP:0041091	Avulsion fractured epiphysis of femur	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041091	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	biolink:PhenotypicFeature	hp			Highly sensitive|Hypersensitivity|Overly sensitive	http://purl.obolibrary.org/obo/HP_0041092	Heightened emotional reactivity to environmental stimuli, including emotions of others.
HP:0041114	Fractured metaphysis of femur	biolink:PhenotypicFeature	hp			bone metaphysis of femur	http://purl.obolibrary.org/obo/HP_0041114	A partial or complete breakage of the metaphysis of femur.
HP:0041115	Fractured right clavicle	biolink:PhenotypicFeature	hp			bone right clavicle	http://purl.obolibrary.org/obo/HP_0041115	A partial or complete breakage of the right clavicle.
HP:0041116	Fractured left clavicle	biolink:PhenotypicFeature	hp			bone left clavicle	http://purl.obolibrary.org/obo/HP_0041116	A partial or complete breakage of the left clavicle.
HP:0041117	Fractured lower limb segment	biolink:PhenotypicFeature	hp			bone lower limb segment	http://purl.obolibrary.org/obo/HP_0041117	A partial or complete breakage of the lower limb segment.
HP:0041118	Fractured upper limb segment	biolink:PhenotypicFeature	hp			bone upper limb segment	http://purl.obolibrary.org/obo/HP_0041118	A partial or complete breakage of the upper limb segment.
HP:0041119	Fractured metacarpus skeleton	biolink:PhenotypicFeature	hp			bone metacarpus skeleton	http://purl.obolibrary.org/obo/HP_0041119	A partial or complete breakage of the metacarpus skeleton.
HP:0041121	Fractured epiphysis of fifth metacarpal bone	biolink:PhenotypicFeature	hp			bone epiphysis of fifth metacarpal bone	http://purl.obolibrary.org/obo/HP_0041121	A partial or complete breakage of the epiphysis of fifth metacarpal bone.
HP:0041143	Fractured tibia	biolink:PhenotypicFeature	hp			Broken tibia|Fracture of the tibia|Tibial fracture|bone tibia	http://purl.obolibrary.org/obo/HP_0041143	A partial or complete breakage of the tibia.
HP:0041144	Fractured clavicle bone	biolink:PhenotypicFeature	hp			bone clavicle bone	http://purl.obolibrary.org/obo/HP_0041144	A partial or complete breakage of the clavicle bone.
HP:0041145	Fractured acetabular part of hip bone	biolink:PhenotypicFeature	hp			bone acetabular part of hip bone	http://purl.obolibrary.org/obo/HP_0041145	A partial or complete breakage of the acetabular part of hip bone.
HP:0041146	Fractured coccyx	biolink:PhenotypicFeature	hp			bone coccyx	http://purl.obolibrary.org/obo/HP_0041146	A partial or complete breakage of the coccyx.
HP:0041147	Fractured epiphysis	biolink:PhenotypicFeature	hp			bone epiphysis	http://purl.obolibrary.org/obo/HP_0041147	A partial or complete breakage of the epiphysis.
HP:0041149	Fractured navicular bone of pes	biolink:PhenotypicFeature	hp			bone navicular bone of pes	http://purl.obolibrary.org/obo/HP_0041149	A partial or complete breakage of the navicular bone of pes.
HP:0041150	Fractured cuboid bone	biolink:PhenotypicFeature	hp			bone cuboid bone	http://purl.obolibrary.org/obo/HP_0041150	A partial or complete breakage of the cuboid bone.
HP:0041152	Fractured sternoclavicular joint	biolink:PhenotypicFeature	hp			bone sternoclavicular joint	http://purl.obolibrary.org/obo/HP_0041152	A partial or complete breakage of the sternoclavicular joint.
HP:0041153	Fractured ankle	biolink:PhenotypicFeature	hp			bone ankle joint	http://purl.obolibrary.org/obo/HP_0041153	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	biolink:PhenotypicFeature	hp			bone elbow joint	http://purl.obolibrary.org/obo/HP_0041154	A partial or complete breakage of the elbow joint.
HP:0041155	Fractured mandible	biolink:PhenotypicFeature	hp			bone mandible	http://purl.obolibrary.org/obo/HP_0041155	A partial or complete breakage of the mandible.
HP:0041156	Fractured orbit of skull	biolink:PhenotypicFeature	hp			bone orbit of skull	http://purl.obolibrary.org/obo/HP_0041156	A partial or complete breakage of the orbit of skull.
HP:0041157	Fractured larynx	biolink:PhenotypicFeature	hp			bone larynx	http://purl.obolibrary.org/obo/HP_0041157	A partial or complete breakage of the larynx.
HP:0041158	obsolete Fractured trunk	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041158	
HP:0041159	Fractured rib	biolink:PhenotypicFeature	hp			bone rib	http://purl.obolibrary.org/obo/HP_0041159	A partial or complete breakage of the rib.
HP:0041161	obsolete Fractured pelvic region of trunk	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0041161	
HP:0041162	Fractured foot bone	biolink:PhenotypicFeature	hp			Broken foot|Fractured pes|bone pes|Metatarsal fracture	http://purl.obolibrary.org/obo/HP_0041162	A partial or complete breakage of the foot bone, such as the metatarsal or toe.
HP:0041163	Fractured manual digit	biolink:PhenotypicFeature	hp			bone manual digit	http://purl.obolibrary.org/obo/HP_0041163	A partial or complete breakage of the manual digit.
HP:0041164	Fractured talus	biolink:PhenotypicFeature	hp			bone talus	http://purl.obolibrary.org/obo/HP_0041164	A partial or complete breakage of the talus.
HP:0041165	Fractured maxilla	biolink:PhenotypicFeature	hp			bone maxilla	http://purl.obolibrary.org/obo/HP_0041165	A partial or complete breakage of the maxilla.
HP:0041166	Fractured vertebra	biolink:PhenotypicFeature	hp			bone vertebra	http://purl.obolibrary.org/obo/HP_0041166	A partial or complete breakage of the vertebra.
HP:0041167	Fractured cervical vertebra	biolink:PhenotypicFeature	hp			bone cervical vertebra	http://purl.obolibrary.org/obo/HP_0041167	A partial or complete breakage of the cervical vertebra.
HP:0041168	Fractured lumbar vertebra	biolink:PhenotypicFeature	hp			bone lumbar vertebra	http://purl.obolibrary.org/obo/HP_0041168	A partial or complete breakage of the lumbar vertebra.
HP:0041172	Fractured fused sacrum	biolink:PhenotypicFeature	hp			bone fused sacrum	http://purl.obolibrary.org/obo/HP_0041172	A partial or complete breakage of the fused sacrum.
HP:0041173	Fractured metacarpophalangeal joint	biolink:PhenotypicFeature	hp			bone metacarpophalangeal joint	http://purl.obolibrary.org/obo/HP_0041173	A partial or complete breakage of the metacarpophalangeal joint.
HP:0041174	Fractured distal phalanx of manus	biolink:PhenotypicFeature	hp			bone distal phalanx of manus	http://purl.obolibrary.org/obo/HP_0041174	A partial or complete breakage of the distal phalanx of manus.
HP:0041175	Fractured middle phalanx of pes	biolink:PhenotypicFeature	hp			bone middle phalanx of pes	http://purl.obolibrary.org/obo/HP_0041175	A partial or complete breakage of the middle phalanx of pes.
HP:0041176	Fractured distal phalanx of manual digit 2	biolink:PhenotypicFeature	hp			bone distal phalanx of manual digit 2	http://purl.obolibrary.org/obo/HP_0041176	A partial or complete breakage of the distal phalanx of manual digit 2.
HP:0041177	Fractured distal phalanx of manual digit 3	biolink:PhenotypicFeature	hp			bone distal phalanx of manual digit 3	http://purl.obolibrary.org/obo/HP_0041177	A partial or complete breakage of the distal phalanx of manual digit 3.
HP:0041178	Fractured distal phalanx of manual digit 4	biolink:PhenotypicFeature	hp			bone distal phalanx of manual digit 4	http://purl.obolibrary.org/obo/HP_0041178	A partial or complete breakage of the distal phalanx of manual digit 4.
HP:0041179	Fractured distal phalanx of manual digit 5	biolink:PhenotypicFeature	hp			bone distal phalanx of manual digit 5	http://purl.obolibrary.org/obo/HP_0041179	A partial or complete breakage of the distal phalanx of manual digit 5.
HP:0041180	Fractured distal phalanx of pedal digit 1	biolink:PhenotypicFeature	hp			bone distal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/HP_0041180	A partial or complete breakage of the distal phalanx of pedal digit 1.
HP:0041181	Fractured distal phalanx of pedal digit 3	biolink:PhenotypicFeature	hp			bone distal phalanx of pedal digit 3	http://purl.obolibrary.org/obo/HP_0041181	A partial or complete breakage of the distal phalanx of pedal digit 3.
HP:0041182	Fractured middle phalanx of manual digit 2	biolink:PhenotypicFeature	hp			bone middle phalanx of manual digit 2	http://purl.obolibrary.org/obo/HP_0041182	A partial or complete breakage of the middle phalanx of manual digit 2.
HP:0041183	Fractured middle phalanx of manual digit 3	biolink:PhenotypicFeature	hp			bone middle phalanx of manual digit 3	http://purl.obolibrary.org/obo/HP_0041183	A partial or complete breakage of the middle phalanx of manual digit 3.
HP:0041184	Fractured middle phalanx of manual digit 4	biolink:PhenotypicFeature	hp			bone middle phalanx of manual digit 4	http://purl.obolibrary.org/obo/HP_0041184	A partial or complete breakage of the middle phalanx of manual digit 4.
HP:0041185	Fractured middle phalanx of manual digit 5	biolink:PhenotypicFeature	hp			bone middle phalanx of manual digit 5	http://purl.obolibrary.org/obo/HP_0041185	A partial or complete breakage of the middle phalanx of manual digit 5.
HP:0041186	Fractured middle phalanx of pedal digit 3	biolink:PhenotypicFeature	hp			bone middle phalanx of pedal digit 3	http://purl.obolibrary.org/obo/HP_0041186	A partial or complete breakage of the middle phalanx of pedal digit 3.
HP:0041187	Fractured proximal phalanx of pedal digit 1	biolink:PhenotypicFeature	hp			bone proximal phalanx of pedal digit 1	http://purl.obolibrary.org/obo/HP_0041187	A partial or complete breakage of the proximal phalanx of pedal digit 1.
HP:0041188	Fractured proximal phalanx of manual digit 1	biolink:PhenotypicFeature	hp			bone proximal phalanx of manual digit 1	http://purl.obolibrary.org/obo/HP_0041188	A partial or complete breakage of the proximal phalanx of manual digit 1.
HP:0041189	Fractured epiphysis of femur	biolink:PhenotypicFeature	hp			bone epiphysis of femur	http://purl.obolibrary.org/obo/HP_0041189	A partial or complete breakage of the epiphysis of femur.
HP:0041190	Fractured epiphysis of second metacarpal bone	biolink:PhenotypicFeature	hp			bone epiphysis of second metacarpal bone	http://purl.obolibrary.org/obo/HP_0041190	A partial or complete breakage of the epiphysis of second metacarpal bone.
HP:0041191	Fractured epiphysis of third metacarpal bone	biolink:PhenotypicFeature	hp			bone epiphysis of third metacarpal bone	http://purl.obolibrary.org/obo/HP_0041191	A partial or complete breakage of the epiphysis of third metacarpal bone.
HP:0041192	Fractured epiphysis of fourth metacarpal bone	biolink:PhenotypicFeature	hp			bone epiphysis of fourth metacarpal bone	http://purl.obolibrary.org/obo/HP_0041192	A partial or complete breakage of the epiphysis of fourth metacarpal bone.
HP:0041193	Fractured epiphysis of first metatarsal bone	biolink:PhenotypicFeature	hp			bone epiphysis of first metatarsal bone	http://purl.obolibrary.org/obo/HP_0041193	A partial or complete breakage of the epiphysis of first metatarsal bone.
HP:0041194	Fractured epiphysis of second metatarsal bone	biolink:PhenotypicFeature	hp			bone epiphysis of second metatarsal bone	http://purl.obolibrary.org/obo/HP_0041194	A partial or complete breakage of the epiphysis of second metatarsal bone.
HP:0041195	Fractured epiphysis of third metatarsal bone	biolink:PhenotypicFeature	hp			bone epiphysis of third metatarsal bone	http://purl.obolibrary.org/obo/HP_0041195	A partial or complete breakage of the epiphysis of third metatarsal bone.
HP:0041196	Fractured distal epiphysis of radius	biolink:PhenotypicFeature	hp			bone distal epiphysis of radius	http://purl.obolibrary.org/obo/HP_0041196	A partial or complete breakage of the distal epiphysis of radius.
HP:0041197	Fractured proximal epiphysis of first metacarpal bone	biolink:PhenotypicFeature	hp			bone proximal epiphysis of first metacarpal bone	http://purl.obolibrary.org/obo/HP_0041197	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	biolink:PhenotypicFeature	hp			bone proximal epiphysis of middle phalanx of manual digit 3	http://purl.obolibrary.org/obo/HP_0041198	A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.
HP:0041199	Fractured interphalangeal joint	biolink:PhenotypicFeature	hp			bone interphalangeal joint	http://purl.obolibrary.org/obo/HP_0041199	A partial or complete breakage of the interphalangeal joint.
HP:0041200	Fractured sternal end of clavicle	biolink:PhenotypicFeature	hp			bone sternal end of clavicle	http://purl.obolibrary.org/obo/HP_0041200	A partial or complete breakage of the sternal end of clavicle.
HP:0041209	Fractured epiphysis of middle phalanx of manus	biolink:PhenotypicFeature	hp			bone epiphysis of middle phalanx of manus	http://purl.obolibrary.org/obo/HP_0041209	A partial or complete breakage of the epiphysis of middle phalanx of manus.
HP:0041210	Fractured lateral malleolus of fibula	biolink:PhenotypicFeature	hp			bone lateral malleolus of fibula	http://purl.obolibrary.org/obo/HP_0041210	A partial or complete breakage of the lateral malleolus of fibula.
HP:0041211	Fractured proximal phalanx of digit 2	biolink:PhenotypicFeature	hp			bone proximal phalanx of digit 2	http://purl.obolibrary.org/obo/HP_0041211	A partial or complete breakage of the proximal phalanx of digit 2.
HP:0041212	Fractured proximal phalanx of digit 3	biolink:PhenotypicFeature	hp			bone proximal phalanx of digit 3	http://purl.obolibrary.org/obo/HP_0041212	A partial or complete breakage of the proximal phalanx of digit 3.
HP:0041213	Fractured proximal phalanx of digit 4	biolink:PhenotypicFeature	hp			bone proximal phalanx of digit 4	http://purl.obolibrary.org/obo/HP_0041213	A partial or complete breakage of the proximal phalanx of digit 4.
HP:0041214	Fractured proximal phalanx of digit 5	biolink:PhenotypicFeature	hp			bone proximal phalanx of digit 5	http://purl.obolibrary.org/obo/HP_0041214	A partial or complete breakage of the proximal phalanx of digit 5.
HP:0041215	Fractured fused metatarsal bones 2-4	biolink:PhenotypicFeature	hp			bone fused metatarsal bones 2-4	http://purl.obolibrary.org/obo/HP_0041215	A partial or complete breakage of the fused metatarsal bones 2-4.
HP:0041216	Fractured distal epiphysis of distal phalanx of manual digit 1	biolink:PhenotypicFeature	hp			bone distal epiphysis of distal phalanx of manual digit 1	http://purl.obolibrary.org/obo/HP_0041216	A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.
HP:0041217	Fractured shoulder	biolink:PhenotypicFeature	hp			bone shoulder joint	http://purl.obolibrary.org/obo/HP_0041217	A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.
HP:0041218	Fractured distal phalanx	biolink:PhenotypicFeature	hp			bone distal phalanx	http://purl.obolibrary.org/obo/HP_0041218	A partial or complete breakage of the distal phalanx.
HP:0041219	Fractured elbow	biolink:PhenotypicFeature	hp			bone elbow	http://purl.obolibrary.org/obo/HP_0041219	A partial or complete breakage of the elbow.
HP:0041220	Fractured facial bone	biolink:PhenotypicFeature	hp			bone facial bone	http://purl.obolibrary.org/obo/HP_0041220	A partial or complete breakage of the facial bone.
HP:0041221	Fractured head of femur	biolink:PhenotypicFeature	hp			bone head of femur	http://purl.obolibrary.org/obo/HP_0041221	A partial or complete breakage of the head of femur.
HP:0041222	Fractured fibula	biolink:PhenotypicFeature	hp			Broken fibula|Fibula fracture|Fracture of the fibula|bone fibula	http://purl.obolibrary.org/obo/HP_0041222	A partial or complete breakage of the fibula.
HP:0041223	Fractured metatarsal bone of digit 5	biolink:PhenotypicFeature	hp			bone metatarsal bone of digit 5	http://purl.obolibrary.org/obo/HP_0041223	A partial or complete breakage of the metatarsal bone of digit 5.
HP:0041224	Fractured manual digit bone	biolink:PhenotypicFeature	hp			bone manual digit bone	http://purl.obolibrary.org/obo/HP_0041224	A partial or complete breakage of the manual digit bone.
HP:0041225	Fractured metacarpal bone of digit 1	biolink:PhenotypicFeature	hp			bone metacarpal bone of digit 1	http://purl.obolibrary.org/obo/HP_0041225	A partial or complete breakage of the metacarpal bone of digit 1.
HP:0041226	Fractured distal tarsal bone	biolink:PhenotypicFeature	hp			bone distal tarsal bone	http://purl.obolibrary.org/obo/HP_0041226	A partial or complete breakage of the distal tarsal bone.
HP:0041227	Fractured distal tarsal bone 2	biolink:PhenotypicFeature	hp			bone distal tarsal bone 2	http://purl.obolibrary.org/obo/HP_0041227	A partial or complete breakage of the distal tarsal bone 2.
HP:0041228	Fractured distal tarsal bone 3	biolink:PhenotypicFeature	hp			bone distal tarsal bone 3	http://purl.obolibrary.org/obo/HP_0041228	A partial or complete breakage of the distal tarsal bone 3.
HP:0041230	Fractured metatarsal bone of digit 4	biolink:PhenotypicFeature	hp			bone metatarsal bone of digit 4	http://purl.obolibrary.org/obo/HP_0041230	A partial or complete breakage of the metatarsal bone of digit 4.
HP:0041231	Fractured metatarsal bone of digit 1	biolink:PhenotypicFeature	hp			bone metatarsal bone of digit 1	http://purl.obolibrary.org/obo/HP_0041231	A partial or complete breakage of the metatarsal bone of digit 1.
HP:0041232	Fractured skeleton of manual acropodium	biolink:PhenotypicFeature	hp			bone skeleton of manual acropodium	http://purl.obolibrary.org/obo/HP_0041232	A partial or complete breakage of the skeleton of manual acropodium.
HP:0041233	Fractured ilium	biolink:PhenotypicFeature	hp			bone ilium	http://purl.obolibrary.org/obo/HP_0041233	A partial or complete breakage of the ilium.
HP:0041234	Fractured bone of jaw	biolink:PhenotypicFeature	hp			bone bone of jaw	http://purl.obolibrary.org/obo/HP_0041234	A partial or complete breakage of the bone of jaw.
HP:0041235	Fractured hindlimb bone	biolink:PhenotypicFeature	hp			bone hindlimb bone	http://purl.obolibrary.org/obo/HP_0041235	A partial or complete breakage of the hindlimb bone.
HP:0041236	Fractured middle phalanx of manus	biolink:PhenotypicFeature	hp			bone middle phalanx of manus	http://purl.obolibrary.org/obo/HP_0041236	A partial or complete breakage of the middle phalanx of manus.
HP:0041237	Fractured patella	biolink:PhenotypicFeature	hp			bone patella	http://purl.obolibrary.org/obo/HP_0041237	A partial or complete breakage of the patella.
HP:0041239	Fractured manual digit 1 phalanx	biolink:PhenotypicFeature	hp			bone manual digit 1 phalanx	http://purl.obolibrary.org/obo/HP_0041239	A partial or complete breakage of the manual digit 1 phalanx.
HP:0041240	Fractured phalanx of pes	biolink:PhenotypicFeature	hp			bone phalanx of pes	http://purl.obolibrary.org/obo/HP_0041240	A partial or complete breakage of the phalanx of pes.
HP:0041241	Fractured phalanx of manus	biolink:PhenotypicFeature	hp			bone phalanx of manus	http://purl.obolibrary.org/obo/HP_0041241	A partial or complete breakage of the phalanx of manus.
HP:0041243	Fractured proximal phalanx of manus	biolink:PhenotypicFeature	hp			bone proximal phalanx of manus	http://purl.obolibrary.org/obo/HP_0041243	A partial or complete breakage of the proximal phalanx of manus.
HP:0041244	Fractured scapula	biolink:PhenotypicFeature	hp			bone scapula	http://purl.obolibrary.org/obo/HP_0041244	A partial or complete breakage of the scapula.
HP:0041245	Fractured shoulder bone	biolink:PhenotypicFeature	hp			bone shoulder bone	http://purl.obolibrary.org/obo/HP_0041245	A partial or complete breakage of the shoulder bone.
HP:0041246	Fractured sternum	biolink:PhenotypicFeature	hp			bone sternum	http://purl.obolibrary.org/obo/HP_0041246	A partial or complete breakage of the sternum.
HP:0041247	Fractured tarsal bone	biolink:PhenotypicFeature	hp			bone tarsal bone	http://purl.obolibrary.org/obo/HP_0041247	A partial or complete breakage of the tarsal bone.
HP:0041248	Fractured carpal bone	biolink:PhenotypicFeature	hp			Broken wrist|Carpal bone fracture|Fractured wrist|Wrist fracture|bone carpal bone	http://purl.obolibrary.org/obo/HP_0041248	A partial or complete breakage of the carpal bone.
HP:0041249	Fractured nose	biolink:PhenotypicFeature	hp			bone nose	http://purl.obolibrary.org/obo/HP_0041249	A partial or complete breakage of the nose.
HP:0045001	Abnormal ossification of the trapezium	biolink:PhenotypicFeature	hp	UMLS:C4022409			http://purl.obolibrary.org/obo/HP_0045001	
HP:0045002	Absent ossification of the trapezium	biolink:PhenotypicFeature	hp	UMLS:C4022408			http://purl.obolibrary.org/obo/HP_0045002	
HP:0045003	Abnormal ossification of the scaphoid	biolink:PhenotypicFeature	hp	UMLS:C4022407			http://purl.obolibrary.org/obo/HP_0045003	
HP:0045004	Abnormal ossification of the trapezoid bone	biolink:PhenotypicFeature	hp	UMLS:C4022406			http://purl.obolibrary.org/obo/HP_0045004	
HP:0045005	Neural tube defect	biolink:PhenotypicFeature	hp	MSH:D009436|SNOMEDCT_US:253098009|UMLS:C0027794		Abnormality of neural tube closure	http://purl.obolibrary.org/obo/HP_0045005	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	biolink:PhenotypicFeature	hp	UMLS:C4022404		Absent lymphatic vessels	http://purl.obolibrary.org/obo/HP_0045006	Aplasia (absence) of the lymphatic vessels.
HP:0045007	Abnormal substantia nigra morphology	biolink:PhenotypicFeature	hp	UMLS:C4022403		Abnormality of the substantia nigra	http://purl.obolibrary.org/obo/HP_0045007	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	biolink:PhenotypicFeature	hp	UMLS:C4022402			http://purl.obolibrary.org/obo/HP_0045008	
HP:0045009	Abnormal morphology of the radius	biolink:PhenotypicFeature	hp	UMLS:C4022401			http://purl.obolibrary.org/obo/HP_0045009	
HP:0045010	Abnormality of peripheral nerves	biolink:PhenotypicFeature	hp	UMLS:C4022400			http://purl.obolibrary.org/obo/HP_0045010	
HP:0045011	Decreased urine bicarbonate concentration	biolink:PhenotypicFeature	hp	UMLS:C4022399		Decreased urine HCO3 concentration	http://purl.obolibrary.org/obo/HP_0045011	Abnormally decreased concentration of hydrogencarbonate in the urine.
HP:0045012	Decreased urinary catecholamine concentration	biolink:PhenotypicFeature	hp	UMLS:C4022398			http://purl.obolibrary.org/obo/HP_0045012	
HP:0045013	obsolete Decreased urinary glucose concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045013	
HP:0045014	Hypolipidemia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:238090007|UMLS:C0342892			http://purl.obolibrary.org/obo/HP_0045014	
HP:0045016	obsolete Elevated serum long-chain fatty acids	biolink:PhenotypicFeature	hp			Increased serum long-chain fatty acids	http://purl.obolibrary.org/obo/HP_0045016	
HP:0045017	Congenital malformation of the left heart	biolink:PhenotypicFeature	hp	UMLS:C4022397			http://purl.obolibrary.org/obo/HP_0045017	Defect or defects of the morphogenesis of the left heart identifiable at birth.
HP:0045018	Partial duplication of eyebrows	biolink:PhenotypicFeature	hp	UMLS:C4022396		Partial double eyebrow|Partial duplication of eyebrows	http://purl.obolibrary.org/obo/HP_0045018	
HP:0045025	Narrow palpebral fissure	biolink:PhenotypicFeature	hp	UMLS:C1837464|UMLS:C2675021		Small opening between the eyelids|Narrow eyelid opening|Narrow palpebral fissures|Small palpebral fissures|Decreased size of palpebral fissure	http://purl.obolibrary.org/obo/HP_0045025	Reduction in the vertical distance between the upper and lower eyelids.
HP:0045026	Abnormality of the mediastinum	biolink:PhenotypicFeature	hp	UMLS:C4022395			http://purl.obolibrary.org/obo/HP_0045026	
HP:0045027	Abnormality of the thoracic cavity	biolink:PhenotypicFeature	hp	UMLS:C4022394			http://purl.obolibrary.org/obo/HP_0045027	
HP:0045028	Microlissencephaly	biolink:PhenotypicFeature	hp	UMLS:C4021030		Lissencephaly type III|Type 3 lissencephaly|Type III lissencephaly	http://purl.obolibrary.org/obo/HP_0045028	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	biolink:PhenotypicFeature	hp	MSH:C562487|SNOMEDCT_US:24129002|UMLS:C0264005			http://purl.obolibrary.org/obo/HP_0045029	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	biolink:PhenotypicFeature	hp	UMLS:C4022393			http://purl.obolibrary.org/obo/HP_0045034	An increased amount of 3-aminoisobutyric acid in the urine.
HP:0045035	Decreased urinary copper concentration	biolink:PhenotypicFeature	hp	UMLS:C4073164		Decreased urinary copper concentration	http://purl.obolibrary.org/obo/HP_0045035	
HP:0045036	Abnormal urinary copper concentration	biolink:PhenotypicFeature	hp	UMLS:C4073165		Abnormal urinary copper concentration	http://purl.obolibrary.org/obo/HP_0045036	
HP:0045037	Abnormality of jaw muscles	biolink:PhenotypicFeature	hp	UMLS:C4073166		Abnormality of jaw muscles	http://purl.obolibrary.org/obo/HP_0045037	
HP:0045038	Gastric lymphoma	biolink:PhenotypicFeature	hp	MSH:C535648|SNOMEDCT_US:276811008|UMLS:C0349532		Primary gastric lymphoma	http://purl.obolibrary.org/obo/HP_0045038	Lymphoma that originates in the stomach itself.
HP:0045039	Osteolysis involving bones of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4073167			http://purl.obolibrary.org/obo/HP_0045039	
HP:0045040	Abnormal lactate dehydrogenase level	biolink:PhenotypicFeature	hp	UMLS:C4073168			http://purl.obolibrary.org/obo/HP_0045040	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	biolink:PhenotypicFeature	hp	MSH:C563641|UMLS:C3279904			http://purl.obolibrary.org/obo/HP_0045041	A decreased or reduced level of the enzyme lactate dehydrogenase in serum.
HP:0045042	Decreased serum complement C4	biolink:PhenotypicFeature	hp	UMLS:C4073169		Decreased serum complement C4 level	http://purl.obolibrary.org/obo/HP_0045042	A reduced level of the complement component C4 in the circulation.
HP:0045043	Decreased serum complement C4a	biolink:PhenotypicFeature	hp	UMLS:C4073170		C4a deficiency|Complement component 4A deficiency	http://purl.obolibrary.org/obo/HP_0045043	A reduced level of the complement component C4a in circulation.
HP:0045044	Decreased serum complement C4b	biolink:PhenotypicFeature	hp	UMLS:C3280641		C4b deficiency|Complement component 4B deficiency	http://purl.obolibrary.org/obo/HP_0045044	A reduced level of the complement component C4b in circulation.
HP:0045045	Elevated circulating acylcarnitine concentration	biolink:PhenotypicFeature	hp	UMLS:C4073171		Elevated plasma acylcarnitine levels	http://purl.obolibrary.org/obo/HP_0045045	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 level	biolink:PhenotypicFeature	hp	UMLS:C3900122		Acid-labile subunit deficiency|Decreased levels of acid labile subunit	http://purl.obolibrary.org/obo/HP_0045046	Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.
HP:0045047	HbS hemoglobin	biolink:PhenotypicFeature	hp	MSH:D006451|SNOMEDCT_US:50095005|UMLS:C0019043		HbS haemoglobin	http://purl.obolibrary.org/obo/HP_0045047	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	biolink:PhenotypicFeature	hp	UMLS:C4073172		Increased HbA2 haemoglobin|Increased hemoglobin A2	http://purl.obolibrary.org/obo/HP_0045048	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	biolink:PhenotypicFeature	hp	UMLS:C4073173		Abnormal TLCO|Abnormal diffusing capacity|Abnormal transfer factor of the lung for carbon monoxide	http://purl.obolibrary.org/obo/HP_0045049	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	biolink:PhenotypicFeature	hp	UMLS:C4073174		Increased diffusing capacity	http://purl.obolibrary.org/obo/HP_0045050	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	biolink:PhenotypicFeature	hp	UMLS:C4073175		Decreased diffusing capacity	http://purl.obolibrary.org/obo/HP_0045051	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	biolink:PhenotypicFeature	hp	UMLS:C4073176			http://purl.obolibrary.org/obo/HP_0045052	Any abnormality of the brachial nerve plexus.
HP:0045053	Abnormality of the lumbosacral nerve plexus	biolink:PhenotypicFeature	hp	UMLS:C4073177			http://purl.obolibrary.org/obo/HP_0045053	Any abnormality of the lumbosacral nerve plexus.
HP:0045054	Brachial plexus neuropathy	biolink:PhenotypicFeature	hp	MSH:D020516|SNOMEDCT_US:3548001|UMLS:C0700251			http://purl.obolibrary.org/obo/HP_0045054	
HP:0045055	Tiger tail banding	biolink:PhenotypicFeature	hp	UMLS:C4073178		Tiger tail banding|Tiger-tail banding	http://purl.obolibrary.org/obo/HP_0045055	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 levels of alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C4073179			http://purl.obolibrary.org/obo/HP_0045056	
HP:0045057	Decreased levels of alpha-fetoprotein	biolink:PhenotypicFeature	hp	UMLS:C4073295			http://purl.obolibrary.org/obo/HP_0045057	A decrease in the concentration of alpha-fetoprotein in the blood circulation.
HP:0045058	Abnormality of the testis size	biolink:PhenotypicFeature	hp	UMLS:C4073180			http://purl.obolibrary.org/obo/HP_0045058	An anomaly of the size of the testicle (the male gonad).
HP:0045059	Hyperkeratotic papule	biolink:PhenotypicFeature	hp	UMLS:C2047516			http://purl.obolibrary.org/obo/HP_0045059	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	biolink:PhenotypicFeature	hp	UMLS:C4073181			http://purl.obolibrary.org/obo/HP_0045060	
HP:0045061	Decreased carnitine level in liver	biolink:PhenotypicFeature	hp	UMLS:C4073182			http://purl.obolibrary.org/obo/HP_0045061	
HP:0045063	Increased PIVKA-II	biolink:PhenotypicFeature	hp	UMLS:C1112467		Increased prothrombin induced by vitamin K absence-II	http://purl.obolibrary.org/obo/HP_0045063	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045073	Inflammation in any serous cavity.
HP:0045074	Thin eyebrow	biolink:PhenotypicFeature	hp			Thin eyebrow|Thin eyebrows	http://purl.obolibrary.org/obo/HP_0045074	Decreased diameter of eyebrow hairs.
HP:0045075	Sparse eyebrow	biolink:PhenotypicFeature	hp			Sparse eyebrow|Sparse eyebrows|Hypotrichosis of eyebrow	http://purl.obolibrary.org/obo/HP_0045075	Decreased density/number of eyebrow hairs.
HP:0045079	Distal femoral metaphyseal irregularity	biolink:PhenotypicFeature	hp			Irregular distal femoral metaphyses	http://purl.obolibrary.org/obo/HP_0045079	Irregularity of the normally smooth surface of the distal metaphysis of the femur.
HP:0045080	Decreased proportion of CD3-positive T cells	biolink:PhenotypicFeature	hp			Decreased proportion of CD3+ T cells	http://purl.obolibrary.org/obo/HP_0045080	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	biolink:PhenotypicFeature	hp			Abnormal BMI|Abnormal body mass index	http://purl.obolibrary.org/obo/HP_0045081	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	biolink:PhenotypicFeature	hp			Decreased BMI	http://purl.obolibrary.org/obo/HP_0045082	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:0045083	obsolete Increased body mass index	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045083	
HP:0045084	Limb myoclonus	biolink:PhenotypicFeature	hp			Myoclonus of limbs	http://purl.obolibrary.org/obo/HP_0045084	
HP:0045085	Atrophy of masseter muscle	biolink:PhenotypicFeature	hp			Atrophied masseter muscle|Masseter muscle atrophy	http://purl.obolibrary.org/obo/HP_0045085	
HP:0045086	Knee joint hypermobility	biolink:PhenotypicFeature	hp			Knee joint over-flexibility	http://purl.obolibrary.org/obo/HP_0045086	The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).
HP:0045088	Clinical relevance	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045088	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045089	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045090	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0046502	Inability of individual to reach orgasm.
HP:0046503	Increased libido	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0046503	Elevated sexual desire.
HP:0046504	Decreased libido	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0046504	Decreased sexual desire.
HP:0046505	Hand pain	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0046505	An unpleasant sensation characterized by physical discomfort localized to the hand.
HP:0046506	Pain in head and neck region	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0046506	
HP:0046507	Bradypnea	biolink:PhenotypicFeature	hp	SNOMED_CT:86684002			http://purl.obolibrary.org/obo/HP_0046507	Bradypnea is referring to breathing that is abnormally slow.
HP:0046508	Abnormal cervical spine morphology	biolink:PhenotypicFeature	hp	SNOMED_CT:298391004			http://purl.obolibrary.org/obo/HP_0046508	Any morphological abnormality of the cervical vertebral column.
HP:0100000	Early onset of sexual maturation	biolink:PhenotypicFeature	hp	UMLS:C4022392		Early onset of sexual maturation	http://purl.obolibrary.org/obo/HP_0100000	An early onset of puberty, in this case early does not refer to precocious.
HP:0100001	Malignant mesothelioma	biolink:PhenotypicFeature	hp	MSH:C562839|SNOMEDCT_US:62064005|UMLS:C0345967			http://purl.obolibrary.org/obo/HP_0100001	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	biolink:PhenotypicFeature	hp	NCIT:C3234|SNOMEDCT_US:254645002|UMLS:C0812413			http://purl.obolibrary.org/obo/HP_0100002	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	biolink:PhenotypicFeature	hp	NCIT:C3234|SNOMEDCT_US:109853004|UMLS:C0346109			http://purl.obolibrary.org/obo/HP_0100003	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	biolink:PhenotypicFeature	hp	NCIT:C3234|UMLS:C1335381			http://purl.obolibrary.org/obo/HP_0100004	A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).
HP:0100005	Testicular mesothelioma	biolink:PhenotypicFeature	hp	NCIT:C3234|UMLS:C4022391			http://purl.obolibrary.org/obo/HP_0100005	A Malignant mesothelioma of the testis.
HP:0100006	Neoplasm of the central nervous system	biolink:PhenotypicFeature	hp	MSH:D016543|NCIT:C3262|SNOMEDCT_US:126951006|UMLS:C0085136		Neoplasm of the CNS|Tumors of the central nervous system|Neoplasia of the central nervous system	http://purl.obolibrary.org/obo/HP_0100006	A neoplasm of the central nervous system.
HP:0100007	Neoplasm of the peripheral nervous system	biolink:PhenotypicFeature	hp	MSH:D010524|NCIT:C3262|SNOMEDCT_US:126980002|UMLS:C0031118		Tumor of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0100007	A benign or malignant neoplasm (tumour) of the peripheral nervous system.
HP:0100008	Schwannoma	biolink:PhenotypicFeature	hp	MSH:D009442|SNOMEDCT_US:404022001|SNOMEDCT_US:985004|UMLS:C0027809		Neurilemmoma|Neurinoma|Neurolemmoma|Schwann cell tumor|Schwann cell tumour|Schwannomas	http://purl.obolibrary.org/obo/HP_0100008	A benign nerve sheath tumor composed of Schwann cells.
HP:0100009	Intracranial meningioma	biolink:PhenotypicFeature	hp	MSH:D008579|SNOMEDCT_US:302820008|UMLS:C0349604			http://purl.obolibrary.org/obo/HP_0100009	
HP:0100010	Spinal meningioma	biolink:PhenotypicFeature	hp	MSH:D008579|NCIT:C3230|SNOMEDCT_US:189167009|UMLS:C0347515			http://purl.obolibrary.org/obo/HP_0100010	
HP:0100011	Scleral schwannoma	biolink:PhenotypicFeature	hp	NCIT:C3269|UMLS:C4022390			http://purl.obolibrary.org/obo/HP_0100011	
HP:0100012	Neoplasm of the eye	biolink:PhenotypicFeature	hp	MSH:D005134|NCIT:C3262|SNOMEDCT_US:371486001|UMLS:C0015414		Eye tumor|Neoplasia of the eye	http://purl.obolibrary.org/obo/HP_0100012	A tumor (abnormal growth of tissue) of the eye.
HP:0100013	Neoplasm of the breast	biolink:PhenotypicFeature	hp	MSH:D001943|NCIT:C3262|SNOMEDCT_US:126926005|UMLS:C1458155		Breast tumor|Tumours of the breast|Neoplasia of the breast	http://purl.obolibrary.org/obo/HP_0100013	A tumor (abnormal growth of tissue) of the breast.
HP:0100014	Epiretinal membrane	biolink:PhenotypicFeature	hp	MSH:D019773|SNOMEDCT_US:133853005|SNOMEDCT_US:367649002|UMLS:C0339543		Macular pucker|Premacular fibrosis|Epiretinal membranes	http://purl.obolibrary.org/obo/HP_0100014	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253252004|UMLS:C1862689		Additional crus|Third crus	http://purl.obolibrary.org/obo/HP_0100015	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	biolink:PhenotypicFeature	hp	UMLS:C4022389		Abnormality of the mesentery	http://purl.obolibrary.org/obo/HP_0100016	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204125003|UMLS:C0339352			http://purl.obolibrary.org/obo/HP_0100017	A cataract that affects the capsule of the lens.
HP:0100018	Nuclear cataract	biolink:PhenotypicFeature	hp	SNOMEDCT_US:53889007|UMLS:C0392557	hposlim_core	Yellowish cloudy center of lens	http://purl.obolibrary.org/obo/HP_0100018	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:193576003|UMLS:C0271160	hposlim_core		http://purl.obolibrary.org/obo/HP_0100019	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	biolink:PhenotypicFeature	hp	UMLS:C4022388			http://purl.obolibrary.org/obo/HP_0100020	A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.
HP:0100021	Cerebral palsy	biolink:PhenotypicFeature	hp	MSH:D002547|SNOMEDCT_US:128188000|UMLS:C0007789		CP|Cerebral paralysis	http://purl.obolibrary.org/obo/HP_0100021	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	biolink:PhenotypicFeature	hp	MSH:D009069|SNOMEDCT_US:60342002|UMLS:C0026650		Abnormality of movement|Movement disorder|Unusual movement	http://purl.obolibrary.org/obo/HP_0100022	An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
HP:0100023	Recurrent hand flapping	biolink:PhenotypicFeature	hp	UMLS:C4022387			http://purl.obolibrary.org/obo/HP_0100023	A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.
HP:0100024	Conspicuously happy disposition	biolink:PhenotypicFeature	hp	UMLS:C4021029		Conspicious happy aspect|Happy aspect	http://purl.obolibrary.org/obo/HP_0100024	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	biolink:PhenotypicFeature	hp	UMLS:C4022386		Overfriendliness	http://purl.obolibrary.org/obo/HP_0100025	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	biolink:PhenotypicFeature	hp	MSH:D001165|SNOMEDCT_US:234141001|SNOMEDCT_US:24551003|UMLS:C0003857			http://purl.obolibrary.org/obo/HP_0100026	An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
HP:0100027	Recurrent pancreatitis	biolink:PhenotypicFeature	hp	MSH:D050500|SNOMEDCT_US:233870001|SNOMEDCT_US:234689009|SNOMEDCT_US:235494005|UMLS:C0149521		Recurring pancreas inflammation|Recurring pancreatitis	http://purl.obolibrary.org/obo/HP_0100027	A recurrent form of pancreatitis.
HP:0100028	Ectopic thyroid	biolink:PhenotypicFeature	hp	MSH:D050033|SNOMEDCT_US:214660000|UMLS:C0266283		Abnormal thryoid location|Aberrant thyroid|Aberrant thyroid gland|Ectopic thyroid gland|Heteropic thyroid gland	http://purl.obolibrary.org/obo/HP_0100028	Mislocalised thyroid gland.
HP:0100029	Lingual thyroid	biolink:PhenotypicFeature	hp	MSH:D046151|SNOMEDCT_US:129123002|SNOMEDCT_US:21279007|UMLS:C0266284			http://purl.obolibrary.org/obo/HP_0100029	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	biolink:PhenotypicFeature	hp	UMLS:C4022385			http://purl.obolibrary.org/obo/HP_0100030	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	biolink:PhenotypicFeature	hp	MSH:D013964|NCIT:C3262|SNOMEDCT_US:127018007|UMLS:C0040136		Neoplasia of the thyroid gland	http://purl.obolibrary.org/obo/HP_0100031	A tumor (abnormal growth of tissue) of the thyroid gland.
HP:0100033	Tics	biolink:PhenotypicFeature	hp	UMLS:C2169806		Tic disorder|Tics	http://purl.obolibrary.org/obo/HP_0100033	Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.
HP:0100034	Motor tics	biolink:PhenotypicFeature	hp	MSH:D020323|UMLS:C0751900			http://purl.obolibrary.org/obo/HP_0100034	Movement-based tics affecting discrete muscle groups.
HP:0100035	Phonic tics	biolink:PhenotypicFeature	hp	MSH:D020323|UMLS:C0751901		Verbal tics|Vocal tics	http://purl.obolibrary.org/obo/HP_0100035	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	biolink:PhenotypicFeature	hp	UMLS:C4021028		Looser zones	http://purl.obolibrary.org/obo/HP_0100036	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	biolink:PhenotypicFeature	hp	UMLS:C4022384		Abnormality of the scalp hair	http://purl.obolibrary.org/obo/HP_0100037	An abnormality of the hair of head.
HP:0100038	Slow-growing scalp hair	biolink:PhenotypicFeature	hp	UMLS:C4022383		Slow-growing scalp hair	http://purl.obolibrary.org/obo/HP_0100038	Scalp hair whose growth is slower than normal.
HP:0100039	Thickened cortex of bones	biolink:PhenotypicFeature	hp	UMLS:C4022382			http://purl.obolibrary.org/obo/HP_0100039	An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.
HP:0100040	Broad 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022381		Wide 2nd toe	http://purl.obolibrary.org/obo/HP_0100040	A broad appearance of the second toe.
HP:0100041	Broad 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022380		Broad 3rd toe|Wide 3rd toe	http://purl.obolibrary.org/obo/HP_0100041	A broad appearance of the third toe.
HP:0100042	Broad 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022379		Broad 4th toe|Wide 4th toe	http://purl.obolibrary.org/obo/HP_0100042	A broad appearance of the fourth toe.
HP:0100043	Broad 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022378		Broad 5th toe|Broad little toe|Broad pinkie toe|Broad pinky toe	http://purl.obolibrary.org/obo/HP_0100043	A broad appearance of the fifth toe.
HP:0100044	Absent epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022377		Absent end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100044	
HP:0100045	Bracket epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022376		Bracket shaped end part of 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100045	
HP:0100046	Cone-shaped epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022375		Cone-shaped end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100046	
HP:0100047	Enlarged epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022374		Enlarged end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100047	
HP:0100048	Fragmentation of the epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022373		Fragmentation of the end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100048	
HP:0100049	Irregular epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022372		Irregular end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100049	
HP:0100050	Ivory epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022371		Increased bone density of end part of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100050	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	biolink:PhenotypicFeature	hp	UMLS:C4022370			http://purl.obolibrary.org/obo/HP_0100051	
HP:0100052	Small epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022369		Small end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100052	
HP:0100053	Stippling of the epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022368		Speckled calcifications in the end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100053	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.
HP:0100054	Triangular epiphyses of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022367		Triangular end part of the 2nd toe bone	http://purl.obolibrary.org/obo/HP_0100054	
HP:0100055	Absent epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022366		Absent end part of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100055	
HP:0100056	Bracket epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022365		Bracket shaped end part of 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100056	
HP:0100057	Cone-shaped epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022364		Cone-shaped end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100057	
HP:0100058	Enlarged epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022363		Enlarged end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100058	
HP:0100059	Fragmentation of the epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022362		Fragmentation of the end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100059	
HP:0100060	Irregular epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022361		Irregular end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100060	
HP:0100061	Ivory epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022360		Increased bone density of end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100061	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	biolink:PhenotypicFeature	hp	UMLS:C4022359			http://purl.obolibrary.org/obo/HP_0100062	
HP:0100063	Small epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022358		Small end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100063	
HP:0100064	Stippling of the epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022357		Speckled calcifications in the end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100064	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.
HP:0100065	Triangular epiphyses of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022356		Triangular end part of the 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100065	
HP:0100066	Absent epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022355		Absent end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100066	
HP:0100067	Bracket epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022354		Bracket shaped end part of 4th toe bone	http://purl.obolibrary.org/obo/HP_0100067	
HP:0100068	Cone-shaped epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022353		Cone-shaped end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100068	
HP:0100069	Enlarged epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022352		Enlarged end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100069	
HP:0100070	Fragmentation of the epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022351		Fragmentation of the end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100070	
HP:0100071	Irregular epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022350		Irregular end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100071	
HP:0100072	Ivory epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022349		Increased bone density of end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100072	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	biolink:PhenotypicFeature	hp	UMLS:C4022348			http://purl.obolibrary.org/obo/HP_0100073	
HP:0100074	Small epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022347		Small end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100074	
HP:0100075	Stippling of the epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022346		Speckled calcifications in the end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100075	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.
HP:0100076	Triangular epiphyses of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022345		Triangular end part of the 4th toe bone	http://purl.obolibrary.org/obo/HP_0100076	
HP:0100077	Absent epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022344		Absent end part of the little toe bone|Absent end part of the pinkie toe bone|Absent end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100077	
HP:0100078	Bracket epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022343		Bracket shaped end part of little toe bone|Bracket shaped end part of pinkie toe bone|Bracket shaped end part of pinky toe bone	http://purl.obolibrary.org/obo/HP_0100078	
HP:0100079	Cone-shaped epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022342		Cone-shaped end part of the little toe bone|Cone-shaped end part of the pinkie toe bone|Cone-shaped end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100079	
HP:0100080	Enlarged epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022341		Enlarged end part of the little toe bone|Enlarged end part of the pinkie toe bone|Enlarged end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100080	
HP:0100081	Fragmentation of the epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022340		Fragmentation of the end part of the little toe bone|Fragmentation of the end part of the pinkie toe bone|Fragmentation of the end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100081	
HP:0100082	Irregular epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022339		Irregular end part of the little toe bone|Irregular end part of the pinkie toe bone|Irregular end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100082	
HP:0100083	Ivory epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022338		Increased bone density of end part of the little toe bone|Increased bone density of end part of the pinkie toe bone|Increased bone density of end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100083	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	biolink:PhenotypicFeature	hp	UMLS:C4022337			http://purl.obolibrary.org/obo/HP_0100084	
HP:0100085	Small epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022336		Small end part of the little toe bone|Small end part of the pinkie toe bone|Small end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100085	
HP:0100086	Stippling of the epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022335		Speckled calcifications in the end part of the little toe bone|Speckled calcifications in the end part of the pinkie toe bone|Speckled calcifications in the end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100086	The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.
HP:0100087	Triangular epiphyses of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022334		Triangular end part of the little toe bone|Triangular end part of the pinkie toe bone|Triangular end part of the pinky toe bone	http://purl.obolibrary.org/obo/HP_0100087	
HP:0100088	Abnormality of the epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022333		Abnormality of the end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100088	
HP:0100089	Abnormality of the epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022332		Abnormality of the end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100089	
HP:0100090	Abnormality of the epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022331		Abnormality of the end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100090	
HP:0100091	Abnormality of the epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022330		Abnormality of the end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100091	
HP:0100092	Abnormality of the epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022329		Abnormality of the end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100092	
HP:0100093	Abnormality of the epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022328		Abnormality of the end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100093	
HP:0100094	Abnormality of the epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022327		Abnormality of the end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100094	
HP:0100095	Abnormality of the epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022326		Abnormality of the end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100095	
HP:0100096	Abnormality of the epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022325		Abnormality of the end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100096	
HP:0100097	Abnormality of the epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022324		Abnormality of the end part of the outermost bone of the little toe|Abnormality of the end part of the outermost bone of the pinkie toe|Abnormality of the end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100097	
HP:0100098	Abnormality of the epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022323		Abnormality of the end part of the middle bone of the little toe|Abnormality of the end part of the middle bone of the pinkie toe|Abnormality of the end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100098	
HP:0100099	Abnormality of the epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022322		Abnormality of the end part of the innermost bone of the little toe|Abnormality of the end part of the innermost bone of the pinkie toe|Abnormality of the end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100099	
HP:0100100	Absent epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022321		Absent end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100100	
HP:0100101	Bracket epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022320		Bracket shaped end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100101	
HP:0100102	Cone-shaped epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022319		Cone-shaped end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100102	
HP:0100103	Enlarged epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022318		Enlarged end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100103	
HP:0100104	Fragmentation of the epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022317		Fragmentation of the end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100104	
HP:0100105	Irregular epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022316		Irregular end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100105	
HP:0100106	Ivory epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022315		Increased bone density of end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100106	
HP:0100107	Pseudoepiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022314			http://purl.obolibrary.org/obo/HP_0100107	
HP:0100108	Small epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022313		Small end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100108	
HP:0100109	Stippling of the epiphysis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022312		Speckled calcifications in the end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100109	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	biolink:PhenotypicFeature	hp	UMLS:C4022311		Triangular end part of the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100110	
HP:0100111	Absent epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022310		Absent end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100111	
HP:0100112	Bracket epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022309		Bracket shaped end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100112	
HP:0100113	Cone-shaped epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022308		Cone-shaped end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100113	
HP:0100114	Enlarged epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022307		Enlarged end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100114	
HP:0100115	Fragmentation of the epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022306		Fragmentation of the end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100115	
HP:0100116	Irregular epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022305		Irregular end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100116	
HP:0100117	Ivory epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022304		Increased bone density of end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100117	
HP:0100118	Pseudoepiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022303			http://purl.obolibrary.org/obo/HP_0100118	
HP:0100119	Small epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022302		Small end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100119	
HP:0100120	Stippling of the epiphysis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022301		Speckled calcifications in of the end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100120	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	biolink:PhenotypicFeature	hp	UMLS:C4022300		Triangular end part of the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100121	
HP:0100122	Absent epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022299		Absent end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100122	
HP:0100123	Bracket epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022298		Bracket shaped end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100123	
HP:0100124	Cone-shaped epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022297		Cone-shaped end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100124	
HP:0100125	Enlarged epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022296		Enlarged end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100125	
HP:0100126	Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022295		Fragmentation of the end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100126	
HP:0100127	Irregular epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022294		Irregular end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100127	
HP:0100128	Ivory epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022293		Increased bone density of end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100128	
HP:0100129	Pseudoepiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022292			http://purl.obolibrary.org/obo/HP_0100129	
HP:0100130	Small epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022291		Small end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100130	
HP:0100131	Stippling of the epiphysis of the proximal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022290		Speckled calcifications in the end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100131	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	biolink:PhenotypicFeature	hp	UMLS:C4022289		Triangular end part of the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100132	
HP:0100133	Abnormality of the pubic hair	biolink:PhenotypicFeature	hp	UMLS:C4022288		Abnormality of the pubic hair	http://purl.obolibrary.org/obo/HP_0100133	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	biolink:PhenotypicFeature	hp	UMLS:C4022287			http://purl.obolibrary.org/obo/HP_0100134	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	biolink:PhenotypicFeature	hp	UMLS:C4022286		Absent end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100135	
HP:0100136	Bracket epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022285		Bracket shaped end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100136	
HP:0100137	Cone-shaped epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022284		Cone-shaped end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100137	
HP:0100138	Enlarged epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022283		Enlarged end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100138	
HP:0100139	Fragmentation of the epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022282		Fragmentation of the end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100139	
HP:0100140	Irregular epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022281		Irregular end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100140	
HP:0100141	Ivory epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022280		Increased bone density of end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100141	
HP:0100142	Pseudoepiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022279			http://purl.obolibrary.org/obo/HP_0100142	
HP:0100143	Small epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022278		Small end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100143	
HP:0100144	Stippling of the epiphysis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022277		Speckled calcifications in the end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100144	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	biolink:PhenotypicFeature	hp	UMLS:C4022276		Triangular end part of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100145	
HP:0100146	Absent epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022275		Absent end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100146	
HP:0100147	Bracket epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022274		Bracket shaped end part of the middle bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100147	
HP:0100148	Cone-shaped epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022273		Cone-shaped end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100148	
HP:0100149	Enlarged epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022272		Enlarged end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100149	
HP:0100150	Fragmentation of the epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022271		Fragmentation of the end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100150	
HP:0100151	Irregular epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022270		Irregular end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100151	
HP:0100152	Ivory epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022269		Increased bone density of end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100152	
HP:0100153	Pseudoepiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022268			http://purl.obolibrary.org/obo/HP_0100153	
HP:0100154	Small epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022267		Small end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100154	
HP:0100155	Stippling of the epiphysis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022266		Speckled calcifications in the end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100155	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	biolink:PhenotypicFeature	hp	UMLS:C4022265		Triangular end part of the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100156	
HP:0100157	Absent epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022264		Absent end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100157	
HP:0100158	Bracket epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022263		Bracket shaped end part of the innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100158	
HP:0100159	Cone-shaped epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022262		Cone-shaped end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100159	
HP:0100160	Enlarged epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022261		Enlarged end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100160	
HP:0100161	Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022260		Fragmentation of the end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100161	
HP:0100162	Irregular epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022259		Irregular end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100162	
HP:0100163	Ivory epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022258		Increased bone density of end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100163	
HP:0100164	Pseudoepiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022257			http://purl.obolibrary.org/obo/HP_0100164	
HP:0100165	Small epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022256		Small end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100165	
HP:0100166	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022255		Speckled calcifications in of the end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100166	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	biolink:PhenotypicFeature	hp	UMLS:C4022254		Triangular end part of the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100167	
HP:0100168	Fragmented epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4022253		Fragmented end part of bone	http://purl.obolibrary.org/obo/HP_0100168	Fragmented appearance of the epiphyses.
HP:0100169	Absent epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022252		Absent end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100169	
HP:0100170	Bracket epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022251		Bracket shaped end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100170	
HP:0100171	Cone-shaped epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022250		Cone-shaped end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100171	
HP:0100172	Enlarged epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022249		Enlarged end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100172	
HP:0100173	Fragmentation of the epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022248		Fragmentation of the end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100173	
HP:0100174	Irregular epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022247		Irregular end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100174	
HP:0100175	Ivory epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022246		Increased bone density of end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100175	
HP:0100176	Pseudoepiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022245			http://purl.obolibrary.org/obo/HP_0100176	
HP:0100177	Small epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022244		Small end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100177	
HP:0100178	Stippling of the epiphysis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022243		Speckled calcifications in the end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100178	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	biolink:PhenotypicFeature	hp	UMLS:C4022242		Triangular end part of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100179	
HP:0100180	Absent epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022241		Absent end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100180	
HP:0100181	Bracket epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022240		Bracket shaped end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100181	
HP:0100182	Cone-shaped epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022239		Cone-shaped end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100182	
HP:0100183	Enlarged epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022238		Enlarged end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100183	
HP:0100184	Fragmentation of the epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022237		Fragmentation of the end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100184	
HP:0100185	Irregular epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022236		Irregular end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100185	
HP:0100186	Ivory epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022235		Increased bone density of end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100186	
HP:0100187	Pseudoepiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022234			http://purl.obolibrary.org/obo/HP_0100187	
HP:0100188	Small epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022233		Small end part of middle long bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100188	
HP:0100189	Stippling of the epiphysis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022232		Speckled calcifications in the end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100189	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	biolink:PhenotypicFeature	hp	UMLS:C4022231		Triangular end part of the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100190	
HP:0100191	Absent epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022230		Absent end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100191	
HP:0100192	Bracket epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022229		Bracket shaped end part of the innermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100192	
HP:0100193	Cone-shaped epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022228		Cone-shaped end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100193	
HP:0100194	Enlarged epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022227		Enlarged end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100194	
HP:0100195	Fragmentation of the epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022226		Fragmentation of the end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100195	
HP:0100196	Irregular epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022225		Irregular end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100196	
HP:0100197	Ivory epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022224		Increased bone density of end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100197	
HP:0100198	Pseudoepiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022223			http://purl.obolibrary.org/obo/HP_0100198	
HP:0100199	Small epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022222		Small end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100199	
HP:0100200	Stippling of the epiphysis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022221		Speckled calcifications in the end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100200	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	biolink:PhenotypicFeature	hp	UMLS:C4022220		Triangular end part of the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100201	
HP:0100202	Absent epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022219		Absent end part of the outermost bone of the little toe|Absent end part of the outermost bone of the pinkie toe|Absent end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100202	
HP:0100203	Bracket epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022218		Bracket shaped end part of the outermost bone of the little toe|Bracket shaped end part of the outermost bone of the pinkie toe|Bracket shaped end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100203	
HP:0100204	Cone-shaped epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022217		Cone-shaped end part of the outermost bone of the little toe|Cone-shaped end part of the outermost bone of the pinkie toe|Cone-shaped end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100204	
HP:0100205	Enlarged epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022216		Enlarged end part of the outermost bone of the little toe|Enlarged end part of the outermost bone of the pinkie toe|Enlarged end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100205	
HP:0100206	Fragmentation of the epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022215		Fragmentation of the end part of the outermost bone of the little toe|Fragmentation of the end part of the outermost bone of the pinkie toe|Fragmentation of the end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100206	
HP:0100207	Irregular epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022214		Irregular end part of the outermost bone of the little toe|Irregular end part of the outermost bone of the pinkie toe|Irregular end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100207	
HP:0100208	Ivory epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022213		Increased bone density of end part of the outermost bone of the little toe|Increased bone density of end part of the outermost bone of the pinkie toe|Increased bone density of end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100208	
HP:0100209	Pseudoepiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022212			http://purl.obolibrary.org/obo/HP_0100209	
HP:0100210	Small epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022211		Small end part of the outermost bone of the little toe|Small end part of the outermost bone of the pinkie toe|Small end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100210	
HP:0100211	Stippling of the epiphysis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022210		Speckled calcifications in the end part of the outermost bone of the little toe|Speckled calcifications in the end part of the outermost bone of the pinkie toe|Speckled calcifications in the end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100211	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	biolink:PhenotypicFeature	hp	UMLS:C4022209		Triangular end part of the outermost bone of the little toe|Triangular end part of the outermost bone of the pinkie toe|Triangular end part of the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100212	
HP:0100213	Absent epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022208		Absent end part of the middle bone of the little toe|Absent end part of the middle bone of the pinkie toe|Absent end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100213	
HP:0100214	Bracket epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022207		Bracket shaped end part of the middle bone of the little toe|Bracket shaped end part of the middle bone of the pinkie toe|Bracket shaped end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100214	
HP:0100215	Cone-shaped epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022206		Cone-shaped end part of the middle bone of the little toe|Cone-shaped end part of the middle bone of the pinkie toe|Cone-shaped end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100215	
HP:0100216	Enlarged epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022205		Enlarged end part of the middle bone of the little toe|Enlarged end part of the middle bone of the pinkie toe|Enlarged end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100216	
HP:0100217	Fragmentation of the epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022204		Fragmentation of the end part of the middle bone of the little toe|Fragmentation of the end part of the middle bone of the pinkie toe|Fragmentation of the end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100217	
HP:0100218	Irregular epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022203		Irregular end part of the middle bone of the little toe|Irregular end part of the middle bone of the pinkie toe|Irregular end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100218	
HP:0100219	Ivory epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022202		Increased bone density of end part of the middle bone of the little toe|Increased bone density of end part of the middle bone of the pinkie toe|Increased bone density of end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100219	
HP:0100220	Pseudoepiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022201			http://purl.obolibrary.org/obo/HP_0100220	
HP:0100221	Small epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022200		Small end part of the middle bone of the little toe|Small end part of the middle bone of the pinkie toe|Small end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100221	
HP:0100222	Stippling of the epiphysis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022199		Speckled calcifications in end part of the innermost bone of the pinkie toe|Speckled calcifications in middle part of the innermost bone of the little toe|Speckled calcifications in middle part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100222	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	biolink:PhenotypicFeature	hp	UMLS:C4022198		Triangular end part of the middle bone of the little toe|Triangular end part of the middle bone of the pinkie toe|Triangular end part of the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100223	
HP:0100224	Absent epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022197		Absent end part of the innermost bone of the little toe|Absent end part of the innermost bone of the pinkie toe|Absent end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100224	
HP:0100225	Bracket epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022196		Bracket shaped end part of the innermost bone of the little toe|Bracket shaped end part of the innermost bone of the pinkie toe|Bracket shaped end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100225	
HP:0100226	Cone-shaped epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022195		Cone-shaped end part of the innermost bone of the little toe|Cone-shaped end part of the innermost bone of the pinkie toe|Cone-shaped end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100226	
HP:0100227	Enlarged epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022194		Enlarged end part of the innermost bone of the little toe|Enlarged end part of the innermost bone of the pinkie toe|Enlarged end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100227	
HP:0100228	Fragmentation of the epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022193		Fragmentation of the end part of the innermost bone of the little toe|Fragmentation of the end part of the innermost bone of the pinkie toe|Fragmentation of the end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100228	
HP:0100229	Irregular epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022192		Irregular end part of the innermost bone of the little toe|Irregular end part of the innermost bone of the pinkie toe|Irregular end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100229	
HP:0100230	Ivory epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022191		Increased bone density of end part of the innermost bone of the little toe|Increased bone density of end part of the innermost bone of the pinkie toe|Increased bone density of end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100230	
HP:0100231	Pseudoepiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022190			http://purl.obolibrary.org/obo/HP_0100231	
HP:0100232	Small epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022189		Small end part of the innermost bone of the little toe|Small end part of the innermost bone of the pinkie toe|Small end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100232	
HP:0100233	Stippling of the epiphysis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022188		Speckled calcifications in the end part of the innermost bone of the little toe|Speckled calcifications in the end part of the innermost bone of the pinkie toe|Speckled calcifications in the end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100233	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	biolink:PhenotypicFeature	hp	UMLS:C4022187		Triangular end part of the innermost bone of the little toe|Triangular end part of the innermost bone of the pinkie toe|Triangular end part of the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100234	
HP:0100235	Synostosis involving bones of the toes	biolink:PhenotypicFeature	hp	UMLS:C4022186		Fusion involving bones of the toes	http://purl.obolibrary.org/obo/HP_0100235	
HP:0100237	Proximal foot symphalangism	biolink:PhenotypicFeature	hp	UMLS:C4022185			http://purl.obolibrary.org/obo/HP_0100237	
HP:0100238	Synostosis involving bones of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C4022184		Fusion involving bones of the upper limbs	http://purl.obolibrary.org/obo/HP_0100238	An abnormal union between bones or parts of bones of the upper limbs.
HP:0100240	Synostosis of joints	biolink:PhenotypicFeature	hp	UMLS:C4022183		Fusion of joints|Bony ankylosis	http://purl.obolibrary.org/obo/HP_0100240	The abnormal fusion of neighboring bones across a joint.
HP:0100241	Ectopic respiratory mucosa	biolink:PhenotypicFeature	hp	UMLS:C4022182			http://purl.obolibrary.org/obo/HP_0100241	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	biolink:PhenotypicFeature	hp	MSH:D012509|NCIT:C9118|SNOMEDCT_US:2424003|SNOMEDCT_US:269469005|SNOMEDCT_US:424413001|SNOMEDCT_US:424952003|UMLS:C1261473		Cancer of connective tissue|Malignant connective tissue tumor	http://purl.obolibrary.org/obo/HP_0100242	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	biolink:PhenotypicFeature	hp	MSH:D007890|NCIT:C3158|SNOMEDCT_US:443719001|SNOMEDCT_US:51549004|UMLS:C0023269			http://purl.obolibrary.org/obo/HP_0100243	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	biolink:PhenotypicFeature	hp	MSH:D005354|NCIT:C6605|SNOMEDCT_US:443250000|SNOMEDCT_US:53654007|UMLS:C0016057			http://purl.obolibrary.org/obo/HP_0100244	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	biolink:PhenotypicFeature	hp	MSH:D018222|NCIT:C3042|SNOMEDCT_US:399994005|SNOMEDCT_US:400055004|SNOMEDCT_US:47284001|UMLS:C0079218		Desmoid tumours	http://purl.obolibrary.org/obo/HP_0100245	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	biolink:PhenotypicFeature	hp	MSH:D010016|NCIT:C3296|SNOMEDCT_US:302858007|SNOMEDCT_US:83612000|UMLS:C0029440			http://purl.obolibrary.org/obo/HP_0100246	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	biolink:PhenotypicFeature	hp	MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0019521|UMLS:C0744897		Recurrent hiccup|Hiccup|Recurrent hiccough|Recurrent synchronous diaphragmatic flutter|Hiccups	http://purl.obolibrary.org/obo/HP_0100247	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	biolink:PhenotypicFeature	hp	MSH:D020820|SNOMEDCT_US:66637005|UMLS:C0221169		Ballismus	http://purl.obolibrary.org/obo/HP_0100248	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:446993003|UMLS:C2960760		Skeletal muscle calcinosis	http://purl.obolibrary.org/obo/HP_0100249	Deposition of calcium salts in muscle tissue.
HP:0100250	Meningeal calcification	biolink:PhenotypicFeature	hp	UMLS:C4022181			http://purl.obolibrary.org/obo/HP_0100250	Calcium deposition affecting the Meninges.
HP:0100251	Multiple central nervous system lipomas	biolink:PhenotypicFeature	hp	NCIT:C3192|UMLS:C4022180		Lipomas of the central nervous system	http://purl.obolibrary.org/obo/HP_0100251	The presence of mulitple lipomas located in the central nervous system.
HP:0100252	Diaphyseal dysplasia	biolink:PhenotypicFeature	hp	MSH:D003966|SNOMEDCT_US:318761000119105|SNOMEDCT_US:34643004|UMLS:C0011989			http://purl.obolibrary.org/obo/HP_0100252	
HP:0100253	Abnormality of the medullary cavity of the long bones	biolink:PhenotypicFeature	hp	UMLS:C4021027		Abnormality of the marrow cavity of the long bones	http://purl.obolibrary.org/obo/HP_0100253	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	biolink:PhenotypicFeature	hp	UMLS:C4022179			http://purl.obolibrary.org/obo/HP_0100254	
HP:0100255	Metaphyseal dysplasia	biolink:PhenotypicFeature	hp	MSH:C536252|SNOMEDCT_US:27837003|UMLS:C0265294			http://purl.obolibrary.org/obo/HP_0100255	The presence of dysplastic regions in metaphyseal regions.
HP:0100256	Senile plaques	biolink:PhenotypicFeature	hp	MSH:D058225|SNOMEDCT_US:38551001|UMLS:C0333463		Braindruse|Neuritic plaques|Senile druse	http://purl.obolibrary.org/obo/HP_0100256	Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
HP:0100257	Ectrodactyly	biolink:PhenotypicFeature	hp	MSH:C574275|SNOMEDCT_US:13624003|SNOMEDCT_US:81208006|UMLS:C0265554	hposlim_core	Cleft hand|Lobster claw hand	http://purl.obolibrary.org/obo/HP_0100257	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205135003|UMLS:C0345354		Polydactyly, preaxial	http://purl.obolibrary.org/obo/HP_0100258	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	biolink:PhenotypicFeature	hp	MSH:C562429|UMLS:C0220697		Polydactyly, postaxial|Postaxial hexadactyly	http://purl.obolibrary.org/obo/HP_0100259	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	biolink:PhenotypicFeature	hp	UMLS:C1848595|UMLS:C4020689		Central polydactyly|Intercalary polydactyly|Insertional polydactyly	http://purl.obolibrary.org/obo/HP_0100260	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	biolink:PhenotypicFeature	hp	UMLS:C4021026		Abnormal shape of tendon|Abnormality of the sinew	http://purl.obolibrary.org/obo/HP_0100261	An abnormality of the structure or form of the tendons, also often called sinews.
HP:0100262	Synostosis involving digits	biolink:PhenotypicFeature	hp	UMLS:C4022178		Fusion involving digits	http://purl.obolibrary.org/obo/HP_0100262	
HP:0100263	Distal symphalangism	biolink:PhenotypicFeature	hp	MSH:C566099|UMLS:C1861401		Symphalangism, distal	http://purl.obolibrary.org/obo/HP_0100263	
HP:0100264	Proximal symphalangism	biolink:PhenotypicFeature	hp	MSH:C536223|UMLS:C1861385		Cushing's symphalangism	http://purl.obolibrary.org/obo/HP_0100264	
HP:0100265	Synostosis of metacarpals/metatarsals	biolink:PhenotypicFeature	hp	UMLS:C4022177		Fusion of long bones of hand/long bones of foot	http://purl.obolibrary.org/obo/HP_0100265	
HP:0100266	Synostosis of carpals/tarsals	biolink:PhenotypicFeature	hp	UMLS:C4021025		Wrist bone/ankle bone fusions|Carpal and tarsal fusions|Coalescence of carpal and tarsal bones|Fusion of carpal and tarsal bones	http://purl.obolibrary.org/obo/HP_0100266	The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, 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	biolink:PhenotypicFeature	hp	UMLS:C0341059	hposlim_core		http://purl.obolibrary.org/obo/HP_0100267	A depression located on a lip.
HP:0100268	Upper lip pit	biolink:PhenotypicFeature	hp	UMLS:C4022176			http://purl.obolibrary.org/obo/HP_0100268	Depression located on the vermilion of the upper lip, usually paramedian.
HP:0100269	Paramedian lip pit	biolink:PhenotypicFeature	hp	UMLS:C4022175		Paramedian labial pits	http://purl.obolibrary.org/obo/HP_0100269	Depression located paramedially on the vermilion of a lip.
HP:0100270	Abnormality of dorsoventral patterning of the limbs	biolink:PhenotypicFeature	hp	UMLS:C4022174			http://purl.obolibrary.org/obo/HP_0100270	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	biolink:PhenotypicFeature	hp	UMLS:C4022173			http://purl.obolibrary.org/obo/HP_0100271	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253259008|UMLS:C0266624		Branchial cleft sinus	http://purl.obolibrary.org/obo/HP_0100272	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	biolink:PhenotypicFeature	hp	MSH:D003110|NCIT:C3262|SNOMEDCT_US:126838000|UMLS:C0009375		Colon tumor	http://purl.obolibrary.org/obo/HP_0100273	
HP:0100274	Gustatory lacrimation	biolink:PhenotypicFeature	hp	UMLS:C1862052			http://purl.obolibrary.org/obo/HP_0100274	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	biolink:PhenotypicFeature	hp	UMLS:C1854699			http://purl.obolibrary.org/obo/HP_0100275	Diffuse unlocalised atrophy affecting the cerebellum.
HP:0100276	Skin pit	biolink:PhenotypicFeature	hp	UMLS:C4020712|UMLS:C4022172		Skin pit|Skin pits	http://purl.obolibrary.org/obo/HP_0100276	A small, skin-lined tract that leads from the surface to deep within the tissues.
HP:0100277	Periauricular skin pits	biolink:PhenotypicFeature	hp	UMLS:C4022171		Pits around the ear|Periauricular earpits|Periauricular fistulas|Periauricular pits|Periauricular sinus	http://purl.obolibrary.org/obo/HP_0100277	Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.
HP:0100279	Ulcerative colitis	biolink:PhenotypicFeature	hp	MSH:D003093|SNOMEDCT_US:64766004|UMLS:C0009324		Colitis ulcerosa	http://purl.obolibrary.org/obo/HP_0100279	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	biolink:PhenotypicFeature	hp	MSH:D003424|SNOMEDCT_US:34000006|UMLS:C0010346		Granulomatous enteritis and colitis|Morbus Crohn	http://purl.obolibrary.org/obo/HP_0100280	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:54597004|UMLS:C0267375			http://purl.obolibrary.org/obo/HP_0100281	A chronic inflammatory disease of the large intestine (colon, cecum and rectum).
HP:0100282	Acute colitis	biolink:PhenotypicFeature	hp	UMLS:C2118460			http://purl.obolibrary.org/obo/HP_0100282	An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).
HP:0100283	EMG: continuous motor unit activity at rest	biolink:PhenotypicFeature	hp	UMLS:C4022170			http://purl.obolibrary.org/obo/HP_0100283	Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.
HP:0100284	EMG: myotonic discharges	biolink:PhenotypicFeature	hp	UMLS:C4022169			http://purl.obolibrary.org/obo/HP_0100284	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	biolink:PhenotypicFeature	hp	UMLS:C4022168			http://purl.obolibrary.org/obo/HP_0100285	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	biolink:PhenotypicFeature	hp	UMLS:C4022167			http://purl.obolibrary.org/obo/HP_0100287	The presence of reduced conduction velocity of motor nerves on electromyography.
HP:0100288	EMG: myokymic discharges	biolink:PhenotypicFeature	hp	UMLS:C4022166			http://purl.obolibrary.org/obo/HP_0100288	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	biolink:PhenotypicFeature	hp	UMLS:C4022165		Abnormality of pattern reversal VEP	http://purl.obolibrary.org/obo/HP_0100289	
HP:0100290	Abnormality of peripheral somatosensory evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4022164			http://purl.obolibrary.org/obo/HP_0100290	
HP:0100291	Abnormality of central somatosensory evoked potentials	biolink:PhenotypicFeature	hp	UMLS:C4022163			http://purl.obolibrary.org/obo/HP_0100291	
HP:0100292	Amyloidosis of peripheral nerves	biolink:PhenotypicFeature	hp	UMLS:C4022162			http://purl.obolibrary.org/obo/HP_0100292	The presence of amyloid deposition in the nerves of the peripheral nervous system.
HP:0100293	Muscle fiber hypertrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42091004|UMLS:C0333759		Muscle fibre hypertrophy	http://purl.obolibrary.org/obo/HP_0100293	
HP:0100295	Muscle fiber atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:67867005|UMLS:C0333751		Muscle fiber degeneration|Muscle fibre atrophy	http://purl.obolibrary.org/obo/HP_0100295	
HP:0100296	Perifascicular muscle fiber atrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87196003|UMLS:C0333757		Perifascicular muscle fibre atrophy	http://purl.obolibrary.org/obo/HP_0100296	
HP:0100297	Increased endomysial connective tissue	biolink:PhenotypicFeature	hp	UMLS:C4022161			http://purl.obolibrary.org/obo/HP_0100297	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	biolink:PhenotypicFeature	hp	UMLS:C4022160		Motheaten muscle fibres	http://purl.obolibrary.org/obo/HP_0100298	
HP:0100299	Muscle fiber inclusion bodies	biolink:PhenotypicFeature	hp	UMLS:C4022159		Muscle fibre inclusion bodies	http://purl.obolibrary.org/obo/HP_0100299	
HP:0100300	Desmin bodies	biolink:PhenotypicFeature	hp	UMLS:C4022158			http://purl.obolibrary.org/obo/HP_0100300	
HP:0100301	Muscle fiber tubular inclusions	biolink:PhenotypicFeature	hp	UMLS:C4021024		Muscle fibre tubular inclusions|Muscle fiber tubular aggregates	http://purl.obolibrary.org/obo/HP_0100301	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	biolink:PhenotypicFeature	hp	UMLS:C4021023		Muscle fibre tubuloreticular inclusions|Muscle fiber tubuloreticular aggregates	http://purl.obolibrary.org/obo/HP_0100302	
HP:0100303	Muscle fiber cytoplasmatic inclusion bodies	biolink:PhenotypicFeature	hp	UMLS:C4022157		Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies	http://purl.obolibrary.org/obo/HP_0100303	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	biolink:PhenotypicFeature	hp	UMLS:C4022156		Muscle fibre intranuclear inclusion bodies	http://purl.obolibrary.org/obo/HP_0100304	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:47913008|UMLS:C0333770		Ring fibres	http://purl.obolibrary.org/obo/HP_0100305	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	biolink:PhenotypicFeature	hp	UMLS:C4022155		Muscle fibre hyaline bodies	http://purl.obolibrary.org/obo/HP_0100306	
HP:0100307	Cerebellar hemisphere hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4022154			http://purl.obolibrary.org/obo/HP_0100307	
HP:0100308	Cerebral cortical hemiatrophy	biolink:PhenotypicFeature	hp	UMLS:C4022153			http://purl.obolibrary.org/obo/HP_0100308	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	biolink:PhenotypicFeature	hp	MSH:D006408|SNOMEDCT_US:35486000|SNOMEDCT_US:95453001|UMLS:C0018946		Subdural haemorrhage|Subdural haematoma	http://purl.obolibrary.org/obo/HP_0100309	Hemorrhage occurring between the dura mater and the arachnoid mater.
HP:0100310	Epidural hemorrhage	biolink:PhenotypicFeature	hp	MSH:D006407|SNOMEDCT_US:428268007|SNOMEDCT_US:82999001|UMLS:C0238154		Epidural haemorrhage|Epidural haematoma|Epidural hematoma|Extradural haematoma|Extradural hematoma	http://purl.obolibrary.org/obo/HP_0100310	Hemorrhage occurring between the dura mater and the skull.
HP:0100311	Cerebral ventricular adhesions	biolink:PhenotypicFeature	hp	UMLS:C4022152			http://purl.obolibrary.org/obo/HP_0100311	Bands of scar-like tisssue that hve formed within a cerebral ventricle.
HP:0100312	Cerebral germinoma	biolink:PhenotypicFeature	hp	NCIT:C3708|UMLS:C4022151			http://purl.obolibrary.org/obo/HP_0100312	The presence of a germ cell tumor of the cerebrum.
HP:0100313	Cerebral granulomatosis	biolink:PhenotypicFeature	hp	UMLS:C4022150			http://purl.obolibrary.org/obo/HP_0100313	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	biolink:PhenotypicFeature	hp	UMLS:C4022149			http://purl.obolibrary.org/obo/HP_0100314	Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.
HP:0100315	Lewy bodies	biolink:PhenotypicFeature	hp	MSH:D016631|MSH:D020961|SNOMEDCT_US:312991009|SNOMEDCT_US:43127003|SNOMEDCT_US:80098002|UMLS:C0085200|UMLS:C0752347		Lewy body disease	http://purl.obolibrary.org/obo/HP_0100315	
HP:0100316	Hirano bodies	biolink:PhenotypicFeature	hp	SNOMEDCT_US:57458003|UMLS:C0521178			http://purl.obolibrary.org/obo/HP_0100316	Intracellular aggregates of actin and actin-associated proteins within nerve cells.
HP:0100317	Argyrophilic inclusion bodies	biolink:PhenotypicFeature	hp	UMLS:C4021022		Agyrophilic inclusion bodies|Pick inclusion bodies	http://purl.obolibrary.org/obo/HP_0100317	Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.
HP:0100318	Lafora bodies	biolink:PhenotypicFeature	hp	SNOMEDCT_US:87554006|UMLS:C0333749			http://purl.obolibrary.org/obo/HP_0100318	An intraneuronal inclusion body composed of acid mucopolysaccharides.
HP:0100319	Cerebral hyaline bodies	biolink:PhenotypicFeature	hp	UMLS:C4021021		Cerebral colloid bodies	http://purl.obolibrary.org/obo/HP_0100319	Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.
HP:0100320	Rosenthal fibers	biolink:PhenotypicFeature	hp	SNOMEDCT_US:84605001|UMLS:C0333731		Rosenthal fibres	http://purl.obolibrary.org/obo/HP_0100320	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	Abnormality of the dentate nucleus	biolink:PhenotypicFeature	hp	UMLS:C4022148			http://purl.obolibrary.org/obo/HP_0100321	An abnormality of the dentate nucleus.
HP:0100322	Aplasia of the pyramidal tract	biolink:PhenotypicFeature	hp	UMLS:C4022147		Absent pyramidal tract	http://purl.obolibrary.org/obo/HP_0100322	
HP:0100323	Juvenile aseptic necrosis	biolink:PhenotypicFeature	hp	UMLS:C4020710|UMLS:C4022146		Aseptic epiphyseal necrosis	http://purl.obolibrary.org/obo/HP_0100323	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	biolink:PhenotypicFeature	hp	MSH:D012594|SNOMEDCT_US:403524003|SNOMEDCT_US:89155008|UMLS:C0011644|UMLS:C1274865		Progressive systemic scleroderma|Pseudoscleroderma	http://purl.obolibrary.org/obo/HP_0100324	A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
HP:0100326	Immunologic hypersensitivity	biolink:PhenotypicFeature	hp	UMLS:C0237653			http://purl.obolibrary.org/obo/HP_0100326	Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.
HP:0100327	Cow milk allergy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15911003|UMLS:C0266815		Cow milk allergy|Milk allergy|IgE-mediated cow milk allergy|Immunoglobulin E-mediated cow milk allergy	http://purl.obolibrary.org/obo/HP_0100327	Hypersensitivity in form of an adverse immune reaction against cow milk protein.
HP:0100328	Carpometacarpal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4022145		Fused wrist bones and long bones of hand	http://purl.obolibrary.org/obo/HP_0100328	Fusion involving carpal and metacarpal bones.
HP:0100329	Tarsometatarsal synostosis	biolink:PhenotypicFeature	hp	UMLS:C4022144		Fused bones of the midfoot	http://purl.obolibrary.org/obo/HP_0100329	
HP:0100333	Unilateral cleft lip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:304067009|UMLS:C0392006		One sided cleft upper lip|Unilateral cheiloschisis|Unilateral cleft upper lip	http://purl.obolibrary.org/obo/HP_0100333	A non-midline cleft of the upper lip on one side only.
HP:0100334	Unilateral cleft palate	biolink:PhenotypicFeature	hp	UMLS:C4022143		One sided cleft palate|Unilateral palatoschisis	http://purl.obolibrary.org/obo/HP_0100334	
HP:0100335	Non-midline cleft lip	biolink:PhenotypicFeature	hp	UMLS:C4021020		Non-midline cleft of the upper lip|Paramedian cleft of the upper lip	http://purl.obolibrary.org/obo/HP_0100335	Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
HP:0100336	Bilateral cleft lip	biolink:PhenotypicFeature	hp	SNOMEDCT_US:304068004|UMLS:C0392005	hposlim_core	Both sided cleft lip|Right and left cleft lip|Bilateral cheiloschisis	http://purl.obolibrary.org/obo/HP_0100336	A non-midline cleft of the upper lip on the left and right sides.
HP:0100337	Bilateral cleft palate	biolink:PhenotypicFeature	hp	UMLS:C3553084	hposlim_core	Right and left cleft palate|Bilateral palatoschisis	http://purl.obolibrary.org/obo/HP_0100337	Nonmidline cleft palate on the left and right sides.
HP:0100338	Non-midline cleft palate	biolink:PhenotypicFeature	hp	UMLS:C4022142		Paramedian cleft palate	http://purl.obolibrary.org/obo/HP_0100338	
HP:0100339	Abnormality of the os naviculare pedis	biolink:PhenotypicFeature	hp	UMLS:C4022141			http://purl.obolibrary.org/obo/HP_0100339	
HP:0100340	Fibular deviation of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022140			http://purl.obolibrary.org/obo/HP_0100340	
HP:0100341	Tibial deviation of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022139			http://purl.obolibrary.org/obo/HP_0100341	
HP:0100342	Fibular deviation of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022138			http://purl.obolibrary.org/obo/HP_0100342	
HP:0100343	Tibial deviation of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022137			http://purl.obolibrary.org/obo/HP_0100343	
HP:0100344	Fibular deviation of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022136			http://purl.obolibrary.org/obo/HP_0100344	
HP:0100345	Tibial deviation of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4022135			http://purl.obolibrary.org/obo/HP_0100345	
HP:0100346	Fibular deviation of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022134			http://purl.obolibrary.org/obo/HP_0100346	
HP:0100347	Tibial deviation of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022133			http://purl.obolibrary.org/obo/HP_0100347	
HP:0100348	Contracture of the proximal interphalangeal joint of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021019		Camptodactyly of the 2nd toe|Camptodactyly of the second toe	http://purl.obolibrary.org/obo/HP_0100348	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	biolink:PhenotypicFeature	hp	UMLS:C4021018		Camptodactyly of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100349	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	biolink:PhenotypicFeature	hp	UMLS:C4021017		Camptodactyly of the 4th toe|Camptodactyly of the fourth toe|Contracture of the innermost hinge joint of the 4th toe	http://purl.obolibrary.org/obo/HP_0100350	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	biolink:PhenotypicFeature	hp	UMLS:C4021016		Camptodactyly of the 5th toe|Camptodactyly of the fifth toe	http://purl.obolibrary.org/obo/HP_0100351	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	biolink:PhenotypicFeature	hp	UMLS:C4021015		Contracture of the distal interphalangeal joint of the second toe	http://purl.obolibrary.org/obo/HP_0100352	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	biolink:PhenotypicFeature	hp	UMLS:C4022132			http://purl.obolibrary.org/obo/HP_0100353	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	biolink:PhenotypicFeature	hp	UMLS:C4022131			http://purl.obolibrary.org/obo/HP_0100354	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	biolink:PhenotypicFeature	hp	UMLS:C4022130		Contracture of the outermost hinge joint of the 5th toe	http://purl.obolibrary.org/obo/HP_0100355	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	biolink:PhenotypicFeature	hp	UMLS:C4022129			http://purl.obolibrary.org/obo/HP_0100356	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	biolink:PhenotypicFeature	hp	UMLS:C4022128			http://purl.obolibrary.org/obo/HP_0100357	The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.
HP:0100358	Contracture of the metatarsophalangeal joint of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022127			http://purl.obolibrary.org/obo/HP_0100358	The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.
HP:0100359	Contracture of the metatarsophalangeal joint of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022126			http://purl.obolibrary.org/obo/HP_0100359	The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.
HP:0100360	Contractures of the joints of the upper limbs	biolink:PhenotypicFeature	hp	UMLS:C2750635			http://purl.obolibrary.org/obo/HP_0100360	
HP:0100362	Aplasia of the phalanges of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022125		Absent digital bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100362	
HP:0100363	Aplasia of the phalanges of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022124		Absent bones of the 4th toe	http://purl.obolibrary.org/obo/HP_0100363	
HP:0100364	Aplasia of the phalanges of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022123		Absent little toe bones|Absent pinkie toe bones|Absent pinky toe bones	http://purl.obolibrary.org/obo/HP_0100364	
HP:0100366	Short phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021014		Short 3rd toe bone|Hypoplastic/small phalanges of the 3rd toe|Short phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100366	Developmental hypoplasia of the phalanx of third toe.
HP:0100367	Short phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021013		Short 4th toe bone|Hypoplastic/small phalanges of the 4th toe|Short phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100367	Developmental hypoplasia of one or more phalanx of fourth toe.
HP:0100368	Short phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021012		Short little toe bone|Short pinkie toe bone|Short pinky toe bone|Hypoplastic/small phalanges of the 5th toe|Short phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100368	Developmental hypoplasia of one or more phalanx of little toe.
HP:0100369	Aplasia/Hypoplasia of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022122		Absent/small outermost 3rd toe bone|Absent/underdeveloped outermost 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100369	
HP:0100370	Aplasia/Hypoplasia of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022121		Absent/small outermost bone of 4th toe|Absent/underdeveloped outermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100370	
HP:0100371	Aplasia/Hypoplasia of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022120		Absent/small outermost little toe bone|Absent/small outermost pinkie toe bone|Absent/small outermost pinky toe bone|Absent/underdeveloped outermost pinky toe bone	http://purl.obolibrary.org/obo/HP_0100371	
HP:0100372	Aplasia/Hypoplasia of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022119		Absent/small middle 3rd toe bone|Absent/underdeveloped middle 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100372	
HP:0100373	Aplasia/Hypoplasia of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022118		Absent/small middle bone of the 4th toe|Absent/underdeveloped middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100373	
HP:0100374	Aplasia/Hypoplasia of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022117		Absent/small middle 5th toe bone|Absent/underdeveloped middle bone of little toe|Absent/underdeveloped middle bone of pinkie toe|Absent/underdeveloped middle bone of pinky toe	http://purl.obolibrary.org/obo/HP_0100374	
HP:0100375	Aplasia/hypoplasia of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022116		Absent/small innermost bone of 3rd toe|Absent/underdeveloped innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100375	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe.
HP:0100376	Aplasia/hypoplasia of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022115		Absent/small innermost 4th toe bone|Absent/underdeveloped innermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0100376	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe.
HP:0100377	Aplasia/hypoplasia of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022114		Absent/small innermost little toe bone|Absent/small innermost pinkie toe bone|Absent/small innermost pinky toe bone|Absent/underdeveloped innermost 5th toe bone	http://purl.obolibrary.org/obo/HP_0100377	Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe.
HP:0100378	Absent distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021011		Absent outermost bone of the 3rd toe|Absent distal phalanx of the third toe|Aplasia of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100378	Developmental aplasia of the distal phalanx of third toe.
HP:0100379	Aplasia of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022113		Absent outermost bone of the 4th toe|Absent distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100379	
HP:0100380	Aplasia of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022112		Absent outermost bone of the little toe|Absent outermost bone of the pinkie toe|Absent outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100380	
HP:0100381	Absent middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021010		Absent middle bone of the 3rd toe|Absent middle phalanx of the third toe|Aplasia of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100381	Developmental aplasia of the middle phalanx of third toe.
HP:0100382	Aplasia of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022111		Absent middle bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100382	
HP:0100383	Aplasia of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022110		Absent middle bone of little toe|Absent middle bone of pinkie toe|Absent middle bone of pinky toe	http://purl.obolibrary.org/obo/HP_0100383	
HP:0100384	Absent proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021009		Absent innermost bone of the 3rd toe|Aplasia of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100384	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	biolink:PhenotypicFeature	hp	UMLS:C4022109		Absent innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100385	
HP:0100386	Aplasia of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022108		Absent innermost bone of the little toe|Absent innermost bone of the pinkie toe|Absent innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100386	
HP:0100387	Aplasia of the middle phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4022107		Absent middle toe bones	http://purl.obolibrary.org/obo/HP_0100387	
HP:0100388	Aplasia of the proximal phalanges of the toes	biolink:PhenotypicFeature	hp	UMLS:C4022106		Absent innermost toe bones	http://purl.obolibrary.org/obo/HP_0100388	
HP:0100389	Short distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021008		Short outermost bone of the 3rd toe|Hypoplastic/small distal phalanx of the 3rd toe|Short distal phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100389	Developmental hypoplasia of the distal phalanx of third toe.
HP:0100390	Short distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021007		Short outermost bone of the 4th toe|Hypoplastic/small distal phalanx of the 4th toe|Short distal phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100390	Developmental hypoplasia of the distal phalanx of fourth toe.
HP:0100391	Short distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021006		Short outermost bone of the little toe|Short outermost bone of the pinkie toe|Short outermost bone of the pinky toe|Hypoplastic/small distal phalanx of the 5th toe|Short distal phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100391	Developmental hypoplasia of the distal phalanx of little toe.
HP:0100392	Short middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021005		Hypoplastic/small middle phalanx of the 3rd toe|Short middle phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100392	Developmental hypoplasia of the middle phalanx of third toe.
HP:0100393	Short middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021004		Short middle bone of 4th toe|Hypoplastic/small middle phalanx of the 4th toe|Short middle phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100393	Developmental hypoplasia of the middle phalanx of fourth toe.
HP:0100394	Short middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021003		Hypoplastic/small middle phalanx of the 5th toe|Short middle bone of little toe|Short middle bone of pinkie toe|Short middle bone of pinky toe|Short middle phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100394	Developmental hypoplasia of the middle phalanx of the 5th toe.
HP:0100395	Short proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021002		Hypoplastic/small proximal phalanx of the 3rd toe|Short proximal phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100395	Abnormal reduction in length of proximal phalanx of third toe.
HP:0100396	Short proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4021001		Hypoplastic/small proximal phalanx of the 4th toe|Short fourth toe proximal phalanx|Short proximal phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100396	Developmental hypoplasia of the proximal phalanx of fourth toe.
HP:0100397	Short proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021000		Hypoplastic/small proximal phalanx of the 5th toe|Short innermost bone of little toe|Short innermost bone of pinkie toe|Short innermost bone of pinky toe|Short proximal phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100397	Developmental hypoplasia of the proximal phalanx of fifth toe.
HP:0100398	Duplication of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020999		Duplication of the outermost bone of the 3rd toe|Duplication of the distal phalanx of the third toe|Partial/complete duplication of the distal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100398	Partial or complete duplication of distal phalanx of third toe.
HP:0100399	Duplication of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020998		Duplication of the outermost bone of the 4th toe|Duplication of the distal phalanx of the fourth toe|Partial/complete duplication of the distal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100399	Partial or complete duplication of the distal phalanx of fourth toe.
HP:0100400	Duplication of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020997		Duplication of the outermost bone of the fifth toe|Duplication of the outermost bone of the little toe|Duplication of the outermost bone of the pinkie toe|Duplication of the outermost bone of the pinky toe|Duplication of the distal phalanx of the fifth toe|Partial/complete duplication of the distal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100400	Partial or complete duplication of the distal phalanx of little toe.
HP:0100401	Duplication of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020996		Duplication of the middle bone of the 3rd toe|Duplication of the middle phalanx of the third toe|Partial/complete duplication of the middle phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100401	Partial or complete duplication of middle phalanx of third toe.
HP:0100402	Duplication of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020995		Duplication of the middle bone of the 4th toe|Duplication of the middle phalanx of the fourth toe|Partial/complete duplication of the middle phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100402	Partial or complete duplication of middle phalanx of fourth toe.
HP:0100403	Duplication of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020994		Duplication of the middle bone of the little toe|Duplication of the middle bone of the pinkie toe|Duplication of the middle bone of the pinky toe|Duplication of the middle phalanx of the fifth toe|Partial/complete duplication of the middle phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100403	Partial or complete duplication of the middle phalanx of the 5th toe.
HP:0100404	Duplication of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020993		Duplication of the innermost 3rd toe bone|Duplication of the proximal phalanx of the third toe|Partial/complete duplication of the proximal phalanx of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100404	Partial or complete duplication of proximal phalanx of third toe.
HP:0100405	Duplication of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020992		Duplication of the innermost 4th toe bone|Duplication of the proximal phalanx of the fourth toe|Partial/complete duplication of the proximal phalanx of the 4th toe	http://purl.obolibrary.org/obo/HP_0100405	Partial or complete duplication of the proximal phalanx of fourth toe.
HP:0100406	Duplication of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020991		Duplication of the innermost bone of the little toe|Duplication of the innermost bone of the pinkie toe|Duplication of the innermost bone of the pinky toe|Duplication of the proximal phalanx of the fifth toe|Partial/complete duplication of the proximal phalanx of the 5th toe	http://purl.obolibrary.org/obo/HP_0100406	Partial or complete duplication of the proximal phalanx of fifth toe.
HP:0100407	Complete duplication of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020990		Complete duplication of the outermost bone of the 3rd toe|Complete duplication of the distal phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100407	Complete duplication of distal phalanx of third toe.
HP:0100408	Complete duplication of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020989		Complete duplication of the outermost bone of the 4th toe|Complete duplication of the distal phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100408	Complete duplication of the distal phalanx of fourth toe.
HP:0100409	Complete duplication of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020988		Complete duplication of the outermost bone of the little toe|Complete duplication of the outermost bone of the pinkie toe|Complete duplication of the outermost bone of the pinky toe|Complete duplication of the distal phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100409	Complete duplication of the distal phalanx of little toe.
HP:0100410	Complete duplication of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020987		Complete duplication of the middle bone of the 3rd toe|Complete duplication of the middle phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100410	Complete duplication of middle phalanx of third toe.
HP:0100411	Complete duplication of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020986		Complete duplication of the middle bone of the 4th toe|Complete duplication of the middle phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100411	Complete duplication of middle phalanx of fourth toe.
HP:0100412	Complete duplication of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020985		Complete duplication of the middle bone of the little toe|Complete duplication of the middle bone of the pinkie toe|Complete duplication of the middle bone of the pinky toe|Complete duplication of the middle phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100412	Complete duplication of the middle phalanx of the 5th toe.
HP:0100413	Complete duplication of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022105		Complete duplication of the innermost 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100413	Complete duplication of proximal phalanx of third toe.
HP:0100414	Complete duplication of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022104		Complete duplication of the innermost 4th toe bone	http://purl.obolibrary.org/obo/HP_0100414	
HP:0100415	Complete duplication of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020984		Complete duplication of the innermost bone of the little toe|Complete duplication of the innermost bone of the pinkie toe|Complete duplication of the innermost bone of the pinky toe|Complete duplication of the proximal phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100415	Complete duplication of the proximal phalanx of fifth toe.
HP:0100416	Partial duplication of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020983		Partial duplication of the outermost bone of the 3rd toe|Partial duplication of the distal phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100416	Partial duplication of distal phalanx of third toe.
HP:0100417	Partial duplication of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020982		Partial duplication of the outermost bone of the fourth toe|Partial duplication of the distal phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100417	Partial duplication of the distal phalanx of fourth toe.
HP:0100418	Partial duplication of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020981		Partial duplication of the outermost bone of the fifth toe|Partial duplication of the outermost bone of the little toe|Partial duplication of the outermost bone of the pinkie toe|Partial duplication of the outermost bone of the pinky toe|Partial duplication of the distal phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100418	Partial duplication of the distal phalanx of little toe.
HP:0100419	Partial duplication of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020980		Partial duplication of the middle bone of 3rd toe|Partial duplication of the middle phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100419	Partial duplication of middle phalanx of third toe.
HP:0100420	Partial duplication of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020979		Partial duplication of the middle bone of the 4th toe|Partial duplication of the middle phalanx of the fourth toe	http://purl.obolibrary.org/obo/HP_0100420	Partial duplication of middle phalanx of fourth toe.
HP:0100421	Partial duplication of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020978		Partial duplication of the middle bone of the little toe|Partial duplication of the middle bone of the pinkie toe|Partial duplication of the middle bone of the pinky toe|Partial duplication of the middle phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100421	Partial duplication of the middle phalanx of the 5th toe.
HP:0100422	Partial duplication of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020977		Partial duplication of the innermost bone of 3rd toe|Partial duplication of the proximal phalanx of the third toe	http://purl.obolibrary.org/obo/HP_0100422	Partial duplication of proximal phalanx of third toe.
HP:0100423	Partial duplication of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022103		Partial duplication of the innermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100423	
HP:0100424	Partial duplication of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020976		Partial duplication of the innermost bone of the little toe|Partial duplication of the innermost bone of the pinkie toe|Partial duplication of the innermost bone of the pinky toe|Partial duplication of the proximal phalanx of the fifth toe	http://purl.obolibrary.org/obo/HP_0100424	Partial duplication of the proximal phalanx of fifth toe.
HP:0100425	Broad middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022102		Broad middle 3rd toe bone	http://purl.obolibrary.org/obo/HP_0100425	
HP:0100426	Broad middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022101		Broad middle 4th toe bone	http://purl.obolibrary.org/obo/HP_0100426	
HP:0100427	Broad middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022100		Broad middle bone of the little toe|Broad middle bone of the pinkie toe|Broad middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100427	
HP:0100428	Broad proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022099		Wide innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100428	
HP:0100429	Broad proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022098		Wide innermost bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100429	
HP:0100430	Broad proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022097		Broad innermost bone of the little toe|Broad innermost bone of the pinkie toe|Broad innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100430	
HP:0100431	Broad distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022096		Broad outermost bone of the 3rd toe|Wide outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100431	
HP:0100432	Broad distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022095		Broad outermost bone of the 4th toe|Wide outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100432	
HP:0100433	Broad distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022094		Broad outermost bone of the 5th toe|Wide outermost bone of the little toe|Wide outermost bone of the pinkie toe|Wide outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100433	
HP:0100434	Bullet-shaped middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022093		Bullet-shaped middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100434	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	biolink:PhenotypicFeature	hp	UMLS:C4022092		Bullet-shaped middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100435	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	biolink:PhenotypicFeature	hp	UMLS:C4022091		Bullet-shaped middle bone of the little toe|Bullet-shaped middle bone of the pinkie toe|Bullet-shaped middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100436	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	biolink:PhenotypicFeature	hp	UMLS:C4022090		Bullet-shaped proximal bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100437	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	biolink:PhenotypicFeature	hp	UMLS:C4022089		Bullet-shaped proximal bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100438	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	biolink:PhenotypicFeature	hp	UMLS:C4022088		Bullet-shaped innermost bone of little toe|Bullet-shaped innermost bone of pinkie toe|Bullet-shaped innermost bone of pinky toe	http://purl.obolibrary.org/obo/HP_0100439	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	biolink:PhenotypicFeature	hp	UMLS:C4022087		Bullet-shaped outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100440	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	biolink:PhenotypicFeature	hp	UMLS:C4022086		Bullet-shaped outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100441	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	biolink:PhenotypicFeature	hp	UMLS:C4022085		Bullet-shaped outermost bone of the little toe|Bullet-shaped outermost bone of the pinkie toe|Bullet-shaped outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100442	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	biolink:PhenotypicFeature	hp	UMLS:C4022084		Curved middle bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100443	A deviation from the normal straight form of the middle phalanx of the third toe.
HP:0100444	Curved middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022083		Curved middle bone of 4th toe	http://purl.obolibrary.org/obo/HP_0100444	A deviation from the normal straight form of the middle phalanx of the fourth toe.
HP:0100445	Curved middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022082		Curved middle bone of little toe|Curved middle bone of pinkie toe|Curved middle bone of pinky toe	http://purl.obolibrary.org/obo/HP_0100445	A deviation from the normal straight form of the middle phalanx of the fifth toe.
HP:0100446	Curved proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022081		Curved innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100446	A deviation from the normal straight form of the proximal phalanx of the third toe.
HP:0100447	Curved proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022080		Curved innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100447	A deviation from the normal straight form of the proximal phalanx of the fourth toe.
HP:0100448	Curved proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022079		Curved innermost little toe bone|Curved innermost pinkie toe bone|Curved innermost pinky toe bone	http://purl.obolibrary.org/obo/HP_0100448	A deviation from the normal straight form of the proximal phalanx of the fifth toe.
HP:0100449	Curved distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022078		Curved outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100449	A deviation from the normal straight form of the distal phalanx of the third toe.
HP:0100450	Curved distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022077		Curved outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100450	A deviation from the normal straight form of the distal phalanx of the fourth toe.
HP:0100451	Curved distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022076		Curved outermost bone of the little toe|Curved outermost bone of the pinkie toe|Curved outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100451	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	biolink:PhenotypicFeature	hp	UMLS:C4022075			http://purl.obolibrary.org/obo/HP_0100452	
HP:0100453	Osteolytic defects of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022074			http://purl.obolibrary.org/obo/HP_0100453	
HP:0100454	Osteolytic defects of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022073			http://purl.obolibrary.org/obo/HP_0100454	
HP:0100455	Osteolytic defects of the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022072			http://purl.obolibrary.org/obo/HP_0100455	
HP:0100456	Osteolytic defects of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022071			http://purl.obolibrary.org/obo/HP_0100456	
HP:0100457	Osteolytic defects of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022070			http://purl.obolibrary.org/obo/HP_0100457	
HP:0100458	Osteolytic defects of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022069		Osteolytic defects of the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100458	
HP:0100459	Osteolytic defects of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022068		Osteolytic defects of the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100459	
HP:0100460	Osteolytic defects of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022067		Osteolytic defects of the outermost bone of the 5th toe	http://purl.obolibrary.org/obo/HP_0100460	
HP:0100461	Patchy sclerosis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022066		Uneven increase in bone density in the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100461	
HP:0100462	Patchy sclerosis of the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022065		Uneven increase in bone density in middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100462	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	biolink:PhenotypicFeature	hp	UMLS:C4022064		Uneven increase in bone density in the middle bone of the little toe|Uneven increase in bone density in the middle bone of the pinkie toe|Uneven increase in bone density in the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100463	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	biolink:PhenotypicFeature	hp	UMLS:C4022063		Uneven increase in bone density in the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100464	
HP:0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022062		Uneven increase in bone density in the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100465	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	biolink:PhenotypicFeature	hp	UMLS:C4022061		Uneven increase in bone density in the innermost bone of the little toe|Uneven increase in bone density in the innermost bone of the pinkie toe|Uneven increase in bone density in the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100466	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	biolink:PhenotypicFeature	hp	UMLS:C4022060		Uneven increase in bone density in the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100467	
HP:0100468	Patchy sclerosis of the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022059		Uneven increase in bone density in the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100468	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	biolink:PhenotypicFeature	hp	UMLS:C4022058		Uneven increase in bone density in the outermost little toe bone|Uneven increase in bone density in the outermost pinkie toe bone|Uneven increase in bone density in the outermost pinky toe bone	http://purl.obolibrary.org/obo/HP_0100469	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	biolink:PhenotypicFeature	hp	UMLS:C4022057		Fused middle bones of 3rd toe	http://purl.obolibrary.org/obo/HP_0100470	
HP:0100471	Symphalangism affecting the middle phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022056		Fused middle bones of 4th toe	http://purl.obolibrary.org/obo/HP_0100471	
HP:0100472	Symphalangism affecting the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022055		Fused middle bones of 5th toe	http://purl.obolibrary.org/obo/HP_0100472	
HP:0100473	Symphalangism affecting the proximal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022054		Fused innermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100473	
HP:0100474	Symphalangism affecting the proximal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022053		Fused innermost bones of 4th toe	http://purl.obolibrary.org/obo/HP_0100474	
HP:0100475	Symphalangism affecting the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022052		Fused innermost bone of little toe|Fused innermost bone of pinkie toe|Fused innermost bone of pinky toe	http://purl.obolibrary.org/obo/HP_0100475	
HP:0100476	Symphalangism affecting the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4022051		Fused outermost bone of 3rd toe	http://purl.obolibrary.org/obo/HP_0100476	
HP:0100477	Symphalangism affecting the distal phalanx of the 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4022050		Fused outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100477	
HP:0100478	Symphalangism affecting the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022049		Fused outermost bones of the little toe|Fused outermost bones of the pinkie toe|Fused outermost bones of the pinky toe	http://purl.obolibrary.org/obo/HP_0100478	
HP:0100480	Proximal/middle symphalangism of 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4020975		Fused innermost and middle bones of 3rd toe|Symphalangism of the middle and proximal phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100480	Bony fusion of the middle and proximal phalanges of the 3rd toe.
HP:0100481	Proximal/middle symphalangism of 4th toe	biolink:PhenotypicFeature	hp	UMLS:C4020974		Fused innermost and middle bones of 4th toe|Symphalangism of the middle and proximal phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0100481	Bony fusion of the middle and proximal phalanges of the 4th toe.
HP:0100482	Proximal/middle symphalangism of 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4020973		Fused innermost and middle little toe bones|Fused innermost and middle pinkie toe bones|Fused innermost and middle pinky toe bones|Symphalangism of the middle and proximal phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0100482	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	biolink:PhenotypicFeature	hp	UMLS:C4022048		Fused innermost bone of 2nd toe with the 2nd long bone of foot	http://purl.obolibrary.org/obo/HP_0100483	
HP:0100484	Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4022047		Fused innermost bones of third toe with 3rd long bone of foot	http://purl.obolibrary.org/obo/HP_0100484	
HP:0100485	Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4022046		Fused innermost bone of the 4th toe with 4th long bone of foot	http://purl.obolibrary.org/obo/HP_0100485	
HP:0100486	Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4022045		Fused innermost pinky toe bone with the 5th long bone of foot	http://purl.obolibrary.org/obo/HP_0100486	
HP:0100487	Triangular shaped distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4022044		Triangular shaped outermost bone of the little toe|Triangular shaped outermost bone of the pinkie toe|Triangular shaped outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100487	
HP:0100488	Synostosis of the proximal phalanx of the hallux with the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4022043		Fusion of the innermost big toe bone with the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0100488	
HP:0100489	Proximal/middle symphalangism of 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4020972		Fused middle and innermost bones of 2nd toe|Symphalangism of the middle and proximal phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100489	Bony fusion of the middle and proximal phalanges of the 2nd toe.
HP:0100490	Camptodactyly of finger	biolink:PhenotypicFeature	hp	SNOMEDCT_US:202281000|UMLS:C0409348		Permanent flexion of the finger|Camptodactyly of hands|Camptodactyly of proximal interphalangeal joint|Contractures of the proximal interphalangeal joints of the fingers|Flexion contractures of proximal interphalangeal joints|Proximal interphalangeal finger joint contractures	http://purl.obolibrary.org/obo/HP_0100490	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	biolink:PhenotypicFeature	hp	UMLS:C4020971		Abnormality of lower limb joint|Abnormality of the joints of the lower limbs	http://purl.obolibrary.org/obo/HP_0100491	
HP:0100492	Joint contractures involving the joints of the feet	biolink:PhenotypicFeature	hp	UMLS:C4022042			http://purl.obolibrary.org/obo/HP_0100492	Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.
HP:0100493	Hypoammonemia	biolink:PhenotypicFeature	hp	UMLS:C4022041			http://purl.obolibrary.org/obo/HP_0100493	A decreased concentration of ammonia in the blood.
HP:0100494	Abnormal mast cell morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:397017008|UMLS:C1301149		Abnormality of mast cells|Abnormality of mastocytes	http://purl.obolibrary.org/obo/HP_0100494	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	biolink:PhenotypicFeature	hp	MSH:D008415|SNOMEDCT_US:125541005|SNOMEDCT_US:397007003|UMLS:C0024899			http://purl.obolibrary.org/obo/HP_0100495	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	biolink:PhenotypicFeature	hp	UMLS:C4022040		Abnormality of the vitamin B3 metabolism	http://purl.obolibrary.org/obo/HP_0100496	
HP:0100497	Vitamin B3 deficiency	biolink:PhenotypicFeature	hp	MSH:D010383|SNOMEDCT_US:418186002|SNOMEDCT_US:418279001|UMLS:C0030783		Vitamin B3 deficiency	http://purl.obolibrary.org/obo/HP_0100497	
HP:0100498	Deviation of toes	biolink:PhenotypicFeature	hp	UMLS:C4022039			http://purl.obolibrary.org/obo/HP_0100498	
HP:0100499	Tibial deviation of toes	biolink:PhenotypicFeature	hp	UMLS:C3806533		Medial deviation of toes	http://purl.obolibrary.org/obo/HP_0100499	
HP:0100500	Fibular deviation of toes	biolink:PhenotypicFeature	hp	UMLS:C4020970		Lateral deviation of toes	http://purl.obolibrary.org/obo/HP_0100500	
HP:0100501	Recurrent bronchiolitis	biolink:PhenotypicFeature	hp	UMLS:C4015136			http://purl.obolibrary.org/obo/HP_0100501	An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.
HP:0100502	Vitamin B12 deficiency	biolink:PhenotypicFeature	hp	MSH:D014806|SNOMEDCT_US:190634004|UMLS:C0042847		Vitamin B12 deficiency	http://purl.obolibrary.org/obo/HP_0100502	
HP:0100503	Low levels of vitamin B1	biolink:PhenotypicFeature	hp	MSH:D013832|SNOMEDCT_US:399357009|UMLS:C0039841		Vitamin B1 deficiency|Reduced blood thiamine level	http://purl.obolibrary.org/obo/HP_0100503	A reduced concentration of vitamin B1.
HP:0100504	Low levels of vitamin B2	biolink:PhenotypicFeature	hp	MSH:D012257|SNOMEDCT_US:20307000|UMLS:C0035528		Vitamin B2 deficiency|Riboflavin deficiency	http://purl.obolibrary.org/obo/HP_0100504	A reduced concentration of vitamin B2.
HP:0100505	Low levels of vitamin B5	biolink:PhenotypicFeature	hp	UMLS:C4022038		Vitamin B5 deficiency	http://purl.obolibrary.org/obo/HP_0100505	A reduced concentration of vitamin B5.
HP:0100506	Low levels of vitamin B8	biolink:PhenotypicFeature	hp	UMLS:C4022037		Vitamin B8 deficiency	http://purl.obolibrary.org/obo/HP_0100506	A reduced concentration of vitamin B8.
HP:0100507	Reduced blood folate concentration	biolink:PhenotypicFeature	hp	MSH:D005494|SNOMEDCT_US:190633005|UMLS:C0016412		Folate deficiency|Vitamin B9 deficiency	http://purl.obolibrary.org/obo/HP_0100507	A reduced circulating concentration of folic acid, which is also known as vitamin B9.
HP:0100508	Abnormality of vitamin metabolism	biolink:PhenotypicFeature	hp	UMLS:C4022036		Abnormality of vitamin metabolism	http://purl.obolibrary.org/obo/HP_0100508	An anomaly in the metabolism of a vitamin.
HP:0100509	Abnormality of vitamin C metabolism	biolink:PhenotypicFeature	hp	UMLS:C4021863		Abnormality of vitamin C metabolism	http://purl.obolibrary.org/obo/HP_0100509	
HP:0100510	Low levels of vitamin C	biolink:PhenotypicFeature	hp	MSH:D001206|SNOMEDCT_US:76169001|UMLS:C0003969		Vitamin C deficiency	http://purl.obolibrary.org/obo/HP_0100510	A reduced concentration of Vitamin C.
HP:0100511	Abnormality of vitamin D metabolism	biolink:PhenotypicFeature	hp	UMLS:C4022035		Abnormality of vitamin D metabolism	http://purl.obolibrary.org/obo/HP_0100511	
HP:0100512	Low levels of vitamin D	biolink:PhenotypicFeature	hp	MSH:D014808|SNOMEDCT_US:34713006|UMLS:C0042870		Deficient in vitamin D|Vitamin D deficiency	http://purl.obolibrary.org/obo/HP_0100512	A reduced concentration of Vitamin D.
HP:0100513	Low levels of vitamin E	biolink:PhenotypicFeature	hp	MSH:D014811|SNOMEDCT_US:54137008|UMLS:C0042875		Vitamin E deficiency|Alpha-tocopherol deficiency	http://purl.obolibrary.org/obo/HP_0100513	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	biolink:PhenotypicFeature	hp	UMLS:C4022034		Abnormality of vitamin E metabolism	http://purl.obolibrary.org/obo/HP_0100514	
HP:0100515	Pollakisuria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:162116003|SNOMEDCT_US:300471006|UMLS:C0042023		Constant urination|Frequent urination	http://purl.obolibrary.org/obo/HP_0100515	Increased frequency of urination.
HP:0100516	Neoplasm of the ureter	biolink:PhenotypicFeature	hp	MSH:D014516|NCIT:C3262|SNOMEDCT_US:126882009|SNOMEDCT_US:363458004|UMLS:C0041955|UMLS:C0153619		Neoplasia of the ureters|ureter, cancer of	http://purl.obolibrary.org/obo/HP_0100516	The presence of a neoplasm of the ureter.
HP:0100517	Neoplasm of the urethra	biolink:PhenotypicFeature	hp	MSH:D014523|NCIT:C2974|SNOMEDCT_US:126883004|UMLS:C0041971		Neoplasia of the urethra	http://purl.obolibrary.org/obo/HP_0100517	The presence of a neoplasm of the urethra.
HP:0100518	Dysuria	biolink:PhenotypicFeature	hp	MSH:D053159|SNOMEDCT_US:49650001|UMLS:C0013428		Painful or difficult urination|Dull burning sensation with urination	http://purl.obolibrary.org/obo/HP_0100518	Painful or difficult urination.
HP:0100519	Anuria	biolink:PhenotypicFeature	hp	MSH:D001002|SNOMEDCT_US:2472002|UMLS:C0003460		Absent urine output	http://purl.obolibrary.org/obo/HP_0100519	Absence of urine, clinically classified as below 50ml/day.
HP:0100520	Oliguria	biolink:PhenotypicFeature	hp	MSH:D009846|SNOMEDCT_US:718403007|SNOMEDCT_US:83128009|UMLS:C0028961			http://purl.obolibrary.org/obo/HP_0100520	Low output of urine, clinically classified as an output below 300-500ml/day.
HP:0100521	Neoplasm of the thymus	biolink:PhenotypicFeature	hp	MSH:D013953|NCIT:C3262|SNOMEDCT_US:127231009|UMLS:C3714644			http://purl.obolibrary.org/obo/HP_0100521	A tumor (abnormal growth of tissue) of the thymus.
HP:0100522	Thymoma	biolink:PhenotypicFeature	hp	MSH:D013945|NCIT:C3411|SNOMEDCT_US:128856005|SNOMEDCT_US:444231005|UMLS:C0040100			http://purl.obolibrary.org/obo/HP_0100522	A tumor originating from the epithelial cells of the thymus.
HP:0100523	Liver abscess	biolink:PhenotypicFeature	hp	MSH:D008100|SNOMEDCT_US:27916005|UMLS:C0023885		Liver abscess|Hepatic abscess	http://purl.obolibrary.org/obo/HP_0100523	The presence of an abscess of the liver.
HP:0100524	Limb duplication	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34488005|UMLS:C0265551	hposlim_core	Limb duplication|Dimelia	http://purl.obolibrary.org/obo/HP_0100524	Congenital duplication of all or part of a limb.
HP:0100525	Urachus fistula	biolink:PhenotypicFeature	hp	SNOMEDCT_US:398320008|SNOMEDCT_US:50986000|UMLS:C0345344			http://purl.obolibrary.org/obo/HP_0100525	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	biolink:PhenotypicFeature	hp	MSH:D008175|NCIT:C3262|SNOMEDCT_US:126713003|UMLS:C0024121		Lung cancer|Lung tumor	http://purl.obolibrary.org/obo/HP_0100526	Tumor of the lung.
HP:0100527	Neoplasia of the pleura	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4022033			http://purl.obolibrary.org/obo/HP_0100527	
HP:0100528	Pleuropulmonary blastoma	biolink:PhenotypicFeature	hp	MSH:C537516|NCIT:C3732|SNOMEDCT_US:128763002|SNOMEDCT_US:707670009|UMLS:C1266144			http://purl.obolibrary.org/obo/HP_0100528	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	biolink:PhenotypicFeature	hp	UMLS:C4022032		Abnormality of phosphate homeostasis	http://purl.obolibrary.org/obo/HP_0100529	An abnormality of phosphate homeostasis or concentration in the body.
HP:0100530	Abnormal calcium-phosphate regulating hormone level	biolink:PhenotypicFeature	hp	UMLS:C4022031		Abnormal Ca-PHOS regulating hormone level|Abnormal Ca2+ PO4 regulating hormone level	http://purl.obolibrary.org/obo/HP_0100530	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	biolink:PhenotypicFeature	hp	UMLS:C4022030		Wind-swept deformity of the knees	http://purl.obolibrary.org/obo/HP_0100531	The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.
HP:0100532	Scleritis	biolink:PhenotypicFeature	hp	MSH:D015423|SNOMEDCT_US:78370002|UMLS:C0036416	hposlim_core	Inflammation of the outer white part of the eye	http://purl.obolibrary.org/obo/HP_0100532	Inflammation of the sclera.
HP:0100533	Inflammatory abnormality of the eye	biolink:PhenotypicFeature	hp	UMLS:C4020969		Inflammatory abnormality of the eye|Ocular inflammation	http://purl.obolibrary.org/obo/HP_0100533	Inflammation of the eye, parts of the eye or the periorbital region.
HP:0100534	Episcleritis	biolink:PhenotypicFeature	hp	MSH:D015423|SNOMEDCT_US:815008|UMLS:C0014583	hposlim_core	Inflammation of the thin layer on top of the white part of eye	http://purl.obolibrary.org/obo/HP_0100534	Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.
HP:0100535	Tibiofibular diastasis	biolink:PhenotypicFeature	hp	UMLS:C4022029			http://purl.obolibrary.org/obo/HP_0100535	
HP:0100536	Abnormality of the fascia	biolink:PhenotypicFeature	hp	UMLS:C4022028			http://purl.obolibrary.org/obo/HP_0100536	An abnormality of fascia.
HP:0100537	Fasciitis	biolink:PhenotypicFeature	hp	MSH:D005208|SNOMEDCT_US:36948007|UMLS:C0015645		Inflammation of the fascia	http://purl.obolibrary.org/obo/HP_0100537	Inflammation of fascia, the tissue under the skin and over the muscle.
HP:0100538	Abnormality of the supraorbital ridges	biolink:PhenotypicFeature	hp	UMLS:C4022027		Abnormality of the brow of the face|Deformity of the supraorbital margins|Deformity of the supraorbital ridges|Malformation of the supraorbital margins|Malformation of the supraorbital ridges	http://purl.obolibrary.org/obo/HP_0100538	An anomaly of the supraorbital portion of the frontal bones.
HP:0100539	Periorbital edema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109245003|SNOMEDCT_US:267041004|SNOMEDCT_US:49563000|UMLS:C0149754|UMLS:C0151205|UMLS:C0424810		Periorbital oedema|Periorbital cellulitis	http://purl.obolibrary.org/obo/HP_0100539	Edema affecting the region situated around the orbit of the eye.
HP:0100540	Palpebral edema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:89091004|UMLS:C0162285		Fullness of eyelids|Puffy eyelids|Puffy lids|Swelling of eyelids|Palpebral oedema|Edema of the eyelids|Eyelid edema	http://purl.obolibrary.org/obo/HP_0100540	Edema in the region of the eyelids.
HP:0100541	Femoral hernia	biolink:PhenotypicFeature	hp	MEDDRA:10016434|MSH:D006550|SNOMEDCT_US:50063009|UMLS:C0019288	hposlim_core	Crural hernia	http://purl.obolibrary.org/obo/HP_0100541	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	biolink:PhenotypicFeature	hp	UMLS:C4020968		Abnormal localisation of kidneys	http://purl.obolibrary.org/obo/HP_0100542	An abnormal site of the kidney.
HP:0100543	Cognitive impairment	biolink:PhenotypicFeature	hp	MSH:D060825|SNOMEDCT_US:386806002|UMLS:C0338656|UMLS:C0683322		Abnormality of cognition|Cognitive abnormality|Cognitive defects|Cognitive deficits|Cognitive impairment|Intellectual impairment	http://purl.obolibrary.org/obo/HP_0100543	Abnormality in the process of thought including the ability to process information.
HP:0100544	Neoplasm of the heart	biolink:PhenotypicFeature	hp	MSH:D006338|NCIT:C3262|SNOMEDCT_US:387842002|UMLS:C0018809		Heart tumor|Cardiac neoplasm|Cardiac neoplasia	http://purl.obolibrary.org/obo/HP_0100544	A tumor (abnormal growth of tissue) of the heart.
HP:0100545	Arterial stenosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:68109007|UMLS:C0038449		Narrowing of an artery	http://purl.obolibrary.org/obo/HP_0100545	Narrowing or constriction of the inner surface (lumen) of an artery.
HP:0100546	Carotid artery stenosis	biolink:PhenotypicFeature	hp	MSH:D016893|SNOMEDCT_US:64586002|UMLS:C0007282		Narrowing of carotid artery|Carotid stenosis	http://purl.obolibrary.org/obo/HP_0100546	Narrowing of the carotid arteries.
HP:0100547	Abnormality of forebrain morphology	biolink:PhenotypicFeature	hp	UMLS:C4020967		Abnormal shape of forebrain|Abnormality of the forebrain	http://purl.obolibrary.org/obo/HP_0100547	An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.
HP:0100548	Exstrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:110407002|UMLS:C0015338			http://purl.obolibrary.org/obo/HP_0100548	Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.
HP:0100550	Tendon rupture	biolink:PhenotypicFeature	hp	SNOMEDCT_US:415749005|UMLS:C0151937		Rupture of tendons|Ruptured tendon|Tendon rupture|Tendon/muscle rupture	http://purl.obolibrary.org/obo/HP_0100550	Breakage (tear) of a tendon.
HP:0100551	Neoplasm of the trachea	biolink:PhenotypicFeature	hp	MSH:D014134|NCIT:C3262|SNOMEDCT_US:126703006|UMLS:C0040582		Tracheal neoplasm	http://purl.obolibrary.org/obo/HP_0100551	A neoplasm of the trachea.
HP:0100552	Neoplasm of the tracheobronchial system	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4022026			http://purl.obolibrary.org/obo/HP_0100552	
HP:0100553	Hemihypertrophy of lower limb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:205369009|UMLS:C0431928		Overgrowth of one leg	http://purl.obolibrary.org/obo/HP_0100553	Overgrowth of only one leg.
HP:0100554	Hemihypertrophy of upper limb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253920006|UMLS:C0431810		Overgrowth of one arm	http://purl.obolibrary.org/obo/HP_0100554	Overgrowth of only one arm.
HP:0100555	Asymmetric growth	biolink:PhenotypicFeature	hp	UMLS:C4022025		Uneven or disproportionate growth of one body part compared to another	http://purl.obolibrary.org/obo/HP_0100555	A growth pattern that displays an abnormal difference between the left and the right side.
HP:0100556	Hemiatrophy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:34087007|UMLS:C0333662		Asymmetric limb shortening|Hemiatrophy of the body	http://purl.obolibrary.org/obo/HP_0100556	Undergrowth of the limbs that affects only one side.
HP:0100557	Hemiatrophy of lower limb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:709411004|UMLS:C0431934		Asymmetric lower limb shortening	http://purl.obolibrary.org/obo/HP_0100557	Unilateral atrophy (reduction in size) of a leg.
HP:0100558	Hemiatrophy of upper limb	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253921005|UMLS:C0431814		Asymmetric upper limb shortening|Hemihypotrophy of upper limb	http://purl.obolibrary.org/obo/HP_0100558	Unilateral atrophy (reduction in size) of an arm.
HP:0100559	Lower limb asymmetry	biolink:PhenotypicFeature	hp	MSH:D007870|SNOMEDCT_US:45939007|UMLS:C0023221		Left and right leg differ in length or width|Leg length discrepancy	http://purl.obolibrary.org/obo/HP_0100559	A difference in length or diameter between the left and right leg.
HP:0100560	Upper limb asymmetry	biolink:PhenotypicFeature	hp	UMLS:C4022024	hposlim_core	Unequal size of arms	http://purl.obolibrary.org/obo/HP_0100560	Difference in length or size between the right and left arm.
HP:0100561	Spinal cord lesion	biolink:PhenotypicFeature	hp	UMLS:C0241224			http://purl.obolibrary.org/obo/HP_0100561	
HP:0100562	Diplomyelia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:360527003|UMLS:C1260890		Duplication of spinal cord	http://purl.obolibrary.org/obo/HP_0100562	Duplication of the spinal cord.
HP:0100563	Diastomatomyelia	biolink:PhenotypicFeature	hp	UMLS:C4022023			http://purl.obolibrary.org/obo/HP_0100563	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	biolink:PhenotypicFeature	hp	UMLS:C4022022		Triplication of spinal cord	http://purl.obolibrary.org/obo/HP_0100564	Triplication of the spinal cord - extremely rare.
HP:0100565	Hydromyelia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:11197005|SNOMEDCT_US:74740003|UMLS:C0152444			http://purl.obolibrary.org/obo/HP_0100565	Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.
HP:0100566	Amyelia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:78784005|UMLS:C0266510		Absent spinal cord	http://purl.obolibrary.org/obo/HP_0100566	Congenital absence of the spinal cord.
HP:0100568	Neoplasm of the endocrine system	biolink:PhenotypicFeature	hp	MSH:D004701|NCIT:C3262|SNOMEDCT_US:387922007|SNOMEDCT_US:387927001|UMLS:C0014132		Endocrine neoplasia	http://purl.obolibrary.org/obo/HP_0100568	A tumor (abnormal growth of tissue) of the endocrine system.
HP:0100569	Abnormally ossified vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4020966		Abnormal bone maturation of vertebra|Abnormal vertebral ossification|Abnormality of ossification/mineralisation of vertebrae	http://purl.obolibrary.org/obo/HP_0100569	An abnormality of the formation and mineralization of one or more vertebrae.
HP:0100570	Carcinoid tumor	biolink:PhenotypicFeature	hp	MSH:D002276|SNOMEDCT_US:189607006|SNOMEDCT_US:443492008|UMLS:C0007095		Carcinoid tumour|Carcinoid|Carcinoid tumors	http://purl.obolibrary.org/obo/HP_0100570	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	biolink:PhenotypicFeature	hp	UMLS:C4020965		Ventricular diverticulum	http://purl.obolibrary.org/obo/HP_0100571	A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.
HP:0100572	Fibrous cardiac diverticulum	biolink:PhenotypicFeature	hp	UMLS:C4020964		Congenital ventricular aneurysm	http://purl.obolibrary.org/obo/HP_0100572	A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.
HP:0100573	Muscular cardiac diverticulum	biolink:PhenotypicFeature	hp	UMLS:C4022021			http://purl.obolibrary.org/obo/HP_0100573	
HP:0100574	Biliary tract neoplasm	biolink:PhenotypicFeature	hp	MSH:D001661|NCIT:C3262|SNOMEDCT_US:126853008|UMLS:C0005426|UMLS:C4020709		Neoplasia of the biliary tract	http://purl.obolibrary.org/obo/HP_0100574	A tumor (abnormal growth of tissue) of the biliary system.
HP:0100575	Neoplasm of the gallbladder	biolink:PhenotypicFeature	hp	MSH:D005706|NCIT:C3262|SNOMEDCT_US:126854002|UMLS:C0016978|UMLS:C4020708		Neoplasia of the gallbladder	http://purl.obolibrary.org/obo/HP_0100575	The presence of a neoplasm of the gallbladder.
HP:0100576	Amaurosis fugax	biolink:PhenotypicFeature	hp	MSH:D020757|SNOMEDCT_US:88032003|UMLS:C0149793	hposlim_core		http://purl.obolibrary.org/obo/HP_0100576	A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
HP:0100577	Urinary bladder inflammation	biolink:PhenotypicFeature	hp	MSH:D003556|SNOMEDCT_US:38822007|UMLS:C0010692		Urinary bladder inflammation|Cystitis of the urinary bladder	http://purl.obolibrary.org/obo/HP_0100577	Inflammation of the urinary bladder.
HP:0100578	Lipoatrophy	biolink:PhenotypicFeature	hp	MEDDRA:10024604|SNOMEDCT_US:248315005|UMLS:C1280433	hposlim_core	Loss of fat tissue in localized area|Atrophy of fat	http://purl.obolibrary.org/obo/HP_0100578	Localized loss of fat tissue.
HP:0100579	Mucosal telangiectasiae	biolink:PhenotypicFeature	hp	UMLS:C4022020			http://purl.obolibrary.org/obo/HP_0100579	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	biolink:PhenotypicFeature	hp	MSH:D001471|SNOMEDCT_US:302914006|UMLS:C0004763		Barrett oesophagus|Barret syndrome|Barrett's esophagus|Endobrachyesophagus	http://purl.obolibrary.org/obo/HP_0100580	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	biolink:PhenotypicFeature	hp	UMLS:C4022019		Caliceal dilatation|Caliectasis|Megacalicosis	http://purl.obolibrary.org/obo/HP_0100581	An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.
HP:0100582	Nasal polyposis	biolink:PhenotypicFeature	hp	MSH:D009298|SNOMEDCT_US:52756005|UMLS:C0027430		Nasal polyps|Polyposis nasi|Polys of nose	http://purl.obolibrary.org/obo/HP_0100582	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	biolink:PhenotypicFeature	hp	MSH:D057112|SNOMEDCT_US:74895004|UMLS:C0339293|UMLS:C0948060		Iridocele	http://purl.obolibrary.org/obo/HP_0100583	A rupture of the cornea through which a portion of the iris protrudes.
HP:0100584	Endocarditis	biolink:PhenotypicFeature	hp	MSH:D004696|SNOMEDCT_US:56819008|UMLS:C0014118			http://purl.obolibrary.org/obo/HP_0100584	An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.
HP:0100585	Telangiectasia of the skin	biolink:PhenotypicFeature	hp	UMLS:C4022018		Teleangiectasia of the skin	http://purl.obolibrary.org/obo/HP_0100585	Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
HP:0100586	Sterile pyuria	biolink:PhenotypicFeature	hp	UMLS:C4022017		Aseptic leukocyturia	http://purl.obolibrary.org/obo/HP_0100586	Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.
HP:0100587	Abnormality of the preputium	biolink:PhenotypicFeature	hp	UMLS:C4022016			http://purl.obolibrary.org/obo/HP_0100587	
HP:0100588	Paraphimosis	biolink:PhenotypicFeature	hp	MSH:D010263|SNOMEDCT_US:13758004|UMLS:C0030483			http://purl.obolibrary.org/obo/HP_0100588	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	biolink:PhenotypicFeature	hp	UMLS:C0853877			http://purl.obolibrary.org/obo/HP_0100589	The presence of a fistula affecting the genitourinary system.
HP:0100590	Rectal fistula	biolink:PhenotypicFeature	hp	MSH:D012003|SNOMEDCT_US:80736008|UMLS:C0034884			http://purl.obolibrary.org/obo/HP_0100590	The presence of a fistula affecting the rectum.
HP:0100592	Peritoneal abscess	biolink:PhenotypicFeature	hp	SNOMEDCT_US:73962000|UMLS:C0267756			http://purl.obolibrary.org/obo/HP_0100592	The presence of an abscess of the peritoneum.
HP:0100593	Calcification of cartilage	biolink:PhenotypicFeature	hp	UMLS:C4022015			http://purl.obolibrary.org/obo/HP_0100593	
HP:0100594	Esophageal web	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19216006|SNOMEDCT_US:22395006|UMLS:C0267080	hposlim_core		http://purl.obolibrary.org/obo/HP_0100594	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	biolink:PhenotypicFeature	hp	MSH:C537968|SNOMEDCT_US:13534001|UMLS:C0264162	hposlim_core		http://purl.obolibrary.org/obo/HP_0100595	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	biolink:PhenotypicFeature	hp	UMLS:C4020707|UMLS:C4020963		Missing nostrils|Abouphalia|Aplasia of the nares|Aplasia/Hypoplasia of the nares	http://purl.obolibrary.org/obo/HP_0100596	The nostrils (the paired channels of the nose) are not present.
HP:0100598	Pulmonary edema	biolink:PhenotypicFeature	hp	MSH:D011654|SNOMEDCT_US:19242006|UMLS:C0034063		Excess fluid in lungs|Wet lung|Lung edema|Pulmonary oedema	http://purl.obolibrary.org/obo/HP_0100598	Fluid accumulation in the lungs.
HP:0100599	Bifid penis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253851000|UMLS:C0345322		Penile duplication|Diphallia	http://purl.obolibrary.org/obo/HP_0100599	Two penile structures, separated from the tip to the base of the shaft.
HP:0100600	Penoscrotal transposition	biolink:PhenotypicFeature	hp	MSH:C536650|SNOMEDCT_US:312005008|UMLS:C1868854		Prepenile scrotum	http://purl.obolibrary.org/obo/HP_0100600	A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.
HP:0100601	Eclampsia	biolink:PhenotypicFeature	hp	MSH:D004461|SNOMEDCT_US:15938005|UMLS:C0013537			http://purl.obolibrary.org/obo/HP_0100601	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	biolink:PhenotypicFeature	hp	MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914		Pre-eclampsia	http://purl.obolibrary.org/obo/HP_0100602	Pregnancy-induced hypertension in association with significant amounts of protein in the urine.
HP:0100603	Toxemia of pregnancy	biolink:PhenotypicFeature	hp	MSH:D011225|SNOMEDCT_US:15394000|SNOMEDCT_US:398254007|UMLS:C0032914		Toxaemia of pregnancy|Hypertensive disorder of pregnancy	http://purl.obolibrary.org/obo/HP_0100603	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	biolink:PhenotypicFeature	hp	MSH:D008048|NCIT:C3262|SNOMEDCT_US:126770008|UMLS:C0023761|UMLS:C4020706		Lip tumor|Tumor of the lip|Neoplasia of the lip	http://purl.obolibrary.org/obo/HP_0100604	A tumor (abnormal growth of tissue) of the lip.
HP:0100605	Neoplasm of the larynx	biolink:PhenotypicFeature	hp	MSH:D007822|NCIT:C3262|SNOMEDCT_US:126692004|UMLS:C0023055			http://purl.obolibrary.org/obo/HP_0100605	
HP:0100606	Neoplasm of the respiratory system	biolink:PhenotypicFeature	hp	MSH:D012142|NCIT:C3262|SNOMEDCT_US:126667002|SNOMEDCT_US:448708002|UMLS:C0035244		Respiratory system tumor	http://purl.obolibrary.org/obo/HP_0100606	A tumor (abnormal growth of tissue) of the respiratory system.
HP:0100607	Dysmenorrhea	biolink:PhenotypicFeature	hp	MSH:D004412|SNOMEDCT_US:266599000|SNOMEDCT_US:289900009|SNOMEDCT_US:431416001|UMLS:C0013390		Painful menstruation	http://purl.obolibrary.org/obo/HP_0100607	Pain during menstruation that interferes with daily activities.
HP:0100608	Metrorrhagia	biolink:PhenotypicFeature	hp	MSH:D008796|SNOMEDCT_US:19155002|SNOMEDCT_US:237130006|SNOMEDCT_US:64996003|UMLS:C0025874		Abnormal uterus bleeding|Intermenstrual bleeding|Menstrual spotting	http://purl.obolibrary.org/obo/HP_0100608	Bleeding at irregular intervals.
HP:0100609	obsolete Hypermenorrhea	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0100609	
HP:0100610	Maternal hyperphenylalaninemia	biolink:PhenotypicFeature	hp	UMLS:C4022014		High blood phenylalanine level in mother	http://purl.obolibrary.org/obo/HP_0100610	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	biolink:PhenotypicFeature	hp	UMLS:C4020705|UMLS:C4022013		Glomerulocystic kidney disease	http://purl.obolibrary.org/obo/HP_0100611	The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.
HP:0100612	Odontogenic neoplasm	biolink:PhenotypicFeature	hp	MSH:D009808|NCIT:C3286|SNOMEDCT_US:127578009|SNOMEDCT_US:3833004|UMLS:C0028880	hposlim_core	Odontogenic tumor	http://purl.obolibrary.org/obo/HP_0100612	Neoplasm involving odontogenic cells, an odontogenic tumor.
HP:0100613	Death in early adulthood	biolink:PhenotypicFeature	hp	UMLS:C4022012		Death in early adulthood	http://purl.obolibrary.org/obo/HP_0100613	Death between the age of 16 and 40 years.
HP:0100614	Myositis	biolink:PhenotypicFeature	hp	MSH:D009220|SNOMEDCT_US:128496001|SNOMEDCT_US:26889001|UMLS:C0027121		Muscle inflammation	http://purl.obolibrary.org/obo/HP_0100614	A general term for inflammation of the muscles without respect to the underlying cause.
HP:0100615	Ovarian neoplasm	biolink:PhenotypicFeature	hp	MSH:D010051|NCIT:C3262|SNOMEDCT_US:123843001|UMLS:C0919267		Ovarian cancer|Ovarian tumor|Neoplasm of the ovaries|Neoplasm of the ovary|Ovarian neoplasia	http://purl.obolibrary.org/obo/HP_0100615	A tumor (abnormal growth of tissue) of the ovary.
HP:0100616	Testicular teratoma	biolink:PhenotypicFeature	hp	MSH:C562472|NCIT:C3403|UMLS:C0238451			http://purl.obolibrary.org/obo/HP_0100616	The presence of a teratoma of the testis.
HP:0100617	Testicular seminoma	biolink:PhenotypicFeature	hp	MSH:D018239|NCIT:C9309|SNOMEDCT_US:255107005|SNOMEDCT_US:36741007|SNOMEDCT_US:443675005|UMLS:C0036631			http://purl.obolibrary.org/obo/HP_0100617	The presence of a seminoma, an undifferentiated germ cell tumor of the testis.
HP:0100618	Leydig cell neoplasia	biolink:PhenotypicFeature	hp	NCIT:C3188|UMLS:C4022011			http://purl.obolibrary.org/obo/HP_0100618	The presence of a neoplasm of the testis with origin in a Leydig cell.
HP:0100619	Sertoli cell neoplasm	biolink:PhenotypicFeature	hp	NCIT:C39976|UMLS:C4020704		Sertoli cell neoplasia	http://purl.obolibrary.org/obo/HP_0100619	The presence of a neoplasm of the testis with origin in a Sertoli cell.
HP:0100620	Germinoma	biolink:PhenotypicFeature	hp	MSH:D018237|SNOMEDCT_US:28307001|UMLS:C0206660			http://purl.obolibrary.org/obo/HP_0100620	A type of undifferentiated germ cell tumor that may be benign or malignant.
HP:0100621	Dysgerminoma	biolink:PhenotypicFeature	hp	MSH:D004407|NCIT:C2996|SNOMEDCT_US:60718004|UMLS:C0013377			http://purl.obolibrary.org/obo/HP_0100621	The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
HP:0100622	Maternal seizure	biolink:PhenotypicFeature	hp	UMLS:C4022010		Maternal seizures	http://purl.obolibrary.org/obo/HP_0100622	A seizure during pregnancy.
HP:0100623	Abnormality of corpus cavernosum	biolink:PhenotypicFeature	hp	UMLS:C4022009			http://purl.obolibrary.org/obo/HP_0100623	
HP:0100624	Corpus cavernosum sclerosis	biolink:PhenotypicFeature	hp	UMLS:C4022008			http://purl.obolibrary.org/obo/HP_0100624	
HP:0100625	Enlarged thorax	biolink:PhenotypicFeature	hp	UMLS:C4020962		Wide rib cage|Wide thorax	http://purl.obolibrary.org/obo/HP_0100625	
HP:0100626	Chronic hepatic failure	biolink:PhenotypicFeature	hp	MSH:D058625|SNOMEDCT_US:235886005|UMLS:C2936476		Chronic liver failure	http://purl.obolibrary.org/obo/HP_0100626	
HP:0100627	Displacement of the urethral meatus	biolink:PhenotypicFeature	hp	UMLS:C4020961		Displacement of the external urethral orifice|Displacement of the male external urethral orifice	http://purl.obolibrary.org/obo/HP_0100627	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	biolink:PhenotypicFeature	hp	MSH:D004936|SNOMEDCT_US:204667006|SNOMEDCT_US:414133009|UMLS:C0014854		Esophageal pouch	http://purl.obolibrary.org/obo/HP_0100628	The presence of a diverticulum of the esophagus.
HP:0100629	Midline facial cleft	biolink:PhenotypicFeature	hp	UMLS:C4022007		Midline facial cleft	http://purl.obolibrary.org/obo/HP_0100629	A congenital malformation with a cleft (gap or opening) in the midline of the face.
HP:0100630	Neoplasia of the nasopharynx	biolink:PhenotypicFeature	hp	MSH:D009303|NCIT:C3262|SNOMEDCT_US:126680004|UMLS:C0027439		Nasopharyngeal neoplasm|Neoplasm of the nasopharynx|Tumor of the nasopharynx	http://purl.obolibrary.org/obo/HP_0100630	
HP:0100631	Neoplasm of the adrenal gland	biolink:PhenotypicFeature	hp	MSH:D000310|NCIT:C3262|SNOMEDCT_US:127021009|UMLS:C0001624		Adrenal neoplasia	http://purl.obolibrary.org/obo/HP_0100631	A tumor (abnormal growth of tissue) of the adrenal gland.
HP:0100632	Pulmonary sequestration	biolink:PhenotypicFeature	hp	MSH:D001998|SNOMEDCT_US:18620009|UMLS:C0006288|UMLS:C4020703		Cystic lung lesion	http://purl.obolibrary.org/obo/HP_0100632	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	biolink:PhenotypicFeature	hp	MEDDRA:10030216|MSH:D004941|SNOMEDCT_US:16761005|UMLS:C0014868	hposlim_core	Inflammation of the esophagus|Oesophagitis	http://purl.obolibrary.org/obo/HP_0100633	Inflammation of the esophagus.
HP:0100634	Neuroendocrine neoplasm	biolink:PhenotypicFeature	hp	MSH:D018358|SNOMEDCT_US:128928004|SNOMEDCT_US:255046005|UMLS:C0206754		Neuroendocrine neoplasia	http://purl.obolibrary.org/obo/HP_0100634	A tumor that originates from a neuroendocrine cell.
HP:0100635	Carotid paraganglioma	biolink:PhenotypicFeature	hp	UMLS:C4022005			http://purl.obolibrary.org/obo/HP_0100635	A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.
HP:0100636	Pulmonary paraglioma	biolink:PhenotypicFeature	hp	UMLS:C4022004			http://purl.obolibrary.org/obo/HP_0100636	A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.
HP:0100637	obsolete Neoplasia of the nose	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0100637	
HP:0100638	Neoplasm of the pharynx	biolink:PhenotypicFeature	hp	MSH:D010610|NCIT:C3262|SNOMEDCT_US:126685009|UMLS:C0031347		Neoplasia of the pharynx|Pharyngeal neoplasm|Tumor of the pharynx	http://purl.obolibrary.org/obo/HP_0100638	A neoplasm originating in the pharynx.
HP:0100639	Erectile dysfunction	biolink:PhenotypicFeature	hp			Abnormal erection|Erectile abnormalities	http://purl.obolibrary.org/obo/HP_0100639	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195867000|UMLS:C0339880			http://purl.obolibrary.org/obo/HP_0100640	Presence of a cyst (sac-like structure) located in the larynx.
HP:0100641	Neoplasm of the adrenal cortex	biolink:PhenotypicFeature	hp	MSH:D000306|NCIT:C3262|SNOMEDCT_US:127022002|SNOMEDCT_US:18365006|UMLS:C0001618		Cortical adrenal neoplasia	http://purl.obolibrary.org/obo/HP_0100641	The presence of a neoplasm of the adrenal cortex.
HP:0100642	Neoplasm of the adrenal medulla	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:127023007|UMLS:C0596046		Medullar adrenal neoplasia	http://purl.obolibrary.org/obo/HP_0100642	The presence of a neoplasm of the adrenal medulla.
HP:0100643	Abnormality of nail color	biolink:PhenotypicFeature	hp	UMLS:C4020960		Abnormality of nail color|Abnormality of nail colour|Nail dyschromia	http://purl.obolibrary.org/obo/HP_0100643	An anomaly of the color of the nail.
HP:0100644	Melanonychia	biolink:PhenotypicFeature	hp	MEDDRA:10058330|SNOMEDCT_US:402633003|UMLS:C1142305			http://purl.obolibrary.org/obo/HP_0100644	Brown or black discoloration of the nails.
HP:0100645	Cystocele	biolink:PhenotypicFeature	hp	ICD-9:618.00|SNOMEDCT_US:252005008|UMLS:C1394494		Bladder hernia|Dropped bladder|Bladder prolapse|Prolapsed bladder	http://purl.obolibrary.org/obo/HP_0100645	Anterior vaginal wall prolapse with bulging of the bladder into the vagina.
HP:0100646	Thyroiditis	biolink:PhenotypicFeature	hp	MSH:D013966|SNOMEDCT_US:82119001|UMLS:C0040147		Thyroid gland inflammation	http://purl.obolibrary.org/obo/HP_0100646	Inflammation of the thyroid gland.
HP:0100647	Graves disease	biolink:PhenotypicFeature	hp	MSH:D006111|SNOMEDCT_US:353295004|SNOMEDCT_US:55807009|UMLS:C0018213		Morbus Basedow	http://purl.obolibrary.org/obo/HP_0100647	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	biolink:PhenotypicFeature	hp	MSH:D014062|NCIT:C3262|SNOMEDCT_US:126778001|UMLS:C0040411			http://purl.obolibrary.org/obo/HP_0100648	A tumor (abnormal growth of tissue) of the tongue.
HP:0100649	Neoplasm of the oral cavity	biolink:PhenotypicFeature	hp	MSH:D009062|NCIT:C3262|SNOMEDCT_US:1071000119107|SNOMEDCT_US:126797001|SNOMEDCT_US:235075007|UMLS:C0026640|UMLS:C0149744|UMLS:C4280289		Tumor of oral cavity|Lesion of oral cavity	http://purl.obolibrary.org/obo/HP_0100649	A tumor (abnormal growth of tissue) of the oral cavity.
HP:0100650	Vaginal neoplasm	biolink:PhenotypicFeature	hp	MSH:D014625|NCIT:C3262|SNOMEDCT_US:126921000|UMLS:C0042258|UMLS:C0750081		Vaginal tumor|Vaginal neoplasia	http://purl.obolibrary.org/obo/HP_0100650	A tumor (abnormal growth of tissue) of the vagina.
HP:0100651	Type I diabetes mellitus	biolink:PhenotypicFeature	hp	MSH:D003922|SNOMEDCT_US:46635009|UMLS:C0011854		Type 1 diabetes|Type I diabetes|Diabetes mellitus Type I|Juvenile diabetes mellitus|Insulin-dependent diabetes mellitus	http://purl.obolibrary.org/obo/HP_0100651	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	biolink:PhenotypicFeature	hp	MSH:D009902|SNOMEDCT_US:66760008|UMLS:C0029134			http://purl.obolibrary.org/obo/HP_0100653	Inflammation of the optic nerve.
HP:0100654	Retrobulbar optic neuritis	biolink:PhenotypicFeature	hp	MSH:D009902|SNOMEDCT_US:230507009|UMLS:C0085582		Retrobulbar neuritis	http://purl.obolibrary.org/obo/HP_0100654	Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.
HP:0100656	Thoracoabdominal wall defect	biolink:PhenotypicFeature	hp	UMLS:C4022002		Thoracoabdominal schisis	http://purl.obolibrary.org/obo/HP_0100656	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:44518003|UMLS:C0266682		Celosomia|Kelosomia	http://purl.obolibrary.org/obo/HP_0100657	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	biolink:PhenotypicFeature	hp	MSH:D002481|MSH:D017192|SNOMEDCT_US:128045006|SNOMEDCT_US:128936008|SNOMEDCT_US:385627004|UMLS:C0007642|UMLS:C0162627	hposlim_core	Bacterial infection of skin|Skin infection|Skin infections	http://purl.obolibrary.org/obo/HP_0100658	A bacterial infection and inflammation of the skin und subcutaneous tissues.
HP:0100659	Abnormality of the cerebral vasculature	biolink:PhenotypicFeature	hp	UMLS:C4022001		Abnormality of the cerebral blood vessels	http://purl.obolibrary.org/obo/HP_0100659	An anomaly of the cerebral blood vessels.
HP:0100660	Dyskinesia	biolink:PhenotypicFeature	hp	MSH:D020820|SNOMEDCT_US:9748009|UMLS:C0013384		Disorder of involuntary muscle movements|Dyskinesis|Dyskinesias	http://purl.obolibrary.org/obo/HP_0100660	A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
HP:0100661	Trigeminal neuralgia	biolink:PhenotypicFeature	hp	MSH:D014277|SNOMEDCT_US:31681005|UMLS:C0040997		Tic douloureux	http://purl.obolibrary.org/obo/HP_0100661	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46176001|UMLS:C0008439		Cartilage inflammation	http://purl.obolibrary.org/obo/HP_0100662	Inflammation of cartilage.
HP:0100663	Synotia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77471004|UMLS:C0266677			http://purl.obolibrary.org/obo/HP_0100663	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	biolink:PhenotypicFeature	hp	MSH:D000799|SNOMEDCT_US:400075008|SNOMEDCT_US:41291007|UMLS:C0002994		Angioneurotic oedema|Angiooedema|Quincke edema	http://purl.obolibrary.org/obo/HP_0100665	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3845008|UMLS:C0266166|UMLS:C4020702		Bowel duplication|Gut duplication	http://purl.obolibrary.org/obo/HP_0100668	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	biolink:PhenotypicFeature	hp	UMLS:C4020959		Abnormal color of the oral mucosa|Abnormal pigmentation of oral cavity|Abnormal pigmentation of oral mucous membrane|Abnormal pigmentation of the oral mucosa/gingivae	http://purl.obolibrary.org/obo/HP_0100669	An abnormality of the pigmentation of the mucosa of the mouth.
HP:0100670	Coarse metaphyseal trabecularization	biolink:PhenotypicFeature	hp	UMLS:C4020958		Coarse trabeculation at metaphyses|Rough bone trabeculation|Rough trabeculation of bone	http://purl.obolibrary.org/obo/HP_0100670	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	biolink:PhenotypicFeature	hp	UMLS:C4020957		Abnormal shape of spongy bone|Abnormality of bone trabeculation	http://purl.obolibrary.org/obo/HP_0100671	Abnormal structure or form of trabecular bone.
HP:0100672	Vaginal hernia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:397786004|UMLS:C1442998			http://purl.obolibrary.org/obo/HP_0100672	The presence of a hernia of the vagina.
HP:0100673	Vaginal hydrocele	biolink:PhenotypicFeature	hp	MSH:D006848|SNOMEDCT_US:26614003|SNOMEDCT_US:386152007|SNOMEDCT_US:55434001|UMLS:C1720771			http://purl.obolibrary.org/obo/HP_0100673	
HP:0100674	Vaginal hematocele	biolink:PhenotypicFeature	hp	UMLS:C1456401			http://purl.obolibrary.org/obo/HP_0100674	
HP:0100675	Vaginal pyocele	biolink:PhenotypicFeature	hp	UMLS:C4022000			http://purl.obolibrary.org/obo/HP_0100675	
HP:0100676	Vaginal lymphocele	biolink:PhenotypicFeature	hp	UMLS:C4021999			http://purl.obolibrary.org/obo/HP_0100676	
HP:0100677	Vulval varicose vein	biolink:PhenotypicFeature	hp	SNOMEDCT_US:48868008|UMLS:C0155796			http://purl.obolibrary.org/obo/HP_0100677	Varicosity of veins in the vulval region.
HP:0100678	Premature skin wrinkling	biolink:PhenotypicFeature	hp	MEDDRA:10040954|MSH:D015595|SNOMEDCT_US:247434009|UMLS:C0037301	hposlim_core	Premature skin wrinkling|Wrinkled skin	http://purl.obolibrary.org/obo/HP_0100678	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:297957009|UMLS:C0558242|UMLS:C4021998		Tight skin	http://purl.obolibrary.org/obo/HP_0100679	
HP:0100681	Esophageal duplication	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66865009|UMLS:C0266135			http://purl.obolibrary.org/obo/HP_0100681	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:53189005|UMLS:C0265766			http://purl.obolibrary.org/obo/HP_0100682	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	biolink:PhenotypicFeature	hp	MSH:D012468|NCIT:C3262|SNOMEDCT_US:235132004|SNOMEDCT_US:255072001|UMLS:C0036095|UMLS:C0220636		Tumor of salivary gland|Cancer of salivary gland|Salivary gland neoplasia	http://purl.obolibrary.org/obo/HP_0100684	A tumor (abnormal growth of tissue) of a salivary gland.
HP:0100685	Abnormal Sharpey fiber morphology	biolink:PhenotypicFeature	hp	UMLS:C4020701|UMLS:C4021997		Abnormal Sharpey fibre morphology|Abnormality of Sharpey fibers|Enthesis abnormality	http://purl.obolibrary.org/obo/HP_0100685	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:359643005|UMLS:C1282952		Inflammation of sharpey fibers	http://purl.obolibrary.org/obo/HP_0100686	
HP:0100687	Polyotia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:35547002|UMLS:C0266611			http://purl.obolibrary.org/obo/HP_0100687	The presence of an extra auricle on one or both sides of the head.
HP:0100689	Decreased corneal thickness	biolink:PhenotypicFeature	hp	SNOMEDCT_US:423459005|UMLS:C1096274		Thin cornea	http://purl.obolibrary.org/obo/HP_0100689	A decreased anteroposterior thickness of the cornea.
HP:0100690	Mosaic central corneal dystrophy	biolink:PhenotypicFeature	hp	UMLS:C4021996			http://purl.obolibrary.org/obo/HP_0100690	
HP:0100691	Abnormality of the curvature of the cornea	biolink:PhenotypicFeature	hp	UMLS:C4021995			http://purl.obolibrary.org/obo/HP_0100691	
HP:0100692	Increased corneal curvature	biolink:PhenotypicFeature	hp	UMLS:C4020956		Steep corneal curvature	http://purl.obolibrary.org/obo/HP_0100692	An increase in the degree of curvature of the cornea compared to normal.
HP:0100693	Iridodonesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:118166004|UMLS:C0423320			http://purl.obolibrary.org/obo/HP_0100693	Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.
HP:0100694	Tibial torsion	biolink:PhenotypicFeature	hp	SNOMEDCT_US:249785006|UMLS:C0426900			http://purl.obolibrary.org/obo/HP_0100694	Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.
HP:0100695	Lipedema	biolink:PhenotypicFeature	hp	MSH:D065134|SNOMEDCT_US:234102003|UMLS:C0398370			http://purl.obolibrary.org/obo/HP_0100695	Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .
HP:0100697	Neurofibrosarcoma	biolink:PhenotypicFeature	hp	MSH:D009442|MSH:D018319|NCIT:C3798|SNOMEDCT_US:19897006|SNOMEDCT_US:404037002|SNOMEDCT_US:77418004|UMLS:C0206729|UMLS:C0751690		Malignant peripheral nerve sheath tumor|Malignant schwannoma|Neurosarcoma	http://purl.obolibrary.org/obo/HP_0100697	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:425327002|UMLS:C1827970			http://purl.obolibrary.org/obo/HP_0100698	The presence of Neurofibromas in the subcutis.
HP:0100699	Scarring	biolink:PhenotypicFeature	hp	MSH:D002921|SNOMEDCT_US:48677004|UMLS:C0008767		Scarring|Scar tissue	http://purl.obolibrary.org/obo/HP_0100699	
HP:0100700	Abnormal arachnoid mater morphology	biolink:PhenotypicFeature	hp	UMLS:C4020955		Abnormality of the arachnoid mater|Abnormality of the arachnoidea	http://purl.obolibrary.org/obo/HP_0100700	An abnormality of the Arachnoid mater.
HP:0100701	Abnormal pia mater	biolink:PhenotypicFeature	hp	UMLS:C4021994		Abnormality of the pia mater	http://purl.obolibrary.org/obo/HP_0100701	An abnormality of the pia mater.
HP:0100702	Arachnoid cyst	biolink:PhenotypicFeature	hp	MSH:D016080|SNOMEDCT_US:33595009|UMLS:C0078981		Fluid-filled sac located in membrane surrounding brain or spinal cord|Arachnoid cysts	http://purl.obolibrary.org/obo/HP_0100702	An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
HP:0100703	Tongue thrusting	biolink:PhenotypicFeature	hp	SNOMEDCT_US:110343009|SNOMEDCT_US:424583005|UMLS:C1829460		Tongue thrusting	http://purl.obolibrary.org/obo/HP_0100703	
HP:0100704	Cerebral visual impairment	biolink:PhenotypicFeature	hp	MSH:D019575|SNOMEDCT_US:413924001|SNOMEDCT_US:68574006|UMLS:C0155320|UMLS:C4048268		CVI|Cortical blindness|Cortical visual impairment|Cortical/cerebral visual impairment	http://purl.obolibrary.org/obo/HP_0100704	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	biolink:PhenotypicFeature	hp	UMLS:C4021993		Abnormality of the glial cells	http://purl.obolibrary.org/obo/HP_0100705	An abnormality of the glia cell.
HP:0100706	Abnormal oligodendroglia morphology	biolink:PhenotypicFeature	hp	UMLS:C4021992		Abnormality of the oligodendroglia	http://purl.obolibrary.org/obo/HP_0100706	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	biolink:PhenotypicFeature	hp	UMLS:C4021991		Abnormality of the astrocytes	http://purl.obolibrary.org/obo/HP_0100707	An abnormality of astrocytes.
HP:0100708	Abnormal microglia morphology	biolink:PhenotypicFeature	hp	UMLS:C4021990		Abnormality of the microglia	http://purl.obolibrary.org/obo/HP_0100708	An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.
HP:0100709	Reduction of oligodendroglia	biolink:PhenotypicFeature	hp	UMLS:C4021852			http://purl.obolibrary.org/obo/HP_0100709	
HP:0100710	Impulsivity	biolink:PhenotypicFeature	hp	MSH:D007175|UMLS:C0021125		Impulsive|Impulsivity	http://purl.obolibrary.org/obo/HP_0100710	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	biolink:PhenotypicFeature	hp	UMLS:C4021989		Abnormality of the thoracic spine	http://purl.obolibrary.org/obo/HP_0100711	An abnormality of the thoracic vertebral column.
HP:0100712	Abnormal lumbar spine morphology	biolink:PhenotypicFeature	hp	UMLS:C4021988		Abnormality of the lumbar spine	http://purl.obolibrary.org/obo/HP_0100712	Any structural abnormality of the lumbar vertebral column.
HP:0100716	Self-injurious behavior	biolink:PhenotypicFeature	hp	MSH:D016728|SNOMEDCT_US:248062006|UMLS:C0085271		Self-injurious behavior|Self-injurious behaviour|Self-injurious behaviors|Autoagression|Self injury|Self-harm	http://purl.obolibrary.org/obo/HP_0100716	Aggression towards oneself.
HP:0100717	Abnormality of the cementum	biolink:PhenotypicFeature	hp	UMLS:C4021987			http://purl.obolibrary.org/obo/HP_0100717	
HP:0100718	Uterine rupture	biolink:PhenotypicFeature	hp	MSH:D014597|SNOMEDCT_US:34430009|UMLS:C0042143			http://purl.obolibrary.org/obo/HP_0100718	
HP:0100719	Lens coloboma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204134008|UMLS:C0344516	hposlim_core		http://purl.obolibrary.org/obo/HP_0100719	A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.
HP:0100720	Hypoplasia of the ear cartilage	biolink:PhenotypicFeature	hp	UMLS:C4021986		Underdeveloped ear cartilage	http://purl.obolibrary.org/obo/HP_0100720	
HP:0100721	Mediastinal lymphadenopathy	biolink:PhenotypicFeature	hp	SNOMEDCT_US:52324001|UMLS:C0520743		Swollen lymph nodes in center of chest	http://purl.obolibrary.org/obo/HP_0100721	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	biolink:PhenotypicFeature	hp	MSH:D046152|SNOMEDCT_US:128755003|SNOMEDCT_US:420120006|UMLS:C0238198		GI stroma tumor|GIST|Gastrointestinal stroma tumour|Gastrointestinal stromal tumor|Gastrointestinal stromal tumors	http://purl.obolibrary.org/obo/HP_0100723	
HP:0100724	Hypercoagulability	biolink:PhenotypicFeature	hp	MSH:D019851|SNOMEDCT_US:234467004|SNOMEDCT_US:76612001|UMLS:C0398623		Blood hyperviscosity|Thrombophilia	http://purl.obolibrary.org/obo/HP_0100724	An abnormality of coagulation associated with an increased risk of thrombosis.
HP:0100725	Lichenification	biolink:PhenotypicFeature	hp	SNOMEDCT_US:19940005|SNOMEDCT_US:402237006|UMLS:C0023653			http://purl.obolibrary.org/obo/HP_0100725	Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
HP:0100726	Kaposi's sarcoma	biolink:PhenotypicFeature	hp	MSH:D012514|SNOMEDCT_US:109385007|SNOMEDCT_US:49937004|UMLS:C0036220			http://purl.obolibrary.org/obo/HP_0100726	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	biolink:PhenotypicFeature	hp	MSH:D015614|SNOMEDCT_US:60657004|SNOMEDCT_US:65396000|UMLS:C0019618			http://purl.obolibrary.org/obo/HP_0100727	An excessive number of histiocytes (tissue macrophages).
HP:0100728	Germ cell neoplasia	biolink:PhenotypicFeature	hp	NCIT:C3708|UMLS:C4021985			http://purl.obolibrary.org/obo/HP_0100728	
HP:0100729	Large face	biolink:PhenotypicFeature	hp	UMLS:C2748652		Big face|Large face|Large facies	http://purl.obolibrary.org/obo/HP_0100729	
HP:0100730	Bronchogenic cyst	biolink:PhenotypicFeature	hp	MSH:D001994|SNOMEDCT_US:268194008|SNOMEDCT_US:9550003|UMLS:C0006281			http://purl.obolibrary.org/obo/HP_0100730	A rare congenital cystic lesion of the lungs in the mediastinum.
HP:0100731	Transverse facial cleft	biolink:PhenotypicFeature	hp	UMLS:C4020954		Lateral facial cleft	http://purl.obolibrary.org/obo/HP_0100731	A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.
HP:0100732	Pancreatic fibrosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:25942009|UMLS:C0267952			http://purl.obolibrary.org/obo/HP_0100732	
HP:0100733	Neoplasm of the parathyroid gland	biolink:PhenotypicFeature	hp	MSH:D010282|NCIT:C3262|SNOMEDCT_US:127020005|UMLS:C0030521		Parathyroid neoplasia	http://purl.obolibrary.org/obo/HP_0100733	A tumor (abnormal growth of tissue) of the parathyroid gland.
HP:0100734	Abnormality of vertebral epiphysis morphology	biolink:PhenotypicFeature	hp	UMLS:C4020953		Abnormal shape of the end part of the vertebra bone|Abnormality of the vertebral epiphyses	http://purl.obolibrary.org/obo/HP_0100734	An anomaly of one or more epiphyses of one or more vertebrae.
HP:0100735	Hypertensive crisis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:706882009|UMLS:C0020546			http://purl.obolibrary.org/obo/HP_0100735	
HP:0100736	Abnormal soft palate morphology	biolink:PhenotypicFeature	hp	UMLS:C4021984		Abnormality of the muscular palate|Abnormality of the soft palate|Abnormality of the velum|Abnormality of the velum palatinum	http://purl.obolibrary.org/obo/HP_0100736	An abnormality of the soft palate.
HP:0100737	Abnormal hard palate morphology	biolink:PhenotypicFeature	hp	UMLS:C4021983		Abnormality of the secondary palate|Abnormality of the hard palate	http://purl.obolibrary.org/obo/HP_0100737	
HP:0100738	Abnormal eating behavior	biolink:PhenotypicFeature	hp	UMLS:C4021982		Abnormal eating behavior|Abnormal eating behaviour	http://purl.obolibrary.org/obo/HP_0100738	Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
HP:0100739	Bulimia	biolink:PhenotypicFeature	hp	MSH:D002032|SNOMEDCT_US:78004001|UMLS:C0006370		Binge and purge	http://purl.obolibrary.org/obo/HP_0100739	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	biolink:PhenotypicFeature	hp	MSH:D009383|MSH:D019043|NCIT:C3262|SNOMEDCT_US:115235003|SNOMEDCT_US:126736007|SNOMEDCT_US:699605009|UMLS:C0027668|UMLS:C0282607		Blood vessel tumor	http://purl.obolibrary.org/obo/HP_0100742	A benign or malignant neoplasm (tumour) originating in the vascular system.
HP:0100743	Neoplasm of the rectum	biolink:PhenotypicFeature	hp	MSH:D012004|NCIT:C3262|SNOMEDCT_US:126847008|UMLS:C0034885		Rectal tumor	http://purl.obolibrary.org/obo/HP_0100743	
HP:0100744	Abnormality of the humeroradial joint	biolink:PhenotypicFeature	hp	UMLS:C4021981			http://purl.obolibrary.org/obo/HP_0100744	
HP:0100745	Abnormality of the humeroulnar joint	biolink:PhenotypicFeature	hp	UMLS:C4021980			http://purl.obolibrary.org/obo/HP_0100745	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	biolink:PhenotypicFeature	hp	MSH:C537720|SNOMEDCT_US:297195000|UMLS:C0574044		Macrodactyly of hands	http://purl.obolibrary.org/obo/HP_0100746	A type of Macrodactyly affecting one or several fingers.
HP:0100747	Macrodactyly of toe	biolink:PhenotypicFeature	hp	MSH:C537719|UMLS:C2931596		Foot macrodactyly	http://purl.obolibrary.org/obo/HP_0100747	A type of Macrodactyly affecting one or several toes.
HP:0100748	Muscular edema	biolink:PhenotypicFeature	hp	UMLS:C4021979		Muscular oedema	http://purl.obolibrary.org/obo/HP_0100748	
HP:0100749	Chest pain	biolink:PhenotypicFeature	hp	MSH:D002637|SNOMEDCT_US:29857009|UMLS:C0008031		Chest pain|Thoracic pain	http://purl.obolibrary.org/obo/HP_0100749	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
HP:0100750	Atelectasis	biolink:PhenotypicFeature	hp	MSH:D001261|SNOMEDCT_US:46621007|UMLS:C0004144		Partial or complete collapse of part or entire lung|Pulmonary atelectasis	http://purl.obolibrary.org/obo/HP_0100750	Collapse of part of a lung associated with absence of inflation (air) of that part.
HP:0100751	Esophageal neoplasm	biolink:PhenotypicFeature	hp	MSH:D004938|NCIT:C3262|SNOMEDCT_US:126817006|UMLS:C0014859		Esophageal tumor	http://purl.obolibrary.org/obo/HP_0100751	A tumor (abnormal growth of tissue) of the esophagus.
HP:0100752	Abnormal liver lobulation	biolink:PhenotypicFeature	hp	SNOMEDCT_US:253811003|UMLS:C0345286		Anomalous liver lobulation|Hepatic anomalous lobulation	http://purl.obolibrary.org/obo/HP_0100752	Formation of abnormal lobules (small masses of tissue) in the liver.
HP:0100753	Schizophrenia	biolink:PhenotypicFeature	hp	MSH:D012559|SNOMEDCT_US:191526005|SNOMEDCT_US:58214004|UMLS:C0036341			http://purl.obolibrary.org/obo/HP_0100753	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	biolink:PhenotypicFeature	hp	MSH:D001714|SNOMEDCT_US:231494001|UMLS:C0338831		Manic	http://purl.obolibrary.org/obo/HP_0100754	A state of abnormally elevated or irritable mood, arousal, and or energy levels.
HP:0100755	Abnormality of salivation	biolink:PhenotypicFeature	hp	UMLS:C4021978		Abnormal spit|Abnormality of salivation	http://purl.obolibrary.org/obo/HP_0100755	
HP:0100757	Pancreatoblastoma	biolink:PhenotypicFeature	hp	MSH:C537162|SNOMEDCT_US:53618008|UMLS:C0334489			http://purl.obolibrary.org/obo/HP_0100757	A rare pediatric carcinoma of the pancreas.
HP:0100758	Gangrene	biolink:PhenotypicFeature	hp	MSH:D005734|SNOMEDCT_US:36024000|SNOMEDCT_US:372070002|UMLS:C0017086		Death of body tissue due to lack of blood flow or infection	http://purl.obolibrary.org/obo/HP_0100758	A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
HP:0100759	Clubbing of fingers	biolink:PhenotypicFeature	hp	MEDDRA:10016680|MSH:D010005|SNOMEDCT_US:30760008|UMLS:C0009080	hposlim_core	Clubbed fingers|Clubbing (hands)|Clubbing of fingers|Finger clubbing	http://purl.obolibrary.org/obo/HP_0100759	Terminal broadening of the fingers (distal phalanges of the fingers).
HP:0100760	Clubbing of toes	biolink:PhenotypicFeature	hp	MSH:D003025|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003|SNOMEDCT_US:53148007|UMLS:C0009081|UMLS:C3887489		Clubbed toes	http://purl.obolibrary.org/obo/HP_0100760	Terminal broadening of the toes (distal phalanges of the toes).
HP:0100761	Visceral angiomatosis	biolink:PhenotypicFeature	hp	UMLS:C4021977			http://purl.obolibrary.org/obo/HP_0100761	
HP:0100762	Hemobilia	biolink:PhenotypicFeature	hp	MSH:D006431|SNOMEDCT_US:66556007|UMLS:C0018994		Haemobilia	http://purl.obolibrary.org/obo/HP_0100762	Bleeding into the biliary tree.
HP:0100763	Abnormality of the lymphatic system	biolink:PhenotypicFeature	hp	MSH:D008206|SNOMEDCT_US:111590001|SNOMEDCT_US:234087005|SNOMEDCT_US:3305006|SNOMEDCT_US:362971004|UMLS:C0024228|UMLS:C4021976		Lymphatic disease	http://purl.obolibrary.org/obo/HP_0100763	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	biolink:PhenotypicFeature	hp	MSH:D008202|NCIT:C8965|SNOMEDCT_US:253057002|SNOMEDCT_US:254836000|SNOMEDCT_US:400178008|SNOMEDCT_US:69044001|UMLS:C0024221			http://purl.obolibrary.org/obo/HP_0100764	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	biolink:PhenotypicFeature	hp	UMLS:C4021975			http://purl.obolibrary.org/obo/HP_0100765	An abnormality of the tonsils.
HP:0100766	Abnormal lymphatic vessel morphology	biolink:PhenotypicFeature	hp	UMLS:C4021974		Abnormality of the lymphatic vessels	http://purl.obolibrary.org/obo/HP_0100766	A structural anomaly of the vessel that contains or conveys lymph fluid.
HP:0100767	Abnormal placenta morphology	biolink:PhenotypicFeature	hp	SNOMEDCT_US:169957005|SNOMEDCT_US:33552005|UMLS:C1306893		Placental issue|Abnormality of the placenta	http://purl.obolibrary.org/obo/HP_0100767	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	biolink:PhenotypicFeature	hp	MSH:D002822|SNOMEDCT_US:188188009|SNOMEDCT_US:44769000|UMLS:C0008497			http://purl.obolibrary.org/obo/HP_0100768	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	biolink:PhenotypicFeature	hp	MSH:D013585|SNOMEDCT_US:416209007|UMLS:C0039103			http://purl.obolibrary.org/obo/HP_0100769	
HP:0100770	Hyperperistalsis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:271838002|SNOMEDCT_US:80306002|UMLS:C0232474|UMLS:C0857071		Stomach churning	http://purl.obolibrary.org/obo/HP_0100770	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77853002|UMLS:C0232475|UMLS:C4020700		Intestinal hypoperistalsis	http://purl.obolibrary.org/obo/HP_0100771	Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
HP:0100773	Cartilage destruction	biolink:PhenotypicFeature	hp	UMLS:C4021973		Cartilage destruction	http://purl.obolibrary.org/obo/HP_0100773	
HP:0100774	Hyperostosis	biolink:PhenotypicFeature	hp	MSH:D015576|SNOMEDCT_US:13814009|SNOMEDCT_US:203514008|UMLS:C0020492		Bone overgrowth|Bone Hypertrophy	http://purl.obolibrary.org/obo/HP_0100774	Excessive growth or abnormal thickening of bone tissue.
HP:0100775	Dural ectasia	biolink:PhenotypicFeature	hp	UMLS:C1851712			http://purl.obolibrary.org/obo/HP_0100775	A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
HP:0100776	Recurrent pharyngitis	biolink:PhenotypicFeature	hp	UMLS:C0747556		Recurrent sore throat|Pharyngitis, recurrent	http://purl.obolibrary.org/obo/HP_0100776	An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.
HP:0100777	Exostoses	biolink:PhenotypicFeature	hp	MSH:D005096|SNOMEDCT_US:416189003|SNOMEDCT_US:80400009|UMLS:C1442903		Formation of new noncancerous bone on top of existing bone	http://purl.obolibrary.org/obo/HP_0100777	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	biolink:PhenotypicFeature	hp	MSH:D003449|SNOMEDCT_US:30911005|UMLS:C0010403		Cryoprecipitable immune complexes	http://purl.obolibrary.org/obo/HP_0100778	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	biolink:PhenotypicFeature	hp	UMLS:C4021972			http://purl.obolibrary.org/obo/HP_0100779	A rare birth defect in women where the urethra and vagina both open into a common channel.
HP:0100780	Conjunctival hamartoma	biolink:PhenotypicFeature	hp	UMLS:C4021849			http://purl.obolibrary.org/obo/HP_0100780	A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.
HP:0100781	Abnormality of the sacroiliac joint	biolink:PhenotypicFeature	hp	UMLS:C0262621			http://purl.obolibrary.org/obo/HP_0100781	An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).
HP:0100783	Breast aplasia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111324004|UMLS:C0266009		Absent breast|Congenital absence of breast|Mammary gland aplasia	http://purl.obolibrary.org/obo/HP_0100783	Failure to develop and congenital absence of the breast.
HP:0100784	Peripheral arteriovenous fistula	biolink:PhenotypicFeature	hp	UMLS:C4021971			http://purl.obolibrary.org/obo/HP_0100784	
HP:0100785	Insomnia	biolink:PhenotypicFeature	hp	MSH:D007319|SNOMEDCT_US:193462001|UMLS:C0917801		Difficulty staying or falling asleep|Fragmented sleep	http://purl.obolibrary.org/obo/HP_0100785	
HP:0100786	Hypersomnia	biolink:PhenotypicFeature	hp	MSH:D006970|SNOMEDCT_US:77692006|UMLS:C0917799		Excessive sleepiness	http://purl.obolibrary.org/obo/HP_0100786	
HP:0100787	Prostate neoplasm	biolink:PhenotypicFeature	hp	MSH:D011471|SNOMEDCT_US:126906006|UMLS:C0033578			http://purl.obolibrary.org/obo/HP_0100787	
HP:0100788	Fused lips	biolink:PhenotypicFeature	hp	UMLS:C4021970	hposlim_core	Adhesion of upper and lower lips|Fused lips|Fusion of upper and lower lips	http://purl.obolibrary.org/obo/HP_0100788	Lack of separation of the upper and lower lips.
HP:0100789	Torus palatinus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:244683008|SNOMEDCT_US:46752004|SNOMEDCT_US:697945009|UMLS:C0266981|UMLS:C0447996|UMLS:C1840236	hposlim_core	Maxillary torus|Palatal tori|Palatal torus|Palate exostoses|Prominent midpalatal ridge	http://purl.obolibrary.org/obo/HP_0100789	A bony protrusion present on the midline of the hard palate.
HP:0100790	Hernia	biolink:PhenotypicFeature	hp	MSH:D006547|SNOMEDCT_US:414403008|SNOMEDCT_US:52515009|UMLS:C0019270		Hernias	http://purl.obolibrary.org/obo/HP_0100790	
HP:0100792	Acantholysis	biolink:PhenotypicFeature	hp	MSH:D000051|SNOMEDCT_US:43327007|SNOMEDCT_US:441837004|UMLS:C0000887|UMLS:C0241128		Nikolsky's sign	http://purl.obolibrary.org/obo/HP_0100792	The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
HP:0100795	Abnormally straight spine	biolink:PhenotypicFeature	hp	UMLS:C4021969	hposlim_core	Abnormally straight spine	http://purl.obolibrary.org/obo/HP_0100795	The absence of the normal curvature of the vertebral column.
HP:0100796	Orchitis	biolink:PhenotypicFeature	hp	MSH:D009920|SNOMEDCT_US:274718005|UMLS:C0029191		Inflammation of testicles	http://purl.obolibrary.org/obo/HP_0100796	Testicular inflammation.
HP:0100797	Toenail dysplasia	biolink:PhenotypicFeature	hp	UMLS:C3276623		Abnormal toenail development|Dysplastic toenails	http://purl.obolibrary.org/obo/HP_0100797	An abnormality of the development of the toenails.
HP:0100798	Fingernail dysplasia	biolink:PhenotypicFeature	hp	UMLS:C4020952		Abnormal fingernail development|Dysplastic fingernails	http://purl.obolibrary.org/obo/HP_0100798	An abnormality of the development of the fingernails.
HP:0100799	Neoplasm of the middle ear	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:127006003|UMLS:C0345617		Middle ear tumor|Neoplasia of the middle ear	http://purl.obolibrary.org/obo/HP_0100799	A tumor (abnormal growth of tissue) of the middle ear.
HP:0100800	Aplasia/Hypoplasia of the pancreas	biolink:PhenotypicFeature	hp	UMLS:C4021968		Absent/small pancreas|Absent/underdeveloped pancreas	http://purl.obolibrary.org/obo/HP_0100800	A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.
HP:0100801	Pancreatic aplasia	biolink:PhenotypicFeature	hp	UMLS:C4021967		Absent pancreas	http://purl.obolibrary.org/obo/HP_0100801	Aplasia of the pancreas.
HP:0100802	Malposition of the stomach	biolink:PhenotypicFeature	hp	UMLS:C1402983		Abnormal stomach location|Gastric ectopia|Gastric malposition	http://purl.obolibrary.org/obo/HP_0100802	Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.
HP:0100803	Abnormality of the periungual region	biolink:PhenotypicFeature	hp	UMLS:C4021966			http://purl.obolibrary.org/obo/HP_0100803	An abnormality of the region around the nails of the fingers or toes.
HP:0100804	Ungual fibroma	biolink:PhenotypicFeature	hp	SNOMEDCT_US:264561009|UMLS:C0442880		Koenen tumor|Koenen's tumor|Parungual fibromas|Periungual fibroma	http://purl.obolibrary.org/obo/HP_0100804	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:0100805	obsolete Precocious menopause	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0100805	
HP:0100806	Sepsis	biolink:PhenotypicFeature	hp	MSH:D018805|UMLS:C0036690		Infection in blood stream	http://purl.obolibrary.org/obo/HP_0100806	Systemic inflammatory response to infection.
HP:0100807	Long fingers	biolink:PhenotypicFeature	hp	UMLS:C1858091		Long fingers	http://purl.obolibrary.org/obo/HP_0100807	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	biolink:PhenotypicFeature	hp	MSH:D013273|SNOMEDCT_US:75198005|UMLS:C0038355		Stomach diverticulum	http://purl.obolibrary.org/obo/HP_0100808	An outpouching of the gastric wall.
HP:0100809	Scalp tenderness	biolink:PhenotypicFeature	hp	MEDDRA:10039521|SNOMEDCT_US:75851004|UMLS:C0151206|UMLS:C0240940|UMLS:C4073183		Scalp pain|Scalp tenderness|Scalp hypersensitivity|Allodynia of scalp	http://purl.obolibrary.org/obo/HP_0100809	Pain or discomfort of the scalp elicited by palpation.
HP:0100810	Pointed helix	biolink:PhenotypicFeature	hp	UMLS:C4020951		Pointed ear|Spock's ear|Elfin ear|Spock ear|Vulcan ear	http://purl.obolibrary.org/obo/HP_0100810	
HP:0100811	Aplasia/Hypoplasia of the colon	biolink:PhenotypicFeature	hp	UMLS:C4021964		Absent/small colon|Absent/underdeveloped colon	http://purl.obolibrary.org/obo/HP_0100811	Congenital absence or underdevelopment of the colon.
HP:0100812	Halitosis	biolink:PhenotypicFeature	hp	MEDDRA:10006326|MSH:D006209|SNOMEDCT_US:79879001|UMLS:C0018520	hposlim_core	Bad breath|Foetor ex ore	http://purl.obolibrary.org/obo/HP_0100812	Noticeably unpleasant odors exhaled in breathing.
HP:0100813	Testicular torsion	biolink:PhenotypicFeature	hp	MSH:D013086|SNOMEDCT_US:49198006|SNOMEDCT_US:81996005|UMLS:C0037856		Spermatic cord torsion	http://purl.obolibrary.org/obo/HP_0100813	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	biolink:PhenotypicFeature	hp	MSH:D049328|SNOMEDCT_US:40467008|UMLS:C0265985|UMLS:C4020699		Mongolian spot|Congenital dermal melanocytosis	http://purl.obolibrary.org/obo/HP_0100814	
HP:0100816	Lip hyperpigmentation	biolink:PhenotypicFeature	hp	UMLS:C4021963		Darkening of skin of the lips|Increased pigmentation on the lips|Hyperpigmentation of lip vermillion	http://purl.obolibrary.org/obo/HP_0100816	
HP:0100817	Renovascular hypertension	biolink:PhenotypicFeature	hp	MSH:D006978|SNOMEDCT_US:123799005|UMLS:C0020545		Hypertension due to renal artery hyperplasia	http://purl.obolibrary.org/obo/HP_0100817	The presence of hypertension related to stenosis of the renal artery.
HP:0100818	Long thorax	biolink:PhenotypicFeature	hp	SNOMEDCT_US:298710001|UMLS:C0575484	hposlim_core	Long rib cage	http://purl.obolibrary.org/obo/HP_0100818	Increased inferior to superior extent of the thorax.
HP:0100819	Intestinal fistula	biolink:PhenotypicFeature	hp	MEDDRA:10022647|MSH:D007412|SNOMEDCT_US:38851006|UMLS:C0021833	hposlim_core		http://purl.obolibrary.org/obo/HP_0100819	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:197679002|UMLS:C0268731		Diseased glomeruli	http://purl.obolibrary.org/obo/HP_0100820	Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
HP:0100821	Urethrocele	biolink:PhenotypicFeature	hp	ICD-9:618.03|SNOMEDCT_US:12068006|UMLS:C0238502			http://purl.obolibrary.org/obo/HP_0100821	The prolapse of the female urethra into the vagina.
HP:0100822	Rectocele	biolink:PhenotypicFeature	hp	ICD-9:618.04|MSH:D020047|SNOMEDCT_US:447072005|SNOMEDCT_US:62730001|UMLS:C0149771			http://purl.obolibrary.org/obo/HP_0100822	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	biolink:PhenotypicFeature	hp	UMLS:C4021962			http://purl.obolibrary.org/obo/HP_0100823	
HP:0100825	Cheilitis	biolink:PhenotypicFeature	hp	MSH:D002613|SNOMEDCT_US:7847004|UMLS:C0007971|UMLS:C4280288	hposlim_core	Inflammation of the lips|Red and sore lips	http://purl.obolibrary.org/obo/HP_0100825	Inflammation of the lip.
HP:0100826	Neoplasm of the nail	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4021961		Nail tumor	http://purl.obolibrary.org/obo/HP_0100826	A tumor (abnormal growth of tissue) of the nail.
HP:0100827	Lymphocytosis	biolink:PhenotypicFeature	hp	MSH:D008218|SNOMEDCT_US:67023009|UMLS:C0024282		High lymphocyte count	http://purl.obolibrary.org/obo/HP_0100827	Increase in the number or proportion of lymphocytes in the blood.
HP:0100828	Increased T cell count	biolink:PhenotypicFeature	hp	UMLS:C4021960		Increase in T cell count|Increase in T cell number	http://purl.obolibrary.org/obo/HP_0100828	An abnormal increase in the total number of T cells detected in the blood.
HP:0100829	Galactorrhea	biolink:PhenotypicFeature	hp	MSH:D005687|UMLS:C3665358		Spontaneous milk flow from breast|Galactorrhoea	http://purl.obolibrary.org/obo/HP_0100829	Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.
HP:0100830	Round ear	biolink:PhenotypicFeature	hp	UMLS:C4021959		Round ear	http://purl.obolibrary.org/obo/HP_0100830	
HP:0100831	Abnormality of vitamin K metabolism	biolink:PhenotypicFeature	hp	UMLS:C4021958		Abnormality of vitamin K metabolism	http://purl.obolibrary.org/obo/HP_0100831	Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.
HP:0100832	Vitreous floaters	biolink:PhenotypicFeature	hp	SNOMEDCT_US:15013002|SNOMEDCT_US:162278001|SNOMEDCT_US:420999000|UMLS:C0016242|UMLS:C1720491		Eye floaters|Spots in front of eyes|Flitting flies|Mouches volantes|Myodeopsia|Myodesopsia|Vitreous condensations|Vitreous debris|Vitreous opacities|Vitreous veils	http://purl.obolibrary.org/obo/HP_0100832	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	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:126832004|UMLS:C0345832		Small intestine tumor	http://purl.obolibrary.org/obo/HP_0100833	The presence of a neoplasm of the small intestine.
HP:0100834	Neoplasm of the large intestine	biolink:PhenotypicFeature	hp	MSH:D015179|NCIT:C3262|SNOMEDCT_US:126837005|UMLS:C0009404		Large intestine tumor	http://purl.obolibrary.org/obo/HP_0100834	The presence of a neoplasm of the large intestine.
HP:0100835	Benign neoplasm of the central nervous system	biolink:PhenotypicFeature	hp	SNOMEDCT_US:92048008|UMLS:C0347509		Benign neoplasm of the CNS	http://purl.obolibrary.org/obo/HP_0100835	
HP:0100836	Malignant neoplasm of the central nervous system	biolink:PhenotypicFeature	hp	SNOMEDCT_US:372062007|UMLS:C0348374		Malignant neoplasm of the CNS	http://purl.obolibrary.org/obo/HP_0100836	A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.
HP:0100837	Atrophodermia vermiculata	biolink:PhenotypicFeature	hp	MSH:C537412|SNOMEDCT_US:400059005|SNOMEDCT_US:400126005|UMLS:C0263428		Vermiculata atrophoderma	http://purl.obolibrary.org/obo/HP_0100837	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	biolink:PhenotypicFeature	hp	UMLS:C4021957			http://purl.obolibrary.org/obo/HP_0100838	An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
HP:0100839	Hepatic agenesis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:3650004|UMLS:C0266258		Failed liver development|Liver agenesis	http://purl.obolibrary.org/obo/HP_0100839	Absence of the liver owing to a failure of the liver to develop.
HP:0100840	Aplasia/Hypoplasia of the eyebrow	biolink:PhenotypicFeature	hp	UMLS:C1848765|UMLS:C2266639|UMLS:C3551430|UMLS:C4021956		Absence of eyebrow|Lack of eyebrow|Missing eyebrow|Sparse or absent eyebrows|Sparse to absent eyebrows|Sparse/absent eyebrows|Agenesis of eyebrow|Hypotrophic eyebrow	http://purl.obolibrary.org/obo/HP_0100840	Absence or underdevelopment of the eyebrow.
HP:0100841	Microgastria	biolink:PhenotypicFeature	hp	SNOMEDCT_US:83714006|UMLS:C0266150			http://purl.obolibrary.org/obo/HP_0100841	A developmental anomaly wtih a small tubular or saccular midline stomach.
HP:0100842	Septo-optic dysplasia	biolink:PhenotypicFeature	hp	MSH:D025962|SNOMEDCT_US:7611002|UMLS:C0338503		De Morsier syndrome	http://purl.obolibrary.org/obo/HP_0100842	Underdevelopment of the optic nerve and absence of the septum pellucidum.
HP:0100843	obsolete Glioblastoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0100843	
HP:0100844	Pancreatic fistula	biolink:PhenotypicFeature	hp	MSH:D010185|SNOMEDCT_US:25803005|UMLS:C0030290			http://purl.obolibrary.org/obo/HP_0100844	
HP:0100845	Anaphylactic shock	biolink:PhenotypicFeature	hp	MSH:D000707|SNOMEDCT_US:39579001|UMLS:C0002792		Anaphylaxis	http://purl.obolibrary.org/obo/HP_0100845	An acute hypersensitivity reaction due to exposure to a previously encountered antigen.
HP:0100847	Palmoplantar pustulosis	biolink:PhenotypicFeature	hp	MEDDRA:10050185|MSH:D011565|SNOMEDCT_US:27520001|UMLS:C0030246		Palmoplantar pustules|Pustulosis of palms and soles|Pustulosis palmaris et plantaris	http://purl.obolibrary.org/obo/HP_0100847	A chronic, relapsing, pustular eruption that is localized to the palms and soles.
HP:0100848	Neoplasm of the male external genitalia	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4020950		Neoplasia of the male external genitalia	http://purl.obolibrary.org/obo/HP_0100848	A tumor (abnormal growth of tissue) of the male external genitalia.
HP:0100849	Neoplasm of the scrotum	biolink:PhenotypicFeature	hp	NCIT:C3262|SNOMEDCT_US:126905005|UMLS:C0341790		Scrotum tumor|Neoplasia of the scrotum	http://purl.obolibrary.org/obo/HP_0100849	A tumor (abnormal growth of tissue) of the scrotum.
HP:0100850	Neoplasm of the penis	biolink:PhenotypicFeature	hp	MSH:D010412|NCIT:C3262|SNOMEDCT_US:126896003|UMLS:C0030849		Penis tumor|Neoplasia of the penis	http://purl.obolibrary.org/obo/HP_0100850	A tumor (abnormal growth of tissue) of the penis.
HP:0100851	Abnormal emotion/affect behavior	biolink:PhenotypicFeature	hp	UMLS:C4020949		Abnormal emotion/affect behaviour	http://purl.obolibrary.org/obo/HP_0100851	An abnormality of emotional behaviour.
HP:0100852	Abnormal fear/anxiety-related behavior	biolink:PhenotypicFeature	hp	UMLS:C4018849		Abnormal fear/anxiety-related behaviour	http://purl.obolibrary.org/obo/HP_0100852	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	biolink:PhenotypicFeature	hp	UMLS:C3276032	hposlim_core	Hypoplastic areolae	http://purl.obolibrary.org/obo/HP_0100853	Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.
HP:0100854	Aplasia of the musculature	biolink:PhenotypicFeature	hp	UMLS:C4021955		Absent musculature	http://purl.obolibrary.org/obo/HP_0100854	Absence of the musculature.
HP:0100855	Triceps hypoplasia	biolink:PhenotypicFeature	hp	UMLS:C4021954		Small triceps|Underdeveloped triceps	http://purl.obolibrary.org/obo/HP_0100855	Hypoplasia of the triceps muscle.
HP:0100856	Poorly ossified vertebrae	biolink:PhenotypicFeature	hp	UMLS:C4021953			http://purl.obolibrary.org/obo/HP_0100856	Decreased ossification of the vertebral bodies.
HP:0100857	Flat sella turcica	biolink:PhenotypicFeature	hp	UMLS:C4021952			http://purl.obolibrary.org/obo/HP_0100857	An abnormally flat sella turcica.
HP:0100858	Dilatation of celiac artery	biolink:PhenotypicFeature	hp	SNOMEDCT_US:111290000|UMLS:C0264969		Dilatation of coeliac artery|Celiac artery aneurysm	http://purl.obolibrary.org/obo/HP_0100858	Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.
HP:0100859	Dilatation of superior mesenteric artery	biolink:PhenotypicFeature	hp	SNOMEDCT_US:65498003|UMLS:C0264974		Superior mesenteric artery aneurysm	http://purl.obolibrary.org/obo/HP_0100859	Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .
HP:0100860	Dilatation of Inferior mesenteric artery	biolink:PhenotypicFeature	hp	SNOMEDCT_US:195289005|UMLS:C0340625		Inferior mesenteric artery aneurysm	http://purl.obolibrary.org/obo/HP_0100860	Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .
HP:0100861	Sclerotic vertebral body	biolink:PhenotypicFeature	hp	UMLS:C4021951		Vertebral body sclerosis	http://purl.obolibrary.org/obo/HP_0100861	Increase in bone density of the vertebral body.
HP:0100862	Aplasia of the femoral head	biolink:PhenotypicFeature	hp	UMLS:C4021950		Absent femoral head	http://purl.obolibrary.org/obo/HP_0100862	
HP:0100863	Aplasia of the femoral neck	biolink:PhenotypicFeature	hp	UMLS:C4021949		Absent neck of thighbone	http://purl.obolibrary.org/obo/HP_0100863	
HP:0100864	Short femoral neck	biolink:PhenotypicFeature	hp	UMLS:C1836184	hposlim_core	Short neck of thighbone|Hypoplasia of the femoral neck|Hypoplastic femoral neck|Short femoral necks	http://purl.obolibrary.org/obo/HP_0100864	An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
HP:0100865	Broad ischia	biolink:PhenotypicFeature	hp	UMLS:C1836868			http://purl.obolibrary.org/obo/HP_0100865	Increased width of the ischium, which forms the lower and back part of the hip bone.
HP:0100866	Short iliac bones	biolink:PhenotypicFeature	hp	UMLS:C1849063		Short pelvis bones	http://purl.obolibrary.org/obo/HP_0100866	Underdevelopment of the iliac bones.
HP:0100867	Duodenal stenosis	biolink:PhenotypicFeature	hp	MEDDRA:10050094|MSH:C535720|SNOMEDCT_US:73120006|UMLS:C0238093|UMLS:C1860791	hposlim_core	Duodenal stenosis/atresia	http://purl.obolibrary.org/obo/HP_0100867	The narrowing or partial blockage of a portion of the duodenum.
HP:0100869	Palmar telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C4020948		Telangiectases of palms and soles|Teleangiectases of palms	http://purl.obolibrary.org/obo/HP_0100869	The presence of telangiectases on the skin of palm of hand.
HP:0100870	Plantar telangiectasia	biolink:PhenotypicFeature	hp	UMLS:C4020947		Plantar teleangiectasia|Telangiectases of soles|Teleangiectases of soles	http://purl.obolibrary.org/obo/HP_0100870	Telangiectases (small dilated blood vessels) located on the skin of sole of foot.
HP:0100871	Abnormality of the palm	biolink:PhenotypicFeature	hp	UMLS:C4021948		Abnormality of the palm	http://purl.obolibrary.org/obo/HP_0100871	An abnormality of the palm, that is, of the front of the hand.
HP:0100872	Abnormality of the plantar skin of foot	biolink:PhenotypicFeature	hp	UMLS:C4020946		Minor feet anomalies	http://purl.obolibrary.org/obo/HP_0100872	An abnormality of the plantar part of foot, that is of the soles of the feet.
HP:0100874	Thick hair	biolink:PhenotypicFeature	hp	UMLS:C4073184	hposlim_core	Increased hair density|Thick hair|Increased follicular density	http://purl.obolibrary.org/obo/HP_0100874	Increased density of hairs, i.e., and elevated number of hairs per unit area.
HP:0100875	Hemimacroglossia	biolink:PhenotypicFeature	hp	UMLS:C4021947|UMLS:C4280287		Increased size of half of the tongue|Large half of tongue|Hemiglossal hyperplasia|Hyperplasia of half of the tongue|Hemiglossal hypertrophy|Hypertrophy of half of the tongue	http://purl.obolibrary.org/obo/HP_0100875	Increased length and width of one half of the tounge.
HP:0100876	Infra-orbital crease	biolink:PhenotypicFeature	hp	UMLS:C1857280	hposlim_core	Crease in skin under the eye|Groove in skin under the eye|Infraorbital crease|Infraorbital creases|Underorbital skin creases	http://purl.obolibrary.org/obo/HP_0100876	Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.
HP:0100877	Renal diverticulum	biolink:PhenotypicFeature	hp	SNOMEDCT_US:433036004|UMLS:C2315541		Caliceal diverticulum|Pelvic diverticulum|Renal pelvic diverticulum	http://purl.obolibrary.org/obo/HP_0100877	Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.
HP:0100878	Enlarged uterus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:198319004|UMLS:C0151994		Enlarged uterus	http://purl.obolibrary.org/obo/HP_0100878	
HP:0100879	Enlarged ovaries	biolink:PhenotypicFeature	hp	SNOMEDCT_US:66998000|UMLS:C0392039		Enlarged ovaries	http://purl.obolibrary.org/obo/HP_0100879	
HP:0100880	Nephrogenic rest	biolink:PhenotypicFeature	hp	SNOMEDCT_US:405933007|UMLS:C1320468			http://purl.obolibrary.org/obo/HP_0100880	Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.
HP:0100881	Congenital mesoblastic nephroma	biolink:PhenotypicFeature	hp	MSH:D018201|UMLS:C1332965			http://purl.obolibrary.org/obo/HP_0100881	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:22257004|SNOMEDCT_US:56364004|UMLS:C0265979		Fibrous hamartoma of infancy	http://purl.obolibrary.org/obo/HP_0100882	A rare, benign soft tissue tumor that typically occurs within the first two years of life.
HP:0100883	Chorangioma	biolink:PhenotypicFeature	hp	MSH:D006391|SNOMEDCT_US:2099007|SNOMEDCT_US:237268002|SNOMEDCT_US:699948001|UMLS:C0677608		Placental hamartoma	http://purl.obolibrary.org/obo/HP_0100883	Hamartoma-like growth in the placenta consisting of blood vessels.
HP:0100884	Compensatory scoliosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:203645000|UMLS:C0343292			http://purl.obolibrary.org/obo/HP_0100884	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	biolink:PhenotypicFeature	hp	UMLS:C4020945		Lateral marginal vein of Servelle|Vein of servelle	http://purl.obolibrary.org/obo/HP_0100885	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	biolink:PhenotypicFeature	hp	UMLS:C4021946		Abnormality of eyeball location|Abnormality of eyeball position|Abnormality of globe position	http://purl.obolibrary.org/obo/HP_0100886	An abnormality in the placement of the ocular globe (eyeball).
HP:0100887	Abnormality of globe size	biolink:PhenotypicFeature	hp	UMLS:C4021945		Abnormality of eyeball size|Eye size difference	http://purl.obolibrary.org/obo/HP_0100887	An abnormality in the size of the ocular globe (eyeball).
HP:0100888	Interdigital loops	biolink:PhenotypicFeature	hp	UMLS:C4021944			http://purl.obolibrary.org/obo/HP_0100888	
HP:0100889	Abnormality of the ductus choledochus	biolink:PhenotypicFeature	hp	UMLS:C4020944		Abnormality of the common bile duct	http://purl.obolibrary.org/obo/HP_0100889	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	biolink:PhenotypicFeature	hp	MSH:D015529|SNOMEDCT_US:397868007|SNOMEDCT_US:398197009|SNOMEDCT_US:440471007|UMLS:C0008340		Choledochal cyst	http://purl.obolibrary.org/obo/HP_0100890	
HP:0100891	Bifid xiphoid process	biolink:PhenotypicFeature	hp	UMLS:C4020943		Bifid xiphisternum	http://purl.obolibrary.org/obo/HP_0100891	A cleft of the xiphoid process of the sternum.
HP:0100892	Abnormality of the xiphoid process	biolink:PhenotypicFeature	hp	UMLS:C4021943			http://purl.obolibrary.org/obo/HP_0100892	An abnormality of the xiphoid process of the sternum.
HP:0100893	Prominent xiphoid process	biolink:PhenotypicFeature	hp	UMLS:C4020942		Prominent xiphisternum	http://purl.obolibrary.org/obo/HP_0100893	Increased prominence of the xiphoid process of the sternum.
HP:0100894	Broad xiphoid process	biolink:PhenotypicFeature	hp	UMLS:C4020901		Broad xiphisternum	http://purl.obolibrary.org/obo/HP_0100894	Increased side-to-side width of the xiphoid process of the sternum.
HP:0100896	Rectal polyposis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:39772007|UMLS:C0034887		Multiple rectal polyps|Rectal polyps	http://purl.obolibrary.org/obo/HP_0100896	The presence of multiple rectal hyperplastic/adenomatous polyps.
HP:0100898	Connective tissue nevi	biolink:PhenotypicFeature	hp	MSH:C562737|SNOMEDCT_US:22858003|SNOMEDCT_US:400091006|UMLS:C0334083			http://purl.obolibrary.org/obo/HP_0100898	Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.
HP:0100899	Sclerosis of finger phalanx	biolink:PhenotypicFeature	hp	UMLS:C4020941		Increased bone density in the finger bone|Sclerosis of the phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100899	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	biolink:PhenotypicFeature	hp	UMLS:C4021942		Increased bone density in the outermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0100900	
HP:0100901	Sclerosis of the distal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021941		Increased bone density in the outermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0100901	
HP:0100902	Sclerosis of the distal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021940		Increased bone density in the outermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0100902	
HP:0100903	Sclerosis of the distal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021939		Increased bone density in the outermost little finger bone|Increased bone density in the outermost pinkie finger bone|Increased bone density in the outermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0100903	
HP:0100904	Sclerosis of the middle phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021938		Increased bone density in the middle bone of the index finger	http://purl.obolibrary.org/obo/HP_0100904	
HP:0100905	Sclerosis of the middle phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021937		Increased bone density in the middle bone of the middle finger	http://purl.obolibrary.org/obo/HP_0100905	
HP:0100906	Sclerosis of the middle phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021936		Increased bone density in the middle bone of the ring finger	http://purl.obolibrary.org/obo/HP_0100906	
HP:0100907	Sclerosis of the middle phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021935		Increased bone density in the middle bone of the little finger|Increased bone density in the middle bone of the pinkie finger|Increased bone density in the middle bone of the pinky finger	http://purl.obolibrary.org/obo/HP_0100907	
HP:0100908	Sclerosis of the proximal phalanx of the 2nd finger	biolink:PhenotypicFeature	hp	UMLS:C4021934		Increased bone density in the innermost bone of the index finger	http://purl.obolibrary.org/obo/HP_0100908	
HP:0100909	Sclerosis of the proximal phalanx of the 3rd finger	biolink:PhenotypicFeature	hp	UMLS:C4021933		Increased bone density in innermost bone of the middle finger	http://purl.obolibrary.org/obo/HP_0100909	
HP:0100910	Sclerosis of the proximal phalanx of the 4th finger	biolink:PhenotypicFeature	hp	UMLS:C4021932		Increased bone density in the innermost bone of the ring finger	http://purl.obolibrary.org/obo/HP_0100910	
HP:0100911	Sclerosis of the proximal phalanx of the 5th finger	biolink:PhenotypicFeature	hp	UMLS:C4021931		Increased bone density in innermost little finger bone|Increased bone density in innermost pinkie finger bone|Increased bone density in innermost pinky finger bone	http://purl.obolibrary.org/obo/HP_0100911	
HP:0100912	Sclerosis of the distal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021930		Increased bone density in the outermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0100912	An elevation of bone density in the distal phalanx of the thumb.
HP:0100913	Sclerosis of the proximal phalanx of the thumb	biolink:PhenotypicFeature	hp	UMLS:C4021929		Increased bone density in the innermost bone of the thumb	http://purl.obolibrary.org/obo/HP_0100913	An elevation of bone density in the proximal phalanx of the thumb.
HP:0100914	Sclerosis of the 1st metacarpal	biolink:PhenotypicFeature	hp	UMLS:C4021928		Increased bone density in 1st long bone of hand	http://purl.obolibrary.org/obo/HP_0100914	
HP:0100915	Sclerosis of distal finger phalanx	biolink:PhenotypicFeature	hp	UMLS:C4020940		Increased bone density in outermost finger bone|Sclerosis of the distal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100915	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	biolink:PhenotypicFeature	hp	UMLS:C4020939		Increased bone density in middle finger bone of hand|Sclerosis of the middle phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100916	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	biolink:PhenotypicFeature	hp	UMLS:C4020938		Increased bone density in innermost finger bone|Sclerosis of the proximal phalanges of the hand	http://purl.obolibrary.org/obo/HP_0100917	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	biolink:PhenotypicFeature	hp	UMLS:C4020937		Increased bone density in 2nd finger bone|Sclerosis of the phalanges of the 2nd finger	http://purl.obolibrary.org/obo/HP_0100918	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	biolink:PhenotypicFeature	hp	UMLS:C4020936		Increased bone density in middle finger bone|Sclerosis of the phalanges of the 3rd finger	http://purl.obolibrary.org/obo/HP_0100919	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	biolink:PhenotypicFeature	hp	UMLS:C4020935		Increased bone density in ring finger bone|Sclerosis of the phalanges of the 4th finger	http://purl.obolibrary.org/obo/HP_0100920	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	biolink:PhenotypicFeature	hp	UMLS:C4020934		Increased bone density in little finger bone|Increased bone density in pinkie finger bone|Increased bone density in pinky finger bone|Sclerosis of the phalanges of the 5th finger	http://purl.obolibrary.org/obo/HP_0100921	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	biolink:PhenotypicFeature	hp	UMLS:C4020933		Increased bone density in thumb bone|Sclerosis of the phalanges of the thumb	http://purl.obolibrary.org/obo/HP_0100922	
HP:0100923	Clavicular sclerosis	biolink:PhenotypicFeature	hp	UMLS:C3554669		Increased bone density in collarbone|Osteosclerosis of the clavicle|Osteosclerosis of the clavicles	http://purl.obolibrary.org/obo/HP_0100923	An increase in bone density within the clavicle.
HP:0100924	Sclerosis of toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4020932		Increased bone density in the toe bone|Sclerosis of the phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100924	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	biolink:PhenotypicFeature	hp	UMLS:C4020931		Increased bone density in foot bone|Sclerosis of bones of the feet	http://purl.obolibrary.org/obo/HP_0100925	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	biolink:PhenotypicFeature	hp	UMLS:C4020930		Increased bone density in 2nd toe bone|Sclerosis of the phalanges of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100926	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	biolink:PhenotypicFeature	hp	UMLS:C4020929		Increased bone density in 3rd toe bone|Sclerosis of the phalanges of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100927	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	biolink:PhenotypicFeature	hp	UMLS:C4020928		Increased bone density in 4th toe bone|Sclerosis of the phalanges of the 4th toe	http://purl.obolibrary.org/obo/HP_0100928	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	biolink:PhenotypicFeature	hp	UMLS:C4020927		Increased bone density in little toe bone|Increased bone density in pinkie toe bone|Increased bone density in pinky toe bone|Sclerosis of the phalanges of the 5th toe	http://purl.obolibrary.org/obo/HP_0100929	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	biolink:PhenotypicFeature	hp	UMLS:C4020926		Increased bone density in big toe bone|Sclerosis of the phalanges of the hallux	http://purl.obolibrary.org/obo/HP_0100930	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	biolink:PhenotypicFeature	hp	UMLS:C4021927		Increased bone density in the innermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100931	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	biolink:PhenotypicFeature	hp	UMLS:C4021926		Increased bone density in the innermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100932	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	biolink:PhenotypicFeature	hp	UMLS:C4021925		Increased bone density in the innermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100933	
HP:0100934	Sclerosis of the proximal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021924		Increased bone density in the innermost bone of the little toe|Increased bone density in the innermost bone of the pinkie toe|Increased bone density in the innermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100934	
HP:0100935	Sclerosis of the middle phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021923		Increased bone density in the middle bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100935	
HP:0100936	Sclerosis of the middle phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021922		Increased bone density in the middle bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100936	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	biolink:PhenotypicFeature	hp	UMLS:C4021921		Increased bone density in the middle bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100937	
HP:0100938	Sclerosis of the middle phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021920		Increased bone density in the middle bone of the little toe|Increased bone density in the middle bone of the pinkie toe|Increased bone density in the middle bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100938	
HP:0100939	Sclerosis of the distal phalanx of the 2nd toe	biolink:PhenotypicFeature	hp	UMLS:C4021919		Increased bone density in the outermost bone of the 2nd toe	http://purl.obolibrary.org/obo/HP_0100939	
HP:0100940	Sclerosis of the distal phalanx of the 3rd toe	biolink:PhenotypicFeature	hp	UMLS:C4021918		Increased bone density in the outermost bone of the 3rd toe	http://purl.obolibrary.org/obo/HP_0100940	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	biolink:PhenotypicFeature	hp	UMLS:C4021917		Increased bone density in the outermost bone of the 4th toe	http://purl.obolibrary.org/obo/HP_0100941	
HP:0100942	Sclerosis of the distal phalanx of the 5th toe	biolink:PhenotypicFeature	hp	UMLS:C4021916		Increased bone density in the outermost bone of the little toe|Increased bone density in the outermost bone of the pinkie toe|Increased bone density in the outermost bone of the pinky toe	http://purl.obolibrary.org/obo/HP_0100942	
HP:0100943	Sclerosis of the proximal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021915		Increased bone density in the innermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0100943	
HP:0100944	Sclerosis of the distal phalanx of the hallux	biolink:PhenotypicFeature	hp	UMLS:C4021914		Increased bone density in the outermost bone of the big toe	http://purl.obolibrary.org/obo/HP_0100944	
HP:0100945	Sclerosis of the 1st metatarsal	biolink:PhenotypicFeature	hp	UMLS:C4021913		Increased bone density in the 1st long bone of foot	http://purl.obolibrary.org/obo/HP_0100945	
HP:0100946	Sclerosis of proximal toe phalanx	biolink:PhenotypicFeature	hp	UMLS:C4020925		Increased bone density in innermost toe bone|Sclerosis of the proximal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100946	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	biolink:PhenotypicFeature	hp	UMLS:C4020924		Increased bone density in middle toe bone|Sclerosis of the middle phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100947	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	biolink:PhenotypicFeature	hp	UMLS:C4020923		Increased bone density in the outermost bone of the toes|Sclerosis of the distal phalanges of the toes	http://purl.obolibrary.org/obo/HP_0100948	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	biolink:PhenotypicFeature	hp	MSH:C566945|SNOMEDCT_US:237999008|UMLS:C1969443		Long chain 3 hydroxyacyl coA dehydrogenase deficiency|Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency|Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency	http://purl.obolibrary.org/obo/HP_0100950	
HP:0100951	Enlarged fossa interpeduncularis	biolink:PhenotypicFeature	hp	UMLS:C4020922		Enlarged basal cistern|Enlarged interpeduncular cistern	http://purl.obolibrary.org/obo/HP_0100951	
HP:0100952	Enlarged sylvian cistern	biolink:PhenotypicFeature	hp	UMLS:C4020921		Enlarged lateral fissure|Enlarged lateral sulcus|Enlarged sylvian fissure	http://purl.obolibrary.org/obo/HP_0100952	An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).
HP:0100953	Enlarged interhemispheric fissure	biolink:PhenotypicFeature	hp	UMLS:C4020920		Enlarged great longitudinal fissure|Enlarged longitudinal cerebral fissure|Enlarged longitudinal fissure	http://purl.obolibrary.org/obo/HP_0100953	
HP:0100954	Open operculum	biolink:PhenotypicFeature	hp	UMLS:C2675973			http://purl.obolibrary.org/obo/HP_0100954	Underdevelopment of the operculum.
HP:0100955	Giant cell granuloma of mandible	biolink:PhenotypicFeature	hp	UMLS:C4021912			http://purl.obolibrary.org/obo/HP_0100955	
HP:0100957	Abnormal renal medulla morphology	biolink:PhenotypicFeature	hp	UMLS:C4021911		Abnormality of the renal medulla	http://purl.obolibrary.org/obo/HP_0100957	Any structural abnormality of the medulla of the kidney.
HP:0100958	Narrow foramen obturatorium	biolink:PhenotypicFeature	hp	UMLS:C4021910			http://purl.obolibrary.org/obo/HP_0100958	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	biolink:PhenotypicFeature	hp	UMLS:C4020919		Dense metaphyseal lines|Transverse metaphyseal bands	http://purl.obolibrary.org/obo/HP_0100959	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	Asymmetric ventricles	biolink:PhenotypicFeature	hp	UMLS:C4021909			http://purl.obolibrary.org/obo/HP_0100960	
HP:0100961	Enlarged hippocampus	biolink:PhenotypicFeature	hp	UMLS:C4021908			http://purl.obolibrary.org/obo/HP_0100961	Increase in size of the hippocampus.
HP:0100962	Shyness	biolink:PhenotypicFeature	hp	MSH:D012792|UMLS:C0037020		Shyness	http://purl.obolibrary.org/obo/HP_0100962	
HP:0100963	Hyperesthesia	biolink:PhenotypicFeature	hp	MSH:D006941|SNOMEDCT_US:14151009|UMLS:C0020453		Hyperaesthesia	http://purl.obolibrary.org/obo/HP_0100963	
HP:0200000	Dysharmonic bone age	biolink:PhenotypicFeature	hp	UMLS:C4020918		Dysharmonic skeletal maturation	http://purl.obolibrary.org/obo/HP_0200000	Different levels of maturation of different bones.
HP:0200001	Dysharmonic accelerated bone age	biolink:PhenotypicFeature	hp	UMLS:C4021907			http://purl.obolibrary.org/obo/HP_0200001	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	biolink:PhenotypicFeature	hp	UMLS:C4021906		Splayed end part of bone	http://purl.obolibrary.org/obo/HP_0200003	Flaring (widening) of the epiphysis.
HP:0200005	Abnormal shape of the palpebral fissure	biolink:PhenotypicFeature	hp	UMLS:C4021905	hposlim_core	Abnormal shape of the opening between the eyelids|Abnormal morphology of the palpebral fissure	http://purl.obolibrary.org/obo/HP_0200005	The presence of an abnormal shape of the palpebral fissure.
HP:0200006	Slanting of the palpebral fissure	biolink:PhenotypicFeature	hp	UMLS:C2748932		Slanting of the opening between the eyelids	http://purl.obolibrary.org/obo/HP_0200006	
HP:0200007	Abnormal size of the palpebral fissures	biolink:PhenotypicFeature	hp	UMLS:C4021904|UMLS:C4280286		Abnormal size of the opening between the eyelids|Abnormal size of the eyes	http://purl.obolibrary.org/obo/HP_0200007	An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.
HP:0200008	Intestinal polyposis	biolink:PhenotypicFeature	hp	MSH:D044483|UMLS:C0744333|UMLS:C1257915		Growths in inner lining of intestine|Multiple intestinal polyps|Gastrointestinal polyps	http://purl.obolibrary.org/obo/HP_0200008	The presence of multiple polyps in the intestine.
HP:0200011	Abnormal length of corpus callosum	biolink:PhenotypicFeature	hp	UMLS:C4021903			http://purl.obolibrary.org/obo/HP_0200011	
HP:0200012	Short corpus callosum	biolink:PhenotypicFeature	hp	UMLS:C4021902			http://purl.obolibrary.org/obo/HP_0200012	
HP:0200013	Neoplasm of fatty tissue	biolink:PhenotypicFeature	hp	NCIT:C3262|UMLS:C4021901		Tumor of fatty tissue	http://purl.obolibrary.org/obo/HP_0200013	A tumor (abnormal growth of tissue) of adipose tissue.
HP:0200015	Symmetric great toe depigmentation	biolink:PhenotypicFeature	hp	UMLS:C4021900			http://purl.obolibrary.org/obo/HP_0200015	
HP:0200016	Acrokeratosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:46629009|UMLS:C0001202		Acral keratosis	http://purl.obolibrary.org/obo/HP_0200016	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	biolink:PhenotypicFeature	hp	UMLS:C1859969		Agenesis of the cerebral white matter|White matter agenesis	http://purl.obolibrary.org/obo/HP_0200017	Congenital defect with failure of the development of the cerebral white matter.
HP:0200018	Protanomaly	biolink:PhenotypicFeature	hp	MSH:D003117|SNOMEDCT_US:51445007|UMLS:C0155015|UMLS:C3887980		Red-weak|Colorblindness, partial, protan series	http://purl.obolibrary.org/obo/HP_0200018	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:50792001|UMLS:C0392163	hposlim_core	Damage to outer layer of the cornea of the eye	http://purl.obolibrary.org/obo/HP_0200020	An erosion or abrasion of the cornea's outermost layer of epithelial cells.
HP:0200021	Down-sloping shoulders	biolink:PhenotypicFeature	hp	UMLS:C1856872	hposlim_core	Down-sloping shoulders|Rounded shoulders|Rounded, sloping shoulders|Sloping shoulders	http://purl.obolibrary.org/obo/HP_0200021	Low set, steeply sloping shoulders.
HP:0200022	Choroid plexus papilloma	biolink:PhenotypicFeature	hp	MSH:D020288|NCIT:C3698|SNOMEDCT_US:18021007|UMLS:C0205770			http://purl.obolibrary.org/obo/HP_0200022	Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.
HP:0200023	Priapism	biolink:PhenotypicFeature	hp	MSH:D011317|SNOMEDCT_US:6273006|UMLS:C0033117		hulseyism	http://purl.obolibrary.org/obo/HP_0200023	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	biolink:PhenotypicFeature	hp	UMLS:C4021899			http://purl.obolibrary.org/obo/HP_0200024	The presence of premature sister chromatid segregation.
HP:0200025	Mandibular pain	biolink:PhenotypicFeature	hp	SNOMEDCT_US:274667000|UMLS:C0236000		Lower jaw pain	http://purl.obolibrary.org/obo/HP_0200025	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.
HP:0200026	Ocular pain	biolink:PhenotypicFeature	hp	MSH:D058447|SNOMEDCT_US:41652007|UMLS:C0151827		Eye pain	http://purl.obolibrary.org/obo/HP_0200026	An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
HP:0200028	Pretibial myxedema	biolink:PhenotypicFeature	hp	SNOMEDCT_US:237825005|SNOMEDCT_US:78146007|UMLS:C0033103|UMLS:C0342554		Graves dermopathy	http://purl.obolibrary.org/obo/HP_0200028	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:53312001|UMLS:C0262988		Cutaneous vasculitis	http://purl.obolibrary.org/obo/HP_0200029	
HP:0200030	Punctate vasculitis skin lesions	biolink:PhenotypicFeature	hp	UMLS:C3277693			http://purl.obolibrary.org/obo/HP_0200030	
HP:0200032	Kayser-Fleischer ring	biolink:PhenotypicFeature	hp	SNOMEDCT_US:77103006|UMLS:C0152457		Fleischer's ring|Fleischer-Kayser ring|Fleischer-Struempell ring	http://purl.obolibrary.org/obo/HP_0200032	Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.
HP:0200034	Papule	biolink:PhenotypicFeature	hp	MEDDRA:10033733|SNOMEDCT_US:25694009|SNOMEDCT_US:443871003|UMLS:C0332563	hposlim_core	Papules|Skin papules	http://purl.obolibrary.org/obo/HP_0200034	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:128177006|SNOMEDCT_US:276322001|UMLS:C0241148			http://purl.obolibrary.org/obo/HP_0200035	A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.
HP:0200036	Skin nodule	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95319004|UMLS:C0037287		Growth of abnormal tissue on or under the skin	http://purl.obolibrary.org/obo/HP_0200036	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	biolink:PhenotypicFeature	hp	UMLS:C3814530			http://purl.obolibrary.org/obo/HP_0200037	A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.
HP:0200039	Pustule	biolink:PhenotypicFeature	hp	MEDDRA:10037578|SNOMEDCT_US:103605005|SNOMEDCT_US:271760008|SNOMEDCT_US:285305004|SNOMEDCT_US:47002008|UMLS:C0241157|UMLS:C0542346	hposlim_core	Pimple|Pustules|Skin pustules|Pustula|Pustular lesion|Skin pustule	http://purl.obolibrary.org/obo/HP_0200039	A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
HP:0200040	Epidermoid cyst	biolink:PhenotypicFeature	hp	MSH:D004814|SNOMEDCT_US:399999000|SNOMEDCT_US:417992006|SNOMEDCT_US:418323001|SNOMEDCT_US:418630001|SNOMEDCT_US:419603000|SNOMEDCT_US:419670003|SNOMEDCT_US:419893006|UMLS:C0014511		Skin cyst|Epidermoid cysts|Epidermal cyst|Epidermal inclusion cyst|Infundibular cyst|Keratin cyst|Sebaceous cyst	http://purl.obolibrary.org/obo/HP_0200040	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	biolink:PhenotypicFeature	hp	MEDDRA:10040840|SNOMEDCT_US:93448009|UMLS:C3887524			http://purl.obolibrary.org/obo/HP_0200041	A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
HP:0200042	Skin ulcer	biolink:PhenotypicFeature	hp	MEDDRA:10040943|MSH:D012883|SNOMEDCT_US:46742003|UMLS:C0037299	hposlim_core	Open skin sore	http://purl.obolibrary.org/obo/HP_0200042	A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
HP:0200043	Verrucae	biolink:PhenotypicFeature	hp	MSH:D014860|SNOMEDCT_US:30285000|SNOMEDCT_US:57019003|UMLS:C3665596		Warts	http://purl.obolibrary.org/obo/HP_0200043	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	biolink:PhenotypicFeature	hp	MSH:D017499|SNOMEDCT_US:80432009|UMLS:C0949506			http://purl.obolibrary.org/obo/HP_0200044	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	biolink:PhenotypicFeature	hp	SNOMEDCT_US:42712003|UMLS:C0234861		Cat cry|cat-like cry|cri de chat-associated cry	http://purl.obolibrary.org/obo/HP_0200046	The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.
HP:0200047	Chondritis of pinna	biolink:PhenotypicFeature	hp	UMLS:C0741305		Inflammation of cartilage of pinna	http://purl.obolibrary.org/obo/HP_0200047	Inflammation of the cartilage of the external ear.
HP:0200048	Cyanotic episode	biolink:PhenotypicFeature	hp	SNOMEDCT_US:301795004|UMLS:C0578475			http://purl.obolibrary.org/obo/HP_0200048	
HP:0200049	Upper limb hypertonia	biolink:PhenotypicFeature	hp	UMLS:C4021898			http://purl.obolibrary.org/obo/HP_0200049	
HP:0200050	Bracket metacarpal epiphyses	biolink:PhenotypicFeature	hp	UMLS:C4021897		Bracket shaped end part of long bone of hand	http://purl.obolibrary.org/obo/HP_0200050	
HP:0200053	Hemihypotrophy of lower limb	biolink:PhenotypicFeature	hp	UMLS:C1844734		Asymmetric leg shortening|Asymmetric lower limb shortness	http://purl.obolibrary.org/obo/HP_0200053	Shortening of a leg affecting only one side.
HP:0200054	Foot monodactyly	biolink:PhenotypicFeature	hp	UMLS:C4021896			http://purl.obolibrary.org/obo/HP_0200054	
HP:0200055	Small hand	biolink:PhenotypicFeature	hp	SNOMEDCT_US:299032009|UMLS:C0575802		Disproportionately small hands|Small hand|Small hands	http://purl.obolibrary.org/obo/HP_0200055	Disproportionately small hand.
HP:0200056	Macular scar	biolink:PhenotypicFeature	hp	SNOMEDCT_US:18410006|UMLS:C0423428		Macular scarring	http://purl.obolibrary.org/obo/HP_0200056	Scar tissue in the macula.
HP:0200057	Marcus Gunn pupil	biolink:PhenotypicFeature	hp	SNOMEDCT_US:232122003|SNOMEDCT_US:247015002|UMLS:C0549122		Relative afferent pupil defect|Relative afferent pupillary defect	http://purl.obolibrary.org/obo/HP_0200057	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	biolink:PhenotypicFeature	hp	MSH:D006394|SNOMEDCT_US:33176006|SNOMEDCT_US:39000009|SNOMEDCT_US:403977003|UMLS:C0018923			http://purl.obolibrary.org/obo/HP_0200058	
HP:0200059	Metastatic angiosarcoma	biolink:PhenotypicFeature	hp	UMLS:C0854892			http://purl.obolibrary.org/obo/HP_0200059	
HP:0200063	Colorectal polyposis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:399505005|UMLS:C0949059		Colorectal polyps	http://purl.obolibrary.org/obo/HP_0200063	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	biolink:PhenotypicFeature	hp	MSH:C538115|SNOMEDCT_US:247033008|UMLS:C0423318			http://purl.obolibrary.org/obo/HP_0200064	Asymmetry between the two irides or asymmetry between different parts of one iris.
HP:0200065	Chorioretinal degeneration	biolink:PhenotypicFeature	hp	SNOMEDCT_US:247177004|UMLS:C0521683			http://purl.obolibrary.org/obo/HP_0200065	
HP:0200066	Ribbonlike corneal degeneration	biolink:PhenotypicFeature	hp	UMLS:C4021894			http://purl.obolibrary.org/obo/HP_0200066	
HP:0200067	Recurrent spontaneous abortion	biolink:PhenotypicFeature	hp	UMLS:C3279439		Spontaneous abortion, recurrent	http://purl.obolibrary.org/obo/HP_0200067	Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.
HP:0200068	Nonprogressive visual loss	biolink:PhenotypicFeature	hp	UMLS:C3553696|UMLS:C4021893		Decreased visual acuity, nonprogressive	http://purl.obolibrary.org/obo/HP_0200068	
HP:0200070	Peripheral retinal atrophy	biolink:PhenotypicFeature	hp	UMLS:C3553016		Wasting of the outer part of the retina	http://purl.obolibrary.org/obo/HP_0200070	
HP:0200071	Peripheral vitreoretinal degeneration	biolink:PhenotypicFeature	hp	UMLS:C3280349			http://purl.obolibrary.org/obo/HP_0200071	A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.
HP:0200072	Episodic quadriplegia	biolink:PhenotypicFeature	hp	UMLS:C1863062		Quadriplegia, episodic	http://purl.obolibrary.org/obo/HP_0200072	Intermittent episodes of paralysis of all four limbs.
HP:0200073	Respiratory insufficiency due to defective ciliary clearance	biolink:PhenotypicFeature	hp	UMLS:C3552099			http://purl.obolibrary.org/obo/HP_0200073	
HP:0200083	Severe limb shortening	biolink:PhenotypicFeature	hp	UMLS:C1835446		Severe limb shortening	http://purl.obolibrary.org/obo/HP_0200083	
HP:0200084	Giant cell hepatitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:69800000|UMLS:C0027613|UMLS:C2673820|UMLS:C2675624|UMLS:C4020697		Giant cell hepatitis on biopsy|Giant cell hepatitis on liver biopsy|Giant cell hepatitis shown on biopsy	http://purl.obolibrary.org/obo/HP_0200084	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	biolink:PhenotypicFeature	hp	MSH:D014202|UMLS:C0235081		Involuntary shaking of limb|Limb tremor|Tremor of limbs	http://purl.obolibrary.org/obo/HP_0200085	
HP:0200094	Frontal open bite	biolink:PhenotypicFeature	hp	UMLS:C1857012			http://purl.obolibrary.org/obo/HP_0200094	
HP:0200095	obsolete Anterior open bite	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0200095	
HP:0200096	Triangular-shaped open mouth	biolink:PhenotypicFeature	hp	UMLS:C1859292		Triangular-shaped open mouth	http://purl.obolibrary.org/obo/HP_0200096	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	biolink:PhenotypicFeature	hp	UMLS:C0853945		Blisters of mouth|Oral mucosal blisters|Blebs of oral mucosa|Bullae of oral mucosa|Oral blistering|Oral mucosa blisters	http://purl.obolibrary.org/obo/HP_0200097	Blisters arising in the mouth.
HP:0200098	Absent skin pigmentation	biolink:PhenotypicFeature	hp	UMLS:C2673954		Absent skin pigmentation|Lack of skin coloration	http://purl.obolibrary.org/obo/HP_0200098	Lack of skin pigmentation (coloring).
HP:0200099	obsolete Peripheral retinal pigmentation abnormalities	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0200099	
HP:0200101	Decreased/absent ankle reflexes	biolink:PhenotypicFeature	hp	UMLS:C1850816		Decreased/absent ankle reflexes|Decreased or absent ankle reflexes	http://purl.obolibrary.org/obo/HP_0200101	
HP:0200102	Sparse or absent eyelashes	biolink:PhenotypicFeature	hp	UMLS:C1835157|UMLS:C1862855|UMLS:C3551431		Sparse or absent eyelashes|Partial to total absence of eyelashes|Sparse to absent eyelashes	http://purl.obolibrary.org/obo/HP_0200102	
HP:0200104	Absent fifth fingernail	biolink:PhenotypicFeature	hp	UMLS:C4020917		Absent fifth fingernail|Absent nail of fifth finger	http://purl.obolibrary.org/obo/HP_0200104	Absence of nail of little finger.
HP:0200105	Absent fifth toenail	biolink:PhenotypicFeature	hp	UMLS:C4021892		Absent fifth toenail|Missing fifth toenail	http://purl.obolibrary.org/obo/HP_0200105	
HP:0200106	Absent/shortened dynein arms	biolink:PhenotypicFeature	hp	UMLS:C4021891			http://purl.obolibrary.org/obo/HP_0200106	
HP:0200107	Shortened inner dynein arms	biolink:PhenotypicFeature	hp	UMLS:C4021890			http://purl.obolibrary.org/obo/HP_0200107	
HP:0200108	Shortened outer dynein arms	biolink:PhenotypicFeature	hp	UMLS:C4021889			http://purl.obolibrary.org/obo/HP_0200108	
HP:0200109	Absent/shortened outer dynein arms	biolink:PhenotypicFeature	hp	UMLS:C2750161		Respiratory cilia have shortened or absent outer dynein arms	http://purl.obolibrary.org/obo/HP_0200109	
HP:0200111	Absent stapes head	biolink:PhenotypicFeature	hp	UMLS:C4021888			http://purl.obolibrary.org/obo/HP_0200111	
HP:0200113	Aphalangy of hands and feet	biolink:PhenotypicFeature	hp	UMLS:C4021887		Aphalangy, hands and feet	http://purl.obolibrary.org/obo/HP_0200113	
HP:0200114	Metabolic alkalosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:1388004|UMLS:C0220983			http://purl.obolibrary.org/obo/HP_0200114	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	biolink:PhenotypicFeature	hp	UMLS:C3279409			http://purl.obolibrary.org/obo/HP_0200116	
HP:0200117	Recurrent upper and lower respiratory tract infections	biolink:PhenotypicFeature	hp	UMLS:C1842777			http://purl.obolibrary.org/obo/HP_0200117	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	biolink:PhenotypicFeature	hp	UMLS:C0750292|UMLS:C1850013		Malabsorption of cyanocobalamin|Vitamin B12 deficiency caused by intestinal malabsorption	http://purl.obolibrary.org/obo/HP_0200118	
HP:0200119	Acute hepatitis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:37871000|UMLS:C0267797		Acute liver inflammation	http://purl.obolibrary.org/obo/HP_0200119	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	biolink:PhenotypicFeature	hp	MSH:D006521|SNOMEDCT_US:197284004|UMLS:C0520463		Hepatitis, chronic active	http://purl.obolibrary.org/obo/HP_0200120	Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.
HP:0200122	Atypical or prolonged hepatitis	biolink:PhenotypicFeature	hp	UMLS:C1848456		Atypical or prolonged liver inflammation	http://purl.obolibrary.org/obo/HP_0200122	
HP:0200123	Chronic hepatitis	biolink:PhenotypicFeature	hp	MSH:D006521|SNOMEDCT_US:76783007|UMLS:C0019189		Chronic liver inflammation	http://purl.obolibrary.org/obo/HP_0200123	Hepatitis that lasts for more than six months.
HP:0200124	Chronic hepatitis due to cryptosporidium infection	biolink:PhenotypicFeature	hp	UMLS:C3808820		Hepatitis, chronic, due to cryptosporidium infection	http://purl.obolibrary.org/obo/HP_0200124	Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.
HP:0200125	Mitochondrial respiratory chain defects	biolink:PhenotypicFeature	hp	UMLS:C2751582			http://purl.obolibrary.org/obo/HP_0200125	
HP:0200126	obsolete Amyloid cardiomyopathy	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0200126	
HP:0200127	Atrial cardiomyopathy	biolink:PhenotypicFeature	hp	UMLS:C4021885			http://purl.obolibrary.org/obo/HP_0200127	Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.
HP:0200128	Biventricular hypertrophy	biolink:PhenotypicFeature	hp	UMLS:C0281788			http://purl.obolibrary.org/obo/HP_0200128	Thickening of the heart walls in both ventricles.
HP:0200129	obsolete Calcific mitral stenosis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0200129	
HP:0200133	Lumbosacral meningocele	biolink:PhenotypicFeature	hp	UMLS:C2675557			http://purl.obolibrary.org/obo/HP_0200133	
HP:0200134	Epileptic encephalopathy	biolink:PhenotypicFeature	hp	UMLS:C0543888		Convulsive encephalopathy	http://purl.obolibrary.org/obo/HP_0200134	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:0200135	obsolete Macrocephaly due to hydrocephalus	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0200135	
HP:0200136	Oral-pharyngeal dysphagia	biolink:PhenotypicFeature	hp	MSH:D003680|SNOMEDCT_US:71457002|UMLS:C0267071		Oral pharyngeal dysphagia|Oropharyngeal dysphagia	http://purl.obolibrary.org/obo/HP_0200136	
HP:0200138	Bilateral choanal atresia/stenosis	biolink:PhenotypicFeature	hp	UMLS:C4021884			http://purl.obolibrary.org/obo/HP_0200138	
HP:0200141	Small, conical teeth	biolink:PhenotypicFeature	hp	UMLS:C1851883|UMLS:C4280284|UMLS:C4280285		Small, cone shaped teeth|Small, peg shaped teeth|Small, pointed teeth|Conical microdontia	http://purl.obolibrary.org/obo/HP_0200141	
HP:0200143	Megaloblastic erythroid hyperplasia	biolink:PhenotypicFeature	hp	UMLS:C1334688|UMLS:C1850020		Bone marrow biopsy shows megaloblastic erythroid hyperplasia	http://purl.obolibrary.org/obo/HP_0200143	
HP:0200144	obsolete Anaphylactoid purpura	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0200144	
HP:0200146	Mucoid extracellular matrix accumulation	biolink:PhenotypicFeature	hp	MSH:C536230|SNOMEDCT_US:234021009|SNOMEDCT_US:42182000|SNOMEDCT_US:45894003|UMLS:C0392775		MEMA|Cystic medial necrosis of the aorta	http://purl.obolibrary.org/obo/HP_0200146	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	biolink:PhenotypicFeature	hp	UMLS:C2750913			http://purl.obolibrary.org/obo/HP_0200147	A reduction in the number of nerve cells in the basal ganglia.
HP:0200148	Abnormal liver function tests during pregnancy	biolink:PhenotypicFeature	hp	UMLS:C2750654|UMLS:C4021883		Abnormal liver function tests during pregnancy|Abnormal liver function tests during pregnancy, resolves postpartum	http://purl.obolibrary.org/obo/HP_0200148	
HP:0200149	CSF lymphocytic pleiocytosis	biolink:PhenotypicFeature	hp	SNOMEDCT_US:167719009|UMLS:C0427877		CSF lymphocytosis	http://purl.obolibrary.org/obo/HP_0200149	An increased lymphocyte count in the cerebrospinal fluid.
HP:0200150	Increased serum bile acid concentration during pregnancy	biolink:PhenotypicFeature	hp	UMLS:C4020695|UMLS:C4021882		Increased serum bile acid concentration during pregnancy, resolves	http://purl.obolibrary.org/obo/HP_0200150	
HP:0200151	Cutaneous mastocytosis	biolink:PhenotypicFeature	hp	MSH:D034701|SNOMEDCT_US:397012002|SNOMEDCT_US:703827008|UMLS:C1136033			http://purl.obolibrary.org/obo/HP_0200151	Multifocal dense infiltrates of mast cells in cutaneous tissue.
HP:0200153	Agenesis of lateral incisor	biolink:PhenotypicFeature	hp	UMLS:C4021881|UMLS:C4227831		Missing lateral incisor|Failure of development of lateral incisor|Absence of lateral incisor	http://purl.obolibrary.org/obo/HP_0200153	
HP:0200154	Agenesis of mandibular lateral incisor	biolink:PhenotypicFeature	hp	UMLS:C4021880|UMLS:C4280283		Absence of lower lateral incisor|Missing lower lateral incisor|Failure of development of mandibular lateral incisor|Absence of mandibular lateral incisor|Missing mandibular lateral incisor	http://purl.obolibrary.org/obo/HP_0200154	
HP:0200158	Agenesis of permanent mandibular lateral incisor	biolink:PhenotypicFeature	hp	UMLS:C4021879|UMLS:C4280282		Failure of development of permanent mandibular lateral incisor|Absence of adult mandibular lateral incisor|Absence of permanent mandibular lateral incisor|Missing adult lower lateral incisor|Missing permanent mandibular lateral incisor	http://purl.obolibrary.org/obo/HP_0200158	
HP:0200159	Agenesis of primary mandibular lateral incisor	biolink:PhenotypicFeature	hp	UMLS:C4021878|UMLS:C4280280|UMLS:C4280281		Absence of lower front baby tooth|Agenesis of deciduous mandibular lateral incisor|Failure of development of deciduous mandibular lateral incisor|Failure of development of primary mandibular lateral incisor|Absence of deciduous mandibular lateral incisor|Absence of primary mandibular lateral incisor|Missing deciduous mandibular lateral incisor|Missing primary mandibular lateral incisor	http://purl.obolibrary.org/obo/HP_0200159	
HP:0200160	Agenesis of maxillary incisor	biolink:PhenotypicFeature	hp	UMLS:C4021877|UMLS:C4280278|UMLS:C4280279		Absence of upper front tooth|Missing upper front tooth|Missing upper incisor|Failure of development of maxillary incisor|Failure of development of upper incisor|Absence of maxillary incisor	http://purl.obolibrary.org/obo/HP_0200160	
HP:0200161	Agenesis of mandibular incisor	biolink:PhenotypicFeature	hp	UMLS:C3150012|UMLS:C4021876|UMLS:C4280277		Absence of lower front tooth|Absence of lower incisor|Missing lower front tooth|Missing lower incisor|Agenesis of lower incisor|Failure of development of mandibular incisor|Absence of mandibular incisor	http://purl.obolibrary.org/obo/HP_0200161	
HP:0400000	Tall chin	biolink:PhenotypicFeature	hp	SNOMEDCT_US:471397004|UMLS:C3532221|UMLS:C4021875		Increased height of chin|Long chin|Tall chin|Long lower third of face|Increased height of menton region|Vertical excess of chin|Vertical hyperplasia of chin	http://purl.obolibrary.org/obo/HP_0400000	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	biolink:PhenotypicFeature	hp	UMLS:C4020916		Chin with vertical crease|Cleft chin|Chin with vertical furrow|Chin with vertical groove|Chin with vertical sulcus|Chin, vertical crease|Vertical chin skin cleft|Vertical menton crease	http://purl.obolibrary.org/obo/HP_0400001	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	biolink:PhenotypicFeature	hp	UMLS:C4020915		Concha, Extra Fold	http://purl.obolibrary.org/obo/HP_0400002	Folds or ridges within the concha that are distinct from the crus helix.
HP:0400003	Focal absence of the external ear	biolink:PhenotypicFeature	hp	UMLS:C4021874			http://purl.obolibrary.org/obo/HP_0400003	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	biolink:PhenotypicFeature	hp	UMLS:C1848657		Long ear|Long ears	http://purl.obolibrary.org/obo/HP_0400004	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	biolink:PhenotypicFeature	hp	UMLS:C3551041		Short ear|Short ears	http://purl.obolibrary.org/obo/HP_0400005	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	biolink:PhenotypicFeature	hp	MSH:D008599|SNOMEDCT_US:52754008|UMLS:C0032519			http://purl.obolibrary.org/obo/HP_0400007	Frequent menses; menstrual cycles lasting less than 21 days.
HP:0400008	Menometrorrhagia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:314631008|SNOMEDCT_US:351814001|UMLS:C0232943			http://purl.obolibrary.org/obo/HP_0400008	Prolonged/excessive menses and bleeding at irregular intervals.
HP:0410000	Abnormality of vomer	biolink:PhenotypicFeature	hp	UMLS:C4020914		Abnormality of vomer bone|Defect of vomer	http://purl.obolibrary.org/obo/HP_0410000	An abnormality of the vomer.
HP:0410003	Cleft maxillary alveolus	biolink:PhenotypicFeature	hp	SNOMEDCT_US:109546001|UMLS:C0432084|UMLS:C4280276		Cleft primary palate|Alveolar cleft|Cleft anterior maxilla|Cleft alveolar process of maxilla	http://purl.obolibrary.org/obo/HP_0410003	Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. 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:0410004	obsolete Cleft secondary palate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410004	
HP:0410005	Cleft hard palate	biolink:PhenotypicFeature	hp	SNOMEDCT_US:448915004|UMLS:C0432090		Cleft bony palate|Cleft of hard palate	http://purl.obolibrary.org/obo/HP_0410005	
HP:0410006	Abnormality of ophthalmic artery	biolink:PhenotypicFeature	hp	UMLS:C4073185		Ophthalmic artery anomaly	http://purl.obolibrary.org/obo/HP_0410006	Abnormality of the first branch of the internal carotid artery.
HP:0410007	obsolete Abnormality of cartilage morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410007	
HP:0410008	Abnormality of the peripheral nervous system	biolink:PhenotypicFeature	hp	UMLS:C4073187		Abnormality of the peripheral nervous system	http://purl.obolibrary.org/obo/HP_0410008	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	biolink:PhenotypicFeature	hp	UMLS:C4073188			http://purl.obolibrary.org/obo/HP_0410009	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	biolink:PhenotypicFeature	hp	UMLS:C4073189			http://purl.obolibrary.org/obo/HP_0410010	Any abnormality of the somatic nerve plexus.
HP:0410011	Abnormality of masticatory muscle	biolink:PhenotypicFeature	hp	UMLS:C4073190		Abnormality of muscles of mastication	http://purl.obolibrary.org/obo/HP_0410011	Any abnormality of the masticatory muscle.
HP:0410012	Abnormal mouth floor morphology	biolink:PhenotypicFeature	hp	UMLS:C4073191		Abnormality of the floor of mouth|Abnormality of the mouth floor	http://purl.obolibrary.org/obo/HP_0410012	Any abnormality of the mouth floor.
HP:0410013	Abnormality of the submandibular region	biolink:PhenotypicFeature	hp	UMLS:C4073192			http://purl.obolibrary.org/obo/HP_0410013	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	Abnormality of ganglion	biolink:PhenotypicFeature	hp	UMLS:C4073193			http://purl.obolibrary.org/obo/HP_0410014	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.
HP:0410015	Abnormality of ganglion of peripheral nervous system	biolink:PhenotypicFeature	hp	UMLS:C4073194			http://purl.obolibrary.org/obo/HP_0410015	An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.
HP:0410016	Abnormality of cranial ganglion	biolink:PhenotypicFeature	hp	UMLS:C4073195			http://purl.obolibrary.org/obo/HP_0410016	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	biolink:PhenotypicFeature	hp			Swimmer's ear	http://purl.obolibrary.org/obo/HP_0410017	Inflammation or infection of the external auditory canal (EAC), the auricle, or both.
HP:0410018	Recurrent ear infections	biolink:PhenotypicFeature	hp			Frequent ear infections|Recurrent ear infections	http://purl.obolibrary.org/obo/HP_0410018	Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.
HP:0410019	Epigastric pain	biolink:PhenotypicFeature	hp			Epigastrium pain	http://purl.obolibrary.org/obo/HP_0410019	Pain that is localized to the region of the upper abdomen immediately below the ribs.
HP:0410020	Fish odor	biolink:PhenotypicFeature	hp			Fish odour|Fishy odor|Fishy body odor	http://purl.obolibrary.org/obo/HP_0410020	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	biolink:PhenotypicFeature	hp			Musty odor|Musty odour	http://purl.obolibrary.org/obo/HP_0410021	Pungent body odor.
HP:0410022	Vaginal fish odor	biolink:PhenotypicFeature	hp			Vaginal fish odor|Vaginal fish odour	http://purl.obolibrary.org/obo/HP_0410022	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410023	An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.
HP:0410026	Abnormality of the periodontium	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410026	Any abnormality of the periodontium.
HP:0410027	Alveolar bone loss around teeth	biolink:PhenotypicFeature	hp			Bone loss around teeth	http://purl.obolibrary.org/obo/HP_0410027	A decrease in the amount of alveolar bone around the root of a tooth.
HP:0410028	Recurrent oral herpes	biolink:PhenotypicFeature	hp			Recurrent herpes labialis	http://purl.obolibrary.org/obo/HP_0410028	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	biolink:PhenotypicFeature	hp			Cleft lip|Cleft of the lip	http://purl.obolibrary.org/obo/HP_0410030	A gap in the lip or lips.
HP:0410031	Submucous cleft of soft and hard palate	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410031	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:0410032	obsolete Cleft of uvula	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410032	
HP:0410033	Unilateral alveolar cleft of maxilla	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410033	One sided alveolar cleft of the maxilla.
HP:0410034	Bilateral alveolar cleft of maxilla	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410034	Nonmidline alveolar cleft of the maxilla.
HP:0410035	Abnormal T cell activation	biolink:PhenotypicFeature	hp			Abnormal T lymphocyte activation|Abnormal T-cell activation|Abnormal T-lymphocyte activation	http://purl.obolibrary.org/obo/HP_0410035	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	biolink:PhenotypicFeature	hp	Fyler:4447			http://purl.obolibrary.org/obo/HP_0410042	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	biolink:PhenotypicFeature	hp	Fyler:4339			http://purl.obolibrary.org/obo/HP_0410043	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	Abnormality of radial ray	biolink:PhenotypicFeature	hp			Deformity of radial ray|Radial ray abnormality|Radial ray anomaly|Radial ray deformity	http://purl.obolibrary.org/obo/HP_0410049	
HP:0410050	Decreased level of 1,5 anhydroglucitol in serum	biolink:PhenotypicFeature	hp			Decreased level of 1,5-AG in serum|Decreased level of 1,5-anhydro-D-glucitol in serum|Decreased level of 1,5-anhydroglucitol in serum	http://purl.obolibrary.org/obo/HP_0410050	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	biolink:PhenotypicFeature	hp			An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.	http://purl.obolibrary.org/obo/HP_0410051	
HP:0410052	Increased level of allantoin in serum	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410052	An increase in the level of allantoin in the serum.
HP:0410053	Increased level of GABA in serum	biolink:PhenotypicFeature	hp			Increased level of gamma-aminobutyric acid in serum	http://purl.obolibrary.org/obo/HP_0410053	An increase in the level of GABA in the serum.
HP:0410054	Decreased level of GABA in serum	biolink:PhenotypicFeature	hp			Decreased level of gamma-aminobutyric acid in serum	http://purl.obolibrary.org/obo/HP_0410054	A decrease in the level of GABA in the serum.
HP:0410055	Decreased level of erythritol in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410055	A decrease in the level of erythritol in the urine.
HP:0410056	Decreased level of erythritol in CSF	biolink:PhenotypicFeature	hp			Decreased level of erythritol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410056	A decrease in the level of erythritol in the cerebrospinal fluid.
HP:0410057	Increased level of D-threitol in plasma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410057	An increase in the level of D-threitol in the plasma.
HP:0410058	Increased level of D-threitol in CSF	biolink:PhenotypicFeature	hp			Increased level of D-threitol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410058	An increase in the level of D-threitol in the cerebrospinal fluid.
HP:0410059	Increased level of D-threitol in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410059	An increase in the level of D-threitol in the urine.
HP:0410060	Decreased level of D-mannose in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410060	A decrease in the level of D-mannose in the urine.
HP:0410061	Increased level of galactitol in plasma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410061	An increase in the level of galactitol in the plasma.
HP:0410062	Increased level of galactitol in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410062	An increase in the level of galactitol in the urine.
HP:0410063	Increased level of galactonate in red blood cells	biolink:PhenotypicFeature	hp			Increased level of galactonate in RBCs|Increased level of galactonate in erythrocytes	http://purl.obolibrary.org/obo/HP_0410063	An increase in the level of galactonate in the red blood cells.
HP:0410064	Increased level of galactitol in red blood cells	biolink:PhenotypicFeature	hp			Increased level of galactitol in erythrocytes	http://purl.obolibrary.org/obo/HP_0410064	An increase in the level of galactitol in the red blood cells.
HP:0410065	Increased level of hippuric acid in blood	biolink:PhenotypicFeature	hp			Increased level of N-benzoylglycine in blood	http://purl.obolibrary.org/obo/HP_0410065	An increase in the level of hippuric acid in the blood.
HP:0410066	Increased level of hippuric acid in urine	biolink:PhenotypicFeature	hp			Increased level of N-benzoylglycine in urine	http://purl.obolibrary.org/obo/HP_0410066	An increase in the level of hippuric acid in the urine.
HP:0410067	Increased level of L-fucose in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410067	An increase in the level of L-fucose in the urine.
HP:0410068	Increased level of L-glutamic acid in blood	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410068	An increase in the level of L-glutamic acid in the blood.
HP:0410069	Increased level of propylene glycol in blood	biolink:PhenotypicFeature	hp			Increased level of propane-1,2-diol in blood	http://purl.obolibrary.org/obo/HP_0410069	An increase in the level of propylene glycol in the blood.
HP:0410070	Increased level of ribitol in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410070	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	biolink:PhenotypicFeature	hp			Increased level of ribitol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410071	An increase in the level of ribitol in the cerebral spinal fluid.
HP:0410072	Increased level of ribose in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410072	An increase in the level of ribose in the urine.
HP:0410073	Increased level of ribose in CSF	biolink:PhenotypicFeature	hp			Increased level of ribose in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410073	An increase in the level of ribose in the cerebrospinal fluid.
HP:0410074	Increased level of xylitol in urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410074	An increase in the level of xylitol in the urine.
HP:0410075	Increased level of xylitol in CSF	biolink:PhenotypicFeature	hp			Increased level of xylitol in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410075	An increase in the level of xylitol in the cerebrospinal fluid.
HP:0410132	Increased level of L-pyroglutamic acid in urine	biolink:PhenotypicFeature	hp			Elevated urine 5-oxoproline|Increased level of 5-oxo-L-proline in urine	http://purl.obolibrary.org/obo/HP_0410132	An increase in the level of L-pyroglutamic acid in the urine.
HP:0410133	Chronic idiopathic urticaria	biolink:PhenotypicFeature	hp			CIU|CSU|Chronic spontaneous urticaria	http://purl.obolibrary.org/obo/HP_0410133	Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.
HP:0410134	Physical urticaria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410134	Urticaria caused by physical agents, such as heat, cold, light, friction.
HP:0410135	Cold urticaria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410135	Urticaria may be caused by cold temperatures.
HP:0410136	Aquagenic urticaria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410136	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410137	Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.
HP:0410138	Vibratory urticaria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410138	Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.
HP:0410139	Exercise induced anaphylaxis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410139	Anaphylaxis after physical activity.
HP:0410144	Abnormal biotinidase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410144	An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
HP:0410145	Decreased biotinidase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410145	A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
HP:0410146	Increased biotinidase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410146	An increase in biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
HP:0410147	Eosinophilic infiltration in the stomach mucosa	biolink:PhenotypicFeature	hp			Eosinophilic gastritis	http://purl.obolibrary.org/obo/HP_0410147	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410148	A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.
HP:0410149	Drug-induced anaphylaxis	biolink:PhenotypicFeature	hp			Drug induced anaphylaxis	http://purl.obolibrary.org/obo/HP_0410149	A form of anaphylaxis that is triggered by intake of drugs or medications.
HP:0410151	Eosinophilic infiltration of the esophagus	biolink:PhenotypicFeature	hp			Eosinophilic esophagitis|Eosinophilic infiltration of the oesophagus	http://purl.obolibrary.org/obo/HP_0410151	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	biolink:PhenotypicFeature	hp			Eosinophilic micro-abscess formation in the esophagus|Eosinophilic microabscess formation in the oesophagus	http://purl.obolibrary.org/obo/HP_0410152	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	biolink:PhenotypicFeature	hp			Increased level of pyrotartaric acid in urine	http://purl.obolibrary.org/obo/HP_0410153	An increase in the level of methylsuccinic acid in the urine.
HP:0410154	Increased level of myristic acid in serum	biolink:PhenotypicFeature	hp			Increased level of tetradecanoic acid in serum	http://purl.obolibrary.org/obo/HP_0410154	An increase in the level of myristic acid in the serum.
HP:0410156	Increased level of N-acetylneuraminic acid in urine	biolink:PhenotypicFeature	hp			Increased level of NANA in urine|Increased level of Neu5Ac in urine	http://purl.obolibrary.org/obo/HP_0410156	An increase in the level of N-acetylneuraminic acid in the urine.
HP:0410157	Increased level of N-acetylneuraminic acid in fibroblasts	biolink:PhenotypicFeature	hp			Increased level of NANA in fibroblasts|Increased level of Neu5Ac in fibroblasts|Increased level of sialic acid in fibroblasts	http://purl.obolibrary.org/obo/HP_0410157	An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.
HP:0410158	Increased urine O-phosphoethanolamine level	biolink:PhenotypicFeature	hp			Increased level of O-phosphoethanolamine in urine	http://purl.obolibrary.org/obo/HP_0410158	An increase in the level of O-phosphoethanolamine in the urine.
HP:0410166	Defective interstrand cross-link repair	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410166	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	biolink:PhenotypicFeature	hp			Muscle issues in the chest|Abnormality of the chest musculature	http://purl.obolibrary.org/obo/HP_0410167	Any abnormality of the chest muscles.
HP:0410168	Abnormality of the back musculature	biolink:PhenotypicFeature	hp			Muscle issues in the back	http://purl.obolibrary.org/obo/HP_0410168	Any abnormality of the back muscles.
HP:0410169	Abnormal morphology of the shoulder musculature	biolink:PhenotypicFeature	hp			Muscle issues in the shoulder|Abnormality of the shoulder musculature	http://purl.obolibrary.org/obo/HP_0410169	Any abnormality of the shoulder muscles.
HP:0410170	Hippocampal atrophy	biolink:PhenotypicFeature	hp			Atrophy of the hippocampus|Degeneration of the hippocampus	http://purl.obolibrary.org/obo/HP_0410170	Partial or complete wasting (loss) of hippocampus tissue that was once present.
HP:0410171	Increased cotinine level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410171	Increased concentration of cotinine in urine.
HP:0410172	Blood xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410172	The presence of a xenobiotic in blood.
HP:0410173	Increased troponin I level in blood	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410173	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 troponin T level in blood	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410174	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	biolink:PhenotypicFeature	hp			Increased level of ketone bodies in blood|Elevated circulating ketone body concentration|Ketonemia	http://purl.obolibrary.org/obo/HP_0410175	An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.
HP:0410176	Abnormal glucose-6-phosphate dehydrogenase level	biolink:PhenotypicFeature	hp			Abnormal G6PD level	http://purl.obolibrary.org/obo/HP_0410176	An anomaly in the level of glucose-6-phosphate dehydrogenase.
HP:0410177	Abnormal glucose-6-phosphate dehydrogenase level in blood	biolink:PhenotypicFeature	hp			Abnormal G6PD level in blood	http://purl.obolibrary.org/obo/HP_0410177	An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.
HP:0410178	Increased glucose-6-phosphate dehydrogenase level in blood	biolink:PhenotypicFeature	hp			Increased G6PD level in blood	http://purl.obolibrary.org/obo/HP_0410178	An increase in the level of glucose-6-phosphate dehydrogenase in the blood.
HP:0410179	Decreased glucose-6-phosphate dehydrogenase level in blood	biolink:PhenotypicFeature	hp			Decreased G6PD level in blood	http://purl.obolibrary.org/obo/HP_0410179	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	biolink:PhenotypicFeature	hp			Abnormal G6PD level in dried blood spot|Abnormal glucose-6-phosphate dehydrogenase level in DBS	http://purl.obolibrary.org/obo/HP_0410180	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	biolink:PhenotypicFeature	hp			Increased G6PD level in dried blood spot|Increased glucose-6-phosphate dehydrogenase level in DBS	http://purl.obolibrary.org/obo/HP_0410181	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	biolink:PhenotypicFeature	hp			Decreased G6PD level in dried blood spot|Decreased glucose-6-phosphate dehydrogenase level in DBS	http://purl.obolibrary.org/obo/HP_0410182	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	biolink:PhenotypicFeature	hp			Abnormal G6PD level in leukocytes	http://purl.obolibrary.org/obo/HP_0410183	An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.
HP:0410184	Abnormal glucose-6-phosphate dehydrogenase level in red blood cells	biolink:PhenotypicFeature	hp			Abnormal G6PD level in RBCs|Abnormal G6PD level in red blood cells	http://purl.obolibrary.org/obo/HP_0410184	An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.
HP:0410185	Abnormal glucose-6-phosphate dehydrogenase level in tissue	biolink:PhenotypicFeature	hp			Abnormal G6PD level in tissue	http://purl.obolibrary.org/obo/HP_0410185	An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.
HP:0410186	Increased glucose-6-phosphate dehydrogenase level in tissue	biolink:PhenotypicFeature	hp			Increased G6PD level in tissue	http://purl.obolibrary.org/obo/HP_0410186	An increase in the level of glucose-6-phosphate dehydrogenase in tissue.
HP:0410187	Decreased glucose-6-phosphate dehydrogenase level in tissue	biolink:PhenotypicFeature	hp			Decreased G6PD level in tissue	http://purl.obolibrary.org/obo/HP_0410187	A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.
HP:0410188	Decreased glucose-6-phosphate dehydrogenase level in red blood cells	biolink:PhenotypicFeature	hp			Decreased G6PD level in RBCs|Decreased G6PD level in red blood cells	http://purl.obolibrary.org/obo/HP_0410188	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	biolink:PhenotypicFeature	hp			Increased G6PD level in RBCs|Increased G6PD level in red blood cells	http://purl.obolibrary.org/obo/HP_0410189	An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.
HP:0410190	Decreased glucose-6-phosphate dehydrogenase level in leukocytes	biolink:PhenotypicFeature	hp			Decreased G6PD level in leukocytes	http://purl.obolibrary.org/obo/HP_0410190	A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.
HP:0410191	Increased glucose-6-phosphate dehydrogenase level in leukocytes	biolink:PhenotypicFeature	hp			Increased G6PD level in leukocytes	http://purl.obolibrary.org/obo/HP_0410191	An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.
HP:0410192	Abnormal uridine diphosphate glucose-4-epimerase level	biolink:PhenotypicFeature	hp			Abnormal UDP-glucose 4-epimerase level	http://purl.obolibrary.org/obo/HP_0410192	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	biolink:PhenotypicFeature	hp			Abnormal UDP-glucose 4-epimerase activity level in plasma	http://purl.obolibrary.org/obo/HP_0410193	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	biolink:PhenotypicFeature	hp			Increased UDP-glucose 4-epimerase level in plasma	http://purl.obolibrary.org/obo/HP_0410194	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	biolink:PhenotypicFeature	hp			Decreased UDP-glucose 4-epimerase level in plasma	http://purl.obolibrary.org/obo/HP_0410195	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	biolink:PhenotypicFeature	hp			Abnormal UDP-glucose 4-epimerase level in RBCs|Abnormal UDP-glucose 4-epimerase level in red blood cells	http://purl.obolibrary.org/obo/HP_0410196	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	biolink:PhenotypicFeature	hp			Increased UDP-glucose 4-epimerase level in RBCs|Increased UDP-glucose 4-epimerase level in red blood cells	http://purl.obolibrary.org/obo/HP_0410197	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	biolink:PhenotypicFeature	hp			Decreased UDP-glucose 4-epimerase level in RBCs|Decreased UDP-glucose 4-epimerase level in red blood cells	http://purl.obolibrary.org/obo/HP_0410198	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	biolink:PhenotypicFeature	hp			Elevated CSF urate concentration|Increased cerebrospinal fluid urate	http://purl.obolibrary.org/obo/HP_0410199	Increased concentration of urate in the cerebrospinal fluid.
HP:0410200	Positive meconium barbiturate test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410200	Detection of barbiturate metabolites such as phenobarbital in meconium.
HP:0410201	Positive hair barbiturate test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410201	Detection of barbiturate metabolites such as phenobarbital in the hair.
HP:0410202	Positive stool barbiturate test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410202	Detection of barbiturate metabolites such as phenobarbital in the stool.
HP:0410203	Positive gastric fluid barbiturate test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410203	Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.
HP:0410204	Increased intestinal transit time	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410204	An increase in the length of time required for food to pass through the intestines.
HP:0410205	Abnormal circulating nicotinurate concentration	biolink:PhenotypicFeature	hp			Abnormal circulating N-nicotinoylglycine level|Abnormal circulating nicotinurate level	http://purl.obolibrary.org/obo/HP_0410205	Any deviation from the normal concentration of nicotinurate in the blood.
HP:0410206	Increased circulating nicotinurate level	biolink:PhenotypicFeature	hp			Increased circulating N-nicotinoylglycine level	http://purl.obolibrary.org/obo/HP_0410206	An increased amount of nicotinurate in the blood.
HP:0410207	Positive methadone plasma/serum test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410207	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410208	Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.
HP:0410209	Folate deficiency in CSF	biolink:PhenotypicFeature	hp			Folate deficiency in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410209	A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.
HP:0410210	Abnormal cord blood measurement	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410210	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410211	
HP:0410212	Hyperoxemia in cord blood	biolink:PhenotypicFeature	hp			High cord blood oxygen level	http://purl.obolibrary.org/obo/HP_0410212	An abnormally high level of blood oxygen in the cord blood.
HP:0410213	Hypoxemia in cord blood	biolink:PhenotypicFeature	hp			Low cord blood oxygen level	http://purl.obolibrary.org/obo/HP_0410213	An abnormally low level of blood oxygen in the cord blood.
HP:0410214	Hypercapnia in cord blood	biolink:PhenotypicFeature	hp			High cord blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0410214	Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.
HP:0410215	Hypocapnia in cord blood	biolink:PhenotypicFeature	hp			Low cord blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0410215	Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.
HP:0410216	Abnormal blood 5-methyltetrahydrofolate level	biolink:PhenotypicFeature	hp			Abnormal serum methylfolate Level	http://purl.obolibrary.org/obo/HP_0410216	An abnormal concentration of 5-methyltetrahydrofolate in the blood.
HP:0410217	Reduced blood 5-methyltetrahydrofolate level	biolink:PhenotypicFeature	hp			Reduced serum methylfolate Level	http://purl.obolibrary.org/obo/HP_0410217	A decreased concentration of 5-methyltetrahydrofolate in the blood.
HP:0410218	Hypoplasia of maxilla relative to mandible	biolink:PhenotypicFeature	hp			Disorder of maxillary and mandibular dental arch relationship	http://purl.obolibrary.org/obo/HP_0410218	Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).
HP:0410219	Hypoplasia of mandible relative to maxilla	biolink:PhenotypicFeature	hp			Disorder of mandibular and maxillary dental arch relationship	http://purl.obolibrary.org/obo/HP_0410219	Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).
HP:0410220	Increased anti-dairy protein IgE antibody level	biolink:PhenotypicFeature	hp			Increased anti-dairy IgE antibody level	http://purl.obolibrary.org/obo/HP_0410220	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	biolink:PhenotypicFeature	hp			Increased level of anti-animal protein IgE antibody	http://purl.obolibrary.org/obo/HP_0410221	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	biolink:PhenotypicFeature	hp			Increased level of anti-seafood IgE antibody	http://purl.obolibrary.org/obo/HP_0410222	Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.
HP:0410223	Increased anti-dust mite IgE antibody level	biolink:PhenotypicFeature	hp			Increased level of anti-dust mite IgE antibody	http://purl.obolibrary.org/obo/HP_0410223	Increased level of IgE antibody against dust mites, such as house dust mites.
HP:0410224	Increased anti-bacteria IgE antibody level	biolink:PhenotypicFeature	hp			Increased level of anti-bacteria IgE antibody	http://purl.obolibrary.org/obo/HP_0410224	Increased level of IgE antibody against bacteria.
HP:0410225	Increased anti-drug IgE antibody level	biolink:PhenotypicFeature	hp			Increased level of anti-drug IgE antibody	http://purl.obolibrary.org/obo/HP_0410225	Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.
HP:0410226	Increased anti-feather IgE antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410226	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	biolink:PhenotypicFeature	hp			Increased level of anti-food allergen IgE antibody	http://purl.obolibrary.org/obo/HP_0410227	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	biolink:PhenotypicFeature	hp			Increased level of anti-plant based food allergen IgE antibody	http://purl.obolibrary.org/obo/HP_0410228	Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.
HP:0410229	Increased anti-gluten IgE antibody level	biolink:PhenotypicFeature	hp			Increased level of anti-gluten IgE antibody	http://purl.obolibrary.org/obo/HP_0410229	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410230	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410231	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	biolink:PhenotypicFeature	hp			Increased anti-fungal IgE antibody level|Increased anti-fungus IgE antibody level	http://purl.obolibrary.org/obo/HP_0410232	Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.
HP:0410233	Increased anti-meat allergen IgE antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410233	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410234	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410235	Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.
HP:0410236	Increased anti-venom IgE antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410236	Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.
HP:0410238	Increased anti-plant product IgE antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410238	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410239	Detection of norcotinine, a metabolite of nicotine, in urine.
HP:0410240	Abnormal circulating IgA level	biolink:PhenotypicFeature	hp			Abnormal IgA level in blood	http://purl.obolibrary.org/obo/HP_0410240	An abnormal deviation from normal levels of IgA immunoglobulin in blood.
HP:0410241	Abnormal circulating IgE level	biolink:PhenotypicFeature	hp			Abnormal IgE level in blood	http://purl.obolibrary.org/obo/HP_0410241	An abnormal deviation from normal levels of IgE immunoglobulin in blood.
HP:0410242	Abnormal circulating IgG level	biolink:PhenotypicFeature	hp			Abnormal IgG level in blood	http://purl.obolibrary.org/obo/HP_0410242	An abnormal deviation from normal levels of IgG immunoglobulin in blood.
HP:0410243	Abnormal circulating IgM level	biolink:PhenotypicFeature	hp			Abnormal IgM level in blood	http://purl.obolibrary.org/obo/HP_0410243	An abnormal deviation from normal levels of IgM immunoglobulin in blood.
HP:0410244	Abnormal circulating IgD level	biolink:PhenotypicFeature	hp			Abnormal IgD level in blood	http://purl.obolibrary.org/obo/HP_0410244	An abnormal deviation from normal levels of IgD immunoglobulin in blood.
HP:0410245	Decreased circulating IgD	biolink:PhenotypicFeature	hp			Decreased IgD|Decreased IgD in blood|IgD deficiency	http://purl.obolibrary.org/obo/HP_0410245	An abnormally decreased level of immunoglobulin D (IgD) in blood.
HP:0410246	Increased circulating IgD level	biolink:PhenotypicFeature	hp			Elevated IgD|Elevated serum IgD|IgD hypergammaglobulinemia|Increased IgD level|Increased levels of IgD|Increased serum IgD	http://purl.obolibrary.org/obo/HP_0410246	An abnormally increased level of immunoglobulin D in blood.
HP:0410247	Increased anti-animal dander IgE antibody level	biolink:PhenotypicFeature	hp			Increased level of anti-dander IgE antibody	http://purl.obolibrary.org/obo/HP_0410247	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	biolink:PhenotypicFeature	hp			Increased anti-house dust IgE antibody level|Increased level of anti-house dust IgE antibody	http://purl.obolibrary.org/obo/HP_0410248	Increased level of IgE antibody against house dust mites, a common allergen.
HP:0410249	Increased anti-alpha-gal IgE antibody level	biolink:PhenotypicFeature	hp			Increased anti-galactose-alpha-1, 3 galactose IgE antibody level	http://purl.obolibrary.org/obo/HP_0410249	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410251	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410252	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	biolink:PhenotypicFeature	hp			Myeloid maturation arrest in bone marrow	http://purl.obolibrary.org/obo/HP_0410253	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410254	Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.
HP:0410255	Transient neutropenia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410255	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410256	Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.
HP:0410257	Neutrophilia in presence of infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410257	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410258	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	biolink:PhenotypicFeature	hp			Hepatic pulmonary fusion	http://purl.obolibrary.org/obo/HP_0410259	Fusion of the liver with the lung.
HP:0410260	Asymmetrical gluteal crease	biolink:PhenotypicFeature	hp			Asymmetrical buttock crease|Asymmetrical gluteal sulcus|Asymmetrical horizontal gluteal crease	http://purl.obolibrary.org/obo/HP_0410260	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	biolink:PhenotypicFeature	hp			Wide space between the 4th and 5th toe	http://purl.obolibrary.org/obo/HP_0410261	A widely spaced gap between the fourth toe and the fifth (pinky) toe.
HP:0410262	Lower cranial nerve dysfunction	biolink:PhenotypicFeature	hp			Abnormal lower cranial nerve function	http://purl.obolibrary.org/obo/HP_0410262	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	biolink:PhenotypicFeature	hp			Abnormal brain imaging	http://purl.obolibrary.org/obo/HP_0410263	An anomaly of metabolism or structure of the brain identified by imaging.
HP:0410264	Subglottic hemangioma	biolink:PhenotypicFeature	hp			Airway hemangioma	http://purl.obolibrary.org/obo/HP_0410264	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410265	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410266	A hemangioma arising from within visceral structures, the internal organs of the body.
HP:0410267	Intestinal hemangioma	biolink:PhenotypicFeature	hp			Bowel hemangioma|Intestinal hemangioma	http://purl.obolibrary.org/obo/HP_0410267	A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.
HP:0410268	Spleen hemangioma	biolink:PhenotypicFeature	hp			Splenic hemangioma	http://purl.obolibrary.org/obo/HP_0410268	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.
HP:0410269	Labial hemangioma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410269	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.
HP:0410270	Esophageal hemangioma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410270	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.
HP:0410271	Laryngeal hemangioma	biolink:PhenotypicFeature	hp			Throat hemangioma	http://purl.obolibrary.org/obo/HP_0410271	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.
HP:0410272	Vulvar hemangioma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410272	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.
HP:0410273	Retropharyngeal hemangioma	biolink:PhenotypicFeature	hp	NCIT:C3085			http://purl.obolibrary.org/obo/HP_0410273	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410274	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	biolink:PhenotypicFeature	hp			Lumbar/sacral hemangioma	http://purl.obolibrary.org/obo/HP_0410275	A spinal cord hemangioma located in the lumbosacral spine region.
HP:0410276	Supraumbilical raphe	biolink:PhenotypicFeature	hp			Midline supraumbilical raphe	http://purl.obolibrary.org/obo/HP_0410276	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410277	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	biolink:PhenotypicFeature	hp			Cyst of the pituitary gland	http://purl.obolibrary.org/obo/HP_0410278	A fluid-filled sacs that develop on or near the pituitary gland.
HP:0410279	Atrophic pituitary gland	biolink:PhenotypicFeature	hp			Atrophic pituitary|Pituitary gland atrophy	http://purl.obolibrary.org/obo/HP_0410279	Partial or complete wasting (loss) of the pituitary gland.
HP:0410280	Pediatric onset	biolink:PhenotypicFeature	hp			Paediatric onset|Onset before adulthood	http://purl.obolibrary.org/obo/HP_0410280	Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset.
HP:0410281	Dyspepsia	biolink:PhenotypicFeature	hp			Indigestion	http://purl.obolibrary.org/obo/HP_0410281	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 level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410282	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	biolink:PhenotypicFeature	hp			Positive blood Tylenol test|Positive blood paracetamol test	http://purl.obolibrary.org/obo/HP_0410283	Detection of acetaminophen in the blood.
HP:0410284	Positive norpropoxyphene blood test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410284	Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.
HP:0410285	Positive meconium methadone test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410285	Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.
HP:0410286	Positive blood molindone test	biolink:PhenotypicFeature	hp			Positive blood Moban test	http://purl.obolibrary.org/obo/HP_0410286	Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.
HP:0410287	Intrathoracic hemangioma	biolink:PhenotypicFeature	hp			Chest hemangioma	http://purl.obolibrary.org/obo/HP_0410287	A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.
HP:0410288	Hyperamylasemia	biolink:PhenotypicFeature	hp			Increased circulating amylase level	http://purl.obolibrary.org/obo/HP_0410288	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	biolink:PhenotypicFeature	hp			Decreased circulating amylase level	http://purl.obolibrary.org/obo/HP_0410289	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410290	Detection of norpropoxyphene in urine.
HP:0410291	Negativism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410291	Opposing or not responding to instructions or external stimuli.
HP:0410292	Abnormal isohemagglutinin level	biolink:PhenotypicFeature	hp			Abnormal level of natural antibody to blood group agents|Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)	http://purl.obolibrary.org/obo/HP_0410292	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	biolink:PhenotypicFeature	hp			Absent natural antibody to blood group agents|Complete or near-complete absence of isohemagglutinins	http://purl.obolibrary.org/obo/HP_0410293	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410294	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410295	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410296	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410297	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410298	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410299	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410300	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410301	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410302	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410303	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410304	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410305	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410306	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410307	Detection of methadone and its metabolites in the stool.
HP:0410308	Decreased specific antibody response to infection	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410308	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	biolink:PhenotypicFeature	hp			2-aminoadipic aciduria	http://purl.obolibrary.org/obo/HP_0410309	A increased concentration of alpha-aminoadipic acid in the urine.
HP:0410310	Abnormality of neutrophil morphology in CSF	biolink:PhenotypicFeature	hp			Abnormality of neutrophil morphology in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410310	An abnormal form or size of neutrophils in the cerebrospinal fluid.
HP:0410311	Hyposegmentation of neutrophil nuclei in CSF	biolink:PhenotypicFeature	hp			Hyposegmentation of neutrophil nuclei in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410311	Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.
HP:0410312	Hypersegmentation of neutrophil nuclei in CSF	biolink:PhenotypicFeature	hp			Hypersegmentation of neutrophil nuclei in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0410312	An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.
HP:0410313	Abnormal urinary 1-methylhistidine concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410313	Abnormal concentration of 1-methylhistidine in the urine.
HP:0410314	Decreased urinary 1-methylhistidine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410314	Decreased concentration of 1-methylhistidine in the urine.
HP:0410315	Increased urinary 1-methylhistidine	biolink:PhenotypicFeature	hp			1-Methylhistidinuria	http://purl.obolibrary.org/obo/HP_0410315	Increased concentration of 1-methylhistidine in the urine.
HP:0410316	Abnormal urinary 3-methylhistidine level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410316	Abnormal amount of 3-methylhistidine in the urine.
HP:0410317	Increased urinary 3-methylhistidine	biolink:PhenotypicFeature	hp			3-Methylhistidinuria	http://purl.obolibrary.org/obo/HP_0410317	Increased concentration of 3-methylhistidine in the urine.
HP:0410318	Decreased urinary 3-methylhistidine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410318	Decreased concentration of 3-methylhistidine in the urine.
HP:0410319	Alpha-gal allergy	biolink:PhenotypicFeature	hp			Alpha-gal allergy|Allergy to alpha-gal|IgE-mediated alpha-gal allergy|Immunoglobulin E-mediated alpha-gal allergy	http://purl.obolibrary.org/obo/HP_0410319	Hypersensitivity in form of an adverse immune reaction against alpha-gal.
HP:0410320	Animal protein allergy	biolink:PhenotypicFeature	hp			Animal protein allergy|Allergy to animal proteins|IgE-mediated animal protein allergy|Immunoglobulin E-mediated animal protein allergy	http://purl.obolibrary.org/obo/HP_0410320	Hypersensitivity in form of an adverse immune reaction against animal proteins.
HP:0410321	Animal dander allergy	biolink:PhenotypicFeature	hp			Animal dander allergy|Allergy to animal dander|IgE-mediated animal dander allergy|Immunoglobulin E-mediated animal dander allergy	http://purl.obolibrary.org/obo/HP_0410321	Hypersensitivity in form of an adverse immune reaction against animal dander.
HP:0410322	Bacteria allergy	biolink:PhenotypicFeature	hp			Bacteria allergy|Allergy to bacteria|IgE-mediated bacteria allergy|Immunoglobulin E-mediated bacteria allergy	http://purl.obolibrary.org/obo/HP_0410322	Hypersensitivity in form of an adverse immune reaction against bacteria.
HP:0410323	Drug allergy	biolink:PhenotypicFeature	hp			Drug allergy|Allergy to drugs|IgE-mediated drug allergy|Immunoglobulin E-mediated drug allergy	http://purl.obolibrary.org/obo/HP_0410323	Hypersensitivity in form of an adverse immune reaction against drugs.
HP:0410324	Dust mite allergy	biolink:PhenotypicFeature	hp			Dust mite allergy|Allergy to dust mites|IgE-mediated dust mite allergy|Immunoglobulin E-mediated dust mite allergy	http://purl.obolibrary.org/obo/HP_0410324	Hypersensitivity in form of an adverse immune reaction against dust mites.
HP:0410325	House dust mite allergy	biolink:PhenotypicFeature	hp			House dust mite allergy|Allergy to house dust mites|IgE-mediated house dust mite allergy|Immunoglobulin E-mediated house dust mite allergy	http://purl.obolibrary.org/obo/HP_0410325	Hypersensitivity in form of an adverse immune reaction against house dust mites.
HP:0410326	Feather allergy	biolink:PhenotypicFeature	hp			Feather allergy|Allergy to feathers|IgE-mediated feather allergy|Immunoglobulin E-mediated feather allergy	http://purl.obolibrary.org/obo/HP_0410326	Hypersensitivity in form of an adverse immune reaction against feathers.
HP:0410327	Dairy allergy	biolink:PhenotypicFeature	hp			Dairy allergy|Allergy to dairy|IgE-mediated dairy allergy|Immunoglobulin E-mediated dairy allergy	http://purl.obolibrary.org/obo/HP_0410327	Hypersensitivity in form of an adverse immune reaction against dairy.
HP:0410328	Egg allergy	biolink:PhenotypicFeature	hp			Egg allergy|Allergy to eggs|IgE-mediated egg allergy|Immunoglobulin E-mediated egg allergy	http://purl.obolibrary.org/obo/HP_0410328	Hypersensitivity in form of an adverse immune reaction against eggs.
HP:0410329	Gluten allergy	biolink:PhenotypicFeature	hp			Gluten allergy|Allergy to gluten|IgE-mediated gluten allergy|Immunoglobulin E-mediated gluten allergy	http://purl.obolibrary.org/obo/HP_0410329	Hypersensitivity in form of an adverse immune reaction against gluten.
HP:0410330	Meat allergen allergy	biolink:PhenotypicFeature	hp			Meat allergen allergy|Meat allergy|Allergy to meat allergens|IgE-mediated meat allergen allergy|Immunoglobulin E-mediated meat allergen allergy	http://purl.obolibrary.org/obo/HP_0410330	Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.
HP:0410331	Nut food product allergy	biolink:PhenotypicFeature	hp			Nut allergy|Nut food product allergy|Allergy to nut food products|IgE-mediated nut food product allergy|Immunoglobulin E-mediated nut food product allergy	http://purl.obolibrary.org/obo/HP_0410331	Hypersensitivity in form of an adverse immune reaction against nut food products.
HP:0410332	Plant based food allergy	biolink:PhenotypicFeature	hp			Plant based food allergy|Allergy to plant based food allergens|IgE-mediated plant based food allergen allergy|Immunoglobulin E-mediated plant based food allergen allergy	http://purl.obolibrary.org/obo/HP_0410332	Hypersensitivity in form of an adverse immune reaction against plant based food allergens.
HP:0410333	Seafood allergy	biolink:PhenotypicFeature	hp			Seafood allergy|Allergy to seafood|IgE-mediated seafood allergy|Immunoglobulin E-mediated seafood allergy	http://purl.obolibrary.org/obo/HP_0410333	Hypersensitivity in form of an adverse immune reaction against seafood.
HP:0410334	Fungi allergy	biolink:PhenotypicFeature	hp			Fungal allergy|Fungi allergy|Fungus allergy|Allergy to fungi|IgE-mediated fungi allergy|Immunoglobulin E-mediated fungi allergy	http://purl.obolibrary.org/obo/HP_0410334	Hypersensitivity in form of an adverse immune reaction against fungus.
HP:0410335	Insect allergy	biolink:PhenotypicFeature	hp			Insect allergy|Allergy to insects|IgE-mediated insect allergy|Immunoglobulin E-mediated insect allergy	http://purl.obolibrary.org/obo/HP_0410335	Hypersensitivity in form of an adverse immune reaction against insects.
HP:0410336	Venom allergy	biolink:PhenotypicFeature	hp			Venom allergy|Allergy to venom|IgE-mediated venom allergy|Immunoglobulin E-mediated venom allergy	http://purl.obolibrary.org/obo/HP_0410336	Hypersensitivity in form of an adverse immune reaction against insect venom.
HP:0410337	Parasite allergy	biolink:PhenotypicFeature	hp			Parasite allergy|Allergy to parasites|IgE-mediated parasite allergy|Immunoglobulin E-mediated parasite allergy	http://purl.obolibrary.org/obo/HP_0410337	Hypersensitivity in form of an adverse immune reaction against parasites.
HP:0410338	Plant product allergy	biolink:PhenotypicFeature	hp			Plant product allergy|Allergy to plant products|IgE-mediated plant product allergy|Immunoglobulin E-mediated plant product allergy	http://purl.obolibrary.org/obo/HP_0410338	Hypersensitivity in form of an adverse immune reaction against plant products.
HP:0410339	Insect bite allergy	biolink:PhenotypicFeature	hp			Insect bite allergy|Allergy to insect bites|IgE-mediated insect bite allergy|Immunoglobulin E-mediated insect bite allergy	http://purl.obolibrary.org/obo/HP_0410339	Hypersensitivity in form of an adverse immune reaction against insect bites.
HP:0410340	Focal epithelial hyperplasia of oral mucosa	biolink:PhenotypicFeature	hp			Focal epithelial hyperplasia of the lining of mouth|Oral mucosa epithelial hyperplasia	http://purl.obolibrary.org/obo/HP_0410340	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	biolink:PhenotypicFeature	hp			Abnormal circulating heparan sulphate level|Abnormality of the concentration of heparan sulfate in the blood	http://purl.obolibrary.org/obo/HP_0410341	An abnormal level of heparan sulfate in the blood.
HP:0410342	Increased circulating heparan sulfate level	biolink:PhenotypicFeature	hp			Increased circulating heparan sulphate level|Increased blood heparan sulfate concentration	http://purl.obolibrary.org/obo/HP_0410342	An abnormal increase in the concentration of heparan sulfate in the blood.
HP:0410343	Decreased circulating heparan sulfate level	biolink:PhenotypicFeature	hp			Decreased circulating heparan sulphate level|Decreased blood heparan sulfate concentration	http://purl.obolibrary.org/obo/HP_0410343	An abnormal decrease in the concentration of heparan sulfate in the blood.
HP:0410344	Shortened O-fucosylated glycan on properdin	biolink:PhenotypicFeature	hp			Presence of terminal O-fucose glycans on properdin	http://purl.obolibrary.org/obo/HP_0410344	Decreased length of O-fucosylated glycans present on properdin.
HP:0410345	Increased urinary polyhexose	biolink:PhenotypicFeature	hp			Increased polyhexose concentration in urine	http://purl.obolibrary.org/obo/HP_0410345	An abnormal increase in the concentration of polyhexose in the urine.
HP:0410346	Increased urinary galactosylated oligosaccharide	biolink:PhenotypicFeature	hp			Increased concentration of galactosylated oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410346	An abnormal increase in the concentration of galactosylated oligosaccharides in urine.
HP:0410347	Increased urinary high-mannose-type oligosaccharide	biolink:PhenotypicFeature	hp			Increased concentration of high-mannose-type oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410347	An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.
HP:0410348	Increased urinary multiantennary sialylated oligosaccharide	biolink:PhenotypicFeature	hp			Increase concentration of multiantennary sialylated oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410348	An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.
HP:0410349	Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410349	An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.
HP:0410350	Increased urinary fucosylated oligosaccharide	biolink:PhenotypicFeature	hp			Increased concentration of fucosylated oligosaccharides in urine	http://purl.obolibrary.org/obo/HP_0410350	An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.
HP:0410351	Abnormal complex N-glycan level	biolink:PhenotypicFeature	hp			Abnormal concentration of complex N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410351	An abnormal concentration of complex N-glycans on glycoproteins.
HP:0410352	Increased complex N-glycan level	biolink:PhenotypicFeature	hp			Increased concentration of complex N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410352	An abnormal increase in the concentration of complex N-glycans on glycoproteins.
HP:0410353	Decreased complex N-glycan level	biolink:PhenotypicFeature	hp			Increased truncated complex N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410353	An abnormal decrease in the concentration of complex N-glycans on glycoproteins.
HP:0410354	Increased sialylated N-glycan level	biolink:PhenotypicFeature	hp			Increased concentration of sialylated N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410354	An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.
HP:0410355	Decreased sialylated N-glycan level	biolink:PhenotypicFeature	hp			Decreased concentration of sialylated N-glycans on glycoproteins	http://purl.obolibrary.org/obo/HP_0410355	An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.
HP:0410356	Abnormal high-mannose N-glycan level	biolink:PhenotypicFeature	hp			Abnormal high-mannose N-glycans on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410356	An abnormal concentration of high-mannose N-glycans on glycoproteins.
HP:0410357	Increased high-mannose N-glycan level	biolink:PhenotypicFeature	hp			Increased high-mannose N-glycans on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410357	An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.
HP:0410358	Decreased high-mannose N-glycan level	biolink:PhenotypicFeature	hp			An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.|Decreased high-mannose N-glycans on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410358	
HP:0410359	Abnormal core 1 O-glycan level	biolink:PhenotypicFeature	hp			Abnormal concentration of T-antigen	http://purl.obolibrary.org/obo/HP_0410359	An abnormal in the concentration of core 1 O-glycans on glycoproteins.
HP:0410360	Increased core 1 O-glycan level	biolink:PhenotypicFeature	hp			Increased T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410360	An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.
HP:0410361	Decreased core 1 O-glycan level	biolink:PhenotypicFeature	hp			Decreased T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410361	An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.
HP:0410362	Decreased O-mannosyl glycans on alpha-dystroglycan	biolink:PhenotypicFeature	hp			Reduced O-mannosyl glycans on alpha-dystroglycan	http://purl.obolibrary.org/obo/HP_0410362	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	biolink:PhenotypicFeature	hp			Increased sialyl T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410363	An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.
HP:0410364	Decreased monosialylated core 1 O-glycan level	biolink:PhenotypicFeature	hp			Decreased sialyl T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410364	An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.
HP:0410365	Increased disialylated core 1 O-glycan level	biolink:PhenotypicFeature	hp			Increased disialyl T-antigen concentration	http://purl.obolibrary.org/obo/HP_0410365	An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.
HP:0410366	Increased globoside Gb4 level	biolink:PhenotypicFeature	hp			Increased globoside Gb4 concentration	http://purl.obolibrary.org/obo/HP_0410366	An abnormal increase in the concentration of globoside Gb4.
HP:0410367	Increased hepatitis A virus antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410367	An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.
HP:0410368	Increased globoside Gb3 level	biolink:PhenotypicFeature	hp			Increased globoside Gb3 concentration	http://purl.obolibrary.org/obo/HP_0410368	An abnormal increase in the concentration of glycolipid globoside Gb3.
HP:0410369	Increased hepatitis B virus antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410369	An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.
HP:0410370	Absence of ganglioside GM3	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410370	The absence of ganglioside GM3.
HP:0410371	Increased hepatitis C virus antibody level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410371	An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.
HP:0410372	Increased Tn-antigen level	biolink:PhenotypicFeature	hp			Increased O-GalNac on glycoprotein concentration	http://purl.obolibrary.org/obo/HP_0410372	An abnormal increase in the concentration of Tn antigen on glycoproteins.
HP:0410373	Abnormal proportion of naive CD4 T cells	biolink:PhenotypicFeature	hp			Abnormal proportion of CD4+CD45RA+ cells|Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0410373	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410374	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	biolink:PhenotypicFeature	hp			Elevated proportion of naive CD4 T cells|Increased proportion of CD4+CD45RA+ cells|Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0410375	
HP:0410376	Increased proportion of naive CD8 T cells	biolink:PhenotypicFeature	hp			Elevated proportion of naive CD8 T cells|Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0410376	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	biolink:PhenotypicFeature	hp			Reduced proportion of naive CD8 T cells|Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells	http://purl.obolibrary.org/obo/HP_0410377	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	biolink:PhenotypicFeature	hp			Decreased proportion of CD4+CD45RA+ cells|Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells|Reduced proportion of naive CD4 T cells	http://purl.obolibrary.org/obo/HP_0410378	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410379	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410380	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410381	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:0410382	obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410382	
HP:0410383	Abnormal proportion of effector memory CD8-positive, alpha-beta T cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410383	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410384	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410385	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410386	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:0410387	obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410387	
HP:0410388	Decreased proportion of central memory CD4-positive, alpha-beta T cells	biolink:PhenotypicFeature	hp			Decreased proportion of CD4+ central memory cells|Decreased proportion of CD4-positive central memory cells|Decreased proportion of central memory CD4+, alpha-beta T cell|Reduced proportion of CD4+ central memory cells	http://purl.obolibrary.org/obo/HP_0410388	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410389	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410390	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410391	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410392	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	biolink:PhenotypicFeature	hp			Elevated proportion central memory CD4-positive, alpha-beta T cells|Elevated proportion of CD4+ central memory cells|Increased proportion of CD4+ central memory cells|Increased proportion of central memory CD4+, alpha-beta T cell	http://purl.obolibrary.org/obo/HP_0410393	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410394	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410395	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410396	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	biolink:PhenotypicFeature	hp			Bronchiolectasia	http://purl.obolibrary.org/obo/HP_0410397	Saccular dilatation of the terminal bronchioles.
HP:0410399	Positive blood lead test	biolink:PhenotypicFeature	hp			Increased blood lead level	http://purl.obolibrary.org/obo/HP_0410399	Detection of lead in the blood.
HP:0410400	Absent sebaceous glands	biolink:PhenotypicFeature	hp			Absence of sebaceous glands	http://purl.obolibrary.org/obo/HP_0410400	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0410401	Applies to a sign or symptom that is exacerbated in the evening as compared to the day.
HP:0430000	Abnormality of the frontal bone	biolink:PhenotypicFeature	hp	UMLS:C4021873		Abnormality of the bone of the forehead|Abnormal morphology of frontal bone|Anomaly of the frontal bone|Deformity of the frontal bone|Malformation of the frontal bone	http://purl.obolibrary.org/obo/HP_0430000	An abnormality of the frontal bone.
HP:0430002	Abnormality of the lacrimal bone	biolink:PhenotypicFeature	hp	UMLS:C4021872		Anomaly of the lacrimal bone|Deformity of the lacrimal bone|Malformation of the lacrimal bone	http://purl.obolibrary.org/obo/HP_0430002	An abnormality of the lacrimal bone.
HP:0430003	Abnormality of the palatine bone	biolink:PhenotypicFeature	hp	UMLS:C4021871		Anomaly of the palatine bone|Deformity of the palatine bone|Malformation of the palatine bone	http://purl.obolibrary.org/obo/HP_0430003	An abnormality of the palatine bone.
HP:0430004	Frontomalar faciosynostosis	biolink:PhenotypicFeature	hp	UMLS:C4021870			http://purl.obolibrary.org/obo/HP_0430004	
HP:0430005	Abnormality of ethmoid bone	biolink:PhenotypicFeature	hp	UMLS:C4021869		Anomaly of the ethmoid bone|Deformity of the ethmoid bone|Malformation of the ethmoid bone	http://purl.obolibrary.org/obo/HP_0430005	An abnormality of the ethmoid bone
HP:0430006	Ectopic cilia of eyelid	biolink:PhenotypicFeature	hp	SNOMEDCT_US:95504004|UMLS:C0521574			http://purl.obolibrary.org/obo/HP_0430006	An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.
HP:0430007	Symblepharon	biolink:PhenotypicFeature	hp	SNOMEDCT_US:90216006|UMLS:C0152454		Eyelid stuck to eyeball|Eyelid adhesion to globe of eye	http://purl.obolibrary.org/obo/HP_0430007	A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.
HP:0430008	Accessory eyelid	biolink:PhenotypicFeature	hp	SNOMEDCT_US:24606006|UMLS:C0266576|UMLS:C4280275		Extra eyelid|Double eyelid	http://purl.obolibrary.org/obo/HP_0430008	The presence of more than the normal number of eyelids.
HP:0430009	Hypoplasia of eyelid	biolink:PhenotypicFeature	hp	SNOMEDCT_US:204203001|UMLS:C0344499|UMLS:C4280274		Small eyelid|Decreased size of eyelid|Underdevelopment of eyelid|Short eyelid	http://purl.obolibrary.org/obo/HP_0430009	Developmental hypoplasia of the eyelid.
HP:0430010	Microblepharia	biolink:PhenotypicFeature	hp	SNOMEDCT_US:94684003|UMLS:C0685873		Abnormally small eyelid	http://purl.obolibrary.org/obo/HP_0430010	Abnormal shortness of the vertical dimensions of the eyelids.
HP:0430011	Defect of palpebral conjunctiva	biolink:PhenotypicFeature	hp	UMLS:C4021868			http://purl.obolibrary.org/obo/HP_0430011	An abnormality of the palpebral conjunctiva.
HP:0430012	Incomplete ossification of palatine bone	biolink:PhenotypicFeature	hp	SNOMEDCT_US:93595006|UMLS:C0685213		Incomplete calcification of palatine bone|Incomplete mineralization of palatine bone|Incomplete formation of palatine bone	http://purl.obolibrary.org/obo/HP_0430012	Failure to complete ossification (maturation and calcification) of the palatine bone.
HP:0430013	Absent palatine bone ossification	biolink:PhenotypicFeature	hp	UMLS:C4021867		Absence of palatine bone calcification|Absence of palatine bone mineralization|Absence of palatine bone formation	http://purl.obolibrary.org/obo/HP_0430013	Lack of formation of the palatine bone.
HP:0430014	Abnormality of musculature of soft palate	biolink:PhenotypicFeature	hp	UMLS:C4073196		Abnormality of soft palate muscles	http://purl.obolibrary.org/obo/HP_0430014	An abnormality of one or more of the five muscles of the soft palate.
HP:0430015	Abnormal morphology of musculature of pharynx	biolink:PhenotypicFeature	hp	UMLS:C4073197		Abnormality of muscles of the pharynx|Abnormality of musculature of pharynx|Abnormality of pharyngeal musculature|Abnormality of pharynx musculature	http://purl.obolibrary.org/obo/HP_0430015	An abnormality of any of the muscles of the pharynx.
HP:0430016	Abnormality of tensor veli palatini muscle	biolink:PhenotypicFeature	hp	UMLS:C4073198			http://purl.obolibrary.org/obo/HP_0430016	An abnormality of the tensor veli palatini muscle
HP:0430017	Abnormality of uvular muscle	biolink:PhenotypicFeature	hp	UMLS:C4073199		Abnormality of musculus uvulae	http://purl.obolibrary.org/obo/HP_0430017	An abnormality of the uvular muscle
HP:0430018	Abnormality of nasal musculature	biolink:PhenotypicFeature	hp	UMLS:C4073200		Abnormality of muscle of nose|Abnormality of musculature of the nose|Abnormality of nasal musculature	http://purl.obolibrary.org/obo/HP_0430018	An abnormality of the muscles of the structure of the nose.
HP:0430019	Abnormality of muscle of facial expression	biolink:PhenotypicFeature	hp	UMLS:C4073201		Abnormality of muscle of facial expression|Abnormality of musculature of facial expression	http://purl.obolibrary.org/obo/HP_0430019	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	biolink:PhenotypicFeature	hp	UMLS:C4073202			http://purl.obolibrary.org/obo/HP_0430020	An abnormality of the levator labii superioris alaeque nasi muscle.
HP:0430021	Abnormal common carotid artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4073203		Abnormality of the common carotid artery	http://purl.obolibrary.org/obo/HP_0430021	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	biolink:PhenotypicFeature	hp	UMLS:C4073204		Abnormality of the sphenoidal sinus	http://purl.obolibrary.org/obo/HP_0430022	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	biolink:PhenotypicFeature	hp	UMLS:C4073205		Abnormality of the upper jaw sinus|Abnormality of the antrum of Highmore|Abnormality of the maxillary antrum	http://purl.obolibrary.org/obo/HP_0430023	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	biolink:PhenotypicFeature	hp	UMLS:C4073206			http://purl.obolibrary.org/obo/HP_0430024	An abnormality of an external jugular vein of the neck.
HP:0430025	Bilateral facial palsy	biolink:PhenotypicFeature	hp	UMLS:C4073207		Paralysis of both sides of the face|Weakness of both sides of the face|Bilateral facial muscle paralysis|Bilateral facial muscle weakness|Bilateral facial paralysis	http://purl.obolibrary.org/obo/HP_0430025	Two-sided or bilateral weakness of the muscles of facial expression and eye closure.
HP:0430026	Abnormality of the shape of the midface	biolink:PhenotypicFeature	hp	UMLS:C4073208		Abnormality of the shape of the midface|Abnormal morphology of the midface|Dysmorphic midface	http://purl.obolibrary.org/obo/HP_0430026	An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.
HP:0430028	Hyperplasia of the maxilla	biolink:PhenotypicFeature	hp	SNOMEDCT_US:28070007|UMLS:C0266081|UMLS:C2227090|UMLS:C4073209|UMLS:C4280272|UMLS:C4280273		Big maxilla|Big upper jaw|Increased size of upper jaw|Large upper jaw|Prominent upper jaw|Upper jaw excess|Increased projection of upper jaw|Hyperplasia of upper jaw|Increased size of maxilla|Large maxilla|Maxillary excess|Maxillary hyperplasia|Maxillary macrognathia|Maxillary prominence|Prominent maxilla|Upper jaw bone excess|Increased projection of maxilla|Hypertrophy of maxilla|Hypertrophy of upper jaw|Maxillary prognathia|Prognathia of the upper jaw	http://purl.obolibrary.org/obo/HP_0430028	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	biolink:PhenotypicFeature	hp	UMLS:C4073210		Large premaxilla|Large primary palate bone|Premaxillary excess|Primary palate bone excess|Hyperplasia of the intermaxillary bone|Hyperplasia of the primary palate bone|Increased size of premaxilla|Increased size of the primary palate bone	http://purl.obolibrary.org/obo/HP_0430029	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	biolink:PhenotypicFeature	hp			BO|Body odor|Body odour|Bromhidrosis|Bromidrosis|Osmidrosis	http://purl.obolibrary.org/obo/HP_0500001	A perceived unpleasant smell given off by the body.
HP:0500005	Anal pain	biolink:PhenotypicFeature	hp			Anal pain|Rectal pain	http://purl.obolibrary.org/obo/HP_0500005	Pain in and around the anus or rectum (perianal region).
HP:0500006	Urethritis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500006	Inflammation of the urethra.
HP:0500007	Iris flocculi	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500007	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	biolink:PhenotypicFeature	hp			Vortex keratopathy	http://purl.obolibrary.org/obo/HP_0500008	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	biolink:PhenotypicFeature	hp			LDD|Lhermitte-Duclos disease	http://purl.obolibrary.org/obo/HP_0500009	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:0500010	obsolete Increased cholesterol esters	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500010	
HP:0500011	Moon facies	biolink:PhenotypicFeature	hp			Moon face|Puffy face|Puffy facies	http://purl.obolibrary.org/obo/HP_0500011	A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.
HP:0500012	Abnormality of gonadotropin-releasing hormone level	biolink:PhenotypicFeature	hp			Abnormality of GnRH level	http://purl.obolibrary.org/obo/HP_0500012	A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.
HP:0500013	Lack of gonadotropin-releasing hormone pulsatility	biolink:PhenotypicFeature	hp			Absence of GnRH pulsatility	http://purl.obolibrary.org/obo/HP_0500013	Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.
HP:0500014	obsolete Abnormal test result	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500014	
HP:0500015	Abnormal cardiac test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500015	Abnormal test result of cardiovascular physiology.
HP:0500016	Abnormal cardiac MRI	biolink:PhenotypicFeature	hp			Abnormal cardiac magnetic resonance imaging|Abnormal heart MRI	http://purl.obolibrary.org/obo/HP_0500016	Abnormal results of a MRI for the heart.
HP:0500017	Abnormal cardiac catheterization	biolink:PhenotypicFeature	hp			Abnormal cardiac cath	http://purl.obolibrary.org/obo/HP_0500017	Abnormal results from the diagnostic tests resulting from cardiac catheterization.
HP:0500018	Abnormal cardiac exercise stress test	biolink:PhenotypicFeature	hp			Abnormal exercise test|Abnormal treadmill test|Abnormal cardiac exercise test	http://purl.obolibrary.org/obo/HP_0500018	Abnormal results of exercise on heart function.
HP:0500019	Abnormal resting energy expenditure from metabolic cart test	biolink:PhenotypicFeature	hp			Abnormal metabolic cart test	http://purl.obolibrary.org/obo/HP_0500019	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500020	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500021	An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).
HP:0500022	Abnormal serum dehydroepiandrosterone level	biolink:PhenotypicFeature	hp			Abnormal serum DHEA|Abnormal serum androstenolone level	http://purl.obolibrary.org/obo/HP_0500022	A deviation from the normal concentration of dehydroepiandrosterone in the circulation.
HP:0500023	Shoulder muscle aplasia	biolink:PhenotypicFeature	hp			Absent shoulder muscle	http://purl.obolibrary.org/obo/HP_0500023	Absence of shoulder muscles.
HP:0500024	Aplasia of the musculature of the pelvis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500024	Absence of the musculature of the pelvis.
HP:0500026	Hypoplasia of the musculature of the pelvis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500026	Underdevelopment of the musculature of the pelvis.
HP:0500027	Aplastic colon	biolink:PhenotypicFeature	hp			Absence of the colon|Aplasia of the colon	http://purl.obolibrary.org/obo/HP_0500027	Congenital absence of the colon
HP:0500028	Cotton wool plaques	biolink:PhenotypicFeature	hp			CWPs	http://purl.obolibrary.org/obo/HP_0500028	Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.
HP:0500030	Abnormal hepatic glycogen storage	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500030	Change in normal glycogen storage content.
HP:0500031	Sclerosis of the carpal bones	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500031	An elevation in bone density in one or more carpal bones of the hand.
HP:0500032	Abnormal neuron branching	biolink:PhenotypicFeature	hp			Aberrant neuronal branching|Abnormal neuronal branching	http://purl.obolibrary.org/obo/HP_0500032	Abnormality of the structure and branching of the dendrites of a neuron.
HP:0500033	Abnormal natural killer subset distribution	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500033	Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.
HP:0500034	Nasolacrimal sac obstruction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500034	Blockage of the nasolacrimal sac.
HP:0500035	Nasolacrimal sac granuloma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500035	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500036	Benign tumor of the nasolacrimal sac.
HP:0500037	Nasolacrimal sac epithelial papillary carcinoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500037	The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.
HP:0500039	Conjunctival cicatrization	biolink:PhenotypicFeature	hp			Cicatricial conjunctivitis|Cicatrizating conjunctivitis|Conjunctival cicatricial conjunctivitis	http://purl.obolibrary.org/obo/HP_0500039	An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.
HP:0500040	Dermolipoma of the conjunctiva	biolink:PhenotypicFeature	hp			Conjunctival lipodermoid	http://purl.obolibrary.org/obo/HP_0500040	A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.
HP:0500041	Myopic astigmatism	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500041	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	biolink:PhenotypicFeature	hp			Latent hyperopia	http://purl.obolibrary.org/obo/HP_0500042	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500043	With the eyes in primary position, the sclera is visible above the superior corneal limbus.
HP:0500044	Upper eyelid retraction	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500044	An elevation of the eyelid above the normal level in the primary position.
HP:0500045	Collier's sign	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500045	A unilateral or bilateral eyelid retraction due to midbrain lesions.
HP:0500046	Seborrhoeic blepharitis	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500046	Inflamation of the eyelid due to overactivity of the sebaceous gland.
HP:0500047	Nasolacrimal sac lymphoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500047	A type of lymphoma that involves the nasolacrimal sac.
HP:0500048	Delayed canalization of nasolacrimal duct	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500048	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500049	An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.
HP:0500050	Retinopathy of prematurity stage 1	biolink:PhenotypicFeature	hp			ROP stage 1	http://purl.obolibrary.org/obo/HP_0500050	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	biolink:PhenotypicFeature	hp			ROP stage 2	http://purl.obolibrary.org/obo/HP_0500051	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	biolink:PhenotypicFeature	hp			ROP stage 3	http://purl.obolibrary.org/obo/HP_0500052	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	biolink:PhenotypicFeature	hp			ROP stage 4	http://purl.obolibrary.org/obo/HP_0500053	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	biolink:PhenotypicFeature	hp			ROP stage 4a	http://purl.obolibrary.org/obo/HP_0500054	A detachment that involves the peripheral retina that does not extend into the macula.
HP:0500055	Retinopathy of prematurity stage 4b	biolink:PhenotypicFeature	hp			ROP 4b	http://purl.obolibrary.org/obo/HP_0500055	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	biolink:PhenotypicFeature	hp			ROP stage 5	http://purl.obolibrary.org/obo/HP_0500056	Funnel detachment from the retina with generally traction in all four quadrants.
HP:0500057	Retinopathy of prematurity stage 5a	biolink:PhenotypicFeature	hp			ROP stage 5a	http://purl.obolibrary.org/obo/HP_0500057	An open funnel detachment of the retina with generally traction in all four quadrants.
HP:0500058	Retinopathy of prematurity stage 5b	biolink:PhenotypicFeature	hp			ROP stage 5b	http://purl.obolibrary.org/obo/HP_0500058	A closed funnel detachment of the retina with generally traction in all four quadrants.
HP:0500059	Retinopathy of prematurity zone I	biolink:PhenotypicFeature	hp			ROP zone 1	http://purl.obolibrary.org/obo/HP_0500059	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	biolink:PhenotypicFeature	hp			ROP zone II	http://purl.obolibrary.org/obo/HP_0500060	Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.
HP:0500061	Retinopathy of prematurity zone III	biolink:PhenotypicFeature	hp			ROP zone III	http://purl.obolibrary.org/obo/HP_0500061	Retinopathy which is a residual crescent of retina anterior to zone II.
HP:0500062	Retinopathy of prematurity plus	biolink:PhenotypicFeature	hp			ROP plus	http://purl.obolibrary.org/obo/HP_0500062	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	biolink:PhenotypicFeature	hp			ROP pre-plus	http://purl.obolibrary.org/obo/HP_0500063	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	biolink:PhenotypicFeature	hp			ROP threshold	http://purl.obolibrary.org/obo/HP_0500064	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	biolink:PhenotypicFeature	hp			ROP prethreshold	http://purl.obolibrary.org/obo/HP_0500065	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500066	The difference between total and manifest myopia.
HP:0500069	Paralytic ectropion	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500069	A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.
HP:0500070	Conjunctival dermolipoma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500070	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500072	Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.
HP:0500073	Abnormal ocular alignment	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500073	Any deviation from the normal ocular alignment.
HP:0500074	Dissociated vertical deviation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500074	An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.
HP:0500075	Dissociated horizontal deviation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500075	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500076	A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.
HP:0500077	Alternating hyperphoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500077	A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.
HP:0500078	Alternating hypotropia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500078	A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.
HP:0500079	Alternating hypophoria	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500079	A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.
HP:0500081	Pseudophakia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500081	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	biolink:PhenotypicFeature	hp			Optic nerve grey crescent|Temporal gray pigmentary crescent	http://purl.obolibrary.org/obo/HP_0500086	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500087	Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
HP:0500088	Foveal depigmentation	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500088	Loss of pigment in the fovea centralis.
HP:0500089	Optic nerve sheath meningioma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500089	A benign tumour 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	biolink:PhenotypicFeature	hp			Peri-ocular capillary hemangioma	http://purl.obolibrary.org/obo/HP_0500090	A capillary hemangioma surrounding the eyeball but within the orbit.
HP:0500091	Lymphangioma of the orbit	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500091	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500092	A mesenchymal tumour 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	biolink:PhenotypicFeature	hp			Food allergy|IgE-mediated food allergy|Immunoglobulin E-mediated food allergy	http://purl.obolibrary.org/obo/HP_0500093	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500094	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500095	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500096	A form of anaphylaxis that is triggered by exposure to venom.
HP:0500097	Stool xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500097	Presence of xenobiotic in stool.
HP:0500098	Meconium xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500098	Presence of a xenobiotic in meconium.
HP:0500099	Hair xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500099	Presence of xenobiotic in hair.
HP:0500100	Plasma/serum xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500100	Presence of a xenobiotic in plasma and/or serum.
HP:0500101	Gastric fluid xenobiotic	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500101	Presence of a xenobiotic in gastric fluid.
HP:0500104	Decreased diastolic blood pressure	biolink:PhenotypicFeature	hp			Decreased diastolic BP|Reduced diastolic blood pressure.	http://purl.obolibrary.org/obo/HP_0500104	Abnormal decrease in diastolic blood pressure.
HP:0500105	Decreased systolic blood pressure	biolink:PhenotypicFeature	hp			Decreased systolic BP|Reduced systolic blood pressure	http://purl.obolibrary.org/obo/HP_0500105	Abnormal decrease in systolic blood pressure.
HP:0500106	Isolated systolic hypertension	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500106	Elevated systolic blood pressure without an elevated blood pressure.
HP:0500107	Isolated diastolic hypotension	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500107	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500108	Detection of cocaine or its major metabolite, benzoylecgonine, in urine.
HP:0500109	Positive urine barbiturate test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500109	Detection of barbiturate metabolites such as Phenobarbital in urine.
HP:0500110	Positive urine cannabinoid test	biolink:PhenotypicFeature	hp			Positive urine marijuana test|Postive urine pot test	http://purl.obolibrary.org/obo/HP_0500110	Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.
HP:0500111	Positive urine benzodiazepines test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500111	Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.
HP:0500112	Positive urine amphetamine test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500112	Detection of amphetamine or its metabolites in urine.
HP:0500113	Positive urine opioid test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500113	Detection of opioids or opioid metabolites in urine.
HP:0500114	Abnormal stool urobilinogen concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500114	Abnormal concentration of urobilinogen present in the stool.
HP:0500115	Increased stool urobilinogen concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500115	An increased amount of urobilinogen present in the stool.
HP:0500116	Positive blood barbiturate test	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500116	Detection of barbiturate metabolites such as Phenobarbital in blood.
HP:0500117	Abnormal CSF urate concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500117	Abnormal concentration of urate in the cerebrospinal fluid (CSF).
HP:0500132	Hypovalinemia	biolink:PhenotypicFeature	hp			Low blood valine concentration	http://purl.obolibrary.org/obo/HP_0500132	A decreased amount of valine in the blood.
HP:0500133	Hypotyrosinemia	biolink:PhenotypicFeature	hp			Decreased tyrosine in blood|Low blood tyrosine concentration	http://purl.obolibrary.org/obo/HP_0500133	An decreased concentration of tyrosine in the blood.
HP:0500134	Hypertryptophanemia	biolink:PhenotypicFeature	hp			High blood tryptophan concentration|Increased tryptophan in blood	http://purl.obolibrary.org/obo/HP_0500134	An increased amount of tryptophan in the blood.
HP:0500135	Hypotryptophanemia	biolink:PhenotypicFeature	hp			Decreased tryptophan in blood|Low blood tryptophan concentration	http://purl.obolibrary.org/obo/HP_0500135	A decreased amount of tryptophan in the blood.
HP:0500136	Hypothreoninemia	biolink:PhenotypicFeature	hp			Decreased threonine blood levels|Low blood threonine concentration|Decreased circulating threonine levels	http://purl.obolibrary.org/obo/HP_0500136	A decreased amount of threonine in the blood.
HP:0500138	Hyperserinemia	biolink:PhenotypicFeature	hp			High blood serine levels|Increased serine blood concentration|Elevated circulating serine levels	http://purl.obolibrary.org/obo/HP_0500138	An increased amount of serine in the blood.
HP:0500139	Hypoprolinemia	biolink:PhenotypicFeature	hp			Decreased blood proline levels|Low blood proline concentration	http://purl.obolibrary.org/obo/HP_0500139	A decreased amount of proline in the blood.
HP:0500140	Decreased circulating hydroxyproline concentration	biolink:PhenotypicFeature	hp			Decreased hydroxyproline in the blood|Low level of hydroxyproline in the blood	http://purl.obolibrary.org/obo/HP_0500140	A decreased amount of hydroxyproline in the blood.
HP:0500141	Hypophenylalaninemia	biolink:PhenotypicFeature	hp			Decreased blood phenylalanine|Low blood phenylalanine	http://purl.obolibrary.org/obo/HP_0500141	A decreased amount of phenylalanine in the blood.
HP:0500142	Hypolysinemia	biolink:PhenotypicFeature	hp			Decreased blood lysine|Low blood lysine levels	http://purl.obolibrary.org/obo/HP_0500142	A decreased amount of lysine in the blood.
HP:0500143	Hypoleucinemia	biolink:PhenotypicFeature	hp			Decreased blood concentration of leucine|Low blood leucine levels	http://purl.obolibrary.org/obo/HP_0500143	Decreased amount of leucine in the blood.
HP:0500144	Hypoisoleucinemia	biolink:PhenotypicFeature	hp			Decreased blood isoleucine concentration|Low blood isoleucine levels	http://purl.obolibrary.org/obo/HP_0500144	A decreased amount of isoleucine in the blood.
HP:0500145	Hypohistidinemia	biolink:PhenotypicFeature	hp			Decreased blood histidine concentration|Low blood histidine levels	http://purl.obolibrary.org/obo/HP_0500145	A decreased amount of histidine in the blood.
HP:0500147	Hypoglutaminemia	biolink:PhenotypicFeature	hp			Decreased blood glutamine concentration|Low blood glutamine level	http://purl.obolibrary.org/obo/HP_0500147	Decreased amount of glutamine in the blood.
HP:0500148	Abnormal circulating glutamate concentration	biolink:PhenotypicFeature	hp			Abnormality of glutamate metabolism	http://purl.obolibrary.org/obo/HP_0500148	Any deviation from the normal concentration of glutamate in the blood circulation.
HP:0500149	Hyperglutamatemia	biolink:PhenotypicFeature	hp			High blood glutamate levels|Increased blood glutamate concentration	http://purl.obolibrary.org/obo/HP_0500149	An increased amount of glutamate in the blood.
HP:0500150	Hypoglutamatemia	biolink:PhenotypicFeature	hp			Decreased blood glutamate concentrations|Low blood glutamate levels	http://purl.obolibrary.org/obo/HP_0500150	A decreased amount of glutamate in the blood.
HP:0500151	Hypercystinemia	biolink:PhenotypicFeature	hp			High blood cystine levels|Increased blood cystine concentraions	http://purl.obolibrary.org/obo/HP_0500151	An increased amount of cystine in the blood.
HP:0500152	Hypocystinemia	biolink:PhenotypicFeature	hp			Decreased blood cystine concentration|Low blood cystine levels	http://purl.obolibrary.org/obo/HP_0500152	A decreased amount of cystine in the blood.
HP:0500153	Hyperargininemia	biolink:PhenotypicFeature	hp			High blood arginine levels|Increased blood arginine concentration	http://purl.obolibrary.org/obo/HP_0500153	An increased amount of arginine levels in the blood.
HP:0500154	Hypoalaninemia	biolink:PhenotypicFeature	hp			Decreased blood alanine concentration|Low blood alanine levels	http://purl.obolibrary.org/obo/HP_0500154	A decreased amount of alanine in the blood.
HP:0500155	Abnormal circulating asparagine concentration	biolink:PhenotypicFeature	hp			Abnormality of asparagine metabolism	http://purl.obolibrary.org/obo/HP_0500155	Any deviation from the normal concentration of asparagine in the blood circulation.
HP:0500156	Hyperasparaginemia	biolink:PhenotypicFeature	hp			High blood asaparagine levels|Increased blood asparagine concentration	http://purl.obolibrary.org/obo/HP_0500156	An increased amount of asparagine in the blood.
HP:0500157	Hypoasparaginemia	biolink:PhenotypicFeature	hp			Decreased blood asparagine concentration|Low blood asparagine levels	http://purl.obolibrary.org/obo/HP_0500157	A decreased amount of asparagine in the blood.
HP:0500158	Abnormal circulating aspartic acid concentration	biolink:PhenotypicFeature	hp			Abnormal circulating aspartate concentration	http://purl.obolibrary.org/obo/HP_0500158	Any deviation from the normal concentration of aspartate in the blood circulation.
HP:0500159	Increased level of circulating aspartic acid	biolink:PhenotypicFeature	hp			High blood aspartic acid levels|Increased blood aspartic acid	http://purl.obolibrary.org/obo/HP_0500159	An increased amount of aspartic acid in the blood.
HP:0500160	Abnormal circulating carnosine concentration	biolink:PhenotypicFeature	hp			Abnormality of carnosine metabolism	http://purl.obolibrary.org/obo/HP_0500160	Any deviation from the normal concentration of carnosine in the blood circulation.
HP:0500161	Increased level of carnosine in blood	biolink:PhenotypicFeature	hp			High blood carnosine levels|Increased blood carnosine concenrtation	http://purl.obolibrary.org/obo/HP_0500161	An increased amount of carnosine in the blood.
HP:0500162	Decreased level of carnosine in blood	biolink:PhenotypicFeature	hp			Decreased blood carnosine concentration|Low blood carnosine levels	http://purl.obolibrary.org/obo/HP_0500162	A decreased amount of carnosine in bood.
HP:0500163	Hypoornithinemia	biolink:PhenotypicFeature	hp			Decreased blood ornithine concentrations|Low blood ornithine levels	http://purl.obolibrary.org/obo/HP_0500163	An abnormal decrease in ornithine in the blood.
HP:0500164	Abnormal blood carbon dioxide level	biolink:PhenotypicFeature	hp			Abnormal CO2 levels in blood|Abnormal blood carbon dioxide level	http://purl.obolibrary.org/obo/HP_0500164	An abnormality of carbon dioxide (CO2) in the arterial blood.
HP:0500165	Abnormal blood oxygen level	biolink:PhenotypicFeature	hp			Abnormal blood O2 level|Abnormal blood oxygen levels|Abnromal O2 blood concentration	http://purl.obolibrary.org/obo/HP_0500165	An abnormality of the partial pressure of oxygen in the arterial blood.
HP:0500166	Abnormal circulating gastrin level	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500166	An abnormal concentration of gastrin in the blood.
HP:0500167	Hypergastrinemia	biolink:PhenotypicFeature	hp			Elevated gastrin in the blood|Increased blood gastrin	http://purl.obolibrary.org/obo/HP_0500167	An elevated amount of gastrin in the blood.
HP:0500170	Abnormal concentration of acylcarnitine in the urine	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500170	An abnormal amount of acylcarnitine in the urine.
HP:0500173	Reflex asystolic syncope	biolink:PhenotypicFeature	hp			Reflex anoxic seizure|Reflex anoxic seizures	http://purl.obolibrary.org/obo/HP_0500173	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500180	
HP:0500181	Hypertaurinemia	biolink:PhenotypicFeature	hp			Elevated serum taurine levels|Increased circulating taurine levels in the blood	http://purl.obolibrary.org/obo/HP_0500181	An increased amount of taurine in the blood.
HP:0500182	Hypotaurinemia	biolink:PhenotypicFeature	hp			Decreased circulating taurine levels|Lower blood levels of taurine|Reduced taurine levels in the blood	http://purl.obolibrary.org/obo/HP_0500182	A decreased amount of taurine in the blood.
HP:0500183	Abnormal CSF carboxylic acid concentration	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500183	Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.
HP:0500184	Abnormal CSF amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal CSF amino acid level|Abnormal amino acid levels in cerebrospinal fluid|Abnormal cerebrospinal fluid amino acid level	http://purl.obolibrary.org/obo/HP_0500184	Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.
HP:0500185	Abnormal CSF branched chain amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal branched-chain amino acid levels in cerbrospinal fluid	http://purl.obolibrary.org/obo/HP_0500185	Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.
HP:0500186	Abnormal CSF valine concentration	biolink:PhenotypicFeature	hp			Abnormal valine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500186	Any deviation from the normal concentration of valine in the cerebrospinal fluid.
HP:0500187	Increased CSF valine concentration	biolink:PhenotypicFeature	hp			High valine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500187	Any increased amount from normal of valine in the cerebrospinal fluid.
HP:0500188	Decreased CSF valine concentration	biolink:PhenotypicFeature	hp			Low valine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500188	Any decreased amount from normal of valine in the cerebrospinal fluid.
HP:0500189	Abnormal CSF leucine concentration	biolink:PhenotypicFeature	hp			Abnormal leucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500189	Any deviation from the normal concentration of leucine in the cerebrospinal fluid.
HP:0500190	Decreased CSF leucine concentration	biolink:PhenotypicFeature	hp			Low leucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500190	Abnormally decreased levels of leucine in the cerebrospinal fluid.
HP:0500191	Increased CSF leucine concentration	biolink:PhenotypicFeature	hp			High leucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500191	Abnormally increased levels of leucine in cerebrospinal fluid.
HP:0500192	Abnormal CSF isoleucine concentration	biolink:PhenotypicFeature	hp			Abnormal isoleucine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500192	Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.
HP:0500193	Increased CSF isoleucine concentration	biolink:PhenotypicFeature	hp			High levels of isoleucine in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500193	Abnormally increased levels of isoleucine in cerebrospinal fluid.
HP:0500194	Decreased CSF isoleucine concentration	biolink:PhenotypicFeature	hp			Low levels of isoleucine in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500194	Abnormally decreased levels of isoleucine in cerebrospinal fluid.
HP:0500195	Abnormal CSF glutamine family amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal glutamine family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500195	Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.
HP:0500196	Abnormal CSF glutamine concentration	biolink:PhenotypicFeature	hp			Abnormal glutamine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500196	Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.
HP:0500197	Increased CSF glutamine concentration	biolink:PhenotypicFeature	hp			High glutamine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500197	Abnormally increased levels of glutamine in cerebrospinal fluid.
HP:0500198	Decreased CSF glutamine concentration	biolink:PhenotypicFeature	hp			Low glutamine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500198	Abnormally decreased levels of glutamine in cerebrospinal fluid.
HP:0500199	Abnormal CSF glutamate concentration	biolink:PhenotypicFeature	hp			Abnormal glutamic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500199	Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.
HP:0500200	Increased CSF glutamate concentration	biolink:PhenotypicFeature	hp			High glutamic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500200	Abnormally increased levels of glutamic acid in cerebrospinal fluid.
HP:0500201	Decreased CSF glutamate concentration	biolink:PhenotypicFeature	hp			Low glutamic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500201	Abnormally decreased levels of glutamic acid in cerebrospinal fluid.
HP:0500202	Abnormal CSF arginine concentration	biolink:PhenotypicFeature	hp			Abnormal arginine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500202	Any deviation from the normal concentration of arginine in the cerebrospinal fluid.
HP:0500203	Increased CSF arginine concentration	biolink:PhenotypicFeature	hp			High arginine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500203	Abnormally increased levels of arginine in cerebrospinal fluid.
HP:0500204	Decreased CSF arginine concentration	biolink:PhenotypicFeature	hp			Low arginine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500204	Abnormally decreased levels of arginine in cerebrospinal fluid.
HP:0500205	Abnormal CSF aspartate family amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal aspartate-family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500205	Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.
HP:0500206	Abnormal CSF lysine concentration	biolink:PhenotypicFeature	hp			Abnormal lysine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500206	Any deviation from the normal concentration of lysine in the cerebrospinal fluid.
HP:0500207	Decreased CSF lysine concentration	biolink:PhenotypicFeature	hp			Low lysine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500207	Abnormally decreased levels of lysine in cerebrospinal fluid.
HP:0500208	Increased CSF lysine concentration	biolink:PhenotypicFeature	hp			High lysine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500208	Abnormally increased levels of lysine in cerebrospinal fluid.
HP:0500209	Abnormal CSF methionine concentration	biolink:PhenotypicFeature	hp			Abnormal methionine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500209	Any deviation from the normal concentration of methionine in the cerebrospinal fluid.
HP:0500210	Increased CSF methionine concentration	biolink:PhenotypicFeature	hp			High methionine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500210	Abnormally increased levels of methionine in cerebrospinal fluid.
HP:0500211	Abnormal CSF threonine concentration	biolink:PhenotypicFeature	hp			Abnormal threonine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500211	Any deviation from the normal concentration of threonine in the cerebrospinal fluid.
HP:0500212	Increased CSF threonine concentration	biolink:PhenotypicFeature	hp			High threonine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500212	Abnormally increased levels of threonine in cerebrospinal fluid.
HP:0500213	Decreased CSF threonine concentration	biolink:PhenotypicFeature	hp			Low threonine levels in the cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500213	Abnormally decreased levels of threonine in cerebrospinal fluid.
HP:0500214	Abnormal CSF aromatic amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal aromatic amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500214	Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.
HP:0500215	Abnormal CSF phenylalanine concentration	biolink:PhenotypicFeature	hp			Abnormal phenylalanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500215	Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.
HP:0500216	Abnormal CSF aspartate concentration	biolink:PhenotypicFeature	hp			Abnormal CSF aspartic acid concentration|Abnormal aspartic acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500216	Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.
HP:0500217	Increased CSF aspartate concentration	biolink:PhenotypicFeature	hp			High aspartic acid levels in cerebrospinal fluid|Increased CSF aspartic acid concentration	http://purl.obolibrary.org/obo/HP_0500217	Abnormally increased levels of aspartic acid in cerebrospinal fluid.
HP:0500218	Abnormal CSF tryptophan concentration	biolink:PhenotypicFeature	hp			Abnormal tryptophan levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500218	Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.
HP:0500219	Abnormal CSF tyrosine concentration	biolink:PhenotypicFeature	hp			Abnormal tyrosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500219	Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.
HP:0500220	Increased CSF tyrosine concentration	biolink:PhenotypicFeature	hp			High tyrosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500220	Abnormally increased levels of tyrosine in cerebrospinal fluid.
HP:0500221	Decreased CSF tyrosine concentration	biolink:PhenotypicFeature	hp			Low tyrosine levels in the cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500221	Abnormally decreased levels of tyrosine in cerebrospinal fluid.
HP:0500222	Increased CSF tryptophan concentration	biolink:PhenotypicFeature	hp			High tryptophan levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500222	Abnormally increased levels of tryptophan in cerebrospinal fluid.
HP:0500223	Increased CSF phenylalanine concentration	biolink:PhenotypicFeature	hp			High phenylalanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500223	Abnormally increased levels of phenylalanine in cerebrospinal fluid.
HP:0500224	Decreased CSF phenylalanine concentration	biolink:PhenotypicFeature	hp			Low phenylalanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500224	Abnormally decreased levels of phenylalanine in cerebrospinal fluid.
HP:0500225	Abnormal CSF serine family amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal serine-family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500225	Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.
HP:0500226	Abnormal CSF serine concentration	biolink:PhenotypicFeature	hp			Abnormal serine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500226	Any deviation from the normal concentration of serine in the cerebrospinal fluid.
HP:0500227	Increased CSF serine concentration	biolink:PhenotypicFeature	hp			High serine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500227	Abnormally increased levels of serine in cerebrospinal fluid.
HP:0500228	Decreased CSF serine concentration	biolink:PhenotypicFeature	hp			Low serine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500228	Abnormally decreased levels of serine in cerebrospinal fluid.
HP:0500229	Abnormal CSF glycine concentration	biolink:PhenotypicFeature	hp			Abnormal glycine levels in cerebrospinal fluid.	http://purl.obolibrary.org/obo/HP_0500229	Any deviation from the normal concentration of glycine in the cerebrospinal fluid.
HP:0500230	Increased CSF glycine concentration	biolink:PhenotypicFeature	hp			High glycine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500230	Abnormally increased levels of glycine in cerebrospinal fluid.
HP:0500231	Abnormal CSF pyruvate family amino acid concentration	biolink:PhenotypicFeature	hp			Abnormal pyruvate-family amino acid levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500231	Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.
HP:0500232	Abnormal CSF alanine concentration	biolink:PhenotypicFeature	hp			Abnormal alanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500232	Any deviation from the normal concentration of alanine in the cerebrospinal fluid.
HP:0500233	Increased CSF alanine concentration	biolink:PhenotypicFeature	hp			High alanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500233	Abnormally increased levels of alanine in cerebrospinal fluid.
HP:0500234	Decreased CSF alanine concentration	biolink:PhenotypicFeature	hp			Low alanine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500234	Abnormally decreased levels of alanine in cerebrospinal fluid.
HP:0500235	Abnormal CSF histidine concentration	biolink:PhenotypicFeature	hp			Abnormal histidine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500235	Any deviation from the normal concentration of histidine in the cerebrospinal fluid.
HP:0500236	Increased CSF histidine concentration	biolink:PhenotypicFeature	hp			High histidine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500236	Abnormally increased levels of histidine in cerebrospinal fluid.
HP:0500237	Decreased CSF histidine concentration	biolink:PhenotypicFeature	hp			Low histidine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500237	Abnormally decreased levels of histidine in cerebrospinal fluid.
HP:0500238	Abnormal CSF albumin concentration	biolink:PhenotypicFeature	hp			Abnormal albumin levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500238	Any deviation from the normal concentration of albumin in the cerebrospinal fluid.
HP:0500239	Increased CSF albumin concentration	biolink:PhenotypicFeature	hp			High albumin levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500239	
HP:0500240	Abnormal CSF carnosine concentration	biolink:PhenotypicFeature	hp			Abnormal carnosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500240	Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.
HP:0500241	Abnormal CSF homocarnosine concentration	biolink:PhenotypicFeature	hp			Abnormal homocarnosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500241	Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.
HP:0500242	Increased CSF homocarnosine concentration	biolink:PhenotypicFeature	hp			High homocarnosine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500242	Abnormally increased levels of homocarnosine in cerebrospinal fluid.
HP:0500243	Abnormal CSF ornithine concentration	biolink:PhenotypicFeature	hp			Abnormal ornithine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500243	Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.
HP:0500244	Increased CSF ornithine concentration	biolink:PhenotypicFeature	hp			High ornithine levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500244	Abnormally increased levels of ornithine in cerebrospinal fluid.
HP:0500245	Abnormal CSF citrulline concentration	biolink:PhenotypicFeature	hp			Abnormal citrulline levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500245	Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.
HP:0500246	Increased CSF citrulline concentration	biolink:PhenotypicFeature	hp			High citrulline levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500246	Abnormally increased levels of citrulline in cerebrospinal fluid.
HP:0500247	Abnormal CSF alpha-aminobutyrate concentration	biolink:PhenotypicFeature	hp			Abnormal alpha-aminobutyrate levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500247	Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.
HP:0500248	Increased CSF alpha-aminobutyrate concentration	biolink:PhenotypicFeature	hp			High alpha-aminobutyrate levels in cerebrospinal fluid	http://purl.obolibrary.org/obo/HP_0500248	Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.
HP:0500249	Abnormal circulating ethanolamine concentration	biolink:PhenotypicFeature	hp			Abnormal ethanolamine levels in the blood	http://purl.obolibrary.org/obo/HP_0500249	Any deviation from the normal concentration of ethanolamine in circulation.
HP:0500250	Increased circulating ethanolamine concentration	biolink:PhenotypicFeature	hp			High ethanolamine levels in the blood	http://purl.obolibrary.org/obo/HP_0500250	Abnormally increased levels of ethanolamine in circulation.
HP:0500251	Abnormal urine sebacic acid concentration	biolink:PhenotypicFeature	hp			Abnormal urine decanedioic acid concentration	http://purl.obolibrary.org/obo/HP_0500251	Abnormal concentration of sebacic acid in the urine.
HP:0500252	Increased urine sebacic acid concentration	biolink:PhenotypicFeature	hp			Increased urine decanedioic acid concentration	http://purl.obolibrary.org/obo/HP_0500252	Elevated concentration of sebacic acid in the urine.
HP:0500253	Increased level of gamma-aminobutyric acid in urine	biolink:PhenotypicFeature	hp			Increased urinary excretion of gamma-aminobutyric acid (GABA)	http://purl.obolibrary.org/obo/HP_0500253	Elevated concentration of gamma-aminobutyric acid in the urine.
HP:0500254	Abnormal urine hexanoylglycine concentration	biolink:PhenotypicFeature	hp			Abnormal urinary N-hexanoylglycine levels	http://purl.obolibrary.org/obo/HP_0500254	Abnormal concentration of hexanoylglycine in the urine.
HP:0500255	Increased level of hexanoylglycine in urine	biolink:PhenotypicFeature	hp			Elevated urinary N-hexanoylglycine concentration	http://purl.obolibrary.org/obo/HP_0500255	Elevated concentration of hexanoylglycine in the urine.
HP:0500256	Abnormal urine isobutyrylglycine concentration	biolink:PhenotypicFeature	hp			Abnormal urinary isobutyrylglycine levels	http://purl.obolibrary.org/obo/HP_0500256	Abnormal concentration of isobutyrylglycine in the urine.
HP:0500257	Increased urine isobutyrylglycine concentration	biolink:PhenotypicFeature	hp			High urinary isobutyrylglycine levels	http://purl.obolibrary.org/obo/HP_0500257	Elevated concentration of isobutyrylglycine in the urine.
HP:0500258	Abnormal carbon dioxide level in cord blood	biolink:PhenotypicFeature	hp			Abnormal CO2 level in cord blood|Abnormal umbilical cord blood levels of carbon dioxide	http://purl.obolibrary.org/obo/HP_0500258	Abnormal amount of carbon dioxide in umbilical cord blood
HP:0500259	Abnormal oxygen level in cord blood	biolink:PhenotypicFeature	hp			Abnormal O2 level in cord blood|Abnormal cord blood oxygen levels|Abnormal oxygen amount in umbilical cord blood	http://purl.obolibrary.org/obo/HP_0500259	An abnormal level of blood oxygen in the cord blood.
HP:0500260	Triggered by head trauma	biolink:PhenotypicFeature	hp			Head trauma triggered symptoms	http://purl.obolibrary.org/obo/HP_0500260	Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.
HP:0500261	Triggered by anesthetics	biolink:PhenotypicFeature	hp			Triggered by anaesthetics|Anesthetics trigger episodes|Anesthetics triggered symptoms	http://purl.obolibrary.org/obo/HP_0500261	Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.
HP:0500262	Atrichia	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500262	The most dramatic and severe form of hair loss characterized by an absence of hair follicles.
HP:0500263	Abnormal helper T cell proportion	biolink:PhenotypicFeature	hp			Abnormal proportion of circulating T-helper cells	http://purl.obolibrary.org/obo/HP_0500263	Abnormal proportion of helper T cells relative to the total number of T cells.
HP:0500264	Increased helper T cell proportion	biolink:PhenotypicFeature	hp			Elevated helper T cell proportion|Increased proportion T-helper cells	http://purl.obolibrary.org/obo/HP_0500264	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	biolink:PhenotypicFeature	hp			Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated	http://purl.obolibrary.org/obo/HP_0500265	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	biolink:PhenotypicFeature	hp			Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated	http://purl.obolibrary.org/obo/HP_0500266	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	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0500267	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	biolink:PhenotypicFeature	hp			Abnormal proportion of gamma-delta T-lymphocytes|Abnormal proportion of gammadelta T cells|Abnormal proprotion of gamma-delta T lymphocytes	http://purl.obolibrary.org/obo/HP_0500269	Abnormal proportion of gamma-delta T cells relative to the total number of T cells.
HP:0500270	Increased proportion of gamma-delta T cells	biolink:PhenotypicFeature	hp			Elevated proportion of gamma-delta T cells|Increased proportion of gamma-delta T lymphocytes|Increased proportion of gamma-delta T-cells|Increased proportion of gamma-delta T-lymphocytes|Increased proportion of gammadelta T cells	http://purl.obolibrary.org/obo/HP_0500270	Increased proportion of gamma-delta T cells relative to the total number of T cells.
HP:0500271	Decreased proportion of gamma-delta T cells	biolink:PhenotypicFeature	hp			Decreased proportion of gamma-delta T lymphocytes|Decreased proportion of gamma-delta T-cells|Decreased proportion of gamma-delta T-lymphocytes|Decreased proportion of gammadelta T cells|Reduced proportion of gamma-delta T cells	http://purl.obolibrary.org/obo/HP_0500271	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	biolink:PhenotypicFeature	hp			Abnormal proportion of immature gamma-delta T lymphocytes|Abnormal proportion of immature gamma-delta T-cells|Abnormal proportion of immature gamma-delta T-lymphocytes	http://purl.obolibrary.org/obo/HP_0500272	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	biolink:PhenotypicFeature	hp			Elevated proportion of immature gamma-delta T cells|Increased proportion of immature gamma-delat T lymphocytes|Increased proportion of immature gamma-delta T-cells|Increased proportion of immature gamma-delta T-lymphocytes	http://purl.obolibrary.org/obo/HP_0500273	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	biolink:PhenotypicFeature	hp			Decreased proportion of immature gamma-delta T lymphocytes|Decreased proportion of immature gamma-delta T-cells|Decreased proportion of immature gamma-delta T-lymphocytes|Reduced proportion of immature gamma-delta T cells	http://purl.obolibrary.org/obo/HP_0500274	Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.
HP:0550003	Proximal scleroderma	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0550003	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	biolink:PhenotypicFeature	hp			Flat wart	http://purl.obolibrary.org/obo/HP_0550004	Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.
HP:0550005	Bilateral basilar pulmonary fibrosis	biolink:PhenotypicFeature	hp			Lung disease with systemic sclerosis|Scleroderma lung disease|Scleroderma of lung	http://purl.obolibrary.org/obo/HP_0550005	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:3000001	obsolete Abnormal heart morphology	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_3000001	
HP:3000002	Abnormal inner ear epithelium morphology	biolink:PhenotypicFeature	hp	UMLS:C4073211			http://purl.obolibrary.org/obo/HP_3000002	Any structural anomaly of an inner ear epithelium.
HP:3000003	Abnormal mandibular ramus morphology	biolink:PhenotypicFeature	hp	UMLS:C4073212		Abnormality of mandibular ramus	http://purl.obolibrary.org/obo/HP_3000003	An abnormality of a mandibular ramus.
HP:3000004	Abnormality of frontalis muscle belly	biolink:PhenotypicFeature	hp	UMLS:C4073213			http://purl.obolibrary.org/obo/HP_3000004	An abnormality of a frontalis muscle belly.
HP:3000005	Abnormality of masseter muscle	biolink:PhenotypicFeature	hp	UMLS:C4073214			http://purl.obolibrary.org/obo/HP_3000005	An abnormality of a masseter muscle.
HP:3000006	Abnormality of medial pterygoid muscle	biolink:PhenotypicFeature	hp	UMLS:C4073215			http://purl.obolibrary.org/obo/HP_3000006	An abnormality of a medial pterygoid muscle.
HP:3000007	Abnormality of mentalis muscle	biolink:PhenotypicFeature	hp	UMLS:C4073216			http://purl.obolibrary.org/obo/HP_3000007	An abnormality of a mentalis muscle.
HP:3000008	Abnormality of mylohyoid muscle	biolink:PhenotypicFeature	hp	UMLS:C4073217			http://purl.obolibrary.org/obo/HP_3000008	An abnormality of a mylohyoid muscle.
HP:3000009	Abnormality of nasalis muscle	biolink:PhenotypicFeature	hp	UMLS:C4073218			http://purl.obolibrary.org/obo/HP_3000009	An abnormality of a nasalis muscle.
HP:3000010	Abnormality of orbicularis oris muscle	biolink:PhenotypicFeature	hp	UMLS:C4073219			http://purl.obolibrary.org/obo/HP_3000010	An abnormality of an orbicularis oris muscle.
HP:3000011	Abnormality of palatoglossus muscle	biolink:PhenotypicFeature	hp	UMLS:C4073220			http://purl.obolibrary.org/obo/HP_3000011	An abnormality of a palatoglossus muscle.
HP:3000012	Abnormality of palatopharyngeus muscle	biolink:PhenotypicFeature	hp	UMLS:C4073221			http://purl.obolibrary.org/obo/HP_3000012	An abnormality of a palatopharyngeus muscle.
HP:3000013	Abnormality of platysma	biolink:PhenotypicFeature	hp	UMLS:C4073222		Abnormality of the platysma muscle	http://purl.obolibrary.org/obo/HP_3000013	An abnormality of the platysma muscle.
HP:3000014	Abnormality of procerus muscle	biolink:PhenotypicFeature	hp	UMLS:C4073223			http://purl.obolibrary.org/obo/HP_3000014	An abnormality of a procerus.
HP:3000015	Abnormality of risorius muscle	biolink:PhenotypicFeature	hp	UMLS:C4073224			http://purl.obolibrary.org/obo/HP_3000015	An abnormality of a risorius muscle.
HP:3000016	Abnormality of styloglossus muscle	biolink:PhenotypicFeature	hp	UMLS:C4073225			http://purl.obolibrary.org/obo/HP_3000016	An abnormality of the styloglossus muscle.
HP:3000017	Abnormality of temporalis muscle	biolink:PhenotypicFeature	hp	UMLS:C4073226			http://purl.obolibrary.org/obo/HP_3000017	An abnormality of a temporalis muscle.
HP:3000018	Abnormality of zygomaticus major muscle	biolink:PhenotypicFeature	hp	UMLS:C4073227			http://purl.obolibrary.org/obo/HP_3000018	An abnormality of a zygomaticus major muscle.
HP:3000019	Abnormality of buccal mucosa	biolink:PhenotypicFeature	hp	UMLS:C4073228		Abnormality of cheek mucosa|Abnormality of inside lining of cheek	http://purl.obolibrary.org/obo/HP_3000019	An abnormality of a buccal mucosa.
HP:3000020	Abnormality of zygomaticus minor muscle	biolink:PhenotypicFeature	hp	UMLS:C4073229			http://purl.obolibrary.org/obo/HP_3000020	An abnormality of a zygomaticus minor muscle.
HP:3000021	Abnormality of buccal fat pad	biolink:PhenotypicFeature	hp	UMLS:C4073230			http://purl.obolibrary.org/obo/HP_3000021	An abnormality of a buccal fat pad.
HP:3000022	Abnormality of cartilage of external ear	biolink:PhenotypicFeature	hp	UMLS:C4073231			http://purl.obolibrary.org/obo/HP_3000022	An abnormality of a cartilage of external ear.
HP:3000023	Abnormality of angular artery	biolink:PhenotypicFeature	hp	UMLS:C4073232			http://purl.obolibrary.org/obo/HP_3000023	An abnormality of the angular artery, the terminal branch of the facial artery.
HP:3000024	Abnormal facial artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4073233		Abnormality of facial artery	http://purl.obolibrary.org/obo/HP_3000024	Any structural abnormality of a facial artery, one of the branches of the external carotid artery.
HP:3000025	Abnormality of ciliary ganglion	biolink:PhenotypicFeature	hp	UMLS:C4073234			http://purl.obolibrary.org/obo/HP_3000025	An abnormality of a ciliary ganglion.
HP:3000026	obsolete Abnormality of common carotid artery plus branches	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_3000026	
HP:3000027	Abnormality of buccinator muscle	biolink:PhenotypicFeature	hp	UMLS:C4073236			http://purl.obolibrary.org/obo/HP_3000027	An abnormality of a buccinator muscle.
HP:3000028	Abnormality of depressor anguli oris muscle	biolink:PhenotypicFeature	hp	UMLS:C4073237			http://purl.obolibrary.org/obo/HP_3000028	An abnormality of a depressor anguli oris muscle.
HP:3000029	Abnormality of depressor labii inferioris	biolink:PhenotypicFeature	hp	UMLS:C4073238		Abnormality of depressor labii inferioris muscle	http://purl.obolibrary.org/obo/HP_3000029	An abnormality of a depressor labii inferioris.
HP:3000030	Abnormality of bony orbit of skull	biolink:PhenotypicFeature	hp	UMLS:C4073239		Abnormality of bones of the orbit of the skull|Abnormality of the bony eye socket|Abnormality of the orbital bones of skull	http://purl.obolibrary.org/obo/HP_3000030	An abnormality of an orbit of skull.
HP:3000031	Abnormality of anterior ethmoidal artery	biolink:PhenotypicFeature	hp	UMLS:C4073287			http://purl.obolibrary.org/obo/HP_3000031	An abnormality of an anterior ethmoidal artery.
HP:3000032	Abnormality of central retinal artery	biolink:PhenotypicFeature	hp	UMLS:C4073240			http://purl.obolibrary.org/obo/HP_3000032	An abnormality of a central retinal artery.
HP:3000033	Abnormal nasopharyngeal adenoid morphology	biolink:PhenotypicFeature	hp	UMLS:C4073241		Abnormality of adenoids|Abnormality of nasopharyngeal adenoids|Abnormality of nasopharyngeal tonsil|Abnormality of pharyngeal tonsil	http://purl.obolibrary.org/obo/HP_3000033	Any abnormality of nasopharyngeal adenoids.
HP:3000034	Abnormality nasal septum cartilage morphology	biolink:PhenotypicFeature	hp	UMLS:C4073242		Abnormality of cartilage of nasal septum|Abnormality of cartilage of septum of nose|Deformity of cartilage of nasal septum|Malformation of cartilage of nasal septum|Anomaly of cartilage of nasal septum	http://purl.obolibrary.org/obo/HP_3000034	An abnormality of a cartilage of nasal septum.
HP:3000035	Abnormality of cervical plexus	biolink:PhenotypicFeature	hp	UMLS:C4073243			http://purl.obolibrary.org/obo/HP_3000035	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	Abnormality of head blood vessel	biolink:PhenotypicFeature	hp	UMLS:C4073244		Abnormality of blood vessel of head|Abnormality of head blood vessel|Abnormality of vasculature of head	http://purl.obolibrary.org/obo/HP_3000036	An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.
HP:3000037	Abnormality of neck blood vessel	biolink:PhenotypicFeature	hp	UMLS:C4073245		Abnormality of blood vessel of neck|Abnormality of neck blood vessel|Abnormality of the cervical blood vessels|Abnormality of the cervical vasculature|Abnormality of the vasculature of the neck	http://purl.obolibrary.org/obo/HP_3000037	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	biolink:PhenotypicFeature	hp	UMLS:C4073246		Abnormality of cricoid cartilage	http://purl.obolibrary.org/obo/HP_3000038	Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.
HP:3000039	Abnormality of dorsal nasal artery	biolink:PhenotypicFeature	hp	UMLS:C4073247			http://purl.obolibrary.org/obo/HP_3000039	An abnormality of a dorsal nasal artery.
HP:3000040	Abnormality of ethmoid sinus	biolink:PhenotypicFeature	hp	UMLS:C4073248		Abnormality of ethmoidal air cells	http://purl.obolibrary.org/obo/HP_3000040	An abnormality of an ethmoid sinus.
HP:3000041	Abnormality of external carotid artery	biolink:PhenotypicFeature	hp	UMLS:C4073249		Abnormality of carotid artery|Disorder of carotid artery	http://purl.obolibrary.org/obo/HP_3000041	An abnormality of an external carotid artery.
HP:3000042	Abnormal jugular vein morphology	biolink:PhenotypicFeature	hp	UMLS:C4073250		Abnormality of jugular vein	http://purl.obolibrary.org/obo/HP_3000042	Any structural abnormality of a jugular vein.
HP:3000043	Abnormal facial vein morphology	biolink:PhenotypicFeature	hp	UMLS:C4073251		Abnormal vein of face|Abnormality of facial vein	http://purl.obolibrary.org/obo/HP_3000043	An abnormality of a facial vein.
HP:3000044	Abnormality of frontal process of maxilla	biolink:PhenotypicFeature	hp	UMLS:C4073252			http://purl.obolibrary.org/obo/HP_3000044	An abnormality of a frontal process of the maxilla bone.
HP:3000045	Abnormality of genioglossus muscle	biolink:PhenotypicFeature	hp	UMLS:C4073253			http://purl.obolibrary.org/obo/HP_3000045	An abnormality of a genioglossus muscle.
HP:3000046	Abnormality of geniohyoid muscle	biolink:PhenotypicFeature	hp	UMLS:C4073254			http://purl.obolibrary.org/obo/HP_3000046	An abnormality of a geniohyoid muscle.
HP:3000047	Abnormal glossopharyngeal nerve morphology	biolink:PhenotypicFeature	hp	UMLS:C4073255		Abnormality of glossopharyngeal nerve	http://purl.obolibrary.org/obo/HP_3000047	Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).
HP:3000048	Abnormal great auricular nerve morphology	biolink:PhenotypicFeature	hp	UMLS:C4073256			http://purl.obolibrary.org/obo/HP_3000048	Any structural anomaly of a great auricular nerve.
HP:3000049	Abnormal greater palatine artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4073257		Abnormality of greater palatine artery	http://purl.obolibrary.org/obo/HP_3000049	An abnormality of a greater palatine artery.
HP:3000050	Abnormality of odontoid tissue	biolink:PhenotypicFeature	hp	UMLS:C4073258		Abnormality of hard tissues of teeth|Abnormality of tooth hard tissue	http://purl.obolibrary.org/obo/HP_3000050	An abnormality of an odontoid tissue.
HP:3000051	Abnormal hyoglossus muscle morphology	biolink:PhenotypicFeature	hp	UMLS:C4073259		Abnormality of hyoglossus muscle	http://purl.obolibrary.org/obo/HP_3000051	An abnormality of a hyoglossus muscle.
HP:3000052	Abnormality of hyoid bone	biolink:PhenotypicFeature	hp	UMLS:C4073260			http://purl.obolibrary.org/obo/HP_3000052	An abnormality of a hyoid bone.
HP:3000053	Abnormal hypopharynx morphology	biolink:PhenotypicFeature	hp	UMLS:C4073261		Abnormality of hypopharynx|Abnormality of lower pharynx	http://purl.obolibrary.org/obo/HP_3000053	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	Abnormality of inferior alveolar artery	biolink:PhenotypicFeature	hp	UMLS:C4073262			http://purl.obolibrary.org/obo/HP_3000054	An abnormality of an inferior alveolar artery.
HP:3000055	Abnormality of inferior alveolar nerve	biolink:PhenotypicFeature	hp	UMLS:C4073263			http://purl.obolibrary.org/obo/HP_3000055	An abnormality of an inferior alveolar nerve.
HP:3000056	Abnormality of artery of lower lip	biolink:PhenotypicFeature	hp	UMLS:C4073264		Abnormality of the inferior labial artery	http://purl.obolibrary.org/obo/HP_3000056	An abnormality of an artery of lower lip.
HP:3000057	Abnormality of inferior oblique extraocular muscle	biolink:PhenotypicFeature	hp	UMLS:C4073265		Abnormality of the inferior oblique muscle	http://purl.obolibrary.org/obo/HP_3000057	An abnormality of an inferior oblique extraocular muscle.
HP:3000058	Abnormality of inferior rectus extraocular muscle	biolink:PhenotypicFeature	hp	UMLS:C4073266			http://purl.obolibrary.org/obo/HP_3000058	An abnormality of an inferior rectus extraocular muscle.
HP:3000059	Abnormal inferior thyroid vein morphology	biolink:PhenotypicFeature	hp	UMLS:C4073267		Abnormality of inferior thyroid vein	http://purl.obolibrary.org/obo/HP_3000059	An abnormality of an inferior thyroid vein.
HP:3000060	Abnormality of infraorbital artery	biolink:PhenotypicFeature	hp	UMLS:C4073268			http://purl.obolibrary.org/obo/HP_3000060	An abnormality of an infraorbital artery.
HP:3000061	Abnormality of infra-orbital nerve	biolink:PhenotypicFeature	hp	UMLS:C4073269		Abnormality of the infraorbital nerve	http://purl.obolibrary.org/obo/HP_3000061	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	biolink:PhenotypicFeature	hp	UMLS:C1860488		Abnormality of internal carotid artery	http://purl.obolibrary.org/obo/HP_3000062	An abnormality of an internal carotid artery.
HP:3000063	Abnormality of internal jugular vein	biolink:PhenotypicFeature	hp	UMLS:C4073270			http://purl.obolibrary.org/obo/HP_3000063	An abnormality of an internal jugular vein.
HP:3000064	Abnormality of intrinsic muscle of tongue	biolink:PhenotypicFeature	hp	UMLS:C4073271		Abnormality of intrinsic lingual muscle	http://purl.obolibrary.org/obo/HP_3000064	An abnormality of an intrinsic muscle of tongue.
HP:3000065	Abnormal lacrimal artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4073272		Abnormality of lacrimal artery	http://purl.obolibrary.org/obo/HP_3000065	An abnormality of a lacrimal artery.
HP:3000066	Abnormal lacrimal sac morphology	biolink:PhenotypicFeature	hp	UMLS:C4073273		Abnormality of lacrimal sac	http://purl.obolibrary.org/obo/HP_3000066	An abnormality of a lacrimal sac.
HP:3000067	Abnormal lateral cricoarytenoid muscle morphology	biolink:PhenotypicFeature	hp	UMLS:C4073274		Abnormal anterior cricoarytenoid muscle morphology|Abnormality of lateral crico-arytenoid|Abnormality of lateral cricoarytenoid muscle	http://purl.obolibrary.org/obo/HP_3000067	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	biolink:PhenotypicFeature	hp	UMLS:C4073275			http://purl.obolibrary.org/obo/HP_3000068	An abnormality of a lateral pterygoid muscle.
HP:3000069	Abnormality of lateral rectus extra-ocular muscle	biolink:PhenotypicFeature	hp	UMLS:C4073276			http://purl.obolibrary.org/obo/HP_3000069	An abnormality of a lateral rectus extra-ocular muscle.
HP:3000070	Abnormality of levator anguli oris	biolink:PhenotypicFeature	hp	UMLS:C4073277			http://purl.obolibrary.org/obo/HP_3000070	An abnormality of a levator anguli oris.
HP:3000071	Abnormality of levator labii superioris	biolink:PhenotypicFeature	hp	UMLS:C4073278			http://purl.obolibrary.org/obo/HP_3000071	An abnormality of a levator labii superioris.
HP:3000072	Abnormal levator palpebrae superioris morphology	biolink:PhenotypicFeature	hp	UMLS:C4073279			http://purl.obolibrary.org/obo/HP_3000072	An abnormality of a levator palpebrae superioris.
HP:3000073	Abnormality of levator veli palatini muscle	biolink:PhenotypicFeature	hp	UMLS:C4073280			http://purl.obolibrary.org/obo/HP_3000073	An abnormality of a levator veli palatini.
HP:3000074	Abnormal lingual artery morphology	biolink:PhenotypicFeature	hp	UMLS:C4073281		Abnormality of lingual artery	http://purl.obolibrary.org/obo/HP_3000074	Any structural abnormality of a lingual artery.
HP:3000075	Abnormal lingual nerve morphology	biolink:PhenotypicFeature	hp	UMLS:C4073282		Abnormality of lingual nerve	http://purl.obolibrary.org/obo/HP_3000075	Any structural anomaly of a lingual nerve.
HP:3000076	Abnormality of lingual tonsil	biolink:PhenotypicFeature	hp	UMLS:C4073283			http://purl.obolibrary.org/obo/HP_3000076	An abnormality of a lingual tonsil.
HP:3000077	Abnormal mandible condylar process morphology	biolink:PhenotypicFeature	hp	UMLS:C4073284		Abnormality of mandible condylar process	http://purl.obolibrary.org/obo/HP_3000077	An abnormality of a mandible condylar process.
HP:3000078	Abnormal mandible coronoid process morphology	biolink:PhenotypicFeature	hp	UMLS:C4073285		Abnormality of mandible coronoid process	http://purl.obolibrary.org/obo/HP_3000078	An abnormality of a mandible coronoid process.
HP:3000079	Abnormal mandibular symphysis morphology	biolink:PhenotypicFeature	hp	UMLS:C4073286		Abnormality of mandible symphysis	http://purl.obolibrary.org/obo/HP_3000079	A structural abnormality of a mandibular symphysis.
OBO:hp#abbreviation	abbreviation	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#abbreviation	
OBO:hp#display_label	display label	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#display_label	
OBO:hp#layperson	layperson term	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#layperson	
OBO:hp#obsolete_synonym	discarded/obsoleted synonym	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#obsolete_synonym	
OBO:hp#plural_form	plural form	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#plural_form	
OBO:hp#uk_spelling	UK spelling	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#uk_spelling	
HP:0045087	Hip joint hypermobility	biolink:PhenotypicFeature	hp				http://purl.obolibrary.org/obo/HP_0045087	
OBO:hp#is_observable_through	is_observable_through	biolink:OntologyClass	hp				http://purl.obolibrary.org/obo/hp#is_observable_through